SLC26A2 solute carrier family 26 member 2

Gene ID: 1836, updated on 3-Nov-2024
Gene type: protein coding
Also known as: DTD; EDM4; DTDST; MST153; D5S1708; MSTP157

Summary

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 matrix organization. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Achondrogenesis, type IB MedGen: C0265274OMIM: 600972GeneReviews: Achondrogenesis Type 1B	See labs
Atelosteogenesis type II MedGen: C1850554OMIM: 256050GeneReviews: Atelosteogenesis Type 2	See labs
Diastrophic dysplasia MedGen: C0220726OMIM: 222600GeneReviews: Diastrophic Dysplasia	See labs
Multiple epiphyseal dysplasia type 4 MedGen: C1847593OMIM: 226900GeneReviews: SLC26A2-Related Multiple Epiphyseal Dysplasia	See labs
Sulfate transporter-related osteochondrodysplasia MedGen: CN120497GeneReviews: Not available	See labs

Genomic context

Location:: 5q32

Sequence:: Chromosome: 5; NC_000005.10 (149960758..149987400)

Total number of exons:: 3

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SLC26A2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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