InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC35A2

Summary

InnateDB Protein

IDBP-370941.5

Last Modified

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

Gene Symbol

SLC35A2

Protein Name

solute carrier family 35 (UDP-galactose transporter), member A2

Synonyms

CDG2M; CDGX; UDP-Gal-Tr; UGALT; UGAT; UGT; UGT1; UGT2; UGTL;

Species

Homo sapiens

Ensembl Protein

ENSP00000402726

InnateDB Gene

IDBG-64571 (SLC35A2)

Protein Structure

UniProt Annotation

Function

Transports nucleotide sugars from the cytosol into Golgi vesicles where glycosyltransferases function.

Subcellular Localization

Golgi apparatus membrane; Multi-pass membrane protein.

Disease Associations

Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896]: A disorder characterized by developmental delay, hypotonia, ocular anomalies, and brain malformations. Othere more variable clinical features included seizures, hypsarrhythmia, poor feeding, microcephaly, recurrent infections, dysmorphic features, shortened limbs, and coagulation defects. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins and a wide variety of clinical features. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269PubMed:23561849}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

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	2 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005351	sugar:proton symporter activity
GO:0005515	protein binding

Biological Process

GO:0006012	galactose metabolic process
GO:0008643	carbohydrate transport
GO:0015785	UDP-galactose transport
GO:0015992	proton transport
GO:0055085	transmembrane transport