Gene: SLC35A2
Alternate names for this Gene: CDG2M|CDGX|UDP-Gal-Tr|UGALT|UGAT|UGT|UGT1|UGT2|UGTL
Gene Summary: 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.
Gene is located in Chromosome: X
Location in Chromosome : Xp11.23
Description of this Gene: solute carrier family 35 member A2
Type of Gene: protein-coding
rs1557043622 in
SLC35A2 gene and
Acid reflux
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Anteriorly placed anus
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Blue sclera
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Byzanthine arch palate
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Cerebellar vermis atrophy
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Cerebral white matter atrophy
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Congenital overgrowth of lower limb
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Constipation
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Cortical visual impairment
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Decreased CSF homovanillic acid
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Decreased peristalsis
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557042808 in
SLC35A2 gene and
Dysmorphic features
PMID 25778940 2015 A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.
PMID 25877686 2015 Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.
PMID 24115232 2013 De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.
PMID 25262651 2014 De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
PMID 8889805 1996 Human UDP-galactose translocator: molecular cloning of a complementary DNA that complements the genetic defect of a mutant cell line deficient in UDP-galactose translocator.
PMID 26740508 2016 Identification of novel genetic causes of Rett syndrome-like phenotypes.
PMID 23561849 2013 Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
PMID 9010752 1996 Molecular cloning and characterization of a novel isoform of the human UDP-galactose transporter, and of related complementary DNAs belonging to the nucleotide-sugar transporter gene family.
PMID 26350515 2016 Novel genetic causes for cerebral visual impairment.
rs1557043622 in
SLC35A2 gene and
Esotropia
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Gastrointestinal dysmotility
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Global developmental delay
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Hematocrit increased
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Hyperopia
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Hypoalbuminemia
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Hypoglycemia
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Hypsarrhythmia
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Inappropriate crying
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Increased IgM level
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Increased serum testosterone level
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Infantile Spasm
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Low alkaline phosphatase
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Low posterior hairline
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Lymphocyte count abnormal
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
MCV - raised
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Monocytosis
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Muscle hypotonia
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Narrow forehead
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Neutrophil count abnormal
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Neutrophil count decreased
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Osteopenia
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Pediatric failure to thrive
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Premature adrenarche
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Pyloric Stenosis
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Retinal pigment epithelial mottling
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Salaam Seizures
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Serum creatinine low
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Short stature
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Sleep Apnea, Central
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Sleep Apnea, Obstructive
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Sleep disturbances
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Solute carrier family 35 member A2 congenital disorder of glycosylation
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
PMID 23561849 2013 Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
PMID 24115232 2013 De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.
rs1557043622 in
SLC35A2 gene and
Strabismus
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1557043622 in
SLC35A2 gene and
Weight less than 3rd percentile
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.