Homo sapiens Gene: TCF4
Summary
InnateDB Gene IDBG-3611.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TCF4
Gene Name transcription factor 4
Synonyms bHLHb19; E2-2; ITF-2; ITF2; PTHS; SEF-2; SEF2; SEF2-1; SEF2-1A; SEF2-1B; SEF2-1D; TCF-4;
Species Homo sapiens
Ensembl Gene ENSG00000196628
Encoded Proteins
transcription factor 4
transcription factor 4
transcription factor 4
transcription factor 4
transcription factor 4
transcription factor 4
transcription factor 4
transcription factor 4
transcription factor 4
transcription factor 4
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
Transcription Factor that is an essential and specific regulator of Plasmacytoid dendritic cell development
Entrez Gene
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. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Aug 2011]
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. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Aug 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:55222331-55664787
Strand Reverse strand
Band q21.2
Transcripts
ENST00000354452 ENSP00000346440
ENST00000356073 ENSP00000348374
ENST00000398339 ENSP00000381382
ENST00000457482 ENSP00000409447
ENST00000540999 ENSP00000445202
ENST00000537578 ENSP00000440731
ENST00000543082 ENSP00000439656
ENST00000544241 ENSP00000441562
ENST00000537856 ENSP00000439827
ENST00000562638 ENSP00000456802
ENST00000590810 ENSP00000468277
ENST00000568169 ENSP00000457392
ENST00000564999 ENSP00000457649
ENST00000568740 ENSP00000455346
ENST00000561992 ENSP00000455179
ENST00000568147 ENSP00000455163
ENST00000566286 ENSP00000455418
ENST00000570146 ENSP00000468729
ENST00000564343 ENSP00000454328
ENST00000562543 ENSP00000455450
ENST00000570287 ENSP00000455763
ENST00000562847 ENSP00000454866
ENST00000563888 ENSP00000457747
ENST00000566376
ENST00000570177 ENSP00000454647
ENST00000563824 ENSP00000457113
ENST00000565908 ENSP00000454584
ENST00000568673 ENSP00000455135
ENST00000569357 ENSP00000454352
ENST00000565580
ENST00000565393 ENSP00000454441
ENST00000562030 ENSP00000456220
ENST00000566279 ENSP00000456125
ENST00000561831 ENSP00000457765
ENST00000568186 ENSP00000458122
ENST00000565018 ENSP00000455984
ENST00000566514 ENSP00000456983
ENST00000562607 ENSP00000455071
ENST00000563760
ENST00000565124 ENSP00000457082
ENST00000564403 ENSP00000457263
ENST00000562680
ENST00000563686
ENST00000569012 ENSP00000455304
ENST00000566777 ENSP00000457245
ENST00000564228 ENSP00000455261
ENST00000567880 ENSP00000454366
ENST00000616053 ENSP00000478549
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 90 experimentally validated interaction(s) in this database.
They are also associated with 44 interaction(s) predicted by orthology.
Experimentally validated
Total 90 [view]
Protein-Protein 79 [view]
Protein-DNA 11 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 44 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001011 sequence-specific DNA binding RNA polymerase recruiting transcription factor activity
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0001087 TFIIB-class binding transcription factor activity
GO:0001093 TFIIB-class transcription factor binding
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0046982 protein heterodimerization activity
GO:0046983 protein dimerization activity
GO:0070888 E-box binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006352 DNA-templated transcription, initiation
GO:0006355 regulation of transcription, DNA-templated
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0045087 innate immune response (InnateDB)
GO:0045666 positive regulation of neuron differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0065004 protein-DNA complex assembly
Cellular Component
GO:0005634 nucleus
GO:0005667 transcription factor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
AndrogenReceptor pathway
ID pathway
TGF_beta_Receptor pathway
Wnt pathway
REACTOME
Developmental Biology pathway
CDO in myogenesis pathway
Myogenesis pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Coregulation of Androgen receptor activity
Regulation of nuclear beta catenin signaling and target gene transcription
Cross-References
SwissProt P15884
TrEMBL G0LNT3 G0LNT7 G0LNT8 H3BMC8 H3BME8 H3BNI2 H3BNZ2 H3BP59 H3BPG3 H3BRF7 H3BSP7 H3BSX3 H3BT24 H3BTC3 H3BTM9 H3BUQ3
UniProt Splice Variant
Entrez Gene 6925
UniGene Hs.599356 Hs.605153 Hs.606264 Hs.624776 Hs.719509 Hs.742885
RefSeq NM_001083962 NM_001243226 NM_001243227 NM_001243228 NM_001243230 NM_001243231 NM_001243232 NM_001243233 NM_001243234 NM_001243235 NM_001243236 NM_003199 XM_005266739 XM_005266741 XM_005266743 XM_005266744 XM_005266745 XM_005266746 XM_005266747 XM_005266749 XM_005266750 XM_005266752 XM_005266754 XM_005266755 XM_006722530 XM_006722531 XM_006722532 XM_006722533 XM_006722534 XM_006722536 XM_006722537 XM_006722538 XM_006722539 XM_006722540
HUGO HGNC:11634
OMIM 602272
CCDS CCDS58629 CCDS11960 CCDS42438 CCDS58623 CCDS58624 CCDS58625 CCDS58626 CCDS58627 CCDS58628 CCDS58630 CCDS58631 CCDS59321
HPRD 03780
IMGT
EMBL AC013587 AC018994 AC090383 AC090684 AC091103 AK095041 AK096862 AK299169 AK300038 AK300612 AK300636 AK301144 AK316165 AV761952 BC125084 BC125085 CH471096 FR748204 FR748208 FR748209 FR748210 FR748211 FR748212 FR748213 FR748214 FR748215 FR748216 FR748217 FR748218 FR748219 FR748220 FR748221 FR748222 FR748223 M74718 M74719 M74720 U75701 X52079
GenPept AAA60310 AAA60311 AAA60312 AAC51824 AAI25085 AAI25086 BAG52974 BAG53382 BAG61849 BAG62325 BAH12962 BAH13314 BAH13417 BAH14536 CAA36298 CBY80183 CBY80187 CBY80188 CBY80189 CBY80190 CBY80191 CBY80192 CBY80193 CBY80194 CBY80195 CBY80196 CBY80197 CBY80198 CBY80199 CBY80200 CBY80201 CBY80202 EAW63017 EAW63018
RNA Seq Atlas 6925