SLC35A2

Protein identityUniProt · HPA

UniProt accession

P78381

Gene

SLC35A2

Ensembl

ENSG00000102100

Chromosome

X

Canonical length

396 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

Subcellular location

Golgi apparatus

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

396 residues, UniProt reviewed canonical sequence.

>P78381|SLC35A2
     1  MAAVGAGGST AAPGPGAVSA GALEPGTASA AHRRLKYISL AVLVVQNASL ILSIRYARTL
    61  PGDRFFATTA VVMAEVLKGL TCLLLLFAQK RGNVKHLVLF LHEAVLVQYV DTLKLAVPSL
   121  IYTLQNNLQY VAISNLPAAT FQVTYQLKIL TTALFSVLML NRSLSRLQWA SLLLLFTGVA
   181  IVQAQQAGGG GPRPLDQNPG AGLAAVVASC LSSGFAGVYF EKILKGSSGS VWLRNLQLGL
   241  FGTALGLVGL WWAEGTAVAT RGFFFGYTPA VWGVVLNQAF GGLLVAVVVK YADNILKGFA
   301  TSLSIVLSTV ASIRLFGFHV DPLFALGAGL VIGAVYLYSL PRGAAKAIAS ASASASGPCV
   361  HQQPPGQPPP PQLSSHRGDL ITEPFLPKLL TKVKGS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC35A2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

10

Mean surface accessibility (rSASA)

0.35

Highest tissue expression

31 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC35A2.

Disease | AllUniProt

Conditions SLC35A2 is implicated in, by any mechanism.

• Congenital disorder of glycosylation 2M (CDG2M) MIM:300896

Disease | GeneticClinVar

56 pathogenic / likely-pathogenic of 383 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• SLC35A2-congenital disorder of glycosylation
• non-lesional focal epilepsy
• Epileptic encephalopathy
• Inborn genetic diseases
• Congenital disorder of glycosylation

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.56

gnomAD pLI

0.72

gnomAD missense Z

2.5

DepMap mean gene effect

-0.15

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• galactose metabolic process
• UDP-galactose transmembrane transport

Molecular functions

• antiporter activity
• UDP-galactose transmembrane transporter activity

Cellular components

• endoplasmic reticulum
• endoplasmic reticulum membrane
• Golgi apparatus
• Golgi membrane
• nucleoplasm

Protein domainsUniProt · Pfam · InterPro

• Nucleotide-sugar transporter
• Multidrug transporter EmrE superfamily
• Nucleotide-sugar transporter

KeywordsUniProt

• Antiport
• Congenital disorder of glycosylation
• Endoplasmic reticulum
• Epilepsy
• Golgi apparatus
• Membrane
• Sugar transport
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of SLC35A2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• B4GALT4
• SLC35A3