IRF6

Also known as PPS, PPS1, VWS, VWS1, LPS, OFC6, PIT, interferon regulatory factor 6

Interferon regulatory factor 6 also known as IRF6 is a protein that in humans is encoded by the IRF6 gene.

Gene data

IRF6

Name: interferon regulatory factor 6
Type: protein-coding
Position: 209,785,254–209,806,217 (−)
Aliases: LPS, OFC6, PIT, PPS, PPS1, VWS, VWS1
Ensembl: ENSG00000117595
RefSeq RNA: NM_001206696.2, NM_006147.4
RefSeq protein: NP_001193625.1, NP_006138.1

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].

Gene Ontology

Biological process

immune system process regulation of DNA-templated transcription regulation of transcription by RNA polymerase II negative regulation of cell population proliferation positive regulation of DNA-templated transcription positive regulation of DNA-templated transcription positive regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II

Molecular function

transcription cis-regulatory region binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription activator activity, RNA polymerase II-specific DNA binding DNA binding DNA-binding transcription factor activity

Cellular component

chromatin nucleus nucleus cytoplasm cytoplasm cytosol cytosol apical part of cell

Pathways

Cytokine Signaling in Immune system Immune System Interferon gamma signaling Interferon alpha/beta signaling Interferon Signaling Apoptosis Primary focal segmental glomerulosclerosis (FSGS)Hypothetical Craniofacial Development Pathway Head and Neck Squamous Cell Carcinoma IL-18 signaling pathway

via MyGene.info

Wikidata facts

Show 5 more facts

HomoloGene ID: 4479
exact match: identifiers.org/ncbigene/3664
genomic end: 209979465
genomic start: 209785617
cytogenetic location: 1q32.2

Sources (4)

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Article

7 sections

Contents

Function
Pathology
Epigenetics
Cancer
See also
References
External links

Interferon regulatory factor 6 also known as IRF6 is a protein that in humans is encoded by the IRF6 gene.

== Function == 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 function of IRF6 is related to the formation of connective tissue, for example that of the palate. This gene encodes a member of the interferon regulatory transcription factor (IRF) family. In addition, it has been observed that IRF6 gene is under epigenetic regulation by promoter methylation.