InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC26A2

Summary

InnateDB Protein

IDBP-53181.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC26A2

Protein Name

solute carrier family 26 (sulfate transporter), member 2

Synonyms

D5S1708; DTD; DTDST; EDM4; MST153; MSTP157;

Species

Homo sapiens

Ensembl Protein

ENSP00000286298

InnateDB Gene

IDBG-53179 (SLC26A2)

Protein Structure

UniProt Annotation

Function

Sulfate transporter. May play a role in endochondral bone formation.

Subcellular Localization

Membrane; Multi-pass membrane protein.

Disease Associations

Diastrophic 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.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. {ECO:0000269PubMed:8528239}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:8571951}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:12966518, ECO:0000269PubMed:21922596}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008271	secondary active sulfate transmembrane transporter activity
GO:0015116	sulfate transmembrane transporter activity

Biological Process

GO:0001503	ossification
GO:0005975	carbohydrate metabolic process
GO:0006805	xenobiotic metabolic process
GO:0006811	ion transport
GO:0008272	sulfate transport
GO:0030203	glycosaminoglycan metabolic process
GO:0044281	small molecule metabolic process
GO:0050427	3'-phosphoadenosine 5'-phosphosulfate metabolic process
GO:0050428	3'-phosphoadenosine 5'-phosphosulfate biosynthetic process
GO:0055085	transmembrane transport
GO:1902358	sulfate transmembrane transport