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    TCF7L2 transcription factor 7 like 2 [ Homo sapiens (human) ]

    Gene ID: 6934, updated on 18-Sep-2016
    Official Symbol
    TCF7L2provided by HGNC
    Official Full Name
    transcription factor 7 like 2provided by HGNC
    Primary source
    HGNC:HGNC:11641
    See related
    Ensembl:ENSG00000148737 HPRD:03751; MIM:602228; Vega:OTTHUMG00000019070
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TCF4; TCF-4
    Summary
    This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
    Annotation information
    Note: TCF4 (GeneID: 6925) and TCF7L2 (GeneID: 6934) loci share the TCF4 symbol/alias in common. TCF4 is a widely used alternative name for T-cell-specific transcription factor 4 (TCF7L2) conflicting with the official symbol for transcription factor 4 (TCF4). [26 Jun 2008]
    Orthologs
    Location:
    10q25.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (112950219..113167678)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (114709978..114927437)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene vesicle transport through interaction with t-SNAREs 1A Neighboring gene uncharacterized LOC103344931 Neighboring gene uncharacterized LOC107984158 Neighboring gene uncharacterized LOC105378488 Neighboring gene ribosomal protein S15a pseudogene 30 Neighboring gene small nucleolar RNA, H/ACA box 87 Neighboring gene uncharacterized LOC105378489 Neighboring gene uncharacterized LOC105378490

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Diabetes mellitus type 2
    MedGen: C0011860 OMIM: 125853 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
    NHGRI GWA Catalog
    A genome-wide association study identifies novel risk loci for type 2 diabetes.
    NHGRI GWA Catalog
    A genome-wide association study of the metabolic syndrome in Indian Asian men.
    NHGRI GWA Catalog
    A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.
    NHGRI GWA Catalog
    A variant in CDKAL1 influences insulin response and risk of type 2 diabetes.
    NHGRI GWA Catalog
    Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.
    NHGRI GWA Catalog
    Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.
    NHGRI GWA Catalog
    Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.
    NHGRI GWA Catalog
    Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.
    NHGRI GWA Catalog
    Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
    NHGRI GWA Catalog
    Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
    NHGRI GWA Catalog
    Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21.
    NHGRI GWA Catalog
    Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.
    NHGRI GWA Catalog
    Genome-wide association study identifies three novel loci for type 2 diabetes.
    NHGRI GWA Catalog
    Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
    NHGRI GWA Catalog
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    NHGRI GWA Catalog
    Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
    NHGRI GWA Catalog
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    NHGRI GWA Catalog
    Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
    NHGRI GWA Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    NHGRI GWA Catalog
    Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
    NHGRI GWA Catalog
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.
    NHGRI GWA Catalog
    New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
    NHGRI GWA Catalog
    Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.
    NHGRI GWA Catalog
    Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.
    NHGRI GWA Catalog
    Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.
    NHGRI GWA Catalog
    The TCF7L2 diabetes risk variant is associated with HbA₁(C) levels: a genome-wide association meta-analysis.
    NHGRI GWA Catalog
    Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
    NHGRI GWA Catalog
    Type 2 diabetes whole-genome association study in four populations: the DiaGen consortium.
    NHGRI GWA Catalog
    Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of Beta-catenin (CTNNB1) and transcription factor 4 (TCF4) by siRNA enhances HIV-1 transcription in astrocytes PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates the expression of transcription factor 7-like 2 (TCF7L2) in human B cells PubMed
    Tat tat Expression of TCF-4 in human astrocytic cells decreased HIV-1 Tat-mediated transcription of the HIV-1 LTR, while GST pull-down assays revealed a direct interaction of Tat with TCF-4, suggesting TCF-4 may regulate the level of HIV-1 gene transcription PubMed
    tat TCF4 and beta-catenin proteins inhibit docking of HIV-1 Tat at the TAR region of the HIV-1 LTR PubMed
    tat Axin1 regulates HIV-1 Tat-mediated transcription, which requires beta-catenin and TCF4 PubMed
    tat HIV-1 Tat expression inhibits the TCF-4-induced inhibition of Sp1 phosphorylation and Sp1-mediated HIV-1 LTR transcription PubMed

