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    TCF4 transcription factor 4 [ Homo sapiens (human) ]

    Gene ID: 6925, updated on 12-Nov-2017
    Official Symbol
    TCF4provided by HGNC
    Official Full Name
    transcription factor 4provided by HGNC
    Primary source
    HGNC:HGNC:11634
    See related
    Ensembl:ENSG00000196628 MIM:602272; Vega:OTTHUMG00000132713
    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
    E2-2; ITF2; PTHS; SEF2; FECD3; ITF-2; SEF-2; TCF-4; SEF2-1; SEF2-1A; SEF2-1B; SEF2-1D; bHLHb19
    Summary
    This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]
    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:
    18q21.2
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 18 NC_000018.10 (55222331..55635993, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (52889562..53303252, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1929 Neighboring gene RNA, 5S ribosomal pseudogene 459 Neighboring gene TCF4 antisense RNA 1 Neighboring gene microRNA 4529 Neighboring gene uncharacterized LOC105372126 Neighboring gene uncharacterized LOC105372130 Neighboring gene ribosomal protein L21 pseudogene 126 Neighboring gene long intergenic non-protein coding RNA 1415 Neighboring gene uncharacterized LOC107985183

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Corneal dystrophy, Fuchs endothelial, 3
    MedGen: C2750451 OMIM: 613267 GeneReviews: Not available
    Compare labs
    Pitt-Hopkins syndrome
    MedGen: C1970431 OMIM: 610954 GeneReviews: Pitt-Hopkins Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-02-09)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-02-09)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A comprehensive family-based replication study of schizophrenia genes.
    NHGRI GWA Catalog
    Biological insights from 108 schizophrenia-associated genetic loci.
    NHGRI GWA Catalog
    Common polygenic variation contributes to risk of schizophrenia and bipolar disorder.
    NHGRI GWA Catalog
    Common variants conferring risk of schizophrenia.
    NHGRI GWA Catalog
    E2-2 protein and Fuchs's corneal dystrophy.
    NHGRI GWA Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    NHGRI GWA Catalog
    Genome-wide association analysis in primary sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4.
    NHGRI GWA Catalog
    Genome-wide association study identifies five new schizophrenia loci.
    NHGRI GWA Catalog
    Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
    NHGRI GWA Catalog
    Genome-wide meta-analysis for severe diabetic retinopathy.
    NHGRI GWA Catalog
    Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
    NHGRI GWA Catalog
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    NHGRI GWA Catalog
    • CDO in myogenesis, organism-specific biosystem (from REACTOME)
      CDO in myogenesis, organism-specific biosystemCDO/Cdon (cell-adhesion-molecule-related/downregulated by oncogenes) is a type I transmembrane multifunctional co-receptor consisting of five immunoglobulin and three fibronectin type III (FNIII) rep...
    • Coregulation of Androgen receptor activity, organism-specific biosystem (from Pathway Interaction Database)
      Coregulation of Androgen receptor activity, organism-specific biosystem
      Coregulation of Androgen receptor activity
    • Corticotropin-releasing hormone signaling pathway, organism-specific biosystem (from WikiPathways)
      Corticotropin-releasing hormone signaling pathway, organism-specific biosystemCorticotropin-releasing hormone (CRH) is a neuropeptide secreted abundantly in the paraventricular nucleus of the hypothalamus, amygdala, cerebral cortex and cerebellum in the central nervous system ...
    • Development of pulmonary dendritic cells and macrophage subsets, organism-specific biosystem (from WikiPathways)
      Development of pulmonary dendritic cells and macrophage subsets, organism-specific biosystemDevelopment of pulmonary DC and macrophage subsets. This model of pulmonary DC and macrophage subset differentiation in mice summarizes recent findings suggesting early lineage commitment of cDCs in ...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
      Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
    • Myogenesis, organism-specific biosystem (from REACTOME)
      Myogenesis, organism-specific biosystemMyogenesis, the formation of muscle tissue, is a complex process involving steps of cell proliferation mediated by growth factor signaling, cell differentiation, reorganization of cells to form myotu...
    • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
      Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
    • Regulation of Wnt-mediated beta catenin signaling and target gene transcription, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of Wnt-mediated beta catenin signaling and target gene transcription, organism-specific biosystem
      Regulation of Wnt-mediated beta catenin signaling and target gene transcription
    • Regulation of Wnt/B-catenin Signaling by Small Molecule Compounds, organism-specific biosystem (from WikiPathways)
      Regulation of Wnt/B-catenin Signaling by Small Molecule Compounds, organism-specific biosystemThe Wnt/B-catenin pathway begins with Wnt family activation by MBOAT that allows Wnt proteins to translocate out of a cell and bind to FZD and LRP to form a complex. This complex stimulates B-catenin...
    • Wnt Signaling Pathway Netpath, organism-specific biosystem (from WikiPathways)
      Wnt Signaling Pathway Netpath, organism-specific biosystemWNT signal, through the canonical pathway, controls cell fate determination and through the non-canonical pathway controls cell movement and tissue polarity. The name "wnt" is a fusion of two terms, ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC149723, MGC149724

