• Gene id: 1836

Gene Summary

• Gene Symbol: SLC26A2   Gene   UCSC   Ensembl
• Aliases: D5S1708, DTD, DTDST, EDM4, MST153, MSTP157
• Gene name: solute carrier family 26 member 2
• Alternate names: sulfate transporter, diastrophic dysplasia protein, solute carrier family 26 (anion exchanger), member 2, solute carrier family 26 (sulfate transporter), member 2, sulfate anion transporter 1,
• Gene location: 5q32 (149960757: 149987399)     Exons: 7     NC_000005.10
• Gene summary(Entrez): The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias. It apparently is critical in cartilage for sulfation of proteoglycans and matrix organization. [provided by Re
• OMIM: 606718

Protein Summary

• Protein general information: P50443  
  • Name: Sulfate transporter (Diastrophic dysplasia protein) (Solute carrier family 26 member 2)
  • Length: 739  
  • Mass: 81662
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MSSESKEQHNVSPRDSAEGNDSYPSGIHLELQRESSTDFKQFETNDQCRPYHRILIERQEKSDTNFKEFVIKKLQ
  KNCQCSPAKAKNMILGFLPVLQWLPKYDLKKNILGDVMSGLIVGILLVPQSIAYSLLAGQEPVYGLYTSFFASII
  YFLLGTSRHISVGIFGVLCLMIGETVDRELQKAGYDNAHSAPSLGMVSNGSTLLNHTSDRICDKSCYAIMVGSTV
  TFIAGVYQVAMGFFQVGFVSVYLSDALLSGFVTGASFTILTSQAKYLLGLNLPRTNGVGSLITTWIHVFRNIHKT
  NLCDLITSLLCLLVLLPTKELNEHFKSKLKAPIPIELVVVVAATLASHFGKLHENYNSSIAGHIPTGFMPPKVPE
  WNLIPSVAVDAIAISIIGFAITVSLSEMFAKKHGYTVKANQEMYAIGFCNIIPSFFHCFTTSAALAKTLVKESTG
  CHTQLSGVVTALVLLLVLLVIAPLFYSLQKSVLGVITIVNLRGALRKFRDLPKMWSISRMDTVIWFVTMLSSALL
  STEIGLLVGVCFSIFCVILRTQKPKSSLLGLVEESEVFESVSAYKNLQIKPGIKIFRFVAPLYYINKECFKSALY
  KQTVNPILIKVAWKKAAKRKIKEKVVTLGGIQDEMSVQLSHDPLELHTIVIDCSAIQFLDTAGIHTLKEVRRDYE
  AIGIQVLLAQCNPTVRDSLTNGEYCKKEEENLLFYSVYEAMAFAEVSKNQKGVCVPNGLSLSSD

• Structural information:
  • Protein Domains: (568..71-)
    (/note="STAS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00198"-)
  • Interpro: IPR018045  IPR011547  IPR001902  IPR030280  IPR002645   IPR036513  
  • Prosite: PS01130 PS50801
  • STRING: ENSP00000286298
• Other Databases: GeneCards:  SLC26A2  Malacards:  SLC26A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0015106	bicarbonate transmembrane transporter activity	IBA	molecular function
GO:0015108	chloride transmembrane transporter activity	IBA	molecular function
GO:0015116	sulfate transmembrane transporter activity	IBA	molecular function
GO:0015301	anion:anion antiporter activity	IBA	molecular function
GO:0019531	oxalate transmembrane transporter activity	IBA	molecular function
GO:0015116	sulfate transmembrane transporter activity	IMP	molecular function
GO:1902358	sulfate transmembrane transport	IMP	biological process
GO:0005887	integral component of plasma membrane	IMP	cellular component
GO:0001503	ossification	IEA	biological process
GO:0015116	sulfate transmembrane transporter activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0008271	secondary active sulfate transmembrane transporter activity	IEA	molecular function
GO:0008272	sulfate transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:1902358	sulfate transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006811	ion transport	TAS	biological process
GO:0050428	3'-phosphoadenosine 5'-phosphosulfate biosynthetic process	TAS	biological process
GO:0015116	sulfate transmembrane transporter activity	IEA	molecular function
GO:0001503	ossification	IEA	biological process
GO:0031528	microvillus membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0008272	sulfate transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0015701	bicarbonate transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0019532	oxalate transport	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Multiple epiphyseal dysplasia	KEGG:H00476
Atelosteogenesis type II	KEGG:H00515
Diastrophic dysplasia	KEGG:H02063
Achondrogenesis type IB	KEGG:H02065
Multiple epiphyseal dysplasia	KEGG:H00476
Atelosteogenesis type II	KEGG:H00515
Diastrophic dysplasia	KEGG:H02063
Achondrogenesis type IB	KEGG:H02065
Brachydactyly	PMID:21155763
Multiple epiphyseal dysplasia 4	PMID:24598000
Achondrogenesis type IB	PMID:8528239
Osteochondrodysplasia	PMID:8571951
Spondylosis	PMID:26077908
juvenile rheumatoid arthritis	PMID:17393463
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)