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TCF4 transcription factor 4 [ Homo sapiens (human) ]

Gene ID: 6925, updated on 23-Nov-2023

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; AllianceGenome:HGNC:11634
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; FCD2; 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
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Genomic context

See TCF4 in Genome Data Viewer
Location:
18q21.2
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (55222185..55635957, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (55425274..55839077, complement)
105.20220307 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 NANOG hESC enhancer GRCh37_chr18:52881645-52882231 Neighboring gene Sharpr-MPRA regulatory region 5538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13352 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13354 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13358 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9473 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:52936433-52937632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9474 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr18:53017604-53018299 Neighboring gene VISTA enhancer hs1537 Neighboring gene VISTA enhancer hs376 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:53106079-53106856 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:53155630-53156322 Neighboring gene TCF4 antisense RNA 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:53176779-53177297 Neighboring gene microRNA 4529 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:53249412-53250006 Neighboring gene transcription factor 4 repeat instability region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13360 Neighboring gene uncharacterized LOC105372126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:53295077-53295576 Neighboring gene uncharacterized LOC105372130 Neighboring gene ribosomal protein L21 pseudogene 126 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:53388528-53389317 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:53420614-53421813 Neighboring gene Sharpr-MPRA regulatory region 1296 Neighboring gene long intergenic non-protein coding RNA 1415 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:53500200-53501399 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:53517802-53518302 Neighboring gene uncharacterized LOC107985183 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:53525319-53525818

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
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 2020-07-08)

ClinGen Genome Curation Page
Haploinsufficency

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

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A comprehensive family-based replication study of schizophrenia genes.
EBI GWAS Catalog
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder.
EBI GWAS Catalog
Common variants conferring risk of schizophrenia.
EBI GWAS Catalog
E2-2 protein and Fuchs's corneal dystrophy.
EBI GWAS Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
EBI GWAS Catalog
Genome-wide association analysis in primary sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4.
EBI GWAS Catalog
Genome-wide association study identifies five new schizophrenia loci.
EBI GWAS Catalog
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
EBI GWAS Catalog
Genome-wide meta-analysis for severe diabetic retinopathy.
EBI GWAS Catalog
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
EBI GWAS Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
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
 
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 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 DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
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 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
 
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 
part_of chromatin IDA
Inferred from Direct Assay
more info
PubMed 
part_of 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
 
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/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/TrEMBL
    A0A1B0GVR6, 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/TrEMBL
    B3KVA4
    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/TrEMBL
    B3KVA4, 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/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/TrEMBL
    B3KVA4
    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/TrEMBL
    B3KVA4
    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/TrEMBL
    B3KVA4
    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/TrEMBL
    B3KVA4
    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/TrEMBL
    B3KVA4
    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
    UniProtKB/TrEMBL
    B3KVA4
    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, B3KVA4
    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/TrEMBL
    B3KVA4
    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/TrEMBL
    B3KVA4
    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
  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/TrEMBL
    A0A1B0GWD5, B3KVA4
    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
  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/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/TrEMBL
    B3KVA4
    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/TrEMBL
    B3KVA4
    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/TrEMBL
    B3KVA4
    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/TrEMBL
    B3KVA4, 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
    Consensus CDS
    CCDS42438.1
    UniProtKB/TrEMBL
    B3KVA4
    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
    Consensus CDS
    CCDS42438.1
    UniProtKB/TrEMBL
    B3KVA4
    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
    UniProtKB/TrEMBL
    B3KVA4
    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
    UniProtKB/TrEMBL
    B3KVA4
    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
    Consensus CDS
    CCDS11960.1
    UniProtKB/Swiss-Prot
    B3KT62, B3KUC0, B4DT37, B4DUG3, B7Z5M6, B7Z6Y1, G0LNT9, G0LNU0, G0LNU1, G0LNU2, G0LNU4, G0LNU5, G0LNU8, G0LNU9, G0LNV0, G0LNV1, G0LNV2, H3BPQ1, P15884, Q08AP2, Q08AP3, Q15439, Q15440, Q15441
    UniProtKB/TrEMBL
    B3KVA4
    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
    Consensus CDS
    CCDS11960.1
    UniProtKB/Swiss-Prot
    B3KT62, B3KUC0, B4DT37, B4DUG3, B7Z5M6, B7Z6Y1, G0LNT9, G0LNU0, G0LNU1, G0LNU2, G0LNU4, G0LNU5, G0LNU8, G0LNU9, G0LNV0, G0LNV1, G0LNV2, H3BPQ1, P15884, Q08AP2, Q08AP3, Q15439, Q15440, Q15441
    UniProtKB/TrEMBL
    B3KVA4
    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
    UniProtKB/TrEMBL
    B3KVA4
    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
    UniProtKB/TrEMBL
    B3KVA4
    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
    Consensus CDS
    CCDS58629.1
    UniProtKB/TrEMBL
    B3KVA4
    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
    UniProtKB/TrEMBL
    B3KVA4
    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
    UniProtKB/TrEMBL
    B3KVA4
    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
    UniProtKB/TrEMBL
    B3KVA4
    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
    UniProtKB/TrEMBL
    B3KVA4
    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
    UniProtKB/TrEMBL
    B3KVA4
    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
    UniProtKB/TrEMBL
    B3KVA4
    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
    Consensus CDS
    CCDS77192.1
    UniProtKB/TrEMBL
    B3KVA4
    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
    Consensus CDS
    CCDS77192.1
    UniProtKB/TrEMBL
    B3KVA4
    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
    Consensus CDS
    CCDS86672.1
    UniProtKB/TrEMBL
    B3KVA4, H3BPJ7
    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
    Consensus CDS
    CCDS86672.1
    UniProtKB/TrEMBL
    B3KVA4, 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
  45. NM_001369586.1NP_001356515.1  transcription factor 4 isoform z

    Status: REVIEWED

    Source sequence(s)
    AC013587, AC018994, AC090684, AC091103
    UniProtKB/TrEMBL
    B3KVA4
    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
    B3KT62, B3KUC0, B4DT37, B4DUG3, B7Z5M6, B7Z6Y1, G0LNT9, G0LNU0, G0LNU1, G0LNU2, G0LNU4, G0LNU5, G0LNU8, G0LNU9, G0LNV0, G0LNV1, G0LNV2, H3BPQ1, P15884, Q08AP2, Q08AP3, Q15439, Q15440, Q15441
    UniProtKB/TrEMBL
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    55425274..55839077 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)