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    E-box binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    RNA polymerase II proximal promoter sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA polymerase II proximal promoter sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    TFIIB-class transcription factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    bHLH transcription factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein heterodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein heterodimerization activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein homodimerization activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transcription factor activity, TFIIB-class binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding, RNA polymerase recruiting ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA-templated transcription, initiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    positive regulation of neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein-DNA complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    transcription initiation from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Component Evidence Code Pubs
    beta-catenin-TCF complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    nuclear chromatin IDA
    Inferred from Direct Assay
    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
     
    transcription factor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Preferred Names
    transcription factor 4
    Names
    SL3-3 enhancer factor 2
    class B basic helix-loop-helix protein 19
    immunoglobulin transcription factor 2
    transcription factor 4, isoform C
    transcription factor 4, isoform D
    transcription factor 4, isoform E
    transcription factor 4, isoform L
    transcription factor 4, isoform M
    transcription factor 4, isoform R

    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_011716.2 RefSeqGene

      Range
      52365..418663
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001083962.1NP_001077431.1  transcription factor 4 isoform a

      See identical proteins and their annotated locations for NP_001077431.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (a, also known as TCF4-B+) is shorter at the N-terminus compared to isoform c.
      Source sequence(s)
      AC091103, AK122765, BC125084, BJ989626
      Consensus CDS
      CCDS42438.1
      UniProtKB/Swiss-Prot
      P15884
      UniProtKB/TrEMBL
      B3KVA4
      Related
      ENSP00000346440.3, OTTHUMP00000249850, ENST00000354452.7, OTTHUMT00000421628
      Conserved Domains (1) summary
      smart00353
      Location:574627
      HLH; helix loop helix domain
    2. NM_001243226.2NP_001230155.2  transcription factor 4 isoform c

      See identical proteins and their annotated locations for NP_001230155.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (c).
      Source sequence(s)
      AC091103, AK315074, BC031056, BC125085, HY051304
      Consensus CDS
      CCDS58631.1
      UniProtKB/Swiss-Prot
      P15884
      UniProtKB/TrEMBL
      E9PH57
      Related
      ENSP00000381382.1, OTTHUMP00000163567, ENST00000398339.5, OTTHUMT00000256013
      Conserved Domains (1) summary
      smart00353
      Location:676729
      HLH; helix loop helix domain
    3. NM_001243227.1NP_001230156.1  transcription factor 4 isoform d

      See identical proteins and their annotated locations for NP_001230156.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (d) is shorter at the N-terminus compared to isoform c.
      Source sequence(s)
      AC091103, AK299169
      Consensus CDS
      CCDS58629.1
      UniProtKB/Swiss-Prot
      P15884
      Related
      ENSP00000440731.1, OTTHUMP00000249855, ENST00000537578.5, OTTHUMT00000421633
      Conserved Domains (1) summary
      smart00353
      Location:550603
      HLH; helix loop helix domain
    4. NM_001243228.1NP_001230157.1  transcription factor 4 isoform e

      See identical proteins and their annotated locations for NP_001230157.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice site at the 5' end of an exon compared to variant 3. The resulting isoform (e) is shorter at the N-terminus and contains an alternate internal segment compared to isoform c.
      Source sequence(s)
      AC091103, AK299169, AK315074
      Consensus CDS
      CCDS58630.1
      UniProtKB/Swiss-Prot
      P15884
      UniProtKB/TrEMBL
      H3BTP3
      Related
      ENSP00000457263.1, OTTHUMP00000249865, ENST00000564403.6, OTTHUMT00000421644
      Conserved Domains (1) summary
      smart00353
      Location:580633
      HLH; helix loop helix domain
    5. NM_001243230.1NP_001230159.1  transcription factor 4 isoform f

      See identical proteins and their annotated locations for NP_001230159.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice site at the 3' end of an exon compared to variant 3. The resulting isoform (f, also known as TCF4-E-) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform c.
      Source sequence(s)
      AC091103, AK122765, FR748216
      Consensus CDS
      CCDS59321.1
      UniProtKB/Swiss-Prot
      P15884
      UniProtKB/TrEMBL
      B3KVA4
      Related
      ENSP00000455418.2, OTTHUMP00000249863, ENST00000566286.5, OTTHUMT00000421642
      Conserved Domains (1) summary
      smart00353
      Location:567620
      HLH; helix loop helix domain
    6. NM_001243231.1NP_001230160.1  transcription factor 4 isoform g

      See identical proteins and their annotated locations for NP_001230160.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice site at the 3' end of an exon compared to variant 3. The resulting isoform (g) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform c.
      Source sequence(s)
      AC091103, AK096862
      Consensus CDS
      CCDS58628.1
      UniProtKB/Swiss-Prot
      P15884
      Related
      ENSP00000439656.1, OTTHUMP00000249853, ENST00000543082.5, OTTHUMT00000421631
      Conserved Domains (1) summary
      smart00353
      Location:528581
      HLH; helix loop helix domain
    7. NM_001243232.1NP_001230161.1  transcription factor 4 isoform h

      See identical proteins and their annotated locations for NP_001230161.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice site at the 5' end of an exon compared to variant 3. The resulting isoform (h) has a shorter and distinct N-terminus and contains an alternate internal segment compared to isoform c.
      Source sequence(s)
      AC091103, AK095041
      Consensus CDS
      CCDS58627.1
      UniProtKB/Swiss-Prot
      P15884
      Related
      ENSP00000441562.2, OTTHUMP00000249859, ENST00000544241.6, OTTHUMT00000421638
      Conserved Domains (1) summary
      smart00353
      Location:503556
      HLH; helix loop helix domain
    8. NM_001243233.1NP_001230162.1  transcription factor 4 isoform i

      See identical proteins and their annotated locations for NP_001230162.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice site at the 3' end of an exon compared to variant 3. The resulting isoform (i) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform c.
      Source sequence(s)
      AC091103, AK300612
      Consensus CDS
      CCDS58626.1
      UniProtKB/Swiss-Prot
      P15884
      Related
      ENSP00000455179.1, OTTHUMP00000249860, ENST00000561992.5, OTTHUMT00000421639
      Conserved Domains (1) summary
      smart00353
      Location:440493
      HLH; helix loop helix domain
    9. NM_001243234.1NP_001230163.1  transcription factor 4 isoform j

