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

Gene ID: 4124, updated on 3-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (109689927..109869625)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (110194449..110374084)
105.20220307 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
  • 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. Golgi Alpha-Mannosidase II as a Novel Biomarker Predicts Prognosis in Clear Cell Renal Cell Carcinoma. Li C, et al. Oncol Res Treat, 2020. PMID 32403105
  2. Using DFT methodology for more reliable predictive models: Design of inhibitors of Golgi α-Mannosidase II. Bobovská A, et al. J Mol Graph Model, 2016 May. PMID 27035259
  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 (71) 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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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
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 deglycosylation IBA
Inferred from Biological aspect of Ancestor
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_2023_10

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

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