Functions and Diseases

RBP Type Canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions TF
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000117595 Gene ID 3664 Accession 6121
Symbol IRF6 Alias LPS;PIT;PPS;VWS;OFC6;PPS1;VWS1 Full Name interferon regulatory factor 6
Status Confidence Length 20559 bases Strand Minus strand
Position 1 : 209785617 - 209806175 RNA binding domain IRF-3
Summary 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 may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number
ENSP00000440532 IRF-3 PF10401 1.4e-68 1
ENSP00000355988 IRF-3 PF10401 2.3e-68 1
ENSP00000403855 IRF-3 PF10401 2.7e-09 1

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal
32527996 Lin28A promotes IRF6-regulated aerobic glycolysis in glioma cells by stabilizing SNHG14. Jinjing Lu 2020-06-11 Cell death & disease

Transcripts

Name Transcript ID bp Protein Translation ID
IRF6-201 ENST00000367021 4478 467aa ENSP00000355988
IRF6-204 ENST00000542854 4256 372aa ENSP00000440532
IRF6-206 ENST00000696134 4558 235aa ENSP00000512427
IRF6-205 ENST00000643798 1697 179aa ENSP00000496669
IRF6-202 ENST00000456314 1027 276aa ENSP00000403855
IRF6-203 ENST00000464698 596 No protein -

Gene Model

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
73739GRN protein, human3E-1222863734
77979Mouth Abnormalities1E-2128054174
83223Inflammatory Bowel Diseases1E-828067908
86009Mouth Abnormalities6E-1228054174
87074Cleft Lip6E-1628054174
87075Cleft Palate6E-1628054174
89572Cleft Lip2E-619270707
93398Cleft Lip9E-2225775280
93399Cleft Palate9E-2225775280
95949Cleft Lip1E-1420436469
100306Crohn Disease7E-728067908
101443Alzheimer Disease9E-625778476
103889Cleft Lip4E-2928054174
103890Cleft Palate4E-2928054174

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0000785part_of chromatin1ISAHomo_sapiens(9606)Component
GO:0000978enables RNA polymerase II cis-regulatory region sequence-specific DNA binding1IBAHomo_sapiens(9606)Function
GO:0000981enables DNA-binding transcription factor activity, RNA polymerase II-specific2IBA,ISAHomo_sapiens(9606)Function
GO:0001228enables DNA-binding transcription activator activity, RNA polymerase II-specific1IEAHomo_sapiens(9606)Function
GO:0002376involved_in immune system process1IBAHomo_sapiens(9606)Process
GO:0003677enables DNA binding1ISSHomo_sapiens(9606)Function
GO:0003700enables DNA-binding transcription factor activity1ISSHomo_sapiens(9606)Function
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005634is_active_in nucleus1IBAHomo_sapiens(9606)Component
GO:0005654located_in nucleoplasm1IDAHomo_sapiens(9606)Component
GO:0005737located_in cytoplasm1IDAHomo_sapiens(9606)Component
GO:0005829located_in cytosol2IDA,TASHomo_sapiens(9606)Component
GO:0006357involved_in regulation of transcription by RNA polymerase II1IBAHomo_sapiens(9606)Process
GO:0008285involved_in negative regulation of cell population proliferation1IDAHomo_sapiens(9606)Process
GO:0010839involved_in negative regulation of keratinocyte proliferation1IEAHomo_sapiens(9606)Process
GO:0030054located_in cell junction1IDAHomo_sapiens(9606)Component
GO:0030216involved_in keratinocyte differentiation1IEAHomo_sapiens(9606)Process
GO:0043565enables sequence-specific DNA binding1IDAHomo_sapiens(9606)Function
GO:0043616involved_in keratinocyte proliferation1IEAHomo_sapiens(9606)Process
GO:0045893involved_in positive regulation of DNA-templated transcription1ISSHomo_sapiens(9606)Process
GO:0045944involved_in positive regulation of transcription by RNA polymerase II1IDAHomo_sapiens(9606)Process
GO:0048468involved_in cell development1IEAHomo_sapiens(9606)Process
GO:0060021involved_in roof of mouth development1IEAHomo_sapiens(9606)Process
GO:0060173involved_in limb development1IEAHomo_sapiens(9606)Process
GO:0060644involved_in mammary gland epithelial cell differentiation1ISSHomo_sapiens(9606)Process
GO:0070062located_in extracellular exosome1HDAHomo_sapiens(9606)Component
GO:0072089involved_in stem cell proliferation1IEAHomo_sapiens(9606)Process
GO:1904888involved_in cranial skeletal system development1IEAHomo_sapiens(9606)Process
GO:1990837enables sequence-specific double-stranded DNA binding1IDAHomo_sapiens(9606)Function
GO:2000647involved_in negative regulation of stem cell proliferation1IEAHomo_sapiens(9606)Process

Expression