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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3400
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
3MC syndrome 2 Likely pathogenic; Pathogenic rs104893915, rs104893919, rs386833492, rs104893924 RCV001030753
RCV001030754
RCV001030745
RCV001030750
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
RCV001868878
RCV001955312
RCV001943291
RCV001881354
RCV001941733
RCV001994236
RCV001886656
RCV001969619
RCV002050752
RCV001940730
RCV002014921
RCV002037914
RCV002002439
RCV001994653
RCV002000005
RCV002002498
RCV001939370
RCV001913374
RCV001972416
RCV001946872
RCV001879344
RCV001949544
RCV001947014
RCV001881129
RCV001977395
RCV001973698
RCV003475308
RCV003774690
RCV003096288
RCV002466793
RCV001850400
RCV002598594
RCV000023567
RCV001851639
RCV000641290
RCV000797878
RCV000023568
RCV000023569
RCV000023570
RCV000763135
RCV000411019
RCV002512749
RCV002820231
RCV002791447
RCV002819845
RCV002796859
RCV002861503
RCV002871682
RCV002886471
RCV002872377
RCV002999840
RCV003030764
RCV003014521
RCV003020212
RCV003026334
RCV003047951
RCV003472853
RCV003472854
RCV003472855
RCV003472856
RCV003472857
RCV003472858
RCV003472859
RCV003472860
RCV003472861
RCV003472862
RCV003472864
RCV003472865
RCV003472866
RCV003779117
RCV003472869
RCV003472870
RCV003472871
RCV003472872
RCV003785566
RCV003787808
RCV003788236
RCV003796205
RCV003806409
RCV003791562
RCV003803715
RCV003801605
RCV003804188
RCV003800570
RCV003803354
RCV003809134
RCV003794884
RCV003800523
RCV003818025
RCV003810023
RCV003807328
RCV004573335
RCV003812968
RCV004573620
RCV004573621
RCV004573622
RCV004573623
RCV004573624
RCV004573625
RCV004573626
RCV004573627
RCV004573628
RCV000410073
RCV000412405
RCV000409102
RCV000409666
RCV000411337
RCV000409182
RCV000411619
RCV000411764
RCV000409703
RCV000410085
RCV000410703
RCV000410391
RCV000411307
RCV000410772
RCV000409864
RCV000409746
RCV000411101
RCV000412444
RCV000411126
RCV000410720
RCV001857164
RCV000809074
RCV001215180
RCV001855528
RCV003767990
RCV001382581
RCV001855439
RCV001855612
RCV001861770
RCV002532114
RCV003472176
RCV003768001
RCV001388087
RCV002531294
RCV000813006
RCV000811272
RCV001388086
RCV000410056
RCV000641291
RCV000411727
RCV003474628
RCV001853039
RCV002496723
RCV002514249
RCV003474631
RCV000023571
RCV001007924
RCV001036925
RCV001062264
RCV001043459
RCV001828598
RCV001390701
RCV001223969
RCV001204217
RCV001212481
RCV001238172
RCV001234308
RCV001236938
RCV001247326
RCV001242692
RCV001253229
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
RCV001779964
RCV001868878
RCV001955312
RCV001943291
RCV001881354
RCV001941733
RCV001994236
RCV001886656
RCV001969619
RCV002050752
RCV001940730
RCV002014921
RCV002037914
RCV002002439
RCV001994653
RCV002000005
RCV002002498
RCV001939370
RCV001913374
RCV001972416
RCV001946872
RCV001879344
RCV001949544
RCV001947014
RCV001881129
RCV001977395
RCV001973698
RCV003774690
RCV003096288
RCV001850400
RCV002598594
RCV000004303
RCV000004304
RCV000004305
RCV000004309
RCV000411745
RCV001851641
RCV000763135
RCV000409936
RCV002512749
RCV002820231
RCV002791447
RCV002819845
RCV002796859
RCV002861503
RCV002871682
RCV002886471
RCV002872377
RCV002999840
RCV003030764
RCV003014521
RCV003020212
RCV003026334
RCV003047951
RCV000211636
RCV005036824
RCV005220721
RCV003779114
RCV003779115
RCV003779116
RCV003779117
RCV003785566
RCV003787808
RCV003788236
RCV003796205
RCV003806409
RCV003791562
RCV003803715
RCV003801605
RCV003804188
RCV003800570
RCV003803354
RCV003809134
RCV003794884
RCV003800523
RCV003818025
RCV003810023
RCV003807328
RCV003812585
RCV003812968
RCV000409043
RCV000410879
RCV000411549
RCV000411597
RCV000410244
RCV000411159
RCV000410512
RCV000410335
RCV000411690
RCV000412037
RCV000409603
RCV000409259
RCV000410215
RCV000409624
RCV000412349
RCV000412144
RCV000409656
RCV000410934
RCV000410080
RCV000409121
RCV001857164
RCV000809074
RCV001215180
RCV001855528
RCV003767990
RCV001382581
RCV001855439
RCV001855612
RCV001861770
RCV002532114
RCV003768001
RCV001388087
RCV002531294
RCV000813006
RCV000811272
RCV001388086
RCV000412478
RCV000641291
RCV000411069
RCV005042152
RCV001853039
RCV002496723
RCV002514249
RCV003764720
RCV001050109
RCV001036925
RCV001062264
RCV001043459
RCV001390701
RCV001223969
RCV001204217
RCV001212481
RCV001238172
RCV001234308
RCV001236938
RCV001247326
RCV001242692
RCV003770313
Connective tissue disorder Likely pathogenic; Pathogenic rs2113698812, rs386833498, rs104893915, rs104893924 RCV002278801
RCV002276529
RCV002276530
RCV002276531
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Achondrogenesis Uncertain significance; Benign; Likely benign rs886060233, rs886060246, rs886060247, rs397883627, rs148778566, rs547302746, rs368872246 RCV000399681
RCV000284627
RCV000401674
RCV000336205
RCV000299113
RCV000386987
RCV000351279
RCV000272293
RCV000342900
Atelosteogenesis Uncertain significance; Benign; Likely benign rs886060233, rs886060246, rs886060247, rs397883627, rs148778566, rs547302746, rs368872246 RCV000400381
RCV000281432
RCV000341851
RCV000401831
RCV000268575
RCV000369587
RCV000293994
RCV000383113
RCV000395454
Ovarian serous cystadenocarcinoma Conflicting classifications of pathogenicity rs191884433 RCV005898947
Associations from Text MiningDisease associations identified through Pubtator
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