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Protein

Transcription factor 4

Gene

TCF4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Binds to the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription (By similarity). Preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, DNA-binding
Biological processDifferentiation, Neurogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-375170 CDO in myogenesis

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
P15884

SIGNOR Signaling Network Open Resource

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SIGNORi
P15884

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Transcription factor 4
Short name:
TCF-4
Alternative name(s):
Class B basic helix-loop-helix protein 19
Short name:
bHLHb19
Immunoglobulin transcription factor 2
Short name:
ITF-2
SL3-3 enhancer factor 2
Short name:
SEF-2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TCF4
Synonyms:BHLHB19, ITF2, SEF2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 18

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000196628.13

Human Gene Nomenclature Database

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HGNCi
HGNC:11634 TCF4

Online Mendelian Inheritance in Man (OMIM)

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MIMi
602272 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P15884

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Pitt-Hopkins syndrome (PTHS)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by mental retardation, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea. Features include intellectual disability with severe speech impairment, normal growth parameters at birth, postnatal microcephaly, breathing anomalies, severe motor developmental delay, motor incoordination, ocular anomalies, constipation, seizures, typical behavior and subtle brain abnormalities.
See also OMIM:610954
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_066839358G → V in PTHS; also expressed in the nucleus with a pattern indistinguishable from the wild-type; does not have a major impact on homodimer formation; affects transcriptional activity in a context-dependent manner. 2 Publications1
Natural variantiVAR_078644385 – 667Missing in PTHS. 1 PublicationAdd BLAST283
Natural variantiVAR_058632535D → G in PTHS; loss of function; also expressed in the nucleus with a pattern indistinguishable from the wild-type; does not have a major impact on homodimer formation; affects transcriptional activity in a context-dependent manner. 2 Publications1
Natural variantiVAR_066970565R → W in PTHS. 1 Publication1
Natural variantiVAR_058633572R → G in PTHS; loss of function. 2 Publications1
Natural variantiVAR_066971572R → Q in PTHS. 1 PublicationCorresponds to variant dbSNP:rs1057521070Ensembl.1
Natural variantiVAR_066972574R → H in PTHS. 1 PublicationCorresponds to variant dbSNP:rs121909123Ensembl.1
Natural variantiVAR_066840574R → P in PTHS; mislocalized to small spherical punctae that are dispersed throughout the nucleus; can attenuate homo- and heterodimer formation; affects transcriptional activity in a context-dependent manner. 3 PublicationsCorresponds to variant dbSNP:rs121909123Ensembl.1
Natural variantiVAR_034704576R → Q in PTHS; loss of function. 3 PublicationsCorresponds to variant dbSNP:rs121909121Ensembl.1
Natural variantiVAR_034705576R → W in PTHS; mislocalized to small spherical punctae that are dispersed throughout the nucleus; can attenuate homo- and heterodimer formation; affects transcriptional activity in a context-dependent manner. 4 PublicationsCorresponds to variant dbSNP:rs121909120Ensembl.1
Natural variantiVAR_066841578R → H in PTHS. 1 Publication1
Natural variantiVAR_066973578R → P in PTHS. 2 Publications1
Natural variantiVAR_066974583A → P in PTHS. 1 Publication1
Natural variantiVAR_058634610A → V in PTHS; loss of function; mislocalized to small spherical punctae that are dispersed throughout the nucleus; can attenuate homo- and heterodimer formation; affects transcriptional activity in a context-dependent manner. 3 Publications1
Corneal dystrophy, Fuchs endothelial, 3 (FECD3)3 Publications
The disease is caused by mutations affecting the gene represented in this entry. Causative mutations are heterozygous TCF4 intronic trinucleotide repeat expansions (CTG)n.3 Publications
Disease descriptionA late-onset form of Fuchs endothelial corneal dystrophy, a disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.
See also OMIM:613267
Defects in TCF4 may cause autosomal dominant symmetrical acral keratoderma (SAK)syndrome. Symmetrical acral keratodermadefines is characterized by brown/black hyperkeratotic patches symmetrically distributed on the acral regions, especially the wrists, ankles, dorsa of hands, fingers and feet affects young and middle aged men. Patients have epidermis thickened by acanthosis and compact stratum corneum(PubMed:28921696).1 Publication

Keywords - Diseasei

Corneal dystrophy, Disease mutation, Epilepsy, Mental retardation, Primary microcephaly

Organism-specific databases

DisGeNET

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DisGeNETi
6925

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
TCF4

MalaCards human disease database

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MalaCardsi
TCF4
MIMi610954 phenotype
613267 phenotype

Open Targets

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OpenTargetsi
ENSG00000196628

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
178469 Autosomal dominant non-syndromic intellectual disability
98974 Fuchs endothelial corneal dystrophy
2896 Pitt-Hopkins syndrome
171 Primary sclerosing cholangitis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA164742621

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL3885541

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
TCF4

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001272561 – 667Transcription factor 4Add BLAST667

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei66PhosphoserineCombined sources1
Modified residuei87PhosphoserineCombined sources1
Modified residuei92PhosphoserineCombined sources1
Modified residuei372PhosphoserineBy similarity1
Modified residuei515PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

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MaxQBi
P15884

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P15884

PeptideAtlas

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PeptideAtlasi
P15884

PRoteomics IDEntifications database

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PRIDEi
P15884

ProteomicsDB human proteome resource

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ProteomicsDBi
53237
53238 [P15884-2]
53239 [P15884-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P15884