      See identical proteins and their annotated locations for NP_001230163.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (j, also known as TCF4-A+) has a shorter and distinct N-terminus compared to isoform c.
      Source sequence(s)
      AC091103, AK300038, DC298029, FR748220
      Consensus CDS
      CCDS58624.1
      UniProtKB/Swiss-Prot
      P15884
      Related
      ENSP00000409447.2, OTTHUMP00000249852, ENST00000457482.7, OTTHUMT00000421630
      Conserved Domains (1) summary
      smart00353
      Location:414467
      HLH; helix loop helix domain
    10. NM_001243235.1NP_001230164.1  transcription factor 4 isoform k

      See identical proteins and their annotated locations for NP_001230164.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice site at the 3' end of an exon compared to variant 3. The resulting isoform (k, also known as TCF4-A-) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform c.
      Source sequence(s)
      AC091103, AK300038, DC298029, FR748221
      Consensus CDS
      CCDS58625.1
      UniProtKB/Swiss-Prot
      P15884
      Related
      ENSP00000455763.1, OTTHUMP00000249885, ENST00000570287.6, OTTHUMT00000421675
      Conserved Domains (1) summary
      smart00353
      Location:410463
      HLH; helix loop helix domain
    11. NM_001243236.1NP_001230165.1  transcription factor 4 isoform l

      See identical proteins and their annotated locations for NP_001230165.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice site at the 3' end of an exon compared to variant 3. The resulting isoform (l) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform c.
      Source sequence(s)
      AC091103, AK300038, AL518903, FR748222
      Consensus CDS
      CCDS58623.1
      UniProtKB/Swiss-Prot
      P15884
      Related
      ENSP00000457765.1, OTTHUMP00000249861, ENST00000561831.7, OTTHUMT00000421640
      Conserved Domains (1) summary
      smart00353
      Location:410463
      HLH; helix loop helix domain
    12. NM_001306207.1NP_001293136.1  transcription factor 4 isoform m

      See identical proteins and their annotated locations for NP_001293136.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) differs in the 5' UTR and coding sequence, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 3. The encoded isoform (m) has a shorter N-terminus compared to isoform c.
      Source sequence(s)
      AC091103, AK301144, BP293388
      Consensus CDS
      CCDS77192.1
      UniProtKB/Swiss-Prot
      P15884
      Related
      ENSP00000445202.1, OTTHUMP00000249854, ENST00000540999.5, OTTHUMT00000421632
      Conserved Domains (1) summary
      smart00353
      Location:546599
      HLH; helix loop helix domain
    13. NM_001306208.1NP_001293137.1  transcription factor 4 isoform n

      See identical proteins and their annotated locations for NP_001293137.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14) differs in the 5' UTR and coding sequence, and uses two alternate in-frame splice sites in the coding region, compared to variant 3. The encoded isoform (n) has a shorter and distinct N-terminus compared to isoform c.
      Source sequence(s)
      AC091103, AK095041, FR748219
      Consensus CDS
      CCDS77191.1
      UniProtKB/Swiss-Prot
      P15884
      Related
      ENSP00000455261.1, OTTHUMP00000249862, ENST00000564228.5, OTTHUMT00000421641
      Conserved Domains (1) summary
      smart00353
      Location:499552
      HLH; helix loop helix domain
    14. NM_001330604.2NP_001317533.1  transcription factor 4 isoform o

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start codon, and uses an alternate in-frame splice site in the central coding region, compared to variant 3. The resulting isoform (o) is shorter at the N-terminus and lacks an internal aa compared to isoform c.
      Source sequence(s)
      AC013587, AC018994, AC090684, AC091103
      Consensus CDS
      CCDS82257.1
      UniProtKB/TrEMBL
      A0A1B0GVR6
    15. NM_001330605.2NP_001317534.1  transcription factor 4 isoform p

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 3. The resulting isoform (p) is shorter at the N-terminus compared to isoform c. Variants 16 and 19 encode the same isoform (p).
      Source sequence(s)
      AC013587, AC091103
      Consensus CDS
      CCDS82255.1
      UniProtKB/TrEMBL
      A0A1B0GWD5
      Conserved Domains (1) summary
      smart00353
      Location:444497
      HLH; helix loop helix domain
    16. NM_001348211.1NP_001335140.1  transcription factor 4 isoform q

