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

    Gene ID: 85365, updated on 27-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
    mouse all
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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
    • 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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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