    Go to the HIV-1, Human Interaction Database

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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA polymerase II repressing transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    armadillo repeat domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    beta-catenin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    beta-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    gamma-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    nuclear hormone receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    Wnt signaling pathway, calcium modulating pathway TAS
    Traceable Author Statement
    more info
     
    beta-catenin-TCF complex assembly TAS
    Traceable Author Statement
    more info
     
    blood vessel development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    canonical Wnt signaling pathway IC
    Inferred by Curator
    more info
    PubMed 
    canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell cycle arrest IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    fat cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glucose homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    maintenance of DNA repeat elements IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    myoblast fate commitment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of extrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of sequence-specific DNA binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of type B pancreatic cell apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pancreas development TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of heparan sulfate proteoglycan biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of insulin secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of insulin secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein export from nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein kinase B signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of hormone metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of smooth muscle cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to glucose ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    PML body IEA
    Inferred from Electronic Annotation
    more info
     
    beta-catenin-TCF7L2 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    nuclear chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein-DNA complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    transcription factor 7-like 2
    Names
    HMG box transcription factor 4
    T-cell factor 4
    T-cell factor-4 variant A
    T-cell factor-4 variant B
    T-cell factor-4 variant C
    T-cell factor-4 variant D
    T-cell factor-4 variant E
    T-cell factor-4 variant F
    T-cell factor-4 variant G
    T-cell factor-4 variant H
    T-cell factor-4 variant I
    T-cell factor-4 variant J
    T-cell factor-4 variant K
    T-cell factor-4 variant L
    T-cell factor-4 variant M
    T-cell factor-4 variant X2
    T-cell-specific transcription factor 4
    hTCF-4
    transcription factor 7-like 2 (T-cell specific, HMG-box)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012631.1 RefSeqGene

      Range
      5001..222429
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001146274.1NP_001139746.1  transcription factor 7-like 2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform.
      Source sequence(s)
      AL158212, AL445486, AL451084
      Consensus CDS
      CCDS53577.1
      UniProtKB/Swiss-Prot
      Q9NQB0
      Related
      ENSP00000486891, OTTHUMP00000279338, ENST00000627217, OTTHUMT00000484358
      Conserved Domains (2) summary
      cd01388
      Location:353420
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17259
      CTNNB1_binding; N-terminal CTNNB1 binding
    2. NM_001146283.1NP_001139755.1  transcription factor 7-like 2 isoform 3

      See identical proteins and their annotated locations for NP_001139755.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL135792, AL158212, AL445486, AL451084
      Consensus CDS
      CCDS53578.1
      UniProtKB/Swiss-Prot
      Q9NQB0
      Related
      ENSP00000347949, OTTHUMP00000020499, ENST00000355717, OTTHUMT00000050417
      Conserved Domains (2) summary
      cd01388
      Location:377444
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17283
      CTNNB1_binding; N-terminal CTNNB1 binding
    3. NM_001146284.1NP_001139756.1  transcription factor 7-like 2 isoform 4

      See identical proteins and their annotated locations for NP_001139756.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 4) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL158212, AL445486, AL451084
      UniProtKB/Swiss-Prot
      Q9NQB0
      Conserved Domains (2) summary
      cd01388
      Location:326393
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17236
      CTNNB1_binding; N-terminal CTNNB1 binding
    4. NM_001146285.1NP_001139757.1  transcription factor 7-like 2 isoform 5

      See identical proteins and their annotated locations for NP_001139757.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 5, which is shorter than isoform 1.
      Source sequence(s)
      AL158212, AL445486, AL451084
      Consensus CDS
      CCDS73197.1
      UniProtKB/TrEMBL
      C6ZRK5
      Related
      ENSP00000446238, ENST00000536810
      Conserved Domains (2) summary
      cd01388
      Location:330397
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17236
      CTNNB1_binding; N-terminal CTNNB1 binding
    5. NM_001146286.1NP_001139758.1  transcription factor 7-like 2 isoform 6

