IRF6
Sign in to saveAlso 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
- 209,784,984–209,806,217 (−)
- 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
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
interferon regulatory factor 6
- Symbol
- IRF6
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:209,784,984-209,806,217
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 4479
- genetic association
- popliteal pterygium syndrome
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/3664
- genomic end
- 209979465
- genomic start
- 209785617
- chromosome
- human chromosome 1
- cytogenetic location
- 1q32.2
via Wikidata · CC0
~4 min read
Encyclopedic overview
7 sectionsContents
- 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.
Excerpted from Wikipedia’s “IRF6” article, available under the CC BY-SA 4.0 licence.