Solute Carrier Family 26 (Sulfate Transporter), Member 2

Alternative Names

  • SLC26A2
  • DTD Sulfate Transporter
  • DTDST

Associated Diseases

Diastrophic Dysplasia
Back to search Result
OMIM Number

606718

NCBI Gene ID

1836

Uniprot ID

P50443

Length

32,719 bases

No. of Exons

3

No. of isoforms

1

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

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000112.3:c.1361A>CLebanonchr5:149980954PathogenicPathogenicDiastrophic DysplasiaNG_007147.2:g.22072A>C; NM_000112.3:c.1361A>C; NP_000103.2:p.Gln454Pro1048939214096
© CAGS 2024. All rights reserved.