      See identical proteins and their annotated locations for NP_001139758.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 6) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL158212, AL445486, AL451084
      UniProtKB/Swiss-Prot
      Q9NQB0
      Conserved Domains (2) summary
      cd01388
      Location:330397
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17236
      CTNNB1_binding; N-terminal CTNNB1 binding
    6. NM_001198525.1NP_001185454.1  transcription factor 7-like 2 isoform 7

      See identical proteins and their annotated locations for NP_001185454.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 7) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL451084, DA473655, FJ010166, FJ010170
      Consensus CDS
      CCDS73196.1
      UniProtKB/TrEMBL
      C6ZRJ7, C6ZRK1
      Related
      ENSP00000440547, OTTHUMP00000282467, ENST00000545257, OTTHUMT00000050419
      Conserved Domains (2) summary
      cd01388
      Location:335402
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17236
      CTNNB1_binding; N-terminal CTNNB1 binding
    7. NM_001198526.1NP_001185455.1  transcription factor 7-like 2 isoform 8

      See identical proteins and their annotated locations for NP_001185455.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 8, which is shorter than isoform 1.
      Source sequence(s)
      AL451084, DA473655, FJ010167
      UniProtKB/Swiss-Prot
      Q9NQB0
      Conserved Domains (2) summary
      cd01388
      Location:330397
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17236
      CTNNB1_binding; N-terminal CTNNB1 binding
    8. NM_001198527.1NP_001185456.1  transcription factor 7-like 2 isoform 9

      See identical proteins and their annotated locations for NP_001185456.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 9) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL451084, DA473655, FJ010168
      Consensus CDS
      CCDS81504.1
      UniProtKB/TrEMBL
      C6ZRJ9
      Related
      ENSP00000358402, OTTHUMP00000282466, ENST00000369395, OTTHUMT00000490057
      Conserved Domains (2) summary
      cd01388
      Location:326393
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17236
      CTNNB1_binding; N-terminal CTNNB1 binding
    9. NM_001198528.1NP_001185457.1  transcription factor 7-like 2 isoform 10

      See identical proteins and their annotated locations for NP_001185457.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 10) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL451084, DA473655, FJ010169
      Consensus CDS
      CCDS55729.1
      UniProtKB/Swiss-Prot
      Q9NQB0
      Related
      ENSP00000344823, OTTHUMP00000282465, ENST00000352065, OTTHUMT00000490056
      Conserved Domains (2) summary
      cd01388
      Location:330397
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17236
      CTNNB1_binding; N-terminal CTNNB1 binding
    10. NM_001198529.1NP_001185458.1  transcription factor 7-like 2 isoform 11

      See identical proteins and their annotated locations for NP_001185458.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 11) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL451084, DA473655, FJ010170
      UniProtKB/TrEMBL
      C6ZRK1
      Conserved Domains (2) summary
      cd01388
      Location:330397
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17236
      CTNNB1_binding; N-terminal CTNNB1 binding
    11. NM_001198530.1NP_001185459.1  transcription factor 7-like 2 isoform 12

      See identical proteins and their annotated locations for NP_001185459.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 12) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL451084, DA473655, FJ010171
      Consensus CDS
      CCDS73198.1
      UniProtKB/TrEMBL
      A0A0A0MTL7, C6ZRK2
      Related
      ENSP00000443626, ENST00000534894
      Conserved Domains (2) summary
      cd01388
      Location:296363
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17202
      CTNNB1_binding; N-terminal CTNNB1 binding
    12. NM_001198531.1NP_001185460.1  transcription factor 7-like 2 isoform 13

      See identical proteins and their annotated locations for NP_001185460.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 13) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AB440195, AL451084, DA473655
      UniProtKB/Swiss-Prot
      Q9NQB0
      Conserved Domains (2) summary
      cd01388
      Location:353420
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17259
      CTNNB1_binding; N-terminal CTNNB1 binding
    13. NM_030756.4NP_110383.2  transcription factor 7-like 2 isoform 2

      See identical proteins and their annotated locations for NP_110383.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AL158212, AL445486, AL451084
      Consensus CDS
      CCDS7576.1
      UniProtKB/TrEMBL
      Q6FHW4
      Related
      ENSP00000358404, OTTHUMP00000020496, ENST00000369397, OTTHUMT00000050413
      Conserved Domains (2) summary
      cd01388
      Location:330397
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17236
      CTNNB1_binding; N-terminal CTNNB1 binding

