SLC35A2

Chr X

solute carrier family 35 member A2

Also known as: CDG2M, CDGX, UDP-Gal-Tr, UGALT, UGAT, UGT, UGT1, UGT2

NCBI Gene: 7355 ENSG00000102100 UniProt: P78381

The protein transports UDP-galactose from the cytosol into Golgi vesicles where it serves as a glycosyl donor for glycan generation. Mutations cause congenital disorder of glycosylation type IIm (CDG2M) with X-linked dominant inheritance, though somatic mosaicism can also occur. The moderate constraint scores suggest mutations can cause disease predominantly through loss-of-function, disrupting normal glycosylation pathways.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCongenital disorder of glycosylation 2M

Clinical highlights

Gene-disease validity (ClinGen)

X-linked complex neurodevelopmental disorder · XLDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.56

LOEUF

LOF

Mechanism· G2P

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