Gene Gene information from NCBI Gene database.
Entrez ID 1836
Gene name Solute carrier family 26 member 2
Gene symbol SLC26A2
Synonyms (NCBI Gene)
D5S1708DTDDTDSTEDM4MST153MSTP157
Chromosome 5
Chromosome location 5q32
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 Re
SNPs SNP information provided by dbSNP.
82
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.
960
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0002062 Process Chondrocyte differentiation IEA
GO:0002062 Process Chondrocyte differentiation ISS
GO:0005452 Function Solute:inorganic anion antiporter activity IDA 20219950
GO:0005452 Function Solute:inorganic anion antiporter activity IEA
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606718 10994 ENSG00000155850
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
35
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
3MC syndrome 2 Likely pathogenic; Pathogenic rs104893915, rs104893919, rs386833492, rs104893924 RCV001030753
RCV001030754
RCV001030745
RCV001030750
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Achondrogenesis, type IB Likely pathogenic; Pathogenic rs773490671, rs2113698485, rs745774620, rs2113699101, rs2113699563, rs767996373, rs2113698329, rs2113698924, rs2113698845, rs2113695509, rs1581232733, rs2113699284, rs2113698870, rs2113698521, rs1255552826
View all (146 more)
RCV001379289
RCV001383933
RCV001382924
RCV001382138
RCV001882780
View all (163 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atelosteogenesis type II Likely pathogenic; Pathogenic rs773490671, rs2113698485, rs745774620, rs2113699101, rs2113699563, rs2113698650, rs767996373, rs2113698329, rs2113698924, rs2113698845, rs2113695509, rs1581232733, rs2113699284, rs2113698870, rs2113698521
View all (121 more)
RCV001379289
RCV001383933
RCV001382924
RCV001382138
RCV001882780
View all (138 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Connective tissue disorder Likely pathogenic; Pathogenic rs2113698812, rs386833498, rs104893915, rs104893924 RCV002278801
RCV002276529
RCV002276530
RCV002276531
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Achondrogenesis Uncertain significance; Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ACHONDROGENESIS TYPE IB CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atelosteogenesis Uncertain significance; Benign; Likely benign ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ATELOSTEOGENESIS TYPE 2 CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Achondrogenesis type 1B Achondrogenesis Orphanet
★☆☆☆☆
Found in Text Mining only
Achondrogenesis, type IB (disorder) Achondrogenesis CLINVAR_DG 10465113, 10482955, 11241838, 11448940, 12525546, 12966518, 15294877, 15316973, 16642506, 18925670, 20219950, 20525296, 20592910, 21077202, 21077204
View all (7 more)
★☆☆☆☆
Found in Text Mining only
Achondrogenesis, type IB (disorder) Achondrogenesis BEFREE 11570921, 12966518, 18708426, 21155763, 8702490, 8723100, 8931695, 9342225, 9637425
★☆☆☆☆
Found in Text Mining only
Achondrogenesis, type IB (disorder) Achondrogenesis GENOMICS_ENGLAND_DG 18925670
★☆☆☆☆
Found in Text Mining only
Achondrogenesis, type IB (disorder) Achondrogenesis UNIPROT_DG 8528239
★☆☆☆☆
Found in Text Mining only
Achondrogenesis, type IB (disorder) Achondrogenesis CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Acquired clubfoot Acquired Clubfoot BEFREE 11565064
★☆☆☆☆
Found in Text Mining only
Acquired Kyphoscoliosis Acquired Kyphoscoliosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 10192399, 24591336
★☆☆☆☆
Found in Text Mining only
Arthritis Juvenile Juvenile arthritis Pubtator 17393463 Associate
★☆☆☆☆
Found in Text Mining only