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      112950219..113167678
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016589.1XP_016872078.1  

    2. XM_005270071.1XP_005270128.1  

      Conserved Domains (2) summary
      cd01388
      Location:406473
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17307
      CTNNB1_binding; N-terminal CTNNB1 binding
    3. XM_011540109.1XP_011538411.1  

      Conserved Domains (2) summary
      cd01388
      Location:406473
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17307
      CTNNB1_binding; N-terminal CTNNB1 binding
    4. XM_005270077.1XP_005270134.1  

      Conserved Domains (2) summary
      cd01388
      Location:406473
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17307
      CTNNB1_binding; N-terminal CTNNB1 binding
    5. XM_005270078.1XP_005270135.1  

      Conserved Domains (2) summary
      cd01388
      Location:406473
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17307
      CTNNB1_binding; N-terminal CTNNB1 binding
    6. XM_005270095.1XP_005270152.1  

      Conserved Domains (2) summary
      cd01388
      Location:406473
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17307
      CTNNB1_binding; N-terminal CTNNB1 binding
    7. XM_005270075.1XP_005270132.1  

      Conserved Domains (2) summary
      cd01388
      Location:401468
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17307
      CTNNB1_binding; N-terminal CTNNB1 binding
    8. XM_017016586.1XP_016872075.1  

    9. XM_005270079.1XP_005270136.1  

      Conserved Domains (2) summary
      cd01388
      Location:401468
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17307
      CTNNB1_binding; N-terminal CTNNB1 binding
    10. XM_017016595.1XP_016872084.1  

    11. XM_017016585.1XP_016872074.1  

    12. XM_017016587.1XP_016872076.1  

    13. XM_017016584.1XP_016872073.1  

    14. XM_017016590.1XP_016872079.1  

    15. XM_005270085.1XP_005270142.1  

      See identical proteins and their annotated locations for XP_005270142.1

      UniProtKB/TrEMBL
      E2GH26
      Related
      ENSP00000444972, ENST00000543371
      Conserved Domains (2) summary
      cd01388
      Location:358425
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17259
      CTNNB1_binding; N-terminal CTNNB1 binding
    16. XM_005270100.1XP_005270157.1  

      See identical proteins and their annotated locations for XP_005270157.1

      UniProtKB/TrEMBL
      E2GH16
      Conserved Domains (2) summary
      cd01388
      Location:358425
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17259
      CTNNB1_binding; N-terminal CTNNB1 binding
    17. XM_005270084.1XP_005270141.1  

      See identical proteins and their annotated locations for XP_005270141.1

      UniProtKB/Swiss-Prot
      Q9NQB0
      Related
      ENSP00000348274, ENST00000355995
      Conserved Domains (2) summary
      cd01388
      Location:353420
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17259
      CTNNB1_binding; N-terminal CTNNB1 binding
    18. XM_017016592.1XP_016872081.1  

    19. XM_017016593.1XP_016872082.1  

    20. XM_017016591.1XP_016872080.1  

    21. XM_005270102.1XP_005270159.1  

      See identical proteins and their annotated locations for XP_005270159.1

      Conserved Domains (2) summary
      cd01388
      Location:349416
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17259
      CTNNB1_binding; N-terminal CTNNB1 binding
    22. XM_005270080.1XP_005270137.1  

      Conserved Domains (2) summary
      cd01388
      Location:383450
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17284
      CTNNB1_binding; N-terminal CTNNB1 binding
    23. XM_017016588.1XP_016872077.1  

    24. XM_011540110.1XP_011538412.1  

      Related
      ENSP00000443883, ENST00000542695
      Conserved Domains (2) summary
      cd01388
      Location:374441
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17284
      CTNNB1_binding; N-terminal CTNNB1 binding
    25. XM_005270086.1XP_005270143.1  