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P15884

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in adult heart, brain, placenta, skeletal muscle and to a lesser extent in the lung. In developing embryonic tissues, expression mostly occurs in the brain.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000196628 Expressed in 250 organ(s), highest expression level in cerebellum

CleanEx database of gene expression profiles

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CleanExi
HS_TCF4

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P15884 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P15884 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB020722
HPA025958

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein. Forms homo- or heterooligomers with myogenin. Interacts with HIVEP2. Interacts with NEUROD2 (By similarity). Interacts with AGBL1. Interacts with BHLHA9.By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
itself3EBI-533224,EBI-533224
Q53FW83EBI-533224,EBI-10242473
AESQ081173EBI-533224,EBI-717810
AQP1P299723EBI-533224,EBI-745213
ARHGEF1Q928883EBI-533224,EBI-465400
ARMC7Q9H6L43EBI-533224,EBI-742909
ASCL1P505537EBI-533224,EBI-957042
ASCL4Q6XD763EBI-533224,EBI-10254793
ASPSCR1Q9BZE93EBI-533224,EBI-1993677
ATP6V1B2P212813EBI-533224,EBI-4290814
BCAS2O759343EBI-533224,EBI-1050106
BCL2L2Q928433EBI-533224,EBI-707714
C1orf109Q9NX043EBI-533224,EBI-8643161
CABP5Q9NP863EBI-533224,EBI-10311131
CDKN1AP389363EBI-533224,EBI-375077
CDKN2CP427733EBI-533224,EBI-711290
CFAP77Q6ZQR23EBI-533224,EBI-10255140
CHAF1AQ131113EBI-533224,EBI-1020839
CHCHD2Q9Y6H13EBI-533224,EBI-2321769
CHIC2Q9UKJ53EBI-533224,EBI-741528
CKS1BP610243EBI-533224,EBI-456371
CTNNB1P3522222EBI-533224,EBI-491549
ctnnb1P262332EBI-533224,EBI-7373758From Xenopus laevis.
DDX6P261963EBI-533224,EBI-351257
DEF6Q9H4E73EBI-533224,EBI-745369
DMRT3Q9NQL93EBI-533224,EBI-9679045
EFHC1Q5JVL46EBI-533224,EBI-743105
EIF4E2O605733EBI-533224,EBI-398610
EIF4EBP1Q135413EBI-533224,EBI-74090
EPB41L3Q9Y2J2-33EBI-533224,EBI-10326138
EPHB6O15197-23EBI-533224,EBI-10182490
EXOSC1Q9Y3B23EBI-533224,EBI-371892
FAHP169303EBI-533224,EBI-4397076
FAM124BQ9H5Z63EBI-533224,EBI-741626
FAM74A6Q5TZK33EBI-533224,EBI-10247271
FERD3LQ96RJ63EBI-533224,EBI-10183007
FERMT2Q96AC16EBI-533224,EBI-4399465
FLAD1Q8NFF53EBI-533224,EBI-742815
FLNAP21333-23EBI-533224,EBI-9641086
FRS3O435593EBI-533224,EBI-725515
GEMP550403EBI-533224,EBI-744104
GLRX3O760033EBI-533224,EBI-374781
GNG10P501513EBI-533224,EBI-10211741
GOLGA8DPQ0D2H93EBI-533224,EBI-10181276
GOLGA8GQ08AF83EBI-533224,EBI-10181260
GORASP2Q9H8Y83EBI-533224,EBI-739467
GUCD1Q96NT33EBI-533224,EBI-8293751
HAND2P612963EBI-533224,EBI-10218584
HAT1O149293EBI-533224,EBI-2339359
HEL-S-69pV9HWF53EBI-533224,EBI-10330249
HSPB7Q9UBY93EBI-533224,EBI-739361
ID1P411343EBI-533224,EBI-1215527
ID3Q025354EBI-533224,EBI-1387094
INSI3WAC93EBI-533224,EBI-10178524
KCTD14Q9BQ133EBI-533224,EBI-10189448
KLC3Q6P5973EBI-533224,EBI-1643885
KLHL32Q5THT13EBI-533224,EBI-10247181
LASP1Q148473EBI-533224,EBI-742828
LENG1Q96BZ83EBI-533224,EBI-726510
LGALS14Q8TCE93EBI-533224,EBI-10274069
LHX4A0A0S2Z5S93EBI-13636688,EBI-16429099
LMO1P258003EBI-533224,EBI-8639312
LMO4P619683EBI-533224,EBI-2798728
LNPEPQ9UIQ63EBI-533224,EBI-2805360
MAD2L2Q9UI953EBI-533224,EBI-77889
MAGOHBQ96A723EBI-533224,EBI-746778
MAPKBP1O603363EBI-533224,EBI-947402
MATN3O152323EBI-533224,EBI-6262458
MEMO1Q9Y3163EBI-533224,EBI-1104564
MLLT6Q6P2C63EBI-533224,EBI-5773143
MORN4Q8NDC43EBI-533224,EBI-10269566
MRFAP1L1Q96HT83EBI-533224,EBI-748896
MRPL10Q7Z7H83EBI-533224,EBI-723524
MSRB3Q8IXL73EBI-533224,EBI-8634060
MYO5BQ9ULV03EBI-533224,EBI-311356
NCK2O436393EBI-533224,EBI-713635
NDOR1Q9UHB43EBI-533224,EBI-10249760
NEK6Q9HC983EBI-533224,EBI-740364
NEK8Q86SG63EBI-533224,EBI-1752987
NEU4Q8WWR8-23EBI-533224,EBI-10277551
NEUROG1Q928863EBI-533224,EBI-10279647
NME7Q9Y5B83EBI-533224,EBI-744782
NMUR2Q9GZQ43EBI-533224,EBI-10303844
NOL9Q5SY163EBI-533224,EBI-1055462
NR2C2APQ86WQ03EBI-533224,EBI-10260040
NUDT10Q8NFP73EBI-533224,EBI-726826
ORC4O439293EBI-533224,EBI-374889
OSGIN1Q9UJX03EBI-533224,EBI-9057006
OTUD4Q018043EBI-533224,EBI-1054396
PATE1Q8WXA23EBI-533224,EBI-10277790
PBLDP300393EBI-533224,EBI-750589
PIN1Q135263EBI-533224,EBI-714158
PLEKHN1Q494U13EBI-533224,EBI-10241513
POLR1AO956023EBI-533224,EBI-359472
POLR1CO151603EBI-533224,EBI-1055079
PPIL1Q9Y3C63EBI-533224,EBI-2557649
PPP1R18Q6NYC83EBI-533224,EBI-2557469
PRKAA2P546463EBI-533224,EBI-1383852
PSMA1P257863EBI-533224,EBI-359352
PSMG2Q969U73EBI-533224,EBI-723276
PTGER3P43115-123EBI-533224,EBI-10234038
RAB41Q5JT253EBI-533224,EBI-10244509
RABIFP472243EBI-533224,EBI-713992
RECKQ6P9E23EBI-533224,EBI-10253121
RELAQ04206-33EBI-533224,EBI-10223388
REXO1L1PQ8IX063EBI-533224,EBI-10262361
RNF6A0A0S2Z4G93EBI-13636688,EBI-16428950
RSPH14Q9UHP63EBI-533224,EBI-748350
RYDENQ9NUL53EBI-533224,EBI-10313866
SCOCQ9UIL13EBI-533224,EBI-2686537
SEC14L4Q9UDX33EBI-533224,EBI-10320311
SFRS2Q6NXQ03EBI-533224,EBI-10251550
SGF29Q96ES74EBI-533224,EBI-743117
SIGLEC6O436993EBI-533224,EBI-2814604
SLC39A13Q96H723EBI-533224,EBI-10287091
SLC4A1APQ9BWU03EBI-533224,EBI-1999704
SMCPP499013EBI-533224,EBI-750494
SMOC1Q9H4F83EBI-533224,EBI-2801103
Sox17Q614735EBI-533224,EBI-9106822From Mus musculus.
Sox4Q068312EBI-533224,EBI-6262177From Mus musculus.
SPATC1LQ9H0A93EBI-533224,EBI-372911
SPG21Q9NZD83EBI-533224,EBI-742688
STAMBPL1Q96FJ03EBI-533224,EBI-745021
STK16O757163EBI-533224,EBI-749295
STX11O755583EBI-533224,EBI-714135
SZT2Q5T011-53EBI-533224,EBI-10245139
TAL2Q165593EBI-533224,EBI-10237959
TCEA2Q155603EBI-533224,EBI-710310
TCL1AP562793EBI-533224,EBI-749995
TP53P046372EBI-533224,EBI-366083
TRAPPC2LQ9UL333EBI-533224,EBI-747601
TSSK3Q96PN83EBI-533224,EBI-3918381
TWIST1Q156723EBI-533224,EBI-1797287
TWIST2Q8WVJ93EBI-533224,EBI-1797313
TXNL4BQ9NX013EBI-533224,EBI-10309345
UTP23Q9BRU93EBI-533224,EBI-5457544
VPS28Q548N13EBI-533224,EBI-10243107
ZDHHC24Q6UX983EBI-533224,EBI-10254561
ZNF124Q159733EBI-533224,EBI-2555767
ZNF417Q8TAU33EBI-533224,EBI-740727
ZNF587Q96SQ53EBI-533224,EBI-6427977
ZNF688A0A0S2Z5X43EBI-13636688,EBI-16429014
ZNF688A0A0S2Z6P03EBI-13636688,EBI-16429989

