1. Gene
  2. SLC35A2 - solute carrier family 35 member A2 Gene

SLC35A2 - solute carrier family 35 member A2 Gene

Homo sapiens

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

Gene ID: 7355 | Gene type: protein coding

About SLC35A2

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:48,903,183-48,911,958 (from NCBI)

This gene has 18 transcripts (splice variants), 186 orthologues, 4 paralogues and is associated with 4 phenotypes. Ubiquitous expression in colon (RPKM 9.3), stomach (RPKM 6.6) and 25 other tissues.

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. [provided by RefSeq, Oct 2014]

SLC35A2 Products(8)

mRNA Protein Name
NM_001032289.3 NP_001027460.1 UDP-galactose translocator isoform b
NM_001042498.3 NP_001035963.1 UDP-galactose translocator isoform c
NM_001282647.2 NP_001269576.1 UDP-galactose translocator isoform d
NM_001282648.2 NP_001269577.1 UDP-galactose translocator isoform e
NM_001282649.2 NP_001269578.1 UDP-galactose translocator isoform f
NM_001282650.2 NP_001269579.1 UDP-galactose translocator isoform g
NM_001282651.2 NP_001269580.1 UDP-galactose translocator isoform h
NM_005660.3 NP_005651.1 UDP-galactose translocator isoform a

SLC35A2 Protein Structure

Nuc_sug_transp

Nuc_sug_transp: Nucleotide-sugar transporter (99 - 331)

