MGP Database

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MGP000883

UniProt Annotations

Entry Information
Gene Namesolute carrier family 26 (anion exchanger), member 2
Protein EntryS26A2_HUMAN
UniProt IDP50443
SpeciesHuman
Comments
Comment typeDescription
DiseaseAchondrogenesis 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. {ECO:0000269|PubMed:8528239}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseAtelosteogenesis 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:8571951}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseDiastrophic dysplasia (DTD) [MIM:222600]: An autosomal recessive disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseMultiple 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:12966518, ECO:0000269|PubMed:21922596}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionSulfate transporter. May play a role in endochondral bone formation.
SimilarityBelongs to the SLC26A/SulP transporter (TC 2.A.53) family. {ECO:0000305}.
SimilarityContains 1 STAS domain. {ECO:0000255|PROSITE- ProRule:PRU00198}.
Subcellular LocationMembrane; Multi-pass membrane protein.
Tissue SpecificityUbiquitously expressed.
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