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
112787, 215 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
P15884

Database of interacting proteins

More...
DIPi
DIP-163N

Protein interaction database and analysis system

More...
IntActi
P15884, 251 interactors

Molecular INTeraction database

More...
MINTi
P15884

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000346440

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1667
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Database of protein disorder

More...
DisProti
DP00224

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P15884

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
P15884

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P15884

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini564 – 617bHLHPROSITE-ProRule annotationAdd BLAST54

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 83Essential for MYOD1 inhibitionBy similarityAdd BLAST83
Regioni379 – 400Leucine-zipperAdd BLAST22
Regioni619 – 642Class A specific domainAdd BLAST24

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi18 – 269aaTAD9

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi228 – 231Poly-Ser4

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.1 Publication

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3910 Eukaryota
ENOG410XYUA LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159129

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000234180

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG003854

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P15884

KEGG Orthology (KO)

More...
KOi
K15603

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P15884

TreeFam database of animal gene trees

More...
TreeFami
TF321672

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00083 HLH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
4.10.280.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00010 HLH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00353 HLH, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47459 SSF47459, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50888 BHLH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (16+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 16 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 16 described isoforms and 47 potential isoforms that are computationally mapped.Show allAlign All

Isoform SEF2-1B (identifier: P15884-1) [UniParc]FASTAAdd to basket
Also known as: B-

