• Gene id: 83604

Gene Summary

• Gene Symbol: TMEM47   Gene   UCSC   Ensembl
• Aliases: BCMP1, TM4SF10, VAB-9
• Gene name: transmembrane protein 47
• Alternate names: transmembrane protein 47, brain cell membrane protein 1, transmembrane 4 superfamily member 10,
• Gene location: Xp21.1 (34657284: 34627074)     Exons: 3     NC_000023.11
• Gene summary(Entrez): This gene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the plasma membrane. In dogs, transcripts of this gene exist at high levels in the brain. [provided by RefSeq, Jul 2008]
• OMIM: 300698

Protein Summary

• Protein general information: Q9BQJ4  
  • Name: Transmembrane protein 47 (Brain cell membrane protein 1) (Transmembrane 4 superfamily member 10)
  • Length: 181  
  • Mass: 19998
  • Tissue specificity: Expressed in adult brain, fetal brain, cerebellum, heart, lung, prostate and thyroid. {ECO
• Sequence:

  MASAGSGMEEVRVSVLTPLKLVGLVCIFLALCLDLGAVLSPAWVTADHQYYLSLWESCRKPASLDIWHCESTLSS
  DWQIATLALLLGGAAIILIAFLVGLISICVGSRRRFYRPVAVMLFAAVVLQVCSLVLYPIKFIETVSLKIYHEFN
  WGYGLAWGATIFSFGGAILYCLNPKNYEDYY

• Structural information:
  • Interpro: IPR015664  
  • STRING: ENSP00000275954
• Other Databases: GeneCards:  TMEM47  Malacards:  TMEM47

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030054	cell junction	IBA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005911	cell-cell junction	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
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