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

Gene ID: 6934, updated on 24-May-2020

Summary

Official Symbol
TCF7L2provided by HGNC
Official Full Name
transcription factor 7 like 2provided by HGNC
Primary source
HGNC:HGNC:11641
See related
Ensembl:ENSG00000148737 MIM:602228
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 (Gene ID: 6925) and TCF7L2 (Gene ID: 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). [08 Feb 2019]
Expression
Ubiquitous expression in fat (RPKM 12.8), colon (RPKM 11.3) and 25 other tissues See more
Orthologs

Genomic context

See TCF7L2 in Genome Data Viewer
Location:
10q25.2-q25.3
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (112950247..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 VISTA enhancer hs1980 Neighboring gene ribosomal protein S15a pseudogene 30 Neighboring gene small nucleolar RNA, H/ACA box 87 Neighboring gene uncharacterized LOC105378489 Neighboring gene uncharacterized LOC105378490

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2019-03-27)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2019-03-27)

ClinGen Genome Curation PagePubMed

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

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: VTI1A

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II proximal promoter 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 IBA
Inferred from Biological aspect of Ancestor
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 
chromatin binding IBA
Inferred from Biological aspect of Ancestor
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 binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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 
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 DNA-binding transcription factor activity 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 ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
pancreas development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of epithelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of heparan sulfate proteoglycan biosynthetic process IMP
Inferred from Mutant Phenotype
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 by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II 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 by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
response to glucose ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
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 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein-DNA complex IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
transcription factor 7-like 2
Names
HMG box transcription factor 4
T-cell factor 4
T-cell-specific transcription factor 4
hTCF-4
transcription factor 7-like 2 (T-cell specific, HMG-box)

NCBI Reference Sequences (RefSeq)

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
    4998..222429
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001146274.2NP_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
    ENSP00000486891.1, ENST00000627217.3
    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_001146283.2NP_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
    ENSP00000347949.4, ENST00000355717.9
    Conserved Domains (2) summary
    cd01388
    Location:377444
    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 vertebrates, and ...
    pfam08347
    Location:17283
    CTNNB1_binding; N-terminal CTNNB1 binding
  3. NM_001146284.2NP_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; 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 vertebrates, and ...
    pfam08347
    Location:1236
    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
    ENSP00000446238.2, ENST00000536810.5
    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:1236
    CTNNB1_binding; N-terminal CTNNB1 binding
  5. NM_001146286.2NP_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; 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 vertebrates, and ...
    pfam08347
    Location:1236
    CTNNB1_binding; N-terminal CTNNB1 binding
  6. NM_001198525.2NP_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)
    AL158212, AL451084, DA473655, FJ010166, FJ010170
    Consensus CDS
    CCDS73196.1
    UniProtKB/TrEMBL
    C6ZRJ7, C6ZRK1
    Related
    ENSP00000440547.2, ENST00000545257.6
    Conserved Domains (2) summary
    cd01388
    Location:335402
    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 vertebrates, and ...
    pfam08347
    Location:1236
    CTNNB1_binding; N-terminal CTNNB1 binding
  7. NM_001198526.2NP_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)
    AL158212, AL451084, DA473655, FJ010167
    UniProtKB/Swiss-Prot
    Q9NQB0
    Related
    ENSP00000487507.1, ENST00000629706.2
    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:1236
    CTNNB1_binding; N-terminal CTNNB1 binding
  8. NM_001198527.2NP_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)
    AL158212, AL451084, DA473655, FJ010168
    Consensus CDS
    CCDS81504.1
    UniProtKB/TrEMBL
    Q5VVR7
    Related
    ENSP00000358402.2, ENST00000369395.6
    Conserved Domains (2) summary
    cd01388
    Location:326393
    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 vertebrates, and ...
    pfam08347
    Location:1236
    CTNNB1_binding; N-terminal CTNNB1 binding
  9. NM_001198528.2NP_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)
    AL158212, AL451084, DA473655, FJ010169
    Consensus CDS
    CCDS55729.1
    UniProtKB/Swiss-Prot
    Q9NQB0
    Related
    ENSP00000344823.5, ENST00000352065.10
    Conserved Domains (2) summary
    cd01388
    Location:330397
    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 vertebrates, and ...
    pfam08347
    Location:1236
    CTNNB1_binding; N-terminal CTNNB1 binding
  10. NM_001198529.2NP_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)
    AL158212, AL451084, DA473655, FJ010170
    UniProtKB/TrEMBL
    C6ZRK1
    Conserved Domains (2) summary
    cd01388
    Location:330397
    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 vertebrates, and ...
    pfam08347
    Location:1236
    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
    ENSP00000443626.2, ENST00000534894.5
    Conserved Domains (2) summary
    cd01388
    Location:296363
    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 vertebrates, and ...
    pfam08347
    Location:17202
    CTNNB1_binding; N-terminal CTNNB1 binding
  12. NM_001198531.2NP_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, AL158212, AL451084, DA473655
    UniProtKB/Swiss-Prot
    Q9NQB0
    Conserved Domains (2) summary
    cd01388
    Location:353420
    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 vertebrates, and ...
    pfam08347
    Location:17259
    CTNNB1_binding; N-terminal CTNNB1 binding
  13. NM_001349870.2NP_001336799.1  transcription factor 7-like 2 isoform 14

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14) lacks alternate exons in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (14) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AL451084
    Conserved Domains (2) summary
    cd01388
    Location:210277
    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:42116
    CTNNB1_binding; N-terminal CTNNB1 binding
  14. NM_001349871.1NP_001336800.1  transcription factor 7-like 2 isoform 15

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15) lacks alternate exons in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (15) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AL135792, AL451084
    Conserved Domains (2) summary
    cd01388
    Location:170237
    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 vertebrates, and ...
    pfam08347
    Location:276
    CTNNB1_binding; N-terminal CTNNB1 binding
  15. NM_001363501.1NP_001350430.1  transcription factor 7-like 2 isoform 16

    Status: REVIEWED

    Source sequence(s)
    AL158212, AL445486, AL451084
    Consensus CDS
    CCDS86148.1
    Related
    ENSP00000446172.1, ENST00000538897.5
    Conserved Domains (2) summary
    cd01388
    Location:353420
    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 vertebrates, and ...
    pfam08347
    Location:17259
    CTNNB1_binding; N-terminal CTNNB1 binding
  16. NM_001367943.1NP_001354872.1  transcription factor 7-like 2 isoform 17

    Status: REVIEWED

    Source sequence(s)
    BC032656, BM701919, BQ900611, BU619467, DA394991, DA590466, HM352850, Z99386
    Related
    ENSP00000348274.4, ENST00000355995.8
  17. NM_030756.5NP_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
    ENSP00000358404.4, ENST00000369397.8
    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:1236
    CTNNB1_binding; N-terminal CTNNB1 binding

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    112950247..113167678
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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