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    TCF4 transcription factor 4 [ Homo sapiens (human) ]

    Gene ID: 6925, updated on 28-Jun-2021

    Summary

    Official Symbol
    TCF4provided by HGNC
    Official Full Name
    transcription factor 4provided by HGNC
    Primary source
    HGNC:HGNC:11634
    See related
    Ensembl:ENSG00000196628 MIM:602272
    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; CDG2T; 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 (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 brain (RPKM 17.0), fat (RPKM 14.9) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TCF4 in Genome Data Viewer
    Location:
    18q21.2
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (55222185..55635957, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (52889416..53303188, 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 VISTA enhancer hs1537 Neighboring gene VISTA enhancer hs376 Neighboring gene TCF4 antisense RNA 1 Neighboring gene microRNA 4529 Neighboring gene transcription factor 4 repeat instability region 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

    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
    A comprehensive family-based replication study of schizophrenia genes.
    GeneReviews: Not available
    Biological insights from 108 schizophrenia-associated genetic loci.
    GeneReviews: Not available
    Common polygenic variation contributes to risk of schizophrenia and bipolar disorder.
    GeneReviews: Not available
    Common variants conferring risk of schizophrenia.
    GeneReviews: Not available
    Corneal dystrophy, Fuchs endothelial, 3
    MedGen: C2750451 OMIM: 613267 GeneReviews: Not available
    Compare labs
    E2-2 protein and Fuchs's corneal dystrophy.
    GeneReviews: Not available
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    GeneReviews: Not available
    Genome-wide association analysis in primary sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4.
    GeneReviews: Not available
    Genome-wide association study identifies five new schizophrenia loci.
    GeneReviews: Not available
    Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
    GeneReviews: Not available
    Genome-wide meta-analysis for severe diabetic retinopathy.
    GeneReviews: Not available
    Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
    GeneReviews: Not available
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    GeneReviews: Not available
    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 2020-07-08)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-07-08)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC149723, MGC149724

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables E-box binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables TFIIB-class transcription factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables beta-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein-DNA complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of beta-catenin-TCF complex IPI
    Inferred from Physical Interaction
    more info
     
    part_of beta-catenin-TCF7L2 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of transcription regulator complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 

    General protein information

    Preferred Names
    transcription factor 4
    Names
    SL3-3 enhancer factor 2
    class B basic helix-loop-helix protein 19
    immunoglobulin transcription factor 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      52802..418809
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001083962.2NP_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, ENST00000354452.8
      Conserved Domains (1) summary
      cd18945
      Location:562646
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    2. NM_001243226.3NP_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, ENST00000398339.5
      Conserved Domains (1) summary
      smart00353
      Location:676729
      HLH; helix loop helix domain
    3. NM_001243227.2NP_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, ENST00000537578.5
      Conserved Domains (1) summary
      cd18945
      Location:538622
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    4. NM_001243228.2NP_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, ENST00000564403.6
      Conserved Domains (1) summary
      smart00353
      Location:580633
      HLH; helix loop helix domain
    5. NM_001243230.2NP_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, ENST00000566286.5
      Conserved Domains (1) summary
      smart00353
      Location:567620
      HLH; helix loop helix domain
    6. NM_001243231.2NP_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)
      AC018994, AC091103, AK096862
      Consensus CDS
      CCDS58628.1
      UniProtKB/Swiss-Prot
      P15884
      Related
      ENSP00000439656.1, ENST00000543082.5
      Conserved Domains (1) summary
      cd18945
      Location:516600
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    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, ENST00000544241.6
      Conserved Domains (1) summary
      cd18945
      Location:491575
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    8. NM_001243233.2NP_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, ENST00000561992.5
      Conserved Domains (1) summary
      cd18945
      Location:428512
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    9. NM_001243234.2NP_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, ENST00000457482.7
      Conserved Domains (1) summary
      cd18945
      Location:402486
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    10. NM_001243235.2NP_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, ENST00000570287.6
      Conserved Domains (1) summary
      cd18945
      Location:398482
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    11. NM_001243236.2NP_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, ENST00000561831.7
      Conserved Domains (1) summary
      cd18945
      Location:398482
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    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, ENST00000540999.5
      Conserved Domains (1) summary
      cd18945
      Location:534618
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    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, ENST00000564228.5
      Conserved Domains (1) summary
      cd18945
      Location:487571
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    14. NM_001330604.3NP_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
      Related
      ENSP00000490625.2, ENST00000638154.3
      Conserved Domains (1) summary
      cd18945
      Location:561645
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    15. NM_001330605.3NP_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
      Related
      ENSP00000494380.1, ENST00000643689.1
      Conserved Domains (1) summary
      cd18945
      Location:432516
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    16. NM_001348211.2NP_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)
      AC018994, AC091103, AK096862, BM011452
      UniProtKB/Swiss-Prot
      P15884
      Conserved Domains (1) summary
      cd18945
      Location:520604
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    17. NM_001348212.2NP_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
      Consensus CDS
      CCDS58626.1
      UniProtKB/Swiss-Prot
      P15884
      Conserved Domains (1) summary
      cd18945
      Location:428512
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    18. NM_001348213.2NP_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
      Consensus CDS
      CCDS82255.1
      UniProtKB/Swiss-Prot
      P15884
      UniProtKB/TrEMBL
      A0A1B0GWD5
      Conserved Domains (1) summary
      cd18945
      Location:432516
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    19. NM_001348214.2NP_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_001348215.2NP_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
      Consensus CDS
      CCDS86671.1
      UniProtKB/Swiss-Prot
      P15884
      UniProtKB/TrEMBL
      A0A1B0GW91
      Related
      ENSP00000490832.1, ENST00000637169.2
      Conserved Domains (1) summary
      cd18945
      Location:346430
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    21. NM_001348216.2NP_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
      Consensus CDS
      CCDS58629.1
      UniProtKB/Swiss-Prot
      P15884
      Related
      ENSP00000455135.1, ENST00000568673.5
      Conserved Domains (1) summary
      cd18945
      Location:538622
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    23. NM_001348218.2NP_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)
      AC018994, AC091103, AK299169, BP293388
      Consensus CDS
      CCDS58629.1
      UniProtKB/Swiss-Prot
      P15884
      Conserved Domains (1) summary
      cd18945
      Location:538622
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    24. NM_001348219.2NP_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)
      AC018994, AC091103, AK301144, BP293388
      Consensus CDS
      CCDS77192.1
      UniProtKB/Swiss-Prot
      P15884
      Conserved Domains (1) summary
      cd18945
      Location:534618
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    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
      Consensus CDS
      CCDS86672.1
      UniProtKB/Swiss-Prot
      P15884
      UniProtKB/TrEMBL
      H3BPJ7
      Conserved Domains (1) summary
      cd18945
      Location:533617
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    26. NM_001369567.1NP_001356496.1  transcription factor 4 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC013587, AC018994, AC090684, AC091103
      Related
      ENSP00000486670.1, ENST00000629387.2
      Conserved Domains (1) summary
      cd18945
      Location:562646
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    27. NM_001369568.1NP_001356497.1  transcription factor 4 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC013587, AC018994, AC090684, AC091103
      Conserved Domains (1) summary
      cd18945
      Location:562646
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    28. NM_001369569.1NP_001356498.1  transcription factor 4 isoform v

