• Gene id: 3664

Gene Summary

• Gene Symbol: IRF6   Gene   UCSC   Ensembl
• Aliases: LPS, OFC6, PIT, PPS, PPS1, VWS, VWS1
• Gene name: interferon regulatory factor 6
• Alternate names: interferon regulatory factor 6,
• Gene location: 1q32.2 (209806174: 209785616)     Exons: 15     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein m
• OMIM: 607199

Protein Summary

• Protein general information: O14896  
  • Name: Interferon regulatory factor 6 (IRF 6)
  • Length: 467  
  • Mass: 53130
  • Tissue specificity: Expressed in normal mammary epithelial cells. Expression is reduced or absent in breast carcinomas. {ECO
• Sequence:

  MALHPRRVRLKPWLVAQVDSGLYPGLIWLHRDSKRFQIPWKHATRHSPQQEEENTIFKAWAVETGKYQEGVDDPD
  PAKWKAQLRCALNKSREFNLMYDGTKEVPMNPVKIYQVCDIPQPQGSIINPGSTGSAPWDEKDNDVDEEDEEDEL
  DQSQHHVPIQDTFPFLNINGSPMAPASVGNCSVGNCSPEAVWPKTEPLEMEVPQAPIQPFYSSPELWISSLPMTD
  LDIKFQYRGKEYGQTMTVSNPQGCRLFYGDLGPMPDQEELFGPVSLEQVKFPGPEHITNEKQKLFTSKLLDVMDR
  GLILEVSGHAIYAIRLCQCKVYWSGPCAPSLVAPNLIERQKKVKLFCLETFLSDLIAHQKGQIEKQPPFEIYLCF
  GEEWPDGKPLERKLILVQVIPVVARMIYEMFSGDFTRSFDSGSVRLQISTPDIKDNIVAQLKQLYRILQTQESWQ
  PMQPTPSMQLPPALPPQ

• Structural information:
  • Interpro: IPR019817  IPR001346  IPR019471  IPR017855  IPR008984   IPR036388  IPR036390  
  • Prosite: PS00601 PS51507
  • CDD: cd00103
  • STRING: ENSP00000355988
• Other Databases: GeneCards:  IRF6  Malacards:  IRF6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0002376	immune system process	IBA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	ISS	molecular function
GO:0060644	mammary gland epithelial cell differentiation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003677	DNA binding	ISS	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0060337	type I interferon signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0043616	keratinocyte proliferation	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0060644	mammary gland epithelial cell differentiation	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0048468	cell development	IEA	biological process
GO:0043588	skin development	IEA	biological process
GO:0030216	keratinocyte differentiation	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0007050	cell cycle arrest	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Cleft lip and/or cleft palate	KEGG:H00516
Van der Woude syndrome	KEGG:H01927
Popliteal pterygium syndrome	KEGG:H00611
Cleft lip and/or cleft palate	KEGG:H00516
Van der Woude syndrome	KEGG:H01927
Popliteal pterygium syndrome	KEGG:H00611
Syndactyly	PMID:12219090
cleft palate	PMID:20672350
Cleft lip	PMID:12219090
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)