MGAT2

Protein identityUniProt · HPA

UniProt accession

Q10469

Gene

MGAT2

Ensembl

ENSG00000168282

Chromosome

14

Canonical length

447 aa

Protein class

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

Subcellular location

Golgi apparatus

Quaternary structure

Homodimer

OverviewNCBI Gene

The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5' UTR may exist, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

447 residues, UniProt reviewed canonical sequence.

>Q10469|MGAT2
     1  MRFRIYKRKV LILTLVVAAC GFVLWSSNGR QRKNEALAPP LLDAEPARGA GGRGGDHPSV
    61  AVGIRRVSNV SAASLVPAVP QPEADNLTLR YRSLVYQLNF DQTLRNVDKA GTWAPRELVL
   121  VVQVHNRPEY LRLLLDSLRK AQGIDNVLVI FSHDFWSTEI NQLIAGVNFC PVLQVFFPFS
   181  IQLYPNEFPG SDPRDCPRDL PKNAALKLGC INAEYPDSFG HYREAKFSQT KHHWWWKLHF
   241  VWERVKILRD YAGLILFLEE DHYLAPDFYH VFKKMWKLKQ QECPECDVLS LGTYSASRSF
   301  YGMADKVDVK TWKSTEHNMG LALTRNAYQK LIECTDTFCT YDDYNWDWTL QYLTVSCLPK
   361  FWKVLVPQIP RIFHAGDCGM HHKKTCRPST QSAQIESLLN NNKQYMFPET LTISEKFTVV
   421  AISPPRKNGG WGDIRDHELC KSYRRLQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MGAT2 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

1

Mean surface accessibility (rSASA)

0.32

Highest tissue expression

38 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MGAT2.

Disease | AllUniProt

Conditions MGAT2 is implicated in, by any mechanism.

• Congenital disorder of glycosylation 2A (CDG2A) MIM:212066

Disease | GeneticClinVar

14 pathogenic / likely-pathogenic of 173 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• MGAT2-congenital disorder of glycosylation
• Abnormal facial shape
• Abnormal glycosylation
• Global developmental delay
• MGAT2-related disorder

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)

0.72

gnomAD pLI

0.03

gnomAD missense Z

0.52

DepMap mean gene effect

-0.16

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• oligosaccharide biosynthetic process
• protein N-linked glycosylation
• protein N-linked glycosylation via asparagine
• viral protein processing

Molecular functions

• manganese ion binding
• protein homodimerization activity
• alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity

Cellular components

• Golgi apparatus
• Golgi membrane
• Golgi stack
• membrane

Protein domainsUniProt · Pfam · InterPro

• Nucleotide-diphospho-sugar transferases
• N-acetylglucosaminyltransferase II
• N-acetylglucosaminyltransferase II (MGAT2)

KeywordsUniProt

• Congenital disorder of glycosylation
• Disulfide bond
• Glycoprotein
• Glycosyltransferase
• Golgi apparatus
• Manganese
• Membrane
• Metal-binding
• Signal-anchor
• Transferase
• Transmembrane
• Transmembrane helix