ALG2

Protein identityUniProt · HPA

UniProt accession

Q9H553

Gene

ALG2

Ensembl

ENSG00000119523

Chromosome

9

Canonical length

416 aa

Protein class

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

Subcellular location

Golgi apparatus

OverviewNCBI Gene

This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]

Canonical amino-acid sequenceUniProt

416 residues, UniProt reviewed canonical sequence.

>Q9H553|ALG2
     1  MAEEQGRERD SVPKPSVLFL HPDLGVGGAE RLVLDAALAL QARGCSVKIW TAHYDPGHCF
    61  AESRELPVRC AGDWLPRGLG WGGRGAAVCA YVRMVFLALY VLFLADEEFD VVVCDQVSAC
   121  IPVFRLARRR KKILFYCHFP DLLLTKRDSF LKRLYRAPID WIEEYTTGMA DCILVNSQFT
   181  AAVFKETFKS LSHIDPDVLY PSLNVTSFDS VVPEKLDDLV PKGKKFLLLS INRYERKKNL
   241  TLALEALVQL RGRLTSQDWE RVHLIVAGGY DERVLENVEH YQELKKMVQQ SDLGQYVTFL
   301  RSFSDKQKIS LLHSCTCVLY TPSNEHFGIV PLEAMYMQCP VIAVNSGGPL ESIDHSVTGF
   361  LCEPDPVHFS EAIEKFIREP SLKATMGLAG RARVKEKFSP EAFTEQLYRY VTKLLV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ALG2 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

0

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

70 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ALG2.

Disease | AllUniProt

Conditions ALG2 is implicated in, by any mechanism.

• Congenital disorder of glycosylation 1I (CDG1I) MIM:607906
• Myasthenic syndrome, congenital, 14 (CMS14) MIM:616228

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 372 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• ALG2-congenital disorder of glycosylation
• Congenital myasthenic syndrome 14

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)

1.18

gnomAD pLI

0

gnomAD missense Z

-0.08

DepMap mean gene effect

-1.36

DepMap dependency class

common

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

• dolichol-linked oligosaccharide biosynthetic process
• glycoprotein biosynthetic process
• protein N-linked glycosylation

Molecular functions

• alpha-1,3-mannosyltransferase activity
• GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity
• GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity

Cellular components

• cytoplasmic side of endoplasmic reticulum membrane
• endomembrane system
• endoplasmic reticulum membrane
• membrane

Protein domainsUniProt · Pfam · InterPro

• Glycosyl transferase, family 1
• Glycosyl transferases group 1
• Mannosyltransferase ALG2
• Glycosyltransferase subfamily 4-like, N-terminal domain
• Glycosyltransferase Family 4

KeywordsUniProt

• Congenital disorder of glycosylation
• Congenital myasthenic syndrome
• Endoplasmic reticulum
• Glycosyltransferase
• Membrane
• Transferase
• Transmembrane
• Transmembrane helix