UDP-galactose translocator

UDP-galactose translocator is a protein that in humans is encoded by the SLC35A2 gene.^[5][6]

AliasesSLC35A2, CDG2M, CDGX, UDP-Gal-Tr, UGALT, UGAT, UGT, UGT1, UGT2, UGTL, solute carrier family 35 member A2

External IDsOMIM: 314375; MGI: 1345297; HomoloGene: 136614; GeneCards: SLC35A2; OMA:SLC35A2 - orthologs

Chr.X chromosome (human)^[1]

End48,911,958 bp^[1]

Quick facts SLC35A2, Identifiers ...

SLC35A2
Identifiers
Aliases	SLC35A2, CDG2M, CDGX, UDP-Gal-Tr, UGALT, UGAT, UGT, UGT1, UGT2, UGTL, solute carrier family 35 member A2
External IDs	OMIM: 314375; MGI: 1345297; HomoloGene: 136614; GeneCards: SLC35A2; OMA:SLC35A2 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp11.23 Start 48,903,180 bp[1] End 48,911,958 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A1.1|X 3.56 cM Start 7,750,267 bp[2] End 7,760,731 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte bronchial epithelial cell palpebral conjunctiva stromal cell of endometrium mucosa of transverse colon olfactory zone of nasal mucosa mucosa of sigmoid colon rectum epithelium of nasopharynx right uterine tube Top expressed in left colon Paneth cell cumulus cell ascending aorta aortic valve crypt of lieberkuhn of small intestine motor neuron lobe of prostate seminal vesicula lacrimal gland More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding UDP-galactose transmembrane transporter activity pyrimidine nucleotide-sugar transmembrane transporter activity Cellular component integral component of membrane Golgi membrane Golgi apparatus endoplasmic reticulum nucleus membrane integral component of Golgi membrane Biological process galactose metabolic process carbohydrate transport UDP-galactose transmembrane transport pyrimidine nucleotide-sugar transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7355 22232 Ensembl ENSG00000102100 ENSMUSG00000031156 UniProt P78381 Q9R0M8 RefSeq (mRNA) NM_005660 NM_001032289 NM_001042498 NM_001282647 NM_001282648 NM_001282649 NM_001282650 NM_001282651 NM_001083937 NM_078484 RefSeq (protein) NP_001027460 NP_001035963 NP_001269576 NP_001269577 NP_001269578 NP_001269579 NP_001269580 NP_005651 NP_001077406 NP_511039 Location (UCSC) Chr X: 48.9 – 48.91 Mb Chr X: 7.75 – 7.76 Mb PubMed search [3] [4]
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Somatic loss-of-function variants in the SLC35A2 gene were originally associated with focal epilepsy with radiographically nonlesional epilepsy.^[7] Later it was discovered that individuals with somatic variants in SLC35A2 have a mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE), which is a subtype of frontal lobe epilepsy.^[8]