Solute Carrier Family 26 (Sulfate Transporter), Member 2

Alternative Names

SLC26A2
DTD Sulfate Transporter
DTDST

Length

32,719 bases

No. of Exons

No. of isoforms

Protein Name

Sulfate transporter

Molecular Mass

81662 Da

Amino Acid Count

739

Genomic Location

chr5:149,960,737-149,993,455

Gene Map Locus

5q32

Description

The SLC26A2 gene codes for a sulphate transporter protein, that plays an especially important role in developing cartilages. Mutations in this gene can result in Diasyrophic Dysplasia, a rare chondrodysplasia.

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000112.3:c.1361A>C	Lebanon	chr5:149980954	Pathogenic	Pathogenic	Diastrophic Dysplasia	NG_007147.2:g.22072A>C; NM_000112.3:c.1361A>C; NP_000103.2:p.Gln454Pro	104893921	4096
NM_000112.4:c.1011TGT[3]	Saudi Arabia	NC_000005.10:g.149980604TGT[3]	Likely Pathogenic, Pathogenic	Likely Pathogenic		NG_007147.2:g.21722TGT[3] ; NM_000112.4:c.1011TGT[3]; NP_000103.2:p.Val341del	121908077	65558
NM_000112.4:c.1721T>C	Yemen	NC_000005.10:g.149981314T>C	Benign	Likely Benign		NG_007147.2:g.22432T>C; NM_000112.4:c.1721T>C; NP_000103.2:p.Ile574Thr	30832	196209
NM_000112.4:c.1724del	Saudi Arabia	NC_000005.10:g.149981317del	Pathogenic	Pathogenic		NG_007147.2:g.22435del; NM_000112.4:c.1724del; NP_000103.2:p.Lys575SerfsTer10	386833498	4087

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External Links

https://ghr.nlm.nih.gov/gene/SLC26A2 https://medlineplus.gov/genetics/gene/slc26a2/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A2

Contributors

Sami Bizzari: 03.08.2021
Pratibha Nair: 27.02.2019

Edit History

Sami Bizzari: 04.08.2021
Sami Bizzari: 03.08.2021
Pratibha Nair: 13.07.2021
Pratibha Nair: 27.02.2019

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