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    IRF6 interferon regulatory factor 6 [ Homo sapiens (human) ]

    Gene ID: 3664, updated on 25-Jul-2015
    Official Symbol
    IRF6provided by HGNC
    Official Full Name
    interferon regulatory factor 6provided by HGNC
    Primary source
    HGNC:HGNC:6121
    See related
    Ensembl:ENSG00000117595; HPRD:06227; MIM:607199; Vega:OTTHUMG00000036521
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LPS; PIT; PPS; VWS; OFC6; PPS1; VWS1
    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]
    Orthologs
    See IRF6 in Epigenomics, MapViewer
    Location:
    1q32.3-q41
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (209785623..209806175, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (209958968..209979520, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101930114 Neighboring gene adenosine A2b receptor pseudogene 1 Neighboring gene TRAF3 interacting protein 3 Neighboring gene chromosome 1 open reading frame 74 Neighboring gene digestive organ expansion factor homolog (zebrafish) Neighboring gene synaptotagmin XIV

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Orofacial cleft 6, susceptibility to
    MedGen: C1837213 OMIM: 608864 GeneReviews: Not available
    Compare labs
    Popliteal pterygium syndrome
    MedGen: C0265259 OMIM: 119500 GeneReviews: IRF6-Related Disorders
    Compare labs
    Van der Woude syndrome
    MedGen: C0175697 OMIM: 119300 GeneReviews: IRF6-Related Disorders
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-07-06)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-06)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.
    NHGRI GWA Catalog
    Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
    NHGRI GWA Catalog
    Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.
    NHGRI GWA Catalog
    • Apoptosis, organism-specific biosystem (from WikiPathways)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Interferon Signaling, organism-specific biosystem (from REACTOME)
      Interferon Signaling, organism-specific biosystemInterferons (IFNs) are cytokines that play a central role in initiating immune responses, especially antiviral and antitumor effects. There are three types of IFNs:Type I (IFN-alpha, -beta and others...
    • Interferon alpha/beta signaling, organism-specific biosystem (from REACTOME)
      Interferon alpha/beta signaling, organism-specific biosystemType I interferons (IFNs) are composed of various genes including IFN alpha (IFNA), beta (IFNB), omega, epsilon, and kappa. In humans the IFNA genes are composed of more than 13 subfamily genes, wher...
    • Interferon gamma signaling, organism-specific biosystem (from REACTOME)
      Interferon gamma signaling, organism-specific biosystemInterferon-gamma (IFN-gamma) belongs to the type II interferon family and is secreted by activated immune cells-primarily T and NK cells, but also B-cells and APC. INFG exerts its effect on cells by ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    regulatory region DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor activity, sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    cell cycle arrest IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell development IEA
    Inferred from Electronic Annotation
    more info
     
    cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    interferon-gamma-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    keratinocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    keratinocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    mammary gland epithelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    type I interferon signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    interferon regulatory factor 6

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007081.2 RefSeqGene

      Range
      4960..25512
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001206696.1NP_001193625.1  interferon regulatory factor 6 isoform 2

      See identical proteins and their annotated locations for NP_001193625.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK296960, AL022398, DA016081
      Consensus CDS
      CCDS55681.1
      UniProtKB/Swiss-Prot
      O14896
      Related
      ENSP00000440532, ENST00000542854
      Conserved Domains (1) summary
      pfam10401
      Location:128312
      IRF-3; Interferon-regulatory factor 3
    2. NM_006147.3NP_006138.1  interferon regulatory factor 6 isoform 1

      See identical proteins and their annotated locations for NP_006138.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL022398, BC014852, DA016081
      Consensus CDS
      CCDS1492.1
      UniProtKB/TrEMBL
      G0Z349
      UniProtKB/Swiss-Prot
      O14896
      Related
      ENSP00000355988, OTTHUMP00000034677, ENST00000367021, OTTHUMT00000088827
      Conserved Domains (2) summary
      cd00103
      Location:7115
      IRF; Interferon Regulatory Factor (IRF); also known as tryptophan pentad repeat. The family of IRF transcription factors is important in the regulation of interferons in response to infection by virus and in the regulation of interferon-inducible genes. The ...
      pfam10401
      Location:223407
      IRF-3; Interferon-regulatory factor 3

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

      Range
      209785623..209806175
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      211231296..211251831
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)