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ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase [ Homo sapiens (human) ]

Gene ID: 85365, updated on 2-Nov-2024

Summary

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Official Symbol
ALG2provided by HGNC
Official Full Name
ALG2 alpha-1,3/1,6-mannosyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:23159
See related
Ensembl:ENSG00000119523 MIM:607905; AllianceGenome:HGNC:23159
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CDG1I; CDGIi; CMS14; NET38; CMSTA3; hALPG2
Summary
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]
Annotation information
Note: ALG2 (Gene ID: 85365) and PDCD6 (Gene ID: 10016) share the ALG2 symbol/alias in common. ALG2 is a widely used alternative name for programmed cell death 6 (PDCD6), whose synonym is apoptosis-linked gene-2. This can be confused with the official symbol for ALG2, alpha-1,3/1,6-mannosyltransferase (ALG2). [31 May 2018]
Expression
Ubiquitous expression in thyroid (RPKM 18.5), adrenal (RPKM 14.8) and 25 other tissues See more
Orthologs
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Genomic context

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See ALG2 in Genome Data Viewer
Location:
9q22.33
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (99216425..99221942, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (111388129..111393646, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (101978707..101984224, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28701 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20126 Neighboring gene RNA, 7SL, cytoplasmic 794, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_103898 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_103900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28702 Neighboring gene SEC61 translocon subunit beta Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_103905 Neighboring gene uncharacterized LOC124902230

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Topological and enzymatic analysis of human Alg2 mannosyltransferase reveals its role in lipid-linked oligosaccharide biosynthetic pathway. Xiang MH, et al. Commun Biol, 2022 Feb 8. PMID 35136180, Free PMC Article
  2. A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis. Thiel C, et al. J Biol Chem, 2003 Jun 20. PMID 12684507
  3. ALG2 regulates type I interferon responses by inhibiting STING trafficking. Ji W, et al. J Cell Sci, 2021 Dec 15. PMID 34787301
  4. Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. Cossins J, et al. Brain, 2013 Mar. PMID 23404334, Free PMC Article
  5. Identification of Alix-type and Non-Alix-type ALG-2-binding sites in human phospholipid scramblase 3: differential binding to an alternatively spliced isoform and amino acid-substituted mutants. Shibata H, et al. J Biol Chem, 2008 Apr 11. PMID 18256029

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Topological and enzymatic analysis of human Alg2 mannosyltransferase reveals its role in lipid-linked oligosaccharide biosynthetic pathway.
    Title: Topological and enzymatic analysis of human Alg2 mannosyltransferase reveals its role in lipid-linked oligosaccharide biosynthetic pathway.
  2. We identify ALG14 and ALG2 as novel genes in which mutations cause a congenital myasthenic syndrome
    Title: Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetics of callous-unemotional behavior in children.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ14511

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables alpha-1,3-mannosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables alpha-1,3-mannosyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables alpha-1,3-mannosyltransferase activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in dolichol-linked oligosaccharide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in dolichol-linked oligosaccharide biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in dolichol-linked oligosaccharide biosynthetic process IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in dolichol-linked oligosaccharide biosynthetic process TAS
Traceable Author Statement
more info
  
acts_upstream_of_positive_effect protein N-linked glycosylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein glycosylation IGI
Inferred from Genetic Interaction
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasmic side of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in membrane HDA PubMed 

General protein information

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Preferred Names
alpha-1,3/1,6-mannosyltransferase ALG2
Names
GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase
GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase
GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase
alpha-1,3-mannosyltransferase ALG2
asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)
asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)
asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog
asparagine-linked glycosylation protein 2 homolog
homolog of yeast ALG2
NP_149078.1
XP_047279952.1
XP_054220043.1
XP_054220044.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008928.1 RefSeqGene

    Range
    5023..10540
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_033087.4 → NP_149078.1  alpha-1,3/1,6-mannosyltransferase ALG2

    See identical proteins and their annotated locations for NP_149078.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript.
    Source sequence(s)
    AA017454, AB161356, AK075189, DB019023
    Consensus CDS
    CCDS6739.1
    UniProtKB/Swiss-Prot
    A2A2Y0, Q8NBX2, Q8NC39, Q9H553
    Related
    ENSP00000417764.1, ENST00000476832.2
    Conserved Domains (1) summary
    cd03805
    Location:16 → 407
    GT1_ALG2_like; This family is most closely related to the GT1 family of glycosyltransferases. ALG2, a 1,3-mannosyltransferase, in yeast catalyzes the mannosylation of Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2) ...

RNA

  1. NR_024532.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an additional exon, compared to variant 1, which results in a frameshift and early stop codon. The predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated decay (NMD).
    Source sequence(s)
    AA017454, AK074988, DA076693
    Related
    ENST00000238477.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    99216425..99221942 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047423996.1 → XP_047279952.1  alpha-1,3/1,6-mannosyltransferase ALG2 isoform X1

    Related
    ENSP00000326609.6, ENST00000319033.7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    111388129..111393646 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054364068.1 → XP_054220043.1  alpha-1,3/1,6-mannosyltransferase ALG2 isoform X1

  2. XM_054364069.1 → XP_054220044.1  alpha-1,3/1,6-mannosyltransferase ALG2 isoform X2

    UniProtKB/TrEMBL
    A0A0A0MTE0

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_197973.2: Suppressed sequence

    Description
    NM_197973.2: This RefSeq was permanently suppressed because it initiates translation from an unsupported internal methionine compared to other transcripts at this locus. By correcting the CDS, NM_197973.2 is a nonsense-mediated m
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H553.1 GenPept UniProtKB/Swiss-Prot:Q9H553

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