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MHHQQRMAAL GTDKELSDLL DFSAMFSPPV SSGKNGPTSL ASGHFTGSNV
60 70 80 90 100
EDRSSSGSWG NGGHPSPSRN YGDGTPYDHM TSRDLGSHDN LSPPFVNSRI
110 120 130 140 150
QSKTERGSYS SYGRESNLQG CHQQSLLGGD MDMGNPGTLS PTKPGSQYYQ
160 170 180 190 200
YSSNNPRRRP LHSSAMEVQT KKVRKVPPGL PSSVYAPSAS TADYNRDSPG
210 220 230 240 250
YPSSKPATST FPSSFFMQDG HHSSDPWSSS SGMNQPGYAG MLGNSSHIPQ
260 270 280 290 300
SSSYCSLHPH ERLSYPSHSS ADINSSLPPM STFHRSGTNH YSTSSCTPPA
310 320 330 340 350
NGTDSIMANR GSGAAGSSQT GDALGKALAS IYSPDHTNNS FSSNPSTPVG
360 370 380 390 400
SPPSLSAGTA VWSRNGGQAS SSPNYEGPLH SLQSRIEDRL ERLDDAIHVL
410 420 430 440 450
RNHAVGPSTA MPGGHGDMHG IIGPSHNGAM GGLGSGYGTG LLSANRHSLM
460 470 480 490 500
VGTHREDGVA LRGSHSLLPN QVPVPQLPVQ SATSPDLNPP QDPYRGMPPG
510 520 530 540 550
LQGQSVSSGS SEIKSDDEGD ENLQDTKSSE DKKLDDDKKD IKSITSNNDD
560 570 580 590 600
EDLTPEQKAE REKERRMANN ARERLRVRDI NEAFKELGRM VQLHLKSDKP
610 620 630 640 650
QTKLLILHQA VAVILSLEQQ VRERNLNPKA ACLKRREEEK VSSEPPPLSL
660
AGPHPGMGDA SNHMGQM
Length:667
Mass (Da):71,308
Last modified:December 15, 1998 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i53459FC7989D9487
GO
Isoform SEF2-1A (identifier: P15884-2) [UniParc]FASTAAdd to basket
Also known as: A+

The sequence of this isoform differs from the canonical sequence as follows:
     1-160: Missing.
     161-183: LHSSAMEVQTKKVRKVPPGLPSS → MYCAYTIPGMGGNSLMYYYNGKA
     545-545: T → TRSRS

Show »
Length:511
Mass (Da):54,621
Checksum:i53BE8B2756C9C26B
GO
Isoform SEF2-1D (identifier: P15884-3) [UniParc]FASTAAdd to basket
Also known as: B+

The sequence of this isoform differs from the canonical sequence as follows:
     545-545: T → TRSRS

Show »
Length:671
Mass (Da):71,795
Checksum:i2A3AE4C1E87B81E4
GO
Isoform B+delta (identifier: P15884-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     124-183: Missing.
     545-545: T → TRSRS

Show »
Length:611
Mass (Da):65,282
Checksum:iC9C6986AA5563828
GO
Isoform B-delta (identifier: P15884-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     124-183: Missing.

Show »
Length:607
Mass (Da):64,796
Checksum:iAE68260B30C1B9E6
GO
Isoform A- (identifier: P15884-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: MHHQQRMAALGTDKELSDLLDFS → MYCAYTIPGMGGNSLMYYYNGKA
     24-123: Missing.
     124-183: Missing.

Show »
Length:507
Mass (Da):54,135
Checksum:i2DF7DC48C2D3EE83
GO
Isoform G- (identifier: P15884-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-32: MHHQQRMAALGTDKELSDLLDFSAMFSPPVSS → MKDIFFQFIIARVRKCYSLSCLHTLPVVPTLR
     33-102: Missing.
     123-123: Missing.

Show »
Length:596
Mass (Da):64,116
Checksum:i5912C40D16E30908
GO
Isoform H- (identifier: P15884-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: MHHQQRMAALGTDKELSDLLDFS → MKFKQCRCSDTGLCCLDHEGKAE
     24-183: Missing.

Show »
Length:507
Mass (Da):54,169
Checksum:iF88FFDCB9733FB31
GO
Isoform D- (identifier: P15884-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-130: Missing.

Show »
Length:537
Mass (Da):57,425
Checksum:i7F77B2E736AC27E4
GO
Isoform F- (identifier: P15884-10) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-49: MHHQQRMAALGTDKELSDLLDFSAMFSPPVSSGKNGPTSLASGHFTGSN → MEEDSRD

Show »
Length:625
Mass (Da):67,027
Checksum:i36CF6C747000814D
GO
Isoform 11 (identifier: P15884-11) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-102: MHHQQRMAAL...PPFVNSRIQS → MKDIFFQFIIARVRKCYSLSCLHTLPVVPTLR
     123-123: Missing.
     545-545: T → TRSRS

Show »
Length:600
Mass (Da):64,602
Checksum:iFA530DE0722CDA2E
GO
Isoform E- (identifier: P15884-12) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: MHHQQRMAALGTDKELSDLLDFSA → MQRAKTELFRLQIVTDDLRKNE
     357-357: Missing.

Show »
Length:664
Mass (Da):71,227
Checksum:i064EA9F64B55C741
GO
Isoform 13 (identifier: P15884-13) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.
     545-545: T → TRSRS

Show »
Length:647
Mass (Da):69,098
Checksum:i1ED8C14A73F678C1
GO
Isoform C- (identifier: P15884-14) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.

Show »
Length:643
Mass (Da):68,611
Checksum:i68C866E2BBBAB621
GO
Isoform C-delta (identifier: P15884-15) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.
     124-183: Missing.

Show »
Length:583
Mass (Da):62,099
Checksum:i6B694DB9DDCB93B6
GO
Isoform I- (identifier: P15884-16) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-216: Missing.

