• Gene id: 56889

Gene Summary

• Gene Symbol: TM9SF3   Gene   UCSC   Ensembl
• Aliases: EP70-P-iso, SMBP
• Gene name: transmembrane 9 superfamily member 3
• Alternate names: transmembrane 9 superfamily member 3, SM-11044 binding protein, dinucleotide oxidase disulfide thiol exchanger 3 superfamily member 3, endomembrane protein emp70 precursor isolog,
• Gene location: 10q24.1 (96587011: 96518109)     Exons: 16     NC_000010.11
• OMIM: 616872

Protein Summary

• Protein general information: Q9HD45  
  • Name: Transmembrane 9 superfamily member 3 (EP70 P iso) (SM 11044 binding protein)
  • Length: 589  
  • Mass: 67888
• Sequence:

  MRPLPGALGVAAAAALWLLLLLLPRTRADEHEHTYQDKEEVVLWMNTVGPYHNRQETYKYFSLPFCVGSKKSISH
  YHETLGEALQGVELEFSGLDIKFKDDVMPATYCEIDLDKEKRDAFVYAIKNHYWYQMYIDDLPIWGIVGEADENG
  EDYYLWTYKKLEIGFNGNRIVDVNLTSEGKVKLVPNTKIQMSYSVKWKKSDVKFEDRFDKYLDPSFFQHRIHWFS
  IFNSFMMVIFLVGLVSMILMRTLRKDYARYSKEEEMDDMDRDLGDEYGWKQVHGDVFRPSSHPLIFSSLIGSGCQ
  IFAVSLIVIIVAMIEDLYTERGSMLSTAIFVYAATSPVNGYFGGSLYARQGGRRWIKQMFIGAFLIPAMVCGTAF
  FINFIAIYYHASRAIPFGTMVAVCCICFFVILPLNLVGTILGRNLSGQPNFPCRVNAVPRPIPEKKWFMEPAVIV
  CLGGILPFGSIFIEMYFIFTSFWAYKIYYVYGFMMLVLVILCIVTVCVTIVCTYFLLNAEDYRWQWTSFLSAAST
  AIYVYMYSFYYYFFKTKMYGLFQTSFYFGYMAVFSTALGIMCGAIGYMGTSAFVRKIYTNVKID

• Structural information:
  • Interpro: IPR004240  
  • STRING: ENSP00000360184
• Other Databases: GeneCards:  TM9SF3  Malacards:  TM9SF3

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:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq