• Gene id: 84925

Gene Summary

• Gene Symbol: SLC49A4   Gene   UCSC   Ensembl
• Aliases: DIRC2, RCC4
• Gene name: solute carrier family 49 member 4
• Alternate names: solute carrier family 49 member 4, disrupted in renal cancer protein 2, disrupted in renal carcinoma 2, renal cell carcinoma 4,
• Gene location: 3q21.1 (122795057: 122892156)     Exons: 10     NC_000003.12
• Gene summary(Entrez): This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants h
• OMIM: 602773

Protein Summary

• Protein general information: Q96SL1  
  • Name: Solute carrier family 49 member 4 (Disrupted in renal cancer protein 2) (Disrupted in renal carcinoma protein 2)
  • Length: 478  
  • Mass: 52088
  • Tissue specificity: Ubiquitous. Expressed in proximal tubular cells of the kidney. {ECO
• Sequence:

  MGSRWSSEEERQPLLGPGLGPGLGASWRSREAAAAALPAAVPGPGRVYGRRWLVLLLFSLLAFVQGLVWNTWGPI
  QNSARQAYGFSSWDIALLVLWGPIGFLPCFAFMWLLDKRGLRITVLLTSFLMVLGTGLRCIPISDLILKRRLIHG
  GQMLNGLAGPTVMNAAPFLSTTWFSADERATATAIASMLSYLGGACAFLVGPLVVPAPNGTSPLLAAESSRAHIK
  DRIEAVLYAEFGVVCLIFSATLAYFPPRPPLPPSVAAASQRLSYRRSVCRLLSNFRFLMIALAYAIPLGVFAGWS
  GVLDLILTPAHVSQVDAGWIGFWSIVGGCVVGIAMARFADFIRGMLKLILLLLFSGATLSSTWFTLTCLNSITHL
  PLTTVTLYASCILLGVFLNSSVPIFFELFVETVYPVPEGITCGVVTFLSNMFMGVLLFFLTFYHTELSWFNWCLP
  GSCLLSLLLILCFRESYDRLYLDVVVSV

• Structural information:
  • Interpro: IPR036259  
  • STRING: ENSP00000261038
• Other Databases: GeneCards:  SLC49A4  Malacards:  SLC49A4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

Diseases

Associated diseases	References
renal cell carcinoma	PMID:11912179
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray