InnateDB: Systems Biology of the Innate Immune Response

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

ENSMUSG00000053477

View Gene Order

ENSBTAG00000016462

Not yet available

Pathways

NETPATH

NetPath_2

AndrogenReceptor pathway

NetPath_5

ID pathway

NetPath_7

TGF_beta_Receptor pathway

NetPath_8

Wnt pathway

REACTOME

REACT_21402

CDO in myogenesis pathway

REACT_111045

Developmental Biology pathway

REACT_21303

Myogenesis pathway

KEGG

INOH

PID NCI

ar_pathway

Coregulation of Androgen receptor activity

betacatenin_nuc_pathway

Regulation of nuclear beta catenin signaling and target gene transcription

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

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

OMIM

CCDS

CCDS11960 CCDS42438 CCDS58623 CCDS58624 CCDS58625 CCDS58626 CCDS58627 CCDS58628 CCDS58629 CCDS58630 CCDS58631 CCDS59321

HPRD

03780

IMGT

EMBL

GenPept

RNA Seq Atlas