SLC26A2

SLC26A2
Identifiers
AliasesSLC26A2, D5S1708, DTD, DTDST, EDM4, MST153, MSTP157, solute carrier family 26 member 2
External IDsOMIM: 606718 MGI: 892977 HomoloGene: 73876 GeneCards: SLC26A2
Gene location (Human)
Chr.Chromosome 5 (human)[1]
Band5q32Start149,960,737 bp[1]
End149,993,455 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

1836

13521

Ensembl

ENSG00000155850

ENSMUSG00000034320

UniProt

P50443

Q62273

RefSeq (mRNA)

NM_000112

NM_007885

RefSeq (protein)

NP_000103

NP_031911

Location (UCSC)Chr 5: 149.96 – 149.99 MbChr 18: 61.19 – 61.21 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The SLC26A2 protein is a member of the solute carrier family. In humans, this transporter is encoded by the SLC26A2 gene.[5]

Function

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 extracellular matrix organization.[6]

Clinical significance

Deficiencies are associated with many forms of osteochondrodysplasia.[7] These include:

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000155850 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034320 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ Hästbacka J; de la Chapelle A; Mahtani MM; Clines G; Reeve-Daly MP; Daly M; Hamilton BA; Kusumi K; Trivedi B; Weaver A (September 1994). "The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping". Cell. 78 (6): 1073–87. doi:10.1016/0092-8674(94)90281-X. PMID 7923357.
  6. ↑ "Entrez Gene: SLC26A2".
  7. ↑ Forlino A, Piazza R, Tiveron C, et al. (March 2005). "A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype". Hum. Mol. Genet. 14 (6): 859–71. doi:10.1093/hmg/ddi079. PMID 15703192.

Further reading

  • Rossi A, Kaitila I, Wilcox WR, et al. (1998). "Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production". Matrix Biol. 17 (5): 361–9. doi:10.1016/S0945-053X(98)90088-9. PMID 9822202.
  • Jakkula E, Mäkitie O, Czarny-Ratajczak M, et al. (2005). "Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations". Eur. J. Hum. Genet. 13 (3): 292–301. doi:10.1038/sj.ejhg.5201314. PMID 15523498.
  • Bonafé L, Hästbacka J, de la Chapelle A, et al. (2008). "A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia". J. Med. Genet. 45 (12): 827–31. doi:10.1136/jmg.2007.057158. PMC 4361899. PMID 18708426.
  • Lohi H, Kujala M, Makela S, et al. (2002). "Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9". J. Biol. Chem. 277 (16): 14246–54. doi:10.1074/jbc.M111802200. PMID 11834742.
  • Lamb R, Thomson W, et al. (2007). "Positive association of SLC26A2 gene polymorphisms with susceptibility to systemic-onset juvenile idiopathic arthritis". Arthritis Rheum. 56 (4): 1286–91. doi:10.1002/art.22444. PMID 17393463.
  • Ikeda T, Mabuchi A, Fukuda A, et al. (2001). "Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis". J. Hum. Genet. 46 (9): 538–43. doi:10.1007/s100380170036. PMID 11558903.
  • Mégarbané A, Haddad FA, Haddad-Zebouni S, et al. (1999). "Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia". Clin. Genet. 56 (1): 71–6. doi:10.1034/j.1399-0004.1999.560110.x. PMID 10466420.
  • Markovich D (2001). "Physiological roles and regulation of mammalian sulfate transporters". Physiol. Rev. 81 (4): 1499–533. PMID 11581495.
  • Pecora F, Gualeni B, Forlino A, et al. (2006). "In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfation". Biochem. J. 398 (3): 509–14. doi:10.1042/BJ20060566. PMC 1559448. PMID 16719839.
  • Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Satoh H, Susaki M, Shukunami C, et al. (1998). "Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans". J. Biol. Chem. 273 (20): 12307–15. doi:10.1074/jbc.273.20.12307. PMID 9575183.
  • Mäkitie O, Savarirayan R, Bonafé L, et al. (2003). "Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign". Am. J. Med. Genet. A. 122A (3): 187–92. doi:10.1002/ajmg.a.20282. PMID 12966518.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Lohi H, Kujala M, Kerkelä E, et al. (2000). "Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger". Genomics. 70 (1): 102–12. doi:10.1006/geno.2000.6355. PMID 11087667.
  • Galante LL; Schwarzbauer JE (2007). "Requirements for sulfate transport and the diastrophic dysplasia sulfate transporter in fibronectin matrix assembly". J. Cell Biol. 179 (5): 999–1009. doi:10.1083/jcb.200707150. PMC 2099202. PMID 18056413.
  • Rossi A, Cetta G, Piazza R, et al. (2003). "In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias". Pediatr Pathol Mol Med. 22 (4): 311–21. doi:10.1080/15227950307720. PMID 14692227.
  • Remes VM; Hästbacka JR; Poussa MS; Peltonen JI (2002). "Does genotype predict development of the spinal deformity in patients with diastrophic dysplasia?". Eur Spine J. 11 (4): 327–31. doi:10.1007/s00586-002-0413-y. PMC 3610472. PMID 12193993.
  • Haila S, Hästbacka J, Böhling T, et al. (2001). "SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types". J. Histochem. Cytochem. 49 (8): 973–82. doi:10.1177/002215540104900805. PMID 11457925.
  • Huang QY; Li GH; Kung AW (2009). "The -9247 T/C polymorphism in the SOST upstream regulatory region that potentially affects C/EBPalpha and FOXA1 binding is associated with osteoporosis". Bone. 45 (2): 289–94. doi:10.1016/j.bone.2009.03.676. PMID 19371798.

  • Bonafé, Luisa; Mittaz-Crettol, Lauréane; Ballhausen, Diana; Superti-Furga, Andrea (2014-01-23). Multiple Epiphyseal Dysplasia, Recessive. NBK1306. In Pagon RA; Bird TD; Dolan CR; et al. (eds.). GeneReviews™ [Internet]. Seattle WA: University of Washington, Seattle.
  • Bonafé, Luisa; Mittaz-Crettol, Lauréane; Ballhausen, Diana; Superti-Furga, Andrea (2014-01-23). Atelosteogenesis Type 2. NBK1317. In GeneReviews
  • Bonafé, Luisa; Mittaz-Crettol, Lauréane; Ballhausen, Diana; Superti-Furga, Andrea (2013-07-18). Diastrophic Dysplasia. NBK1350. In GeneReviews

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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