SLC35A2 (solute carrier family 35 member A2)

2014-11-01  

Identity

HGNC
SLC35A2
LOCATION
Xp11.23
LOCUSID
7355
ALIAS
CDG2M,CDGX,UDP-Gal-Tr,UGALT,UGAT,UGT,UGT1,UGT2,UGTL
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7355
MIM: 314375
HGNC: 11022
Ensembl: ENSG00000102100

Variants:

dbSNP: 7355
ClinVar: 7355
TCGA: ENSG00000102100
COSMIC: SLC35A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102100ENST00000247138P78381
ENSG00000102100ENST00000376512A6NGW4
ENSG00000102100ENST00000376515A6NKM8
ENSG00000102100ENST00000376521P78381
ENSG00000102100ENST00000376529A6NFI1
ENSG00000102100ENST00000413561A0A0X1KG77
ENSG00000102100ENST00000445167P78381
ENSG00000102100ENST00000446885C9JCV5
ENSG00000102100ENST00000452555P78381
ENSG00000102100ENST00000616181B4DE15
ENSG00000102100ENST00000634461A0A0U1RRB4
ENSG00000102100ENST00000634665A0A0U1RR61
ENSG00000102100ENST00000635015B4DSH7
ENSG00000102100ENST00000635238A0A0U1RRG4
ENSG00000102100ENST00000635285P78381
ENSG00000102100ENST00000635460A0A0U1RR48
ENSG00000102100ENST00000635589P78381
ENSG00000102100ENST00000635628A0A0U1RRN1

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of vitamins, nucleosides, and related moleculesREACTOMER-HSA-425397
Transport of nucleotide sugarsREACTOMER-HSA-727802

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
235618492013Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.38
241152322013De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.27
296793882018Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.16
259449012015UDP-galactose (SLC35A2) and UDP-N-acetylglucosamine (SLC35A3) Transporters Form Glycosylation-related Complexes with Mannoside Acetylglucosaminyltransferases (Mgats).11
219187382011Subcellular localization of UDP-GlcNAc, UDP-Gal and SLC35B4 transporters.7
308178542019SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.6
235834052013UDP-Gal/UDP-GlcNAc chimeric transporter complements mutation defect in mammalian cells deficient in UDP-Gal transporter.5
254512672014Short N-terminal region of UDP-galactose transporter (SLC35A2) is crucial for galactosylation of N-glycans.5
299070922018Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report.5
307467642019Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.5

Citation

Dessen P

SLC35A2 (solute carrier family 35 member A2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73398/slc35a2