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 3. The resulting isoform (q) is shorter at the N-terminus compared to isoform c.
      Source sequence(s)
      AC091103, AK096862, BM011452
      UniProtKB/Swiss-Prot
      P15884
      Conserved Domains (1) summary
      smart00353
      Location:532585
      HLH; helix loop helix domain
    17. NM_001348212.1NP_001335141.1  transcription factor 4 isoform i

      Status: REVIEWED

      Description
      Transcript Variant: This variant (18) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start codon, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 3. The resulting isoform (i) is shorter at the N-terminus and lacks a small internal segment compared to isoform c. Variants 9 and 18 encode the same isoform (i).
      Source sequence(s)
      AC091103, AK300612, DC358599
      UniProtKB/Swiss-Prot
      P15884
      Conserved Domains (1) summary
      smart00353
      Location:440493
      HLH; helix loop helix domain
    18. NM_001348213.1NP_001335142.1  transcription factor 4 isoform p

      Status: REVIEWED

      Description
      Transcript Variant: This variant (19) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 3. The resulting isoform (p) is shorter at the N-terminus compared to isoform c. Variants 16 and 19 encode the same isoform (p).
      Source sequence(s)
      AC091103, AK300612, BM011452, DC358599
      UniProtKB/Swiss-Prot
      P15884
      UniProtKB/TrEMBL
      A0A1B0GWD5
      Conserved Domains (1) summary
      smart00353
      Location:444497
      HLH; helix loop helix domain
    19. NM_001348214.1NP_001335143.1  transcription factor 4 isoform r

      Status: REVIEWED

      Description
      Transcript Variant: This variant (20) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at an alternate start codon, and uses two alternate in-frame splice sites, compared to variant 3. The resulting isoform (r) is shorter at the N-terminus and lacks several internal amino acids compared to isoform c
      Source sequence(s)
      AC091103, AK300038, DC298029, FR748216, FR748221
      UniProtKB/Swiss-Prot
      P15884
      Conserved Domains (1) summary
      smart00353
      Location:409462
      HLH; helix loop helix domain
    20. NM_001348215.1NP_001335144.1  transcription factor 4 isoform s

      Status: REVIEWED

      Description
      Transcript Variant: This variant (21) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 3. The resulting isoform (s) is shorter at the N-terminus compared to isoform c.
      Source sequence(s)
      AC013587, AC091103, AK096862, BM011452
      UniProtKB/Swiss-Prot
      P15884
      UniProtKB/TrEMBL
      A0A1B0GW91
      Conserved Domains (1) summary
      smart00353
      Location:358411
      HLH; helix loop helix domain
    21. NM_001348216.1NP_001335145.1  transcription factor 4 isoform t

      Status: REVIEWED

      Description
      Transcript Variant: This variant (22) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 3. The resulting isoform (t) is shorter at the N-terminus compared to isoform c.
      Source sequence(s)
      AC091103, AK096862, BM011452, DA664480
      UniProtKB/Swiss-Prot
      P15884
      Conserved Domains (1) summary
      smart00353
      Location:414467
      HLH; helix loop helix domain
    22. NM_001348217.1NP_001335146.1  transcription factor 4 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (23) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 3. The resulting isoform (d) is shorter at the N-terminus compared to isoform c. Variants 4, 23 and 24 all encode the same isoform (d).
      Source sequence(s)
      AC091103, AK299169, AK301144, BP293388
      UniProtKB/Swiss-Prot
      P15884
      Conserved Domains (1) summary
      smart00353
      Location:550603
      HLH; helix loop helix domain
    23. NM_001348218.1NP_001335147.1  transcription factor 4 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (24) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 3. The resulting isoform (d) is shorter at the N-terminus compared to isoform c. Variants 4, 23 and 24 all encode the same isoform (d).
      Source sequence(s)
      AC091103, AK299169, BP293388
      UniProtKB/Swiss-Prot
      P15884
      Conserved Domains (1) summary
      smart00353
      Location:550603
      HLH; helix loop helix domain
    24. NM_001348219.1NP_001335148.1  transcription factor 4 isoform m

      Status: REVIEWED

      Description
      Transcript Variant: This variant (25) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start codon, and uses an alternate in-frame splice site in the 3' coding region compared to variant 3. The resulting isoform (m) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform c. Variants 13 and 25 encode the same isoform (m).
      Source sequence(s)
      AC091103, AK301144, BP293388
      UniProtKB/Swiss-Prot
      P15884
      Conserved Domains (1) summary
      smart00353
      Location:546599
      HLH; helix loop helix domain
    25. NM_001348220.1NP_001335149.1  transcription factor 4 isoform u

      Status: REVIEWED

      Description
      Transcript Variant: This variant (26) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start codon, and uses two alternate in-frame splice sites compared to variant 3. The resulting isoform (u) is shorter at the N-terminus and lacks several internal amino acids compared to isoform c.
      Source sequence(s)
      AC091103, AK301144, BP293388
      UniProtKB/Swiss-Prot
      P15884
      UniProtKB/TrEMBL
      H3BPJ7
      Conserved Domains (1) summary
      smart00353
      Location:545598
      HLH; helix loop helix domain
    26. NM_003199.2NP_003190.1  transcription factor 4 isoform b

      See identical proteins and their annotated locations for NP_003190.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice site at the 3' end of an exon compared to variant 3. The resulting isoform (b, also known as TCF4-B-) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform c.
      Source sequence(s)
      AC091103, AK122765, BJ989626, M74719
      Consensus CDS
      CCDS11960.1
      UniProtKB/Swiss-Prot
      P15884
      UniProtKB/TrEMBL
      A0A024R2C0, B3KVA4
      Related
      ENSP00000348374.4, OTTHUMP00000163568, ENST00000356073.8, OTTHUMT00000256014
      Conserved Domains (1) summary
      smart00353
      Location:570623
      HLH; helix loop helix domain

    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_000018.10 Reference GRCh38.p7 Primary Assembly

      Range
      55222331..55635993 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025946.1XP_016881435.1  transcription factor 4 isoform X4

      UniProtKB/Swiss-Prot
      P15884
      Conserved Domains (1) summary
      smart00353
      Location:546599
      HLH; helix loop helix domain
    2. XM_017025950.1XP_016881439.1  transcription factor 4 isoform X13

    3. XM_017025948.1XP_016881437.1  transcription factor 4 isoform X5

      UniProtKB/TrEMBL
      H3BPJ7
      Related
      ENSP00000455346.1, OTTHUMP00000249857, ENST00000568740.5, OTTHUMT00000421635
      Conserved Domains (1) summary
      smart00353
      Location:545598
      HLH; helix loop helix domain
    4. XM_017025944.1XP_016881433.1  transcription factor 4 isoform X2

      Conserved Domains (1) summary
      smart00353
      Location:549602
      HLH; helix loop helix domain
    5. XM_017025945.1XP_016881434.1  transcription factor 4 isoform X3

    6. XM_017025940.1XP_016881429.1  transcription factor 4 isoform X10

      UniProtKB/Swiss-Prot
      P15884
      UniProtKB/TrEMBL
      A0A024R2C0
      Conserved Domains (1) summary
      smart00353
      Location:570623
      HLH; helix loop helix domain
    7. XM_006722536.2XP_006722599.1  transcription factor 4 isoform X6