Show »
Length:451
Mass (Da):48,098
Checksum:iFD0EE9CD3312CFB4
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 47 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PH57E9PH57_HUMAN
Transcription factor 4, isoform CRA...
TCF4 hCG_1811800
773Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BTP3H3BTP3_HUMAN
Transcription factor 4
TCF4
677Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BPJ7H3BPJ7_HUMAN
Transcription factor 4
TCF4
642Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GWD5A0A1B0GWD5_HUMAN
Transcription factor 4
TCF4
541Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GW91A0A1B0GW91_HUMAN
Transcription factor 4
TCF4
455Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GVR6A0A1B0GVR6_HUMAN
Transcription factor 4
TCF4
670Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GVB8A0A1B0GVB8_HUMAN
Transcription factor 4
TCF4
631Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SGH7A0A0D9SGH7_HUMAN
Transcription factor 4
TCF4
81Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G0LNT7G0LNT7_HUMAN
Transcription factor 4, isoform D
TCF4
119Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G0LNT4G0LNT4_HUMAN
Transcription factor 4, isoform B
TCF4
139Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAA60310 differs from that shown. Incomplete and probable erroneous sequence.Curated
The sequence AAA60312 differs from that shown. Incomplete and probable erroneous sequence.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti46 – 49TGSN → EFGG in CAA36298 (PubMed:2308860).Curated4
Sequence conflicti205Missing in AV761952 (Ref. 7) Curated1
Sequence conflicti334P → S in CAA36298 (PubMed:2308860).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07972629P → T Probable disease-associated mutation found in a family with symmetrical acral keratoderma. 1 Publication1
Natural variantiVAR_066839358G → V in PTHS; also expressed in the nucleus with a pattern indistinguishable from the wild-type; does not have a major impact on homodimer formation; affects transcriptional activity in a context-dependent manner. 2 Publications1
Natural variantiVAR_078644385 – 667Missing in PTHS. 1 PublicationAdd BLAST283
Natural variantiVAR_049545450M → I. Corresponds to variant dbSNP:rs11660217EnsemblClinVar.1
Natural variantiVAR_058632535D → G in PTHS; loss of function; also expressed in the nucleus with a pattern indistinguishable from the wild-type; does not have a major impact on homodimer formation; affects transcriptional activity in a context-dependent manner. 2 Publications1
Natural variantiVAR_066970565R → W in PTHS. 1 Publication1
Natural variantiVAR_058633572R → G in PTHS; loss of function. 2 Publications1
Natural variantiVAR_066971572R → Q in PTHS. 1 PublicationCorresponds to variant dbSNP:rs1057521070Ensembl.1
Natural variantiVAR_066972574R → H in PTHS. 1 PublicationCorresponds to variant dbSNP:rs121909123Ensembl.1
Natural variantiVAR_066840574R → P in PTHS; mislocalized to small spherical punctae that are dispersed throughout the nucleus; can attenuate homo- and heterodimer formation; affects transcriptional activity in a context-dependent manner. 3 PublicationsCorresponds to variant dbSNP:rs121909123Ensembl.1
Natural variantiVAR_034704576R → Q in PTHS; loss of function. 3 PublicationsCorresponds to variant dbSNP:rs121909121Ensembl.1
Natural variantiVAR_034705576R → W in PTHS; mislocalized to small spherical punctae that are dispersed throughout the nucleus; can attenuate homo- and heterodimer formation; affects transcriptional activity in a context-dependent manner. 4 PublicationsCorresponds to variant dbSNP:rs121909120Ensembl.1
Natural variantiVAR_066841578R → H in PTHS. 1 Publication1
Natural variantiVAR_066973578R → P in PTHS. 2 Publications1
Natural variantiVAR_066974583A → P in PTHS. 1 Publication1
Natural variantiVAR_058634610A → V in PTHS; loss of function; mislocalized to small spherical punctae that are dispersed throughout the nucleus; can attenuate homo- and heterodimer formation; affects transcriptional activity in a context-dependent manner. 3 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0542791 – 216Missing in isoform I-. 1 PublicationAdd BLAST216
Alternative sequenceiVSP_0308191 – 160Missing in isoform SEF2-1A. 4 PublicationsAdd BLAST160
Alternative sequenceiVSP_0451491 – 130Missing in isoform D-. 2 PublicationsAdd BLAST130
Alternative sequenceiVSP_0451501 – 102MHHQQ…SRIQS → MKDIFFQFIIARVRKCYSLS CLHTLPVVPTLR in isoform 11. 1 PublicationAdd BLAST102
Alternative sequenceiVSP_0451511 – 49MHHQQ…FTGSN → MEEDSRD in isoform F-. 2 PublicationsAdd BLAST49
Alternative sequenceiVSP_0443341 – 32MHHQQ…PPVSS → MKDIFFQFIIARVRKCYSLS CLHTLPVVPTLR in isoform G-. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_0470811 – 24Missing in isoform 13, isoform C- and isoform C-delta. 2 PublicationsAdd BLAST24
Alternative sequenceiVSP_0470821 – 24MHHQQ…LDFSA → MQRAKTELFRLQIVTDDLRK NE in isoform E-. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_0443361 – 23MHHQQ…LLDFS → MYCAYTIPGMGGNSLMYYYN GKA in isoform A-. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_0443351 – 23MHHQQ…LLDFS → MKFKQCRCSDTGLCCLDHEG KAE in isoform H-. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_05736424 – 183Missing in isoform H-. 1 PublicationAdd BLAST160
Alternative sequenceiVSP_04433724 – 123Missing in isoform A-. 1 PublicationAdd BLAST100
Alternative sequenceiVSP_04433833 – 102Missing in isoform G-. 1 PublicationAdd BLAST70
Alternative sequenceiVSP_044339123Missing in isoform G- and isoform 11. 2 Publications1
Alternative sequenceiVSP_044340124 – 183Missing in isoform A-, isoform B-delta, isoform B+delta and isoform C-delta. 1 PublicationAdd BLAST60
Alternative sequenceiVSP_002111161 – 183LHSSA…GLPSS → MYCAYTIPGMGGNSLMYYYN GKA in isoform SEF2-1A. 4 PublicationsAdd BLAST23
Alternative sequenceiVSP_047083357Missing in isoform E-. 1 Publication1
Alternative sequenceiVSP_002112545T → TRSRS in isoform B+delta, isoform SEF2-1A, isoform SEF2-1D, isoform 11 and isoform 13. 5 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M74718 mRNA Translation: AAA60310.1 Sequence problems.
M74719 mRNA Translation: AAA60311.1
M74720 mRNA Translation: AAA60312.1 Sequence problems.
FR748210 mRNA Translation: CBY80189.1
FR748211 mRNA Translation: CBY80190.1
FR748212 mRNA Translation: CBY80191.1
FR748213 mRNA Translation: CBY80192.1
FR748214 mRNA Translation: CBY80193.1
FR748215 mRNA Translation: CBY80194.1
FR748216 mRNA Translation: CBY80195.1
FR748217 mRNA Translation: CBY80196.1
FR748218 mRNA Translation: CBY80197.1
FR748219 mRNA Translation: CBY80198.1
FR748220 mRNA Translation: CBY80199.1
FR748221 mRNA Translation: CBY80200.1
FR748222 mRNA Translation: CBY80201.1
FR748223 mRNA Translation: CBY80202.1
AK095041 mRNA Translation: BAG52974.1
AK096862 mRNA Translation: BAG53382.1
AK299169 mRNA Translation: BAH12962.1
AK300636 mRNA Translation: BAG62325.1
AK300038 mRNA Translation: BAG61849.1
AK301144 mRNA Translation: BAH13417.1
AK300612 mRNA Translation: BAH13314.1
AK316165 mRNA Translation: BAH14536.1
AC013587 Genomic DNA No translation available.
AC018994 Genomic DNA No translation available.
AC090383 Genomic DNA No translation available.
AC090684 Genomic DNA No translation available.
AC091103 Genomic DNA No translation available.
CH471096 Genomic DNA Translation: EAW63017.1
CH471096 Genomic DNA Translation: EAW63018.1
BC125084 mRNA Translation: AAI25085.1
BC125085 mRNA Translation: AAI25086.1
AV761952 mRNA No translation available.
U75701 Genomic DNA Translation: AAC51824.1
X52079 mRNA Translation: CAA36298.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11960.1 [P15884-1]
CCDS42438.1 [P15884-3]
CCDS58623.1 [P15884-8]
CCDS58624.1 [P15884-2]
CCDS58625.1 [P15884-6]
CCDS58626.1 [P15884-9]
CCDS58627.1 [P15884-11]
CCDS58628.1 [P15884-10]
CCDS58629.1 [P15884-13]
CCDS59321.1 [P15884-12]
CCDS77191.1 [P15884-7]
CCDS77192.1 [P15884-14]

