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sulfate transporter; diastrophic dysplasia protein; solute carrier family 26 member 2 (SLC26A2, DTD, DTDST)

Function: - sulfate transporter - may play a role in endochondral bone formation Structure: - belongs to the SLC26A/sulP transporter (TC 2.A.53) family - contains 1 STAS domain Compartment: membrane Expression: ubiquitously expressed Pathology: - defects in SLC26A2 are the cause of a) diastrophic dysplasia b) achondrogenesis type 1B c) atelosteogenesis type 2 d) multiple epiphyseal dysplasia type 4

Related

diastrophic dysplasia DTDST gene

General

glycoprotein phosphoprotein solute carrier family 26 (SLC26, SLC26A) transmembrane 12 protein

Properties

SIZE: entity length = 739 aa MW = 82 kD COMPARTMENT: cellular membrane MOTIF: cytoplasmic domain {1-111} MOTIF: Ser phosphorylation site {S12} Ser phosphorylation site {S16} transmembrane domain {112-132} exoplasmic loop {133-136} transmembrane domain {137-157} cytoplasmic loop {158-159} transmembrane domain {160-180} exoplasmic loop {181-218} MOTIF: N-glycosylation site {N199} N-glycosylation site {N205} transmembrane domain {219-239} cytoplasmic loop {240-241} transmembrane domain {242-262} exoplasmic loop {263-296} transmembrane domain {297-317} cytoplasmic loop {318-328} transmembrane domain {329-349} exoplasmic loop {350-377} MOTIF: N-glycosylation site {N357} transmembrane domain {378-398} cytoplasmic loop {399-420} transmembrane domain {421-441} exoplasmic loop {442-454} transmembrane domain {455-475} cytoplasmic loop {476-523} transmembrane domain {524-544} exoplasmic loop {545-643} STAS {568-719} MOTIF: transmembrane domain {644-664} cytoplasmic domain {665-739}

Database Correlations

OMIM correlations MORBIDMAP 606718 UniProt P50443 PFAM correlations Kegg hsa:1836

References

  1. UniProt :accession P50443
  2. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A2
  3. Hastbacka J et al The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 78:1073-87 1994 PMID: 7923357