  • 0
  • 100
  • 200
  • 300
  • 396 a.a.
Protein Preferred Names Protein Names

UDP-galactose translocator

solute carrier family 35 (UDP-galactose transporter), member 2

Related Diseases

Diseases Alias
Congenital Disorder Of Glycosylation, Type Iim

CDG2M

Congenital Disorder Of Glycosylation Type Iim

Slc35a2-Cdg

Epileptic Encephalopathy, Early Infantile, 22

Cdg-Iim

Cdg Iim

Cdgiim

Developmental And Epileptic Encephalopathy 22

Eiee22

Congenital Disorder Of Glycosylation Type 2m

Cdg Syndrome Type Iim

Dee22

Slc35a2-Congenital Disorder Of Glycosylation

Epileptic Encephalopathy, Early Infantile, 22

Eiee22

Congenital Disorder Of Glycosylation 2m

Congenital Disorder Of Glycosylation X-Linked

Glycosylation, Congenital Disorder Of, Type Iim

Isolated Focal Cortical Dysplasia Type Ia

Fcd Type Ia

Hepatitis D

Delta Hepatitis

Hepatitis Delta

Hdv

Hepatitis D Virus

Hepatitis D Infection

Epilepsy, Idiopathic Generalized 10

EIG10

Epilepsy, Idiopathic Generalized, Susceptibility To, 10

Generalized Epilepsy With Febrile Seizures Plus, Type 5

Epilepsy, Juvenile Myoclonic, Susceptibility To

Epilepsy, Idiopathic Generalized, 10

Idiopathic Generalized Epilepsy 10

Epilepsy, Juvenile Myoclonic 7

Generalized Epilepsy With Febrile Seizures Plus Type 5

Generalized Epilepsy With Febrile Seizures Plus, Type 5, Susceptibility To

Epilepsy, Juvenile Myoclonic

Susceptibility To Idiopathic Generalized Epilepsy 10

Generalized Epilepsy With Febrile Seizures Plus 5

GEFS+5

Gefs+ Type 5

Gefsp5

Juvenile Myoclonic Epilepsy 7

EJM7

Susceptibility To Juvenile Myoclonic Epilepsy 7

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 10

Myoclonic Epilepsy, Juvenile

Congenital Disorder Of Glycosylation, Type Iin

CDG2N

Slc39a8-Cdg

Cdg Iin

Congenital Disorder Of Glycosylation Type Iin

Cdgiin

Carbohydrate Deficient Glycoprotein Syndrome Type Iin

Cdg Syndrome Type Iin

Congenital Disorder Of Glycosylation Type 2n

Cdg-Iin

Cdgiidn

Slc39a8 Deficiency

Congenital Disorder Of Glycosylation 2n

Glycosylation, Congenital Disorder Of, Type Iin

Immunodeficiency 47

Congenital Disorder Of Glycosylation Type Ii

CDG2E

Congenital Disorder Of Glycosylation Type Iie

IMD47

Cdg2s

Cdg Iis

Cdgiis

Immunodeficiency And Hepatopathy With Or Without Neurologic Features

Congenital Disorder Of Glycosylation, Type Ii

CDG1I

Congenital Disorder Of Glycosylation, Type Iie

Cdg Iie

Congenital Disorder Of Glycosylation Type 2e

Congenital Disorder Of Glycosylation, Type Iis

Cdg Ii

Cdgii

Cdgiie

Carbohydrate Deficient Glycoprotein Syndrome Type Iie

Cdg Syndrome Type Iie

Congenital Disorder Of Glycosylation Ii

Congenital Disorder Of Glycosylation 1i

Cdg-Iie

Alg2-Cdg

Cdg-Ii

Glycosylation, Congenital Disorder Of, Type Ii

Cdgiide

Congenital Disorder Of Glycosylation Type Iis

Cog7-Cdg

Cdg Syndrome Type Ii

Carbohydrate Deficient Glycoprotein Syndrome Type Ii

Congenital Disorder Of Glycosylation Type 1i

Mannosyltransferase 2 Deficiency

Congenital Disorder Of Glycosylation 2e

Congenital Disorder Of Glycosylation 2s

Congenital Disorders Of Glycosylation Type Ii

Glycosylation, Congenital Disorder Of, Type Iie

Immunodeficiency, Type 47

Congenital Disorder Of Glycosylation Type 2a

Congenital Disorder Of Glycosylation, Type Iik

CDG2K

Congenital Disorder Of Glycosylation Type Iik

Cdg Iik

Cdgiik

Carbohydrate Deficient Glycoprotein Syndrome Type Iik

Cdg Syndrome Type Iik

Congenital Disorder Of Glycosylation Type 2k

Tmem165-Cdg

Cdg-Iik

Cdgiidk

Congenital Disorder Of Glycosylation 2k

Glycosylation, Congenital Disorder Of, Type Iik

Urogenital Tuberculosis

Tuberculosis, Urogenital

Genitourinary Tuberculosis

Epilepsy, Idiopathic Generalized 11

Epilepsy, Idiopathic Generalized, Susceptibility To, 11

EIG11

Epilepsy, Juvenile Absence 2

Epilepsy, Juvenile Myoclonic 8

Idiopathic Generalized Epilepsy 11

Epilepsy, Juvenile Absence, Susceptibility To, 2

Epilepsy, Juvenile Myoclonic, Susceptibility To, 8

Susceptibility To Idiopathic Generalized Epilepsy 11

Juvenile Absence Epilepsy 2

JAE2

Eja2

Susceptibility To Juvenile Absence Epilepsy 2

Juvenile Myoclonic Epilepsy 8

EJM8

Susceptibility To Juvenile Myoclonic Epilepsy 8

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 11

Bladder Tuberculosis

Tuberculous Cystitis

Tuberculosis Of Bladder

Kernicterus

Bilirubin Encephalopathy

Hyperbilirubinemic Encephalopathy

Kernicterus Spectrum Disorder

Crigler-Najjar Syndrome, Type I

Crigler-Najjar Syndrome

Crigler-Najjar Syndrome Type 1

Bilirubin Udp Glucuronyl Transferase Deficiency

Crigler Najjar Syndrome

Crigler Najjar Syndrome, Type 1

Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency

Bilirubin-Ugt Deficiency

Hyperbilirubinemia, Crigler-Najjar Type I

Hblrcn1

Familial Nonhemolytic Unconjugated Hyperbilirubinemia

Hereditary Unconjugated Hyperbilirubinemia

Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1

Bilirubin-Ugt Deficiency Type 1

Crigler-Najjar Syndrome 1

CN1

Cn-I

Crigler-Najjar Syndrome Type I

Hereditary Unconjugated Hyperbilirubinaemia

Ugt Deficiency

Bilirubin Glucuronosyltransferase Deficiency

Crigler-Najjar Disease Or Syndrome

Deficiency Of Glucuronosyltransferase

Glucuronyl Transferase Deficiency

Glucuronyltransferase Deficiency

Udp Glucuronyl Transferase Deficiency

Cns - [Crigler-Najjar Syndrome]

