Format

Send to:

Choose Destination

TCF4 transcription factor 4 [ Homo sapiens (human) ]

Gene ID: 6925, updated on 14-Jun-2018
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]
Expression
Ubiquitous expression in brain (RPKM 17.0), fat (RPKM 14.9) and 24 other tissues See more
Orthologs
See TCF4 in Genome Data Viewer
Location:
18q21.2
Exon count:
34
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 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

  • 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 IBA
Inferred from Biological aspect of Ancestor
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 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 proximal promoter sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA
Inferred from Sequence Alignment
more info
 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
Inferred from Sequence Model
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
Non-traceable Author Statement
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
PubMed 
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
PubMed 
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
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
PubMed 
positive regulation of neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
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 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 
beta-catenin-TCF7L2 complex IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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
    Related
    ENSP00000490625.1, ENST00000638154.2
    Conserved Domains (1) summary
    smart00353
    Location:573626
    HLH; helix loop helix domain
  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
    Related
    ENSP00000494380.1, ENST00000643689.1
    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
    Consensus CDS
    CCDS58626.1
    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
    Consensus CDS
    CCDS82255.1
    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
    Consensus CDS
    CCDS86671.1
    UniProtKB/Swiss-Prot
    P15884
    UniProtKB/TrEMBL
    A0A1B0GW91
    Related
    ENSP00000490832.1, ENST00000637169.2
    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
    Consensus CDS
    CCDS58629.1
    UniProtKB/Swiss-Prot
    P15884
    Related
    ENSP00000455135.1, ENST00000568673.5
    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
    Consensus CDS
    CCDS58629.1
    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
    Consensus CDS
    CCDS77192.1
    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
    Consensus CDS
    CCDS86672.1
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017025946.2XP_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_017025950.2XP_016881439.1  transcription factor 4 isoform X11

  3. XM_017025948.2XP_016881437.1  transcription factor 4 isoform X5

    UniProtKB/TrEMBL
    H3BPJ7
    Related
    ENSP00000455346.1, OTTHUMP00000249857, ENST00000568740.5
    Conserved Domains (1) summary
    smart00353
    Location:545598
    HLH; helix loop helix domain
  4. XM_017025944.2XP_016881433.1  transcription factor 4 isoform X2

    Conserved Domains (1) summary
    smart00353
    Location:549602
    HLH; helix loop helix domain
  5. XM_017025945.2XP_016881434.1  transcription factor 4 isoform X3

    Conserved Domains (1) summary
    smart00353
    Location:549602
    HLH; helix loop helix domain
  6. XM_017025940.2XP_016881429.1  transcription factor 4 isoform X8

    UniProtKB/Swiss-Prot
    P15884
    UniProtKB/TrEMBL
    A0A024R2C0
    Conserved Domains (1) summary
    smart00353
    Location:570623
    HLH; helix loop helix domain
  7. XM_006722536.3XP_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
    Conserved Domains (1) summary
    smart00353
    Location:574627
    HLH; helix loop helix domain
  8. XM_017025938.2XP_016881427.1  transcription factor 4 isoform X7

    Related
    ENSP00000456125.1, OTTHUMP00000249887, ENST00000566279.5
    Conserved Domains (1) summary
    smart00353
    Location:573626
    HLH; helix loop helix domain
  9. XM_017025941.2XP_016881430.1  transcription factor 4 isoform X8

    UniProtKB/Swiss-Prot
    P15884
    UniProtKB/TrEMBL
    A0A024R2C0
    Related
    ENSP00000457649.1, OTTHUMP00000249856, ENST00000564999.5
    Conserved Domains (1) summary
    smart00353
    Location:570623
    HLH; helix loop helix domain
  10. XM_006722537.3XP_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
  11. XM_017025934.2XP_016881423.1  transcription factor 4 isoform X2

    Conserved Domains (1) summary
    smart00353
    Location:549602
    HLH; helix loop helix domain
  12. XM_017025935.2XP_016881424.1  transcription factor 4 isoform X3

    Conserved Domains (1) summary
    smart00353
    Location:549602
    HLH; helix loop helix domain
  13. XM_017025936.2XP_016881425.1  transcription factor 4 isoform X4

    UniProtKB/Swiss-Prot
    P15884
    Conserved Domains (1) summary
    smart00353
    Location:546599
    HLH; helix loop helix domain
  14. XM_005266739.4XP_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
  15. XM_017025942.2XP_016881431.1  transcription factor 4 isoform X9

    Related
    OTTHUMP00000249888
    Conserved Domains (1) summary
    smart00353
    Location:569622
    HLH; helix loop helix domain
  16. XM_005266741.4XP_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
  17. XM_017025943.2XP_016881432.1  transcription factor 4 isoform X10

    Conserved Domains (1) summary
    smart00353
    Location:569622
    HLH; helix loop helix domain
  18. XM_017025937.2XP_016881426.1  transcription factor 4 isoform X5

    UniProtKB/TrEMBL
    H3BPJ7
    Conserved Domains (1) summary
    smart00353
    Location:545598
    HLH; helix loop helix domain
  19. XM_024451240.1XP_024307008.1  transcription factor 4 isoform X3

    Conserved Domains (1) summary
    smart00353
    Location:549602
    HLH; helix loop helix domain
  20. XM_005266745.4XP_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
  21. 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
    smart00353
    Location:549602
    HLH; helix loop helix domain
  22. XM_017025951.2XP_016881440.1  transcription factor 4 isoform X12

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

    Conserved Domains (1) summary
    smart00353
    Location:495548
    HLH; helix loop helix domain
  24. XM_017025954.2XP_016881443.1  transcription factor 4 isoform X18

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

    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
  26. 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
    smart00353
    Location:444497
    HLH; helix loop helix domain
  27. XM_017025952.2XP_016881441.1  transcription factor 4 isoform X14

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

  29. 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
    smart00353
    Location:504557
    HLH; helix loop helix domain
  30. XM_017025956.2XP_016881445.1  transcription factor 4 isoform X19

    UniProtKB/Swiss-Prot
    P15884
    Related
    ENSP00000439827.2, OTTHUMP00000249858, ENST00000537856.7
    Conserved Domains (1) summary
    smart00353
    Location:440493
    HLH; helix loop helix domain
  31. 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
Support Center