• Gene id: 757

Gene Summary

• Gene Symbol: TMEM50B   Gene   UCSC   Ensembl
• Aliases: C21orf4, HCVP7TP3
• Gene name: transmembrane protein 50B
• Alternate names: transmembrane protein 50B, HCV p7-trans-regulated protein 3, HCV p7-transregulated protein 3,
• Gene location: 21q22.11 (24465285: 24550465)     Exons: 12     NC_000023.11
• OMIM: 617894

SNPs

rs631357

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.20666326G>A
NC_000001.11   g.20666326G>C
NC_000001.10   g.20992819G>A
NC_000001.10   g.20992819G>C
NG_032064.1   g.219C>T
NG_032064.1   g.219C>G
NM_020816.3   c.2799C>T
NM_020816.3   c.2799C>G
NM_020816.4   c.2799C>T
NM_020816.4   c.2799C>G
NM_020816.2  

Protein Summary

• Protein general information: P56557  
  • Name: Transmembrane protein 50B (HCV p7 trans regulated protein 3)
  • Length: 158  
  • Mass: 17936
• Sequence:

  MAGFLDNFRWPECECIDWSERRNAVASVVAGILFFTGWWIMIDAAVVYPKPEQLNHAFHTCGVFSTLAFFMINAV
  SNAQVRGDSYESGCLGRTGARVWLFIGFMLMFGSLIASMWILFGAYVTQNTDVYPGLAVFFQNALIFFSTLIYKF
  GRTEELWT

• Structural information:
  • Interpro: IPR007919  
  • STRING: ENSP00000439768
• Other Databases: GeneCards:  TMEM50B  Malacards:  TMEM50B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032511	late endosome to vacuole transport via multivesicular body sorting pathway	IBA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	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: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: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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0005886	plasma membrane	HDA	cellular component
GO:0003674	molecular_function	ND	molecular function

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