SLC26A2
entrez
1836
canonical
uniprot
P50443
canonical
ensembl
ENSG00000155850
resolver
ensp
ENSP00000286298
resolver
ensp
ENSP00000532140
resolver
ensp
ENSP00000532141
resolver
ensp
ENSP00000532142
resolver
ensp
ENSP00000532143
resolver
ensp
ENSP00000532144
resolver
ensp
ENSP00000532145
resolver
ensp
ENSP00000532146
resolver
enst
ENST00000286298
resolver
enst
ENST00000862081
resolver
enst
ENST00000862082
resolver
enst
ENST00000862083
resolver
enst
ENST00000862084
resolver
enst
ENST00000862085
resolver
enst
ENST00000862086
resolver
enst
ENST00000862087
resolver
genesymbol
SLC26A2
resolver
genesymbol_syn
DTD
resolver
genesymbol_syn
DTDST
resolver
hgnc
HGNC:10994
resolver
uniprot
A8K2U3
resolver
uniprot
B2R6J1
resolver
uniprot
Q6N051
resolver
uniprot_entry
S26A2_HUMAN
resolver
uniprot_sec
A8K2U3
resolver
uniprot_sec
B2R6J1
resolver
uniprot_sec
Q6N051
resolver
activity_regulation
ACTIVITY REGULATION: An extracellular acidic pH inhibits chloride-sulfate and chloride-oxalate exchange activity whereas an intracellular acidic pH activates chloride-sulfate exchange with no effect on chloride-oxalate exchange activity. {ECO:0000269|PubMed:20219950}.
uniprot
proteins
amino_acid_sequence
MSSESKEQHNVSPRDSAEGNDSYPSGIHLELQRESSTDFKQFETNDQCRPYHRILIERQEKSDTNFKEFVIKKLQKNCQCSPAKAKNMILGFLPVLQWLPKYDLKKNILGDVMSGLIVGILLVPQSIAYSLLAGQEPVYGLYTSFFASIIYFLLGTSRHISVGIFGVLCLMIGETVDRELQKAGYDNAHSAPSLGMVSNGSTLLNHTSDRICDKSCYAIMVGSTVTFIAGVYQVAMGFFQVGFVSVYLSDALLSGFVTGASFTILTSQAKYLLGLNLPRTNGVGSLITTWIHVFRNIHKTNLCDLITSLLCLLVLLPTKELNEHFKSKLKAPIPIELVVVVAATLASHFGKLHENYNSSIAGHIPTGFMPPKVPEWNLIPSVAVDAIAISIIGFAITVSLSEMFAKKHGYTVKANQEMYAIGFCNIIPSFFHCFTTSAALAKTLVKESTGCHTQLSGVVTALVLLLVLLVIAPLFYSLQKSVLGVITIVNLRGALRKFRDLPKMWSISRMDTVIWFVTMLSSALLSTEIGLLVGVCFSIFCVILRTQKPKSSLLGLVEESEVFESVSAYKNLQIKPGIKIFRFVAPLYYINKECFKSALYKQTVNPILIKVAWKKAAKRKIKEKVVTLGGIQDEMSVQLSHDPLELHTIVIDCSAIQFLDTAGIHTLKEVRRDYEAIGIQVLLAQCNPTVRDSLTNGEYCKKEEENLLFYSVYEAMAFAEVSKNQKGVCVPNGLSLSSD
uniprot
proteins
disease_involvement
DISEASE: Diastrophic dysplasia (DTD) [MIM:222600]: An autosomal recessive disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities. {ECO:0000269|PubMed:10466420, ECO:0000269|PubMed:11448940, ECO:0000269|PubMed:15294877}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Achondrogenesis 1B (ACG1B) [MIM:600972]: A form of achondrogenesis type 1, a lethal form of chondrodysplasia characterized by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. ACG1B is an autosomal recessive disease. {ECO:0000269|PubMed:11448940, ECO:0000269|PubMed:15294877, ECO:0000269|PubMed:8528239}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Atelosteogenesis 2 (AO2) [MIM:256050]: A perinatal dysplasia characterized by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Patients are stillborn or die soon after birth. {ECO:0000269|PubMed:11448940, ECO:0000269|PubMed:8571951}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Multiple epiphyseal dysplasia 4 (EDM4) [MIM:226900]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. Multiple epiphyseal dysplasia type 4 is a recessively inherited form, characterized by early childhood-onset hip dysplasia and recurrent patella dislocation. Short stature is not frequent. {ECO:0000269|PubMed:11448940, ECO:0000269|PubMed:12966518, ECO:0000269|PubMed:15294877, ECO:0000269|PubMed:20219950, ECO:0000269|PubMed:21922596}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 electroneutral anion exchange of sulfate ions for oxalate ions and of sulfate and oxalate ions for chloride ions (PubMed:20219950). Mediates exchange of sulfate and oxalate ions for hydroxyl ions and of chloride ions for bromide, iodide and nitrate ions (By similarity). The coupling of sulfate transport to both hydroxyl and chloride ions likely serves to ensure transport at both acidic pH when most sulfate uptake is mediated by sulfate-hydroxide exchange and alkaline pH when most sulfate uptake is mediated by sulfate-chloride exchange (By similarity). Essential for chondrocyte proliferation, differentiation and cell size expansion (By similarity). {ECO:0000250|UniProtKB:Q62273, ECO:0000269|PubMed:11448940, ECO:0000269|PubMed:15294877, ECO:0000269|PubMed:20219950, ECO:0000269|PubMed:7923357}.
uniprot
proteins
mass_dalton
81662
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:15294877}.
uniprot
proteins
protein_family
SLC26A/SulP transporter (TC 2.A.53) family
uniprot
proteins
pubmed
10466420
uniprot
proteins
pubmed
11448940
uniprot
proteins
pubmed
12966518
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15294877
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20219950
uniprot
proteins
pubmed
21922596
uniprot
proteins
pubmed
7923357
uniprot
proteins
pubmed
8528239
uniprot
proteins
pubmed
8571951
uniprot
proteins
sequence_length
739
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15294877, ECO:0000269|PubMed:7923357}; Multi-pass membrane protein {ECO:0000255}. Apical cell membrane {ECO:0000250|UniProtKB:O70531}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 112..132; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 137..157; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 219..239; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 242..262; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 378..398; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 420..440; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 455..475; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 524..544; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins