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

Gene ID: 9375, updated on 17-Jun-2019

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
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
109.20190607 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (99501472..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 RNY3 pseudogene 6 Neighboring gene long intergenic non-protein coding RNA 1039 Neighboring gene cofilin 1 pseudogene 8 Neighboring gene uncharacterized LOC105370332 Neighboring gene Sharpr-MPRA regulatory region 5963

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 Apr 4 07:08:55 2018

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_004800.3NP_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
    Consensus CDS
    CCDS9493.1
    UniProtKB/Swiss-Prot
    Q99805
    UniProtKB/TrEMBL
    A0A024QYR8
    Related
    ENSP00000365567.3, ENST00000376387.4
    Conserved Domains (1) summary
    pfam02990
    Location:75619
    EMP70; Endomembrane protein 70

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    99501472..99564048
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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