• Gene id: 9777

Gene Summary

• Gene Symbol: TM9SF4   Gene   UCSC   Ensembl
• Aliases: dJ836N17.2
• Gene name: transmembrane 9 superfamily member 4
• Alternate names: transmembrane 9 superfamily member 4, dinucleotide oxidase disulfide thiol exchanger 3 superfamily member 4, transmembrane 9 superfamily protein member 4, tumor cannibalism associated protein 1,
• Gene location: 20q11.21 (32109713: 32167257)     Exons: 20     NC_000020.11
• OMIM: 617727

Protein Summary

• Protein general information: Q92544  
  • Name: Transmembrane 9 superfamily member 4 (Tumor cannibalism associated protein 1)
  • Length: 642  
  • Mass: 74519
  • Tissue specificity: Highly expressed in metastatic melanoma cells whereas it is undetectable in primary melanoma cells, healthy skin tissues and peripheral blood lymphocytes. Expressed in CD34(+) hematopoietic progenitor cells and during monocyte and gran
• Sequence:

  MATAMDWLPWSLLLFSLMCETSAFYVPGVAPINFHQNDPVEIKAVKLTSSRTQLPYEYYSLPFCQPSKITYKAEN
  LGEVLRGDRIVNTPFQVLMNSEKKCEVLCSQSNKPVTLTVEQSRLVAERITEDYYVHLIADNLPVATRLELYSNR
  DSDDKKKEKDVQFEHGYRLGFTDVNKIYLHNHLSFILYYHREDMEEDQEHTYRVVRFEVIPQSIRLEDLKADEKS
  SCTLPEGTNSSPQEIDPTKENQLYFTYSVHWEESDIKWASRWDTYLTMSDVQIHWFSIINSVVVVFFLSGILSMI
  IIRTLRKDIANYNKEDDIEDTMEESGWKLVHGDVFRPPQYPMILSSLLGSGIQLFCMILIVIFVAMLGMLSPSSR
  GALMTTACFLFMFMGVFGGFSAGRLYRTLKGHRWKKGAFCTATLYPGVVFGICFVLNCFIWGKHSSGAVPFPTMV
  ALLCMWFGISLPLVYLGYYFGFRKQPYDNPVRTNQIPRQIPEQRWYMNRFVGILMAGILPFGAMFIELFFIFSAI
  WENQFYYLFGFLFLVFIILVVSCSQISIVMVYFQLCAEDYRWWWRNFLVSGGSAFYVLVYAIFYFVNKLDIVEFI
  PSLLYFGYTALMVLSFWLLTGTIGFYAAYMFVRKIYAAVKID

• Structural information:
  • Interpro: IPR004240  
  • STRING: ENSP00000381104
• Other Databases: GeneCards:  TM9SF4  Malacards:  TM9SF4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IBA	cellular component
GO:0072657	protein localization to membrane	IBA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0001666	response to hypoxia	IDA	biological process
GO:0005769	early endosome	IDA	cellular component
GO:0006909	phagocytosis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0070072	vacuolar proton-transporting V-type ATPase complex assembly	IMP	biological process
GO:2000010	positive regulation of protein localization to cell surface	IMP	biological process
GO:0070863	positive regulation of protein exit from endoplasmic reticulum	IMP	biological process
GO:0007155	cell adhesion	IMP	biological process
GO:0051453	regulation of intracellular pH	IMP	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
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)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray