SLC35A2 Gene Summary [Human]

This gene encodes a member of the nucleotide-sugar transporter family. The encoded protein is a multi-pass membrane protein. It transports UDP-galactose from the cytosol into Golgi vesicles, where it serves as a glycosyl donor for the generation of glycans. Mutations in this gene cause congenital disorder of glycosylation type IIm (CDG2M). Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2014]

Details

Type
Nonsense Mediated Decay
Official Symbol
SLC35A2
Official Name
solute carrier family 35 member A2 [Source:HGNC Symbol;Acc:HGNC:11022]
Ensembl ID
ENSG00000102100
Bio databases IDs NCBI: 7355 Ensembl: ENSG00000102100
Aliases solute carrier family 35 member A2
Synonyms CDG2M, CDGX, Had-1, Sfc8, solute carrier family 35 member A2, Solute carrier family 35 (UDP-galactose transporter), member 2, solute carrier family 35 (UDP-galactose transporter), member A2, UDP-Gal-Tr, UGALT, UGAT, UGT, UGT1, UGT2, UGTL
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SLC35A2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • UDP-galactose transporter
  • nucleotide-sugar transporter
  • EamA-like transporter family
  • enzyme
  • protein binding

Pathways

Biological processes and signaling networks where the SLC35A2 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • nonlesional localization related epilepsy
  • congenital disorder of glycosylation type 2m
  • congenital disorders of glycosylation
  • epilepsy
  • intoxication
  • X-linked complex neurodevelopmental disorder
  • hereditary disorder
  • focal cortical dysplasia type I
  • infection by HIV-1
  • infection by Enterovirus D68
regulated by
  • lipopolysaccharide
  • Immunoglobulin
  • PML
  • NFE2L2
  • FTO
  • tunicamycin
  • AHR/ARNT/aryl hydrocarbon
  • oltipraz
  • CAR/RXRα/CAR ligand/retinoic acid
  • EIF2AK3
regulates
  • bilirubin
  • SELE
  • UDP-D-galactose
  • UMP
  • CMP-sialic acid
  • Myelin
  • 1-naphthol
  • AMP
  • UDP-N-acetyl-D-galactosamine
  • galactosylceramide
role in cell
  • binding
  • phagocytosis
  • phagocytosis by
  • dipeptide repeat protein sensitivity

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cellular membrane
  • Golgi Apparatus
  • Endoplasmic Reticulum
  • Golgi membrane
  • nucleoplasm

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SLC35A2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • UDP-galactose transmembrane transport
  • galactose metabolic process

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • endoplasmic reticulum
  • Golgi membrane
  • Golgi apparatus
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • UDP-galactose transmembrane transporter activity
  • protein binding
  • antiporter activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.