Protein sequence database of the Protein Information Resource

More...
PIRi
A41311

NCBI Reference Sequences

More...
RefSeqi
NP_001077431.1, NM_001083962.1 [P15884-3]
NP_001230155.2, NM_001243226.2
NP_001230156.1, NM_001243227.1 [P15884-13]
NP_001230157.1, NM_001243228.1
NP_001230159.1, NM_001243230.1 [P15884-12]
NP_001230160.1, NM_001243231.1 [P15884-10]
NP_001230161.1, NM_001243232.1 [P15884-11]
NP_001230162.1, NM_001243233.1 [P15884-9]
NP_001230163.1, NM_001243234.1 [P15884-2]
NP_001230164.1, NM_001243235.1 [P15884-6]
NP_001230165.1, NM_001243236.1 [P15884-8]
NP_001293136.1, NM_001306207.1 [P15884-14]
NP_001293137.1, NM_001306208.1 [P15884-7]
NP_001335140.1, NM_001348211.1
NP_001335141.1, NM_001348212.1 [P15884-9]
NP_001335142.1, NM_001348213.1
NP_001335143.1, NM_001348214.1
NP_001335144.1, NM_001348215.1
NP_001335145.1, NM_001348216.1
NP_001335146.1, NM_001348217.1 [P15884-13]
NP_001335147.1, NM_001348218.1 [P15884-13]
NP_001335148.1, NM_001348219.1 [P15884-14]
NP_001335149.1, NM_001348220.1
NP_003190.1, NM_003199.2 [P15884-1]
XP_005266796.2, XM_005266739.3 [P15884-13]
XP_006722599.1, XM_006722536.2 [P15884-3]
XP_006722600.1, XM_006722537.2 [P15884-3]
XP_016881425.1, XM_017025936.1 [P15884-14]
XP_016881429.1, XM_017025940.1 [P15884-1]
XP_016881430.1, XM_017025941.1 [P15884-1]
XP_016881435.1, XM_017025946.1 [P15884-14]
XP_016881445.1, XM_017025956.1 [P15884-9]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.605153
Hs.742885