      See identical proteins and their annotated locations for XP_005270143.1

      Conserved Domains (2) summary
      cd01388
      Location:335402
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17236
      CTNNB1_binding; N-terminal CTNNB1 binding
    26. XM_017016594.1XP_016872083.1  

    27. XM_005270089.1XP_005270146.1  

      See identical proteins and their annotated locations for XP_005270146.1

      UniProtKB/Swiss-Prot
      Q9NQB0
      UniProtKB/TrEMBL
      A0A0D9SGH8
      Related
      ENSP00000487507, OTTHUMP00000279339, ENST00000629706, OTTHUMT00000484359
      Conserved Domains (2) summary
      cd01388
      Location:335402
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17236
      CTNNB1_binding; N-terminal CTNNB1 binding
    28. XM_005270103.1XP_005270160.1  

      See identical proteins and their annotated locations for XP_005270160.1

      UniProtKB/Swiss-Prot
      Q9NQB0
      Conserved Domains (2) summary
      cd01388
      Location:335402
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17236
      CTNNB1_binding; N-terminal CTNNB1 binding
    29. XM_011540111.1XP_011538413.1  

      See identical proteins and their annotated locations for XP_011538413.1

      Conserved Domains (2) summary
      cd01388
      Location:330397
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17236
      CTNNB1_binding; N-terminal CTNNB1 binding
    30. XM_005270088.1XP_005270145.1  

      See identical proteins and their annotated locations for XP_005270145.1

      Conserved Domains (2) summary
      cd01388
      Location:326393
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17236
      CTNNB1_binding; N-terminal CTNNB1 binding
    31. XM_005270104.1XP_005270161.1  

      See identical proteins and their annotated locations for XP_005270161.1

      UniProtKB/TrEMBL
      E2GH18
      Conserved Domains (2) summary
      cd01388
      Location:326393
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17236
      CTNNB1_binding; N-terminal CTNNB1 binding
    32. XM_005270093.2XP_005270150.1  

      See identical proteins and their annotated locations for XP_005270150.1

      Conserved Domains (2) summary
      cd01388
      Location:406473
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17307
      CTNNB1_binding; N-terminal CTNNB1 binding
    33. XM_005270094.2XP_005270151.1  

      See identical proteins and their annotated locations for XP_005270151.1

      Conserved Domains (2) summary
      cd01388
      Location:405472
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17306
      CTNNB1_binding; N-terminal CTNNB1 binding
    34. XM_005270096.2XP_005270153.1  

      See identical proteins and their annotated locations for XP_005270153.1

      UniProtKB/Swiss-Prot
      Q9NQB0
      Related
      ENSP00000446172, ENST00000538897
      Conserved Domains (2) summary
      cd01388
      Location:353420
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17259
      CTNNB1_binding; N-terminal CTNNB1 binding
    35. XM_017016596.1XP_016872085.1  

    36. XM_005270101.2XP_005270158.1  

      See identical proteins and their annotated locations for XP_005270158.1

      UniProtKB/TrEMBL
      E2GH13
      Conserved Domains (2) summary
      cd01388
      Location:335402
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17236
      CTNNB1_binding; N-terminal CTNNB1 binding
    37. XM_005270091.2XP_005270148.1  

      See identical proteins and their annotated locations for XP_005270148.1

      Conserved Domains (2) summary
      cd01388
      Location:406473
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17307
      CTNNB1_binding; N-terminal CTNNB1 binding
    38. XM_011540116.1XP_011538418.1  

      See identical proteins and their annotated locations for XP_011538418.1

      Conserved Domains (2) summary
      cd01388
      Location:406473
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:1307
      CTNNB1_binding; N-terminal CTNNB1 binding
    39. XM_011540113.2XP_011538415.1  

      See identical proteins and their annotated locations for XP_011538415.1

      Conserved Domains (2) summary
      cd01388
      Location:406473
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17307
      CTNNB1_binding; N-terminal CTNNB1 binding
    40. XM_005270092.1XP_005270149.1  

      See identical proteins and their annotated locations for XP_005270149.1

      Conserved Domains (2) summary
      cd01388
      Location:406473
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam08347
      Location:17307
      CTNNB1_binding; N-terminal CTNNB1 binding

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      114992047..115209474
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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