• Gene id: 142684

Gene Summary

• Gene Symbol: RAB40A   Gene   UCSC   Ensembl
• Aliases: RAR2, RAR2A
• Gene name: RAB40A, member RAS oncogene family
• Alternate names: ras-related protein Rab-40A, SOCS box-containing protein RAR2A, protein Rar-2,
• Gene location: Xq22.2 (103519488: 103499129)     Exons: 3     NC_000023.11
• Gene summary(Entrez): This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. [provided by RefSeq, Apr 2010]

Protein Summary

• Protein general information: Q8WXH6  
  • Name: Ras related protein Rab 40A (SOCS box containing protein RAR2A) (Protein Rar 2)
  • Length: 277  
  • Mass: 31076
• Sequence:

  MSAPGSPDQAYDFLLKFLLVGDRDVGKSEILESLQDGAAESPYSHLGGIDYKTTTILLDGQRVKLKLWDTSGQGR
  FCTIFRSYSRGAQGVILVYDIANRWSFEGMDRWIKKIEEHAPGVPKILVGNRLHLAFKRQVPREQAQAYAERLGV
  TFFEVSPLCNFNIIESFTELARIVLLRHRMNWLGRPSKVLSLQDLCCRTIVSCTPVHLVDKLPLPSTLRSHLKSF
  SMAKGLNARMMRGLSYSLTTSSTHKSSLCKVEIVCPPQSPPKNCTRNSCKIS

• Structural information:
  • Protein Domains: (175..22-)
    (/note="SOCS-box)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00194"-)
  • Interpro: IPR027417  IPR005225  IPR001806  IPR001496  IPR036036  
  • Prosite: PS51419 PS50225
  • STRING: ENSP00000361716
• Other Databases: GeneCards:  RAB40A  Malacards:  RAB40A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0072659	protein localization to plasma membrane	IBA	biological process
GO:0032482	Rab protein signal transduction	IBA	biological process
GO:0012505	endomembrane system	IBA	cellular component
GO:0008021	synaptic vesicle	IBA	cellular component
GO:0005768	endosome	IBA	cellular component
GO:0003924	GTPase activity	IBA	molecular function
GO:0006886	intracellular protein transport	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
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)