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

Gene ID: 85365, updated on 8-Jul-2018
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; Vega:OTTHUMG00000020355
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
See ALG2 in Genome Data Viewer
Location:
9q22.33
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (99216425..99221964, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (101978707..101984246, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376174 Neighboring gene RNA, 7SL, cytoplasmic 794, pseudogene Neighboring gene Sec61 translocon beta subunit Neighboring gene RNA, 7SK small nuclear pseudogene 225

  • Project title: 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ14511

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
alpha-1,3-mannosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
alpha-1,3-mannosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
alpha-1,3-mannosyltransferase activity TAS
Traceable Author Statement
more info
 
calcium-dependent protein binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
calcium-dependent protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
dolichol-linked oligosaccharide biosynthetic process IGI
Inferred from Genetic Interaction
more info
PubMed 
dolichol-linked oligosaccharide biosynthetic process TAS
Traceable Author Statement
more info
 
mannosylation IEA
Inferred from Electronic Annotation
more info
 
oligosaccharide-lipid intermediate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein glycosylation in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein glycosylation in endoplasmic reticulum IGI
Inferred from Genetic Interaction
more info
PubMed 
response to calcium ion IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
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

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
    5001..10540
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_033087.3NP_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
    Q9H553
    UniProtKB/TrEMBL
    A0A024R184
    Related
    ENSP00000417764.1, OTTHUMP00000123474, ENST00000476832.1, OTTHUMT00000215080
    Conserved Domains (1) summary
    cd03805
    Location:16407
    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_024532.1 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, OTTHUMT00000053394

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    99216425..99221964 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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
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