      Status: REVIEWED

      Source sequence(s)
      AC013587, AC018994, AC090684, AC091103
      Related
      ENSP00000456125.1, ENST00000566279.5
      Conserved Domains (1) summary
      cd18945
      Location:561645
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    29. NM_001369570.1NP_001356499.1  transcription factor 4 isoform v

      Status: REVIEWED

      Source sequence(s)
      AC013587, AC018994, AC090684, AC091103
      Conserved Domains (1) summary
      cd18945
      Location:561645
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    30. NM_001369571.1NP_001356500.1  transcription factor 4 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC013587, AC018994, AC090684, AC091103
      Conserved Domains (1) summary
      cd18945
      Location:558642
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    31. NM_001369572.1NP_001356501.1  transcription factor 4 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC013587, AC018994, AC090684, AC091103
      Related
      ENSP00000457649.1, ENST00000564999.5
      Conserved Domains (1) summary
      cd18945
      Location:558642
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    32. NM_001369573.1NP_001356502.1  transcription factor 4 isoform x

      Status: REVIEWED

      Source sequence(s)
      AC013587, AC018994, AC090684, AC091103
      Related
      ENSP00000478549.1, ENST00000616053.4
      Conserved Domains (1) summary
      cd18945
      Location:557641
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    33. NM_001369574.1NP_001356503.1  transcription factor 4 isoform 27

      Status: REVIEWED

      Source sequence(s)
      AC013587, AC018994, AC090684, AC091103
      Conserved Domains (1) summary
      cd18945
      Location:557641
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    34. NM_001369575.1NP_001356504.1  transcription factor 4 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC013587, AC018994, AC090684, AC091103
      Conserved Domains (1) summary
      cd18945
      Location:538622
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    35. NM_001369576.1NP_001356505.1  transcription factor 4 isoform y

      Status: REVIEWED

      Source sequence(s)
      AC013587, AC018994, AC090684, AC091103
      Conserved Domains (1) summary
      cd18945
      Location:537621
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    36. NM_001369577.1NP_001356506.1  transcription factor 4 isoform 28

      Status: REVIEWED

      Source sequence(s)
      AC013587, AC018994, AC090684, AC091103
      Conserved Domains (1) summary
      cd18945
      Location:537621
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    37. NM_001369578.1NP_001356507.1  transcription factor 4 isoform y