Congenital Familial Nonhemolytic Jaundice

Gilbert Syndrome

Gilbert Disease

Gilbert'S Disease

Gilbert'S Syndrome

Cholemia, Familial

Familial Nonhemolytic Jaundice

Meulengracht Syndrome

Gilbert Syndrome, Susceptibility To

Hyperbilirubinemia, Gilbert Type

Hblrg

Hyperbilirubinemia, Arias Type

Hyperbilirubinemia I

Constitutional Hyperbilirubinemia

Gilbert-Meulengracht Syndrome

Hereditary Nonhemolytic Jaundice

Hyperbilirubinemia Arias Type

Hyperbilirubinemia Type 1

Constitutional Liver Dysfunction

Gilbert-Lereboullet Syndrome

Hyperbilirubinemia 1

Unconjugated Benign Bilirubinemia

GILBS

Gilberts Syndrome

Familial Nonhaemolytic Jaundice

Constitutional Hyperbilirubinaemia

Hereditary Nonhaemolytic Bilirubinaemia

Familial Nonhaemolytic Bilirubinaemia

Idiopathic Hyperbilirubinaemia

Icterus Intermittens Juvenilis

Chronic Intermittent Juvenile Jaundice

Low-Grade Chronic Hyperbilirubinaemia Syndrome

Benign Unconjugated Bilirubinaemia Syndrome

Hereditary Nonhaemolytic Jaundice

Idiopathic Unconjugated Hyperbilirubinaemia

Gilbert--Lereboullet Syndrome

Constitutional Hepatic Dysfunction

Meulengracht Icterus

Cholaemia Familiaris Simplex

Familial Cholaemia

Congenital Familial Cholaemia

Physiologic Cholaemia

Hyperbilirubinaemia Type 1

Gilbert Cholaemia

Charcot-Marie-Tooth Disease, Axonal, Type 2dd

CMT2DD

Charcot-Marie-Tooth Neuropathy, Type 2dd

Charcot-Marie-Tooth Disease Type 2dd

Atp1a1-Related Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Atp1a1-Related Cmt2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2dd

Charcot-Marie-Tooth Disease 2dd

Congenital Disorder Of Glycosylation, Type Iif

CDG2F

Congenital Disorder Of Glycosylation Type Iif

Cdg Iif

Cdgiif

Carbohydrate Deficient Glycoprotein Syndrome Type Iif

Cmp-Sialic Acid Transporter Deficiency

Slc35a1-Cdg

Cdg-Iif

Cdgiidf

Cdg Syndrome Type Iif

Congenital Disorder Of Glycosylation Type 2f

Congenital Disorder Of Glycosylation 2f

Glycosylation, Congenital Disorder Of, Type Iif

Bilirubin Metabolic Disorder

Hyperbilirubinemia

Hereditary Hyperbilirubinemia

Hyperbilirubinemia, Hereditary

Hyperbilirubinaemia

Neonatal Abstinence Syndrome

Drug Withdrawal Syndrome In Newborn

Schneckenbecken Dysplasia

SHNKND

Chondrodysplasia, Lethal Neonatal, With Snail-Like Pelvis

Chondrodysplasia Lethal Neonatal With Snail Like Pelvis

Chondrodysplasia With Snail-Like Pelvis

Slc35d1-Cdg

Dysplasia, Schneckenbecken

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation

CDG1N

Congenital Disorders Of Glycosylation

Cdg In

Cdgin

Congenital Disorder Of Glycosylation 1n

Carbohydrate-Deficient Glycoprotein Syndrome

Cdg

Rft1-Cdg

Cdg-In

Congenital Disorder Of Glycosylation Type In

Carbohydrate Deficient Glycoprotein Syndrome

Cdg Syndrome

Congenital Disorder Of Glycosylation In

Carbohydrate-Deficient Glycoprotein Syndromes

Cdg Syndrome Type In

Carbohydrate Deficient Glycoprotein Syndrome Type In

Congenital Disorder Of Glycosylation Type 1n

Man5glcnac2-Pp-Dol Flippase Deficiency

Glycosylation, Congenital Disorder Of

Glycosylation, Congenital Disorder Of, Type In

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus SLC35A2 MGD MGI:1345297
Rattus norvegicus SLC35A2 RGD RGD:2293497
Bos taurus SLC35A2 VGNC VGNC:34820
Canis familiaris SLC35A2 VGNC VGNC:46361
Felis catus SLC35A2 VGNC VGNC:65320
Macaca mulatta SLC35A2 VGNC VGNC:77460
Others SLC35A2 NCBI