      See identical proteins and their annotated locations for XP_006722599.1

      UniProtKB/Swiss-Prot
      P15884
      Related
      ENSP00000486670.1, OTTHUMP00000278649, ENST00000629387.2, OTTHUMT00000482352
      Conserved Domains (1) summary
      smart00353
      Location:574627
      HLH; helix loop helix domain
    8. XM_011526158.2XP_011524460.1  transcription factor 4 isoform X9

      See identical proteins and their annotated locations for XP_011524460.1

      Conserved Domains (1) summary
      smart00353
      Location:572625
      HLH; helix loop helix domain
    9. XM_017025938.1XP_016881427.1  transcription factor 4 isoform X7

      Related
      ENSP00000456125.1, OTTHUMP00000249887, ENST00000566279.5, OTTHUMT00000421677
      Conserved Domains (1) summary
      smart00353
      Location:573626
      HLH; helix loop helix domain
    10. XM_017025941.1XP_016881430.1  transcription factor 4 isoform X10

      UniProtKB/Swiss-Prot
      P15884
      UniProtKB/TrEMBL
      A0A024R2C0
      Related
      ENSP00000457649.1, OTTHUMP00000249856, ENST00000564999.5, OTTHUMT00000421634
      Conserved Domains (1) summary
      smart00353
      Location:570623
      HLH; helix loop helix domain
    11. XM_006722537.2XP_006722600.1  transcription factor 4 isoform X6

      See identical proteins and their annotated locations for XP_006722600.1

      UniProtKB/Swiss-Prot
      P15884
      Conserved Domains (1) summary
      smart00353
      Location:574627
      HLH; helix loop helix domain
    12. XM_017025934.1XP_016881423.1  transcription factor 4 isoform X2

      Conserved Domains (1) summary
      smart00353
      Location:549602
      HLH; helix loop helix domain
    13. XM_017025935.1XP_016881424.1  transcription factor 4 isoform X3

    14. XM_017025936.1XP_016881425.1  transcription factor 4 isoform X4

      UniProtKB/Swiss-Prot
      P15884
      Conserved Domains (1) summary
      smart00353
      Location:546599
      HLH; helix loop helix domain
    15. XM_005266739.3XP_005266796.2  transcription factor 4 isoform X1

      See identical proteins and their annotated locations for XP_005266796.2

      UniProtKB/Swiss-Prot
      P15884
      Conserved Domains (1) summary
      smart00353
      Location:550603
      HLH; helix loop helix domain
    16. XM_017025942.1XP_016881431.1  transcription factor 4 isoform X11

      Related
      ENSP00000454366.1, OTTHUMP00000249888, ENST00000567880.5, OTTHUMT00000421678
      Conserved Domains (1) summary
      smart00353
      Location:569622
      HLH; helix loop helix domain
    17. XM_005266741.3XP_005266798.1  transcription factor 4 isoform X7

      See identical proteins and their annotated locations for XP_005266798.1

      Conserved Domains (1) summary
      smart00353
      Location:573626
      HLH; helix loop helix domain
    18. XM_017025943.1XP_016881432.1  transcription factor 4 isoform X12

    19. XM_017025939.1XP_016881428.1  transcription factor 4 isoform X8

      Related
      ENSP00000490625.1, OTTHUMP00000282671, ENST00000638154.2, OTTHUMT00000490394
    20. XM_017025937.1XP_016881426.1  transcription factor 4 isoform X5

      UniProtKB/TrEMBL
      H3BPJ7
      Conserved Domains (1) summary
      smart00353
      Location:545598
      HLH; helix loop helix domain
    21. XM_017025947.1XP_016881436.1  transcription factor 4 isoform X4

      Conserved Domains (1) summary
      smart00353
      Location:546599
      HLH; helix loop helix domain
    22. XM_005266743.4XP_005266800.1  transcription factor 4 isoform X1

      Conserved Domains (1) summary
      smart00353
      Location:550603
      HLH; helix loop helix domain
    23. XM_005266745.3XP_005266802.1  transcription factor 4 isoform X2

