• Gene id: 9375

Gene Summary

• Gene Symbol: TM9SF2   Gene   UCSC   Ensembl
• Aliases: P76
• Gene name: transmembrane 9 superfamily member 2
• Alternate names: transmembrane 9 superfamily member 2, 76 kDa membrane protein, dinucleotide oxidase disulfide thiol exchanger 3 superfamily member 2, epididymis secretory sperm binding protein, transmembrane protein 9 superfamily member 2,
• Gene location: 13q32.3 (99501471: 99564047)     Exons: 17     NC_000013.11
• Gene summary(Entrez): 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 dom
• OMIM: 604678

Protein Summary

• Protein general information: Q99805  
  • Name: Transmembrane 9 superfamily member 2 (p76)
  • Length: 663  
  • Mass: 75776
  • Tissue specificity: Ubiquitously expressed. Especially abundant in pancreas, highly expressed in kidney, lower levels in heart, brain, skeletal muscle and placenta. Lowest expression in lung and liver. {ECO
• Sequence:

  MSARLPVLSPPRWPRLLLLSLLLLGAVPGPRRSGAFYLPGLAPVNFCDEEKKSDECKAEIELFVNRLDSVESVLP
  YEYTAFDFCQASEGKRPSENLGQVLFGERIEPSPYKFTFNKKETCKLVCTKTYHTEKAEDKQKLEFLKKSMLLNY
  QHHWIVDNMPVTWCYDVEDGQRFCNPGFPIGCYITDKGHAKDACVISSDFHERDTFYIFNHVDIKIYYHVVETGS
  MGARLVAAKLEPKSFKHTHIDKPDCSGPPMDISNKASGEIKIAYTYSVSFEEDDKIRWASRWDYILESMPHTHIQ
  WFSIMNSLVIVLFLSGMVAMIMLRTLHKDIARYNQMDSTEDAQEEFGWKLVHGDIFRPPRKGMLLSVFLGSGTQI
  LIMTFVTLFFACLGFLSPANRGALMTCAVVLWVLLGTPAGYVAARFYKSFGGEKWKTNVLLTSFLCPGIVFADFF
  IMNLILWGEGSSAAIPFGTLVAILALWFCISVPLTFIGAYFGFKKNAIEHPVRTNQIPRQIPEQSFYTKPLPGII
  MGGILPFGCIFIQLFFILNSIWSHQMYYMFGFLFLVFIILVITCSEATILLCYFHLCAEDYHWQWRSFLTSGFTA
  VYFLIYAVHYFFSKLQITGTASTILYFGYTMIMVLIFFLFTGTIGFFACFWFVTKIYSVVKVD

• Structural information:
  • Interpro: IPR004240  
  • STRING: ENSP00000365567
• Other Databases: GeneCards:  TM9SF2  Malacards:  TM9SF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0072657	protein localization to membrane	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005768	endosome	TAS	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0150051	postsynaptic Golgi apparatus	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
acute lymphocytic leukemia	PMID:12730115
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881