SLC35A2 - solute carrier family 35 member A2 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7355

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23089177	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in UDP-galactose transmembrane transport	IMP IMP: Inferred from mutant phenotype	23561849	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	21918738	GOA
located in Golgi membrane	IDA IDA: Inferred from direct assay	28167211	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	21918738	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC35A2 Protein Structure

Nuc_sug_transp

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13196	SLC35A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13199	SLC35B2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13202	SLC35D2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13206	SLC35F2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22040	Slc35b2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28557	Slc35b2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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