      See identical proteins and their annotated locations for XP_005266802.1

      Conserved Domains (1) summary
      smart00353
      Location:549602
      HLH; helix loop helix domain
    24. XM_017025949.1XP_016881438.1  transcription factor 4 isoform X5

      Conserved Domains (1) summary
      smart00353
      Location:545598
      HLH; helix loop helix domain
    25. XM_006722538.2XP_006722601.1  transcription factor 4 isoform X2

      See identical proteins and their annotated locations for XP_006722601.1

      Conserved Domains (1) summary
      smart00353
      Location:549602
      HLH; helix loop helix domain
    26. XM_005266744.3XP_005266801.1  transcription factor 4 isoform X1

      Related
      ENSP00000455135.1, OTTHUMP00000249851, ENST00000568673.5, OTTHUMT00000421629
      Conserved Domains (1) summary
      smart00353
      Location:550603
      HLH; helix loop helix domain
    27. XM_017025951.1XP_016881440.1  transcription factor 4 isoform X15

    28. XM_005266747.3XP_005266804.1  transcription factor 4 isoform X14

      Conserved Domains (1) summary
      smart00353
      Location:532585
      HLH; helix loop helix domain
    29. XM_017025954.1XP_016881443.1  transcription factor 4 isoform X20

    30. XM_005266752.4XP_005266809.1  transcription factor 4 isoform X19

      See identical proteins and their annotated locations for XP_005266809.1

      UniProtKB/TrEMBL
      A0A1B0GWD5
      Conserved Domains (1) summary
      smart00353
      Location:444497
      HLH; helix loop helix domain
    31. XM_005266755.4XP_005266812.1  transcription factor 4 isoform X19

      See identical proteins and their annotated locations for XP_005266812.1

      UniProtKB/TrEMBL
      A0A1B0GWD5
      Conserved Domains (1) summary
      smart00353
      Location:444497
      HLH; helix loop helix domain
    32. XM_017025952.1XP_016881441.1  transcription factor 4 isoform X17

    33. XM_017025953.1XP_016881442.1  transcription factor 4 isoform X18

    34. XM_005266749.3XP_005266806.1  transcription factor 4 isoform X16

      See identical proteins and their annotated locations for XP_005266806.1

      Conserved Domains (1) summary
      smart00353
      Location:504557
      HLH; helix loop helix domain
    35. XM_017025956.1XP_016881445.1  transcription factor 4 isoform X21

      UniProtKB/Swiss-Prot
      P15884
      Related
      ENSP00000439827.2, OTTHUMP00000249858, ENST00000537856.7, OTTHUMT00000421637
      Conserved Domains (1) summary
      smart00353
      Location:440493
      HLH; helix loop helix domain
    36. XM_005266754.3XP_005266811.1  transcription factor 4 isoform X19

      Related
      ENSP00000490883.1, OTTHUMP00000282670, ENST00000636822.2, OTTHUMT00000490391
      Conserved Domains (1) summary
      smart00353
      Location:444497
      HLH; helix loop helix domain
    37. XM_011526160.2XP_011524462.1  transcription factor 4 isoform X19

      See identical proteins and their annotated locations for XP_011524462.1

      UniProtKB/TrEMBL
      A0A1B0GWD5
      Conserved Domains (1) summary
      smart00353
      Location:444497
      HLH; helix loop helix domain
    38. XM_017025955.1XP_016881444.1  transcription factor 4 isoform X20

    39. XM_017025957.1XP_016881446.1  transcription factor 4 isoform X23

      Conserved Domains (1) summary
      smart00353
      Location:409462
      HLH; helix loop helix domain
    40. XM_005266761.3XP_005266818.1  transcription factor 4 isoform X22

      See identical proteins and their annotated locations for XP_005266818.1

      Conserved Domains (1) summary
      smart00353
      Location:413466
      HLH; helix loop helix domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018929.2 Alternate CHM1_1.1

      Range
      52884825..53299013 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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