TM9SF2 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
TM9SF2
Official Name
transmembrane 9 superfamily member 2 [Source:HGNC Symbol;Acc:HGNC:11865]
Ensembl ID
ENSG00000125304
Bio databases IDs NCBI: 9375 Ensembl: ENSG00000125304
Aliases transmembrane 9 superfamily member 2
Synonyms 1500001N15Rik, D14Ertd64e, Lnc-PCIR, P76, transmembrane 9 superfamily member 2
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TM9SF2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Endomembrane protein 70
  • transporter

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • asthma
  • preeclampsia
  • infection by HIV-1
regulated by
regulates
  • heparan sulfate proteoglycan
  • ceramide
  • glycosphingolipid

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • endosomal membrane fractions
  • pH resistant lipid raft fraction
  • Nucleus
  • endosomes
  • Golgi Apparatus
  • Golgi membrane
  • endosomal membrane
  • membrane rafts

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human TM9SF2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • protein localization in membrane
  • ceramide metabolic process
  • glycosphingolipid biosynthetic process
  • regulation of heparan sulfate proteoglycan biosynthetic process

Cellular Component

Where in the cell the gene product is active
  • endosome
  • extracellular vesicular exosome
  • microtubule organizing center
  • membrane
  • endosome membrane
  • Golgi apparatus
  • plasma membrane

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.