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000354452; ENSP00000346440; ENSG00000196628 [P15884-3]
ENST00000356073; ENSP00000348374; ENSG00000196628 [P15884-1]
ENST00000457482; ENSP00000409447; ENSG00000196628 [P15884-2]
ENST00000537578; ENSP00000440731; ENSG00000196628 [P15884-13]
ENST00000537856; ENSP00000439827; ENSG00000196628 [P15884-9]
ENST00000540999; ENSP00000445202; ENSG00000196628 [P15884-14]
ENST00000543082; ENSP00000439656; ENSG00000196628 [P15884-10]
ENST00000544241; ENSP00000441562; ENSG00000196628 [P15884-11]
ENST00000561831; ENSP00000457765; ENSG00000196628 [P15884-8]
ENST00000561992; ENSP00000455179; ENSG00000196628 [P15884-9]
ENST00000564228; ENSP00000455261; ENSG00000196628 [P15884-7]
ENST00000564999; ENSP00000457649; ENSG00000196628 [P15884-1]
ENST00000565018; ENSP00000455984; ENSG00000196628 [P15884-15]
ENST00000566279; ENSP00000456125; ENSG00000196628 [P15884-4]
ENST00000566286; ENSP00000455418; ENSG00000196628 [P15884-12]
ENST00000567880; ENSP00000454366; ENSG00000196628 [P15884-5]
ENST00000568673; ENSP00000455135; ENSG00000196628 [P15884-13]
ENST00000570177; ENSP00000454647; ENSG00000196628 [P15884-9]
ENST00000570287; ENSP00000455763; ENSG00000196628 [P15884-6]
ENST00000616053; ENSP00000478549; ENSG00000196628 [P15884-15]
ENST00000626584; ENSP00000486072; ENSG00000196628 [P15884-16]
ENST00000629387; ENSP00000486670; ENSG00000196628 [P15884-3]
ENST00000636400; ENSP00000490006; ENSG00000196628 [P15884-13]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
6925

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6925

UCSC genome browser

More...
UCSCi
uc002lfw.5 human [P15884-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M74718 mRNA Translation: AAA60310.1 Sequence problems.
M74719 mRNA Translation: AAA60311.1
M74720 mRNA Translation: AAA60312.1 Sequence problems.
FR748210 mRNA Translation: CBY80189.1
FR748211 mRNA Translation: CBY80190.1
FR748212 mRNA Translation: CBY80191.1
FR748213 mRNA Translation: CBY80192.1
FR748214 mRNA Translation: CBY80193.1
FR748215 mRNA Translation: CBY80194.1
FR748216 mRNA Translation: CBY80195.1
FR748217 mRNA Translation: CBY80196.1
FR748218 mRNA Translation: CBY80197.1
FR748219 mRNA Translation: CBY80198.1
FR748220 mRNA Translation: CBY80199.1
FR748221 mRNA Translation: CBY80200.1
FR748222 mRNA Translation: CBY80201.1
FR748223 mRNA Translation: CBY80202.1
AK095041 mRNA Translation: BAG52974.1
AK096862 mRNA Translation: BAG53382.1
AK299169 mRNA Translation: BAH12962.1
AK300636 mRNA Translation: BAG62325.1
AK300038 mRNA Translation: BAG61849.1
AK301144 mRNA Translation: BAH13417.1
AK300612 mRNA Translation: BAH13314.1
AK316165 mRNA Translation: BAH14536.1
AC013587 Genomic DNA No translation available.
AC018994 Genomic DNA No translation available.
AC090383 Genomic DNA No translation available.
AC090684 Genomic DNA No translation available.
AC091103 Genomic DNA No translation available.
CH471096 Genomic DNA Translation: EAW63017.1
CH471096 Genomic DNA Translation: EAW63018.1
BC125084 mRNA Translation: AAI25085.1
BC125085 mRNA Translation: AAI25086.1
AV761952 mRNA No translation available.
U75701 Genomic DNA Translation: AAC51824.1
X52079 mRNA Translation: CAA36298.1
CCDSiCCDS11960.1 [P15884-1]
CCDS42438.1 [P15884-3]
CCDS58623.1 [P15884-8]
CCDS58624.1 [P15884-2]
CCDS58625.1 [P15884-6]
CCDS58626.1 [P15884-9]
CCDS58627.1 [P15884-11]
CCDS58628.1 [P15884-10]
CCDS58629.1 [P15884-13]
CCDS59321.1 [P15884-12]
CCDS77191.1 [P15884-7]
CCDS77192.1 [P15884-14]
PIRiA41311
RefSeqiNP_001077431.1, NM_001083962.1 [P15884-3]
NP_001230155.2, NM_001243226.2
NP_001230156.1, NM_001243227.1 [P15884-13]
NP_001230157.1, NM_001243228.1
NP_001230159.1, NM_001243230.1 [P15884-12]
NP_001230160.1, NM_001243231.1 [P15884-10]
NP_001230161.1, NM_001243232.1 [P15884-11]
NP_001230162.1, NM_001243233.1 [P15884-9]
NP_001230163.1, NM_001243234.1 [P15884-2]
NP_001230164.1, NM_001243235.1 [P15884-6]
NP_001230165.1, NM_001243236.1 [P15884-8]
NP_001293136.1, NM_001306207.1 [P15884-14]
NP_001293137.1, NM_001306208.1 [P15884-7]
NP_001335140.1, NM_001348211.1
NP_001335141.1, NM_001348212.1 [P15884-9]
NP_001335142.1, NM_001348213.1
NP_001335143.1, NM_001348214.1
NP_001335144.1, NM_001348215.1
NP_001335145.1, NM_001348216.1
NP_001335146.1, NM_001348217.1 [P15884-13]
NP_001335147.1, NM_001348218.1 [P15884-13]
NP_001335148.1, NM_001348219.1 [P15884-14]
NP_001335149.1, NM_001348220.1
NP_003190.1, NM_003199.2 [P15884-1]
XP_005266796.2, XM_005266739.3 [P15884-13]
XP_006722599.1, XM_006722536.2 [P15884-3]
XP_006722600.1, XM_006722537.2 [P15884-3]
XP_016881425.1, XM_017025936.1 [P15884-14]
XP_016881429.1, XM_017025940.1 [P15884-1]
XP_016881430.1, XM_017025941.1 [P15884-1]
XP_016881435.1, XM_017025946.1 [P15884-14]
XP_016881445.1, XM_017025956.1 [P15884-9]
UniGeneiHs.605153
Hs.742885

