Sulfate transporter

SLC26A2
Identifiers
Aliases	SLC26A2, D5S1708, DTD, DTDST, EDM4, MST153, MSTP157, solute carrier family 26 member 2
External IDs	OMIM: 606718; MGI: 892977; HomoloGene: 73876; GeneCards: SLC26A2; OMA:SLC26A2 - orthologs
Gene location (Human)
Chr.	Chromosome 5 (human)
End	149,993,455 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	61,344,684 bp
RNA expression pattern
	Top expressed in
	mucosa of colon; ; mucosa of sigmoid colon; ; mucosa of transverse colon; ; rectum; ; seminal vesicula; ; mucosa of paranasal sinus; ; trigeminal ganglion; ; mucosa of ileum; ; skin of thigh; ; corpus epididymis;
	Top expressed in
	left colon; ; lacrimal gland; ; ileum; ; epithelium of stomach; ; salivary gland; ; parotid gland; ; transitional epithelium of urinary bladder; ; jejunum; ; rib; ; submandibular gland;
	More reference expression data
	n/a
Gene ontology
Molecular function	secondary active sulfate transmembrane transporter activity; bicarbonate transmembrane transporter activity; oxalate transmembrane transporter activity; chloride channel activity; sulfate transmembrane transporter activity; chloride transmembrane transporter activity;
Cellular component	integral component of membrane; membrane; extracellular exosome; integral component of plasma membrane; plasma membrane; apical plasma membrane; microvillus membrane;
Biological process	ossification; regulation of membrane potential; regulation of intracellular pH; chloride transmembrane transport; ion transport; bicarbonate transport; 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process; oxalate transport; transmembrane transport; sulfate transport; sulfate transmembrane transport; transport;
	Sources:Amigo / QuickGO
Orthologs
	1836
	13521
	ENSG00000155850
	ENSMUSG00000034320
	P50443
	Q62273
	NM_000112
	NM_007885
	NP_000103
	NP_031911
	Wikidata
View/Edit Human	View/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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000155850 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000034320 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ "Entrez Gene: SLC26A2".
^ 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.

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.{{cite journal}}: CS1 maint: unflagged free DOI (link)
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.{{cite journal}}: CS1 maint: unflagged free DOI (link)
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.

External links

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
- Online Mendelian Inheritance in Man (OMIM): Atelosteogenesis, Type II; AOII - 256050
Bonafé, Luisa; Mittaz-Crettol, Lauréane; Ballhausen, Diana; Superti-Furga, Andrea (2013-07-18). Diastrophic Dysplasia. NBK1350. In GeneReviews

SLC26A2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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

This membrane protein–related article is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000155850 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000034320 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid7923357-5] 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.

[entrez-6] "Entrez Gene: SLC26A2".

[pmid15703192-7] 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.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

Function

Clinical significance

References

Further reading

External links