SLC26A2
Protein name:
DTDST, SLC26A2
Aliases:
N/D
Substrates:
SO42-, oxalate, Cl-
Transport type:
Exchanger / SO42-, oxalate, Cl-
Tissue and cellular expression:
chondrocytes, renal prox tubule, intestine, panc duct
Subcellular expression:
apical
Disease:
diastrophic dysplasia, broad bone-, platyspondylic variant, atelosteogenesis II, achondrogenesis IB, multiple epiphyseal, dysplasia type 4, De la Chapelle dysplasia
Locus:
5q32
Sequence ID:
NP_000103.2,
NM_000112.3
Gene ID:
1836
Splice variants:
1 mRNA, 1 ORF
S26A2_HUMAN (UniProt)
Gene names:
SLC26A2, DTD, DTDST
Protein names and data:
S26A2_HUMAN, Full=Sulfate transporter, Full=Diastrophic dysplasia protein;Full=Solute carrier family 26 member 2;
Length: 739 a.a., Mass: 81662 Da,
fasta formatted sequence
Function:
Sulfate transporter. May play a role in endochondral bone formation
Disease:
(OMIM:
222600 226900 256050 600972 606718)
Defects in SLC26A2 are the cause of diastrophic dysplasia (DTD) [MIM:222600]. DTD is an autosomal recessive disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities; Defects in SLC26A2 are the cause of achondrogenesis type 1B (ACG1B) [MIM:600972]. ACG1B is a recessively inherited chondrodysplasia characterized by extremely poor skeletal development and perinatal death; Defects in SLC26A2 are the cause of atelosteogenesis type 2 (AO2) [MIM:256050]; also known as neonatal osseous dysplasia 1. AO2 is characterized by severely shortened limbs, small chest, scoliosis, club foot of the equinovarus type (talipes equinovarus), abducted thumbs and great toes, and cleft palate. Patients die of respiratory insufficiency shortly after birth because of the collapse of the airways and pulmonary hypoplasia due to the small rib cage; Defects in SLC26A2 are the cause of multiple epiphyseal dysplasia type 4 (EDM4) [MIM:226900]. EDM is a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and the milder Ribbing types. EDM4 is a recessively inherited form, characterized by early childhood-onset hip dysplasia and recurrent patella dislocation. Short stature in EDM4 patients is not frequent
Cellular location:
Membrane; Multi-pass membrane protein
Tissue specificity:
Ubiquitously expressed
Database cross-references
UniProt:
P50443
NextBio:
7495
OMIM:
222600
226900
256050
600972
606718
Ensembl:
ENST00000286298
GeneCard:
GC05P149944
TCDB:
2.A.53.2.1
PharmGenUCSF:
SLC26A2
Guide to Pharmacology:
SLC26A2 (1098)
Selective sulphate transporters (1098)
HGNC:
HGNC:10994
Genetic variants
See also Ensembl:ENST00000286298
255 - 255
G -> E (in AO2). VAR_007434
256 - 256
F -> S (in EDM4). VAR_066835
279 - 279
R -> W (in AO2 and EDM4). VAR_007435
340 - 340
Missing (in ACG1B). VAR_007436
425 - 425
N -> D (in ACG1B). VAR_007437
454 - 454
Q -> P (in diatrophic dysplasia; broad bone-platyspondylic variant). VAR_018654
574 - 574
I -> T (in dbSNP:rs30832). VAR_058415
30832
653 - 653
C -> S (in EDM4). VAR_018655
678 - 678
G -> V (in ACG1B). VAR_007438
689 - 689
T -> S (in dbSNP:rs3776070). VAR_020402
3776070
715 - 715
A -> V (in AO2 and EDM4). VAR_007439