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    MAN2A1 mannosidase alpha class 2A member 1 [ Homo sapiens (human) ]

    Gene ID: 4124, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MAN2A1provided by HGNC
    Official Full Name
    mannosidase alpha class 2A member 1provided by HGNC
    Primary source
    HGNC:HGNC:6824
    See related
    Ensembl:ENSG00000112893 MIM:154582; AllianceGenome:HGNC:6824
    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
    MANA2; MANII; GOLIM7; AMan II
    Summary
    This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013]
    Expression
    Ubiquitous expression in duodenum (RPKM 14.9), colon (RPKM 14.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MAN2A1 in Genome Data Viewer
    Location:
    5q21.3
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (109689927..109869625)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (110194449..110374084)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (109025628..109205326)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22882 Neighboring gene Sharpr-MPRA regulatory region 13215 Neighboring gene keratin 18 pseudogene 42 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:108976475-108977048 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:109024284-109024952 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16225 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16227 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16228 Neighboring gene MAN2A1 divergent transcript Neighboring gene RN7SK pseudogene 230 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:109168416-109168663 Neighboring gene Sharpr-MPRA regulatory region 1675 Neighboring gene cancer/testis antigen family 45 member B1, pseudogene Neighboring gene long intergenic non-protein coding RNA 1848 Neighboring gene uncharacterized LOC105379119 Neighboring gene PGAM family member 5, mitochondrial serine/threonine protein phosphatase pseudogene 1

    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. Cell type-dependent variations in the subcellular distribution of alpha-mannosidase I and II. Velasco A, et al. J Cell Biol, 1993 Jul. PMID 8314846, Free PMC Article
    2. Biosynthesis and modification of Golgi mannosidase II in HeLa and 3T3 cells. Moremen KW, et al. J Biol Chem, 1985 Jun 10. PMID 3922977
    3. A human embryonic kidney 293T cell line mutated at the Golgi alpha-mannosidase II locus. Crispin M, et al. J Biol Chem, 2009 Aug 7. PMID 19465480, Free PMC Article
    4. Elevated Golgi pH impairs terminal N-glycosylation by inducing mislocalization of Golgi glycosyltransferases. Rivinoja A, et al. J Cell Physiol, 2009 Jul. PMID 19277980
    5. Disruption of alpha-mannosidase processing induces non-canonical hybrid-type glycosylation. Crispin M, et al. FEBS Lett, 2007 May 15. PMID 17466984

    See all (72) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Inhibition of MAN2A1 Enhances the Immune Response to Anti-PD-L1 in Human Tumors.
      Title: Inhibition of MAN2A1 Enhances the Immune Response to Anti-PD-L1 in Human Tumors.
    2. Golgi Alpha-Mannosidase II as a Novel Biomarker Predicts Prognosis in Clear Cell Renal Cell Carcinoma.
      Title: Golgi Alpha-Mannosidase II as a Novel Biomarker Predicts Prognosis in Clear Cell Renal Cell Carcinoma.
    3. he QSAR models with the fragmented QM-DFT descriptors may find a useful application in structure-based drug design where pure empirical and force field methods reached their limits and where quantum mechanics effects are critical for ligand-receptor interactions. The optimized models will apply in lead optimization processes for GMII drug developments.
      Title: Using DFT methodology for more reliable predictive models: Design of inhibitors of Golgi α-Mannosidase II.
    4. Many human tumor types and cancer cell lines express the MAN2A1-FER fusion, which increases proliferation and invasiveness of cancer cell lines and has liver oncogenic activity in mice.
      Title: MAN2A1-FER Fusion Gene Is Expressed by Human Liver and Other Tumor Types and Has Oncogenic Activity in Mice.
    5. KCNQ and AP3S1, but not MAN2A1 or ALDH7A1 have a role in risk of type 2 diabetes in the Chinese Northern Han population
      Title: Variants in KCNQ1, AP3S1, MAN2A1, and ALDH7A1 and the risk of type 2 diabetes in the Chinese Northern Han population: a case-control study and meta-analysis.
    6. Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Variants in KCNQ1, AP3S1, MAN2A1, and ALDH7A1 and the risk of type 2 diabetes in the Chinese Northern Han population: a case-control study and meta-analysis.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association study of childhood acute lymphoblastic leukemia in Korea.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus.
    10. The disruption of Golgi alpha-mannosidase II activity by swainsonine in human embryonic kidney cells is capable of inducing a novel class of hybrid-type glycosylation containing a partially processed mannose moiety.
      Title: Disruption of alpha-mannosidase processing induces non-canonical hybrid-type glycosylation.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
    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)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Specific alterations of the N-linked carbohydrates on HIV-1 gp120 and gp41 by glucosidases and mannosidase inhibitors can enhance mannose-binding lectin (MBL)-mediated neutralization of virus by strengthening the interaction of HIV-1 with MBL PubMed
    env HIV-1 gp120 N-linked oligosaccharides are processed by manosidase I and II in the Golgi complex PubMed
    Envelope surface glycoprotein gp160, precursor env Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus PubMed
    Envelope transmembrane glycoprotein gp41 env Mannose-containing, N-linked oligosaccharide side-chains of HIV-1 gp41 are involved in the initial stage of infection by HIV-1; glycosylation inhibitors block virus-cell and cell-cell fusion and release of the virions PubMed

    Go to the HIV-1, Human Interaction Database

    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

    • DKFZp686N09247

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-mannosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables alpha-mannosidase activity TAS
    Traceable Author Statement
    more info
    		  
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity, hydrolyzing N-glycosyl compounds IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in N-glycan processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in liver development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lung alveolus development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mannose metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrion organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of neurogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in respiratory gaseous exchange by respiratory system IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in retina morphogenesis in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vacuole organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in viral protein processing TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi medial cisterna IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in cis-Golgi network IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    alpha-mannosidase 2
    Names
    Golgi alpha-mannosidase II
    golgi integral membrane protein 7
    mannosidase, alpha type II
    mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase
    NP_002363.2
    XP_011541697.1
    XP_016864961.1
    XP_024301816.1
    XP_054208571.1
    XP_054208572.1
    XP_054208573.1

    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.

    mRNA and Protein(s)

    1. NM_002372.4 → NP_002363.2  alpha-mannosidase 2

      See identical proteins and their annotated locations for NP_002363.2

      Status: REVIEWED

      Source sequence(s)
      AC011366, AL833486, BC111062, D63998, U31520
      Consensus CDS
      CCDS34209.1
      UniProtKB/Swiss-Prot
      Q16706, Q16767
      UniProtKB/TrEMBL
      A5PKX5
      Related
      ENSP00000261483.4, ENST00000261483.5
      Conserved Domains (4) summary
      PLN02701
      Location:128 → 1144
      PLN02701; alpha-mannosidase
      cd11666
      Location:165 → 508
      GH38N_Man2A1; N-terminal catalytic domain of Golgi alpha-mannosidase II and similar proteins; glycoside hydrolase family 38 (GH38)
      smart00872
      Location:503 → 588
      Alpha-mann_mid; Alpha mannosidase, middle domain
      pfam07748
      Location:754 → 1139
      Glyco_hydro_38C; Glycosyl hydrolases family 38 C-terminal domain

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      109689927..109869625
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543395.4 → XP_011541697.1  alpha-mannosidase 2 isoform X3

      Conserved Domains (3) summary
      cd11666
      Location:165 → 508
      GH38N_Man2A1; N-terminal catalytic domain of Golgi alpha-mannosidase II and similar proteins; glycoside hydrolase family 38 (GH38)
      smart00872
      Location:503 → 588
      Alpha-mann_mid; Alpha mannosidase, middle domain
      cl20343
      Location:754 → 853
      Glyco_hydro_38C; Glycosyl hydrolases family 38 C-terminal domain

    2. XM_017009472.2 → XP_016864961.1  alpha-mannosidase 2 isoform X2

      UniProtKB/TrEMBL
      A5PKX5
      Conserved Domains (4) summary
      PLN02701
      Location:79 → 1095
      PLN02701; alpha-mannosidase
      cd11666
      Location:116 → 459
      GH38N_Man2A1; N-terminal catalytic domain of Golgi alpha-mannosidase II and similar proteins; glycoside hydrolase family 38 (GH38)
      smart00872
      Location:454 → 539
      Alpha-mann_mid; Alpha mannosidase, middle domain
      pfam07748
      Location:705 → 1090
      Glyco_hydro_38C; Glycosyl hydrolases family 38 C-terminal domain

    3. XM_024446048.2 → XP_024301816.1  alpha-mannosidase 2 isoform X1

      UniProtKB/TrEMBL
      A5PKX5
      Conserved Domains (1) summary
      PLN02701
      Location:1 → 946
      PLN02701; alpha-mannosidase

    RNA

    1. XR_007058604.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      110194449..110374084
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352598.1 → XP_054208573.1  alpha-mannosidase 2 isoform X3

    2. XM_054352597.1 → XP_054208572.1  alpha-mannosidase 2 isoform X2

    3. XM_054352596.1 → XP_054208571.1  alpha-mannosidase 2 isoform X1

    RNA

    1. XR_008487121.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16706.2 GenPept UniProtKB/Swiss-Prot:Q16706

    Gene LinkOut

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

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