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KWFNMR-B11-27[»]
DisProtiDP00224
ProteinModelPortaliP15884
SMRiP15884
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112787, 215 interactors
CORUMiP15884
DIPiDIP-163N
IntActiP15884, 251 interactors
MINTiP15884
STRINGi9606.ENSP00000346440

Chemistry databases

ChEMBLiCHEMBL3885541

PTM databases

iPTMnetiP15884
PhosphoSitePlusiP15884

Polymorphism and mutation databases

BioMutaiTCF4

Proteomic databases

MaxQBiP15884
PaxDbiP15884
PeptideAtlasiP15884
PRIDEiP15884
ProteomicsDBi53237
53238 [P15884-2]
53239 [P15884-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000354452; ENSP00000346440; ENSG00000196628 [P15884-3]
ENST00000356073; ENSP00000348374; ENSG00000196628 [P15884-1]
ENST00000457482; ENSP00000409447; ENSG00000196628 [P15884-2]
ENST00000537578; ENSP00000440731; ENSG00000196628 [P15884-13]
ENST00000537856; ENSP00000439827; ENSG00000196628 [P15884-9]
ENST00000540999; ENSP00000445202; ENSG00000196628 [P15884-14]
ENST00000543082; ENSP00000439656; ENSG00000196628 [P15884-10]
ENST00000544241; ENSP00000441562; ENSG00000196628 [P15884-11]
ENST00000561831; ENSP00000457765; ENSG00000196628 [P15884-8]
ENST00000561992; ENSP00000455179; ENSG00000196628 [P15884-9]
ENST00000564228; ENSP00000455261; ENSG00000196628 [P15884-7]
ENST00000564999; ENSP00000457649; ENSG00000196628 [P15884-1]
ENST00000565018; ENSP00000455984; ENSG00000196628 [P15884-15]
ENST00000566279; ENSP00000456125; ENSG00000196628 [P15884-4]
ENST00000566286; ENSP00000455418; ENSG00000196628 [P15884-12]
ENST00000567880; ENSP00000454366; ENSG00000196628 [P15884-5]
ENST00000568673; ENSP00000455135; ENSG00000196628 [P15884-13]
ENST00000570177; ENSP00000454647; ENSG00000196628 [P15884-9]
ENST00000570287; ENSP00000455763; ENSG00000196628 [P15884-6]
ENST00000616053; ENSP00000478549; ENSG00000196628 [P15884-15]
ENST00000626584; ENSP00000486072; ENSG00000196628 [P15884-16]
ENST00000629387; ENSP00000486670; ENSG00000196628 [P15884-3]
ENST00000636400; ENSP00000490006; ENSG00000196628 [P15884-13]
GeneIDi6925
KEGGihsa:6925
UCSCiuc002lfw.5 human [P15884-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6925
DisGeNETi6925
EuPathDBiHostDB:ENSG00000196628.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TCF4
GeneReviewsiTCF4
HGNCiHGNC:11634 TCF4
HPAiCAB020722
HPA025958
MalaCardsiTCF4
MIMi602272 gene
610954 phenotype
613267 phenotype
neXtProtiNX_P15884
OpenTargetsiENSG00000196628
Orphaneti178469 Autosomal dominant non-syndromic intellectual disability
98974 Fuchs endothelial corneal dystrophy
2896 Pitt-Hopkins syndrome
171 Primary sclerosing cholangitis
PharmGKBiPA164742621

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3910 Eukaryota
ENOG410XYUA LUCA
GeneTreeiENSGT00940000159129
HOGENOMiHOG000234180
HOVERGENiHBG003854
InParanoidiP15884
KOiK15603
PhylomeDBiP15884
TreeFamiTF321672

Enzyme and pathway databases

ReactomeiR-HSA-375170 CDO in myogenesis
SignaLinkiP15884
SIGNORiP15884

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
TCF4 human
EvolutionaryTraceiP15884

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
TCF4

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
6925

Protein Ontology

More...
PROi
PR:P15884

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000196628 Expressed in 250 organ(s), highest expression level in cerebellum
CleanExiHS_TCF4
ExpressionAtlasiP15884 baseline and differential
GenevisibleiP15884 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiITF2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P15884
Secondary accession number(s): B3KT62
, B3KUC0, B4DT37, B4DUG3, B7Z5M6, B7Z6Y1, G0LNT9, G0LNU0, G0LNU1, G0LNU2, G0LNU4, G0LNU5, G0LNU8, G0LNU9, G0LNV0, G0LNV1, G0LNV2, H3BPQ1, Q08AP2, Q08AP3, Q15439, Q15440, Q15441
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: December 15, 1998
Last modified: December 5, 2018
This is version 201 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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