      Status: REVIEWED

      Source sequence(s)
      AC013587, AC018994, AC090684, AC091103
      Conserved Domains (1) summary
      cd18945
      Location:537621
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    38. NM_001369579.1NP_001356508.1  transcription factor 4 isoform 28

      Status: REVIEWED

      Source sequence(s)
      AC013587, AC018994, AC090684, AC091103
      Conserved Domains (1) summary
      cd18945
      Location:537621
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    39. NM_001369580.1NP_001356509.1  transcription factor 4 isoform 28

      Status: REVIEWED

      Source sequence(s)
      AC013587, AC018994, AC090684, AC091103
      Conserved Domains (1) summary
      cd18945
      Location:537621
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    40. NM_001369581.1NP_001356510.1  transcription factor 4 isoform y

      Status: REVIEWED

      Source sequence(s)
      AC013587, AC018994, AC090684, AC091103
      Conserved Domains (1) summary
      cd18945
      Location:537621
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    41. NM_001369582.1NP_001356511.1  transcription factor 4 isoform m

      Status: REVIEWED

      Source sequence(s)
      AC013587, AC018994, AC090684, AC091103
      Conserved Domains (1) summary
      cd18945
      Location:534618
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    42. NM_001369583.1NP_001356512.1  transcription factor 4 isoform m

      Status: REVIEWED

      Source sequence(s)
      AC013587, AC018994, AC090684, AC091103
      Conserved Domains (1) summary
      cd18945
      Location:534618
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    43. NM_001369584.1NP_001356513.1  transcription factor 4 isoform u

      Status: REVIEWED

      Source sequence(s)
      AC013587, AC018994, AC090684, AC091103
      Related
      ENSP00000455346.1, ENST00000568740.5
      Conserved Domains (1) summary
      cd18945
      Location:533617
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    44. NM_001369585.1NP_001356514.1  transcription factor 4 isoform u

      Status: REVIEWED

      Source sequence(s)
      AC013587, AC018994, AC090684, AC091103
      Conserved Domains (1) summary
      cd18945
      Location:533617
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    45. NM_001369586.1NP_001356515.1  transcription factor 4 isoform z

      Status: REVIEWED

      Source sequence(s)
      AC013587, AC018994, AC090684, AC091103
      Conserved Domains (1) summary
      smart00353
      Location:551604
      HLH; helix loop helix domain
    46. NM_003199.3NP_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, BJ989626, M74719
      Consensus CDS
      CCDS11960.1
      UniProtKB/Swiss-Prot
      P15884
      UniProtKB/TrEMBL
      A0A024R2C0, B3KVA4
      Related
      ENSP00000348374.4, ENST00000356073.8
      Conserved Domains (1) summary
      cd18945
      Location:558642
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

      Range
      55222185..55635957 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025950.2XP_016881439.1  transcription factor 4 isoform X11

    2. XM_006722538.3XP_006722601.1  transcription factor 4 isoform X2

      See identical proteins and their annotated locations for XP_006722601.1

      Conserved Domains (1) summary
      cd18945
      Location:537621
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    3. XM_017025951.2XP_016881440.1  transcription factor 4 isoform X12

    4. XM_024451241.1XP_024307009.1  transcription factor 4 isoform X16

      Conserved Domains (1) summary
      cd18945
      Location:483567
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    5. XM_017025954.2XP_016881443.1  transcription factor 4 isoform X18

    6. XM_005266752.5XP_005266809.1  transcription factor 4 isoform X17

      See identical proteins and their annotated locations for XP_005266809.1

      UniProtKB/TrEMBL
      A0A1B0GWD5
      Related
      ENSP00000501758.1, ENST00000675707.1
      Conserved Domains (1) summary
      cd18945
      Location:432516
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    7. XM_005266755.5XP_005266812.1  transcription factor 4 isoform X17

      See identical proteins and their annotated locations for XP_005266812.1

      UniProtKB/TrEMBL
      A0A1B0GWD5
      Conserved Domains (1) summary
      cd18945
      Location:432516
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    8. XM_017025952.2XP_016881441.1  transcription factor 4 isoform X14

    9. XM_017025953.2XP_016881442.1  transcription factor 4 isoform X15

    10. XM_005266749.4XP_005266806.1  transcription factor 4 isoform X13

      See identical proteins and their annotated locations for XP_005266806.1

      Conserved Domains (1) summary
      cd18945
      Location:492576
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    11. XM_017025956.2XP_016881445.1  transcription factor 4 isoform X19

      UniProtKB/Swiss-Prot
      P15884
      Related
      ENSP00000439827.2, ENST00000537856.7
      Conserved Domains (1) summary
      cd18945
      Location:428512
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    12. XM_005266761.4XP_005266818.1  transcription factor 4 isoform X20

      See identical proteins and their annotated locations for XP_005266818.1

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