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    IGSF6 immunoglobulin superfamily member 6 [ Homo sapiens (human) ]

    Gene ID: 10261, updated on 5-Mar-2024

    Summary

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    Official Symbol
    IGSF6provided by HGNC
    Official Full Name
    immunoglobulin superfamily member 6provided by HGNC
    Primary source
    HGNC:HGNC:5953
    See related
    Ensembl:ENSG00000140749 MIM:606222; AllianceGenome:HGNC:5953
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DORA
    Summary
    Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in cell surface receptor signaling pathway and immune response. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in spleen (RPKM 32.0), appendix (RPKM 25.4) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IGSF6 in Genome Data Viewer
    Location:
    16p12.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (21639550..21652608, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (22564326..22577384)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (21650871..21663929, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21549325-21549826 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21549827-21550326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:21552333-21553071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10557 Neighboring gene carbonic anhydrase 5A pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21561118-21561618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21562361-21562862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21565604-21566414 Neighboring gene uncharacterized LOC101927814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7257 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:21611613-21612177 Neighboring gene methyltransferase 9, His-X-His N1(pi)-histidine Neighboring gene uncharacterized LOC124903663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10558 Neighboring gene RNA, U6 small nuclear 1005, pseudogene Neighboring gene RNA, U6 small nuclear 196, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10559 Neighboring gene otoancorin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10560 Neighboring gene uncharacterized LOC105371126 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:21801669-21802169

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Genetic variation in the IGSF6 gene and lack of association with inflammatory bowel disease. King K, et al. Eur J Immunogenet, 2003 Jun. PMID 12786995
    2. CD40L activation of dendritic cells down-regulates DORA, a novel member of the immunoglobulin superfamily. Bates EE, et al. Mol Immunol, 1998 Jun. PMID 9809579
    3. The mouse and human IGSF6 (DORA) genes map to the inflammatory bowel disease 1 locus and are embedded in an intron of a gene of unknown function. Bates EE, et al. Immunogenetics, 2000 Nov. PMID 11132146
    4. Induction of IL-17 and nonclassical T-cell activation by HIV-Tat protein. Johnson TP, et al. Proc Natl Acad Sci U S A, 2013 Aug 13. PMID 23898208, Free PMC Article
    5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Immunoglobulin superfamily 6 is a molecule involved in the anti-tumor activity of macrophages in lung adenocarcinoma.
      Title: Immunoglobulin superfamily 6 is a molecule involved in the anti-tumor activity of macrophages in lung adenocarcinoma.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variation in the IGSF6 gene and lack of association with inflammatory bowel disease.
    3. There was no evidence for association of the common IGSF6 single nucleotide polymorphisms with disease in a large cohort of patients with inflammatory bowel disease
      Title: Genetic variation in the IGSF6 gene and lack of association with inflammatory bowel disease.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat downregulates the expression of immunoglobulin superfamily, member 6 (IGSF6) in human primary T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables transmembrane signaling receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell surface receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in immune response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    immunoglobulin superfamily member 6
    Names
    down-regulated by activation (immunoglobulin superfamily)

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_005849.4 → NP_005840.2  immunoglobulin superfamily member 6 precursor

      See identical proteins and their annotated locations for NP_005840.2

      Status: VALIDATED

      Source sequence(s)
      AC092719, AJ223183, BC017844, CD369238
      Consensus CDS
      CCDS10599.1
      UniProtKB/Swiss-Prot
      O95976, Q8WWD8
      Related
      ENSP00000268389.4, ENST00000268389.6
      Conserved Domains (1) summary
      cl11960
      Location:33 → 142
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      21639550..21652608 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_017852933.1 Reference GRCh38.p14 PATCHES

      Range
      1452220..1465278
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      22564326..22577384
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95976.2 GenPept UniProtKB/Swiss-Prot:O95976

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
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    Tools
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