Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1836
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 26 member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC26A2
Synonyms (NCBI Gene) Gene synonyms aliases
D5S1708, DTD, DTDST, EDM4, MST153, MSTP157
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DTD, EDM4
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q32
Summary Summary of gene provided in NCBI Entrez Gene.
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 Re
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs34351171 A>G Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant
rs76668544 G>A,T Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs104893915 C>T Pathogenic Coding sequence variant, missense variant
rs104893916 G>T Likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs104893917 G>A Pathogenic, uncertain-significance Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022513 hsa-miR-124-3p Microarray 18668037
MIRT024429 hsa-miR-215-5p Microarray 19074876
MIRT026445 hsa-miR-192-5p Microarray 19074876
MIRT030832 hsa-miR-21-5p Microarray 18591254
MIRT047699 hsa-miR-10a-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001503 Process Ossification IEA
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane IBA 21873635
GO:0005887 Component Integral component of plasma membrane IMP 7923357
GO:0006811 Process Ion transport TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606718 10994 ENSG00000155850
Protein
UniProt ID P50443
Protein name Sulfate transporter (Diastrophic dysplasia protein) (Solute carrier family 26 member 2)
Protein function Sulfate transporter which mediates sulfate uptake into chondrocytes in order to maintain adequate sulfation of proteoglycans which is needed for cartilage development (PubMed:11448940, PubMed:15294877, PubMed:20219950, PubMed:7923357). Mediates
PDB 7XLM , 8TNW , 8TNX , 8TNY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00916 Sulfate_transp 108 518 Sulfate permease family Family
PF01740 STAS 569 715 STAS domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:7923357}.
Sequence
Sequence length 739
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Chemical carcinogenesis - reactive oxygen species   Transport and synthesis of PAPS
Defective SLC26A2 causes chondrodysplasias
Multifunctional anion exchangers
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Achondrogenesis Achondrogenesis, type IB (disorder), Achondrogenesis type 1B rs386833498, rs786200881, rs104893919, rs104893920, rs104893916, rs386833492, rs104893924, rs267607138, rs863223281, rs121912876, rs121912878, rs121912879, rs121912884, rs121912888, rs121912899
View all (66 more)
26375458, 21922596, 15294877, 15316973, 21155763, 21077204, 12966518, 10482955, 11448940, 8571951, 8931695, 11241838, 9342225, 18925670, 16642506
View all (7 more)
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Atelosteogenesis Atelosteogenesis type 2, Atelosteogenesis type II rs386833498, rs786200881, rs104893915, rs104893924, rs121908894, rs121908895, rs28937587, rs386833495, rs386833499, rs121908077, rs587777259, rs875989951, rs1057517523, rs1057517496, rs1057517462
View all (18 more)
21077204, 8571951, 15294877, 26375458, 21155763, 16642506, 20219950, 10465113, 11241838, 8528239, 18925670, 21077202, 12966518, 15316973, 20525296
View all (8 more)
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Unknown
Disease term Disease name Evidence References Source
Pulmonary hypoplasia Congenital hypoplasia of lung ClinVar
Multiple Epiphyseal Dysplasia multiple epiphyseal dysplasia GenCC
Associations from Text Mining
Disease Name Relationship Type References
Aberrant Crypt Foci Associate 25314065
Achondrogenesis type 2 Associate 25146392
Arthritis Juvenile Associate 17393463
Asthma Stimulate 34427073
Breast Neoplasms Associate 28108622
Clubfoot Associate 11565064
Colitis Ulcerative Stimulate 39647286
Congenital dislocation of the patella Associate 20525296
Diastrophic dysplasia Associate 12193993, 17393463, 25146392
Epiphyseal dysplasia multiple 4 Associate 11565064, 20525296, 21922596, 29724173, 36140680