Format

Send to:

Choose Destination
    • Showing Current items.

    TM9SF2 transmembrane 9 superfamily member 2 [ Homo sapiens (human) ]

    Gene ID: 9375, updated on 8-Oct-2018

    Summary

    Official Symbol
    TM9SF2provided by HGNC
    Official Full Name
    transmembrane 9 superfamily member 2provided by HGNC
    Primary source
    HGNC:HGNC:11865
    See related
    Ensembl:ENSG00000125304 MIM:604678; Vega:OTTHUMG00000017272
    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
    P76
    Summary
    This gene encodes a member of the transmembrane 9 superfamily. The encoded 76 kDa protein localizes to early endosomes in human cells. The encoded protein possesses a conserved and highly hydrophobic C-terminal domain which contains nine transmembrane domains. The protein may play a role in small molecule transport or act as an ion channel. A pseudogene associated with this gene is located on the X chromosome. [provided by RefSeq, Oct 2012]
    Expression
    Ubiquitous expression in thyroid (RPKM 79.3), colon (RPKM 75.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See TM9SF2 in Genome Data Viewer
    Location:
    13q32.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (99501374..99564048)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (100153628..100216302)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1232 Neighboring gene long intergenic non-protein coding RNA 449 Neighboring gene RNA, Ro-associated Y3 pseudogene 6 Neighboring gene long intergenic non-protein coding RNA 1039 Neighboring gene cofilin 1 pseudogene 8 Neighboring gene uncharacterized LOC105370332

    Genomic regions, transcripts, and products

    Expression

    • 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of transmembrane 9 superfamily member 2 (TM9SF2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ26287, MGC117391

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    protein localization to membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    endosome TAS
    Traceable Author Statement
    more info
    PubMed 
    endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome HDA PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    transmembrane 9 superfamily member 2
    Names
    76 kDa membrane protein
    dinucleotide oxidase disulfide thiol exchanger 3 superfamily member 2
    epididymis secretory sperm binding protein
    transmembrane protein 9 superfamily member 2

    NCBI Reference Sequences (RefSeq)

    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_004800.2NP_004791.1  transmembrane 9 superfamily member 2 precursor

      See identical proteins and their annotated locations for NP_004791.1

      Status: REVIEWED

      Source sequence(s)
      AL139035, BC110656, DB024878
      Consensus CDS
      CCDS9493.1
      UniProtKB/Swiss-Prot
      Q99805
      UniProtKB/TrEMBL
      A0A024QYR8
      Related
      ENSP00000365567.3, OTTHUMP00000018623, ENST00000376387.4, OTTHUMT00000045602
      Conserved Domains (1) summary
      pfam02990
      Location:75619
      EMP70; Endomembrane protein 70

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

      Range
      99501374..99564048
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center