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MAN2A2 mannosidase alpha class 2A member 2 [ Homo sapiens (human) ]

Gene ID: 4122, updated on 3-Apr-2024

Summary

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Official Symbol
MAN2A2provided by HGNC
Official Full Name
mannosidase alpha class 2A member 2provided by HGNC
Primary source
HGNC:HGNC:6825
See related
Ensembl:ENSG00000196547 MIM:600988; AllianceGenome:HGNC:6825
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MANA2X; alpha-MIIx
Summary
Predicted to enable alpha-mannosidase activity. Predicted to be involved in N-glycan processing and protein deglycosylation. Predicted to be integral component of membrane. Predicted to be active in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 28.4), brain (RPKM 21.1) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See MAN2A2 in Genome Data Viewer
Location:
15q26.1
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (90902382..90922585)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (88661965..88682168)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (91445612..91465815)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:91412350-91413549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10096 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10097 Neighboring gene furin, paired basic amino acid cleaving enzyme Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10098 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10099 Neighboring gene FES proto-oncogene, tyrosine kinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10100 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6831 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6832 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10101 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10105 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6833 Neighboring gene unc-45 myosin chaperone A Neighboring gene HD domain containing 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:91496471-91496971 Neighboring gene RCCD1 and UNC45A antisense RNA 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. Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement. Mahajan S, et al. J Med Genet, 2023 Jul. PMID 36357165, Free PMC Article
  2. High glucose-ROS conditions enhance the progression in cholangiocarcinoma via upregulation of MAN2A2 and CHD8. Thonsri U, et al. Cancer Sci, 2021 Jan. PMID 33141432, Free PMC Article
  3. Molecular cloning and expression of cDNAs encoding human alpha-mannosidase II and a previously unrecognized alpha-mannosidase IIx isozyme. Misago M, et al. Proc Natl Acad Sci U S A, 1995 Dec 5. PMID 8524845, Free PMC Article
  4. Glycosylation site-specific analysis of HIV envelope proteins (JR-FL and CON-S) reveals major differences in glycosylation site occupancy, glycoform profiles, and antigenic epitopes' accessibility. Go EP, et al. J Proteome Res, 2008 Apr. PMID 18330979, Free PMC Article
  5. Env length and N-linked glycosylation following transmission of human immunodeficiency virus Type 1 subtype B viruses. Liu Y, et al. Virology, 2008 May 10. PMID 18314154, Free PMC Article

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement.
    Title: Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement.
  2. High glucose-ROS conditions enhance the progression in cholangiocarcinoma via upregulation of MAN2A2 and CHD8.
    Title: High glucose-ROS conditions enhance the progression in cholangiocarcinoma via upregulation of MAN2A2 and CHD8.
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
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alpha-mannosidase activity IBA
Inferred from Biological aspect of Ancestor
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
  
Process Evidence Code Pubs
involved_in N-glycan processing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mannose metabolic process 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
  
Component Evidence Code Pubs
is_active_in Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
alpha-mannosidase 2x
Names
MAN IIx
alpha-mannosidase IIx
mannosidase, alpha type II-X
mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase
manosidase, alpha-, type II, isozyme X
NP_001307906.1
NP_006113.2
XP_005254967.1
XP_016877673.1
XP_016877674.1
XP_024305688.1
XP_024305689.1
XP_024305690.1
XP_024305691.1
XP_024305692.1
XP_047288463.1
XP_047288464.1
XP_047288465.1
XP_047288466.1
XP_047288467.1
XP_047288468.1
XP_047288469.1
XP_047288470.1
XP_047288471.1
XP_047288472.1
XP_054233892.1
XP_054233893.1
XP_054233894.1
XP_054233895.1
XP_054233896.1
XP_054233897.1
XP_054233898.1
XP_054233899.1
XP_054233900.1
XP_054233901.1
XP_054233902.1
XP_054233903.1
XP_054233904.1
XP_054233905.1
XP_054233906.1
XP_054233907.1
XP_054233908.1
XP_054233909.1

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_001320977.2 → NP_001307906.1  alpha-mannosidase 2x isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC067986, AC068831
    Conserved Domains (1) summary
    PLN02701
    Location:136 → 1174
    PLN02701; alpha-mannosidase

  2. NM_006122.4 → NP_006113.2  alpha-mannosidase 2x isoform 1

    See identical proteins and their annotated locations for NP_006113.2

    Status: VALIDATED

    Source sequence(s)
    AC067986, AC068831, AI912006, AK289863
    Consensus CDS
    CCDS32332.1
    UniProtKB/Swiss-Prot
    A6NH12, A8K1E8, P49641, Q13754
    Related
    ENSP00000452948.1, ENST00000559717.6
    Conserved Domains (1) summary
    PLN02701
    Location:136 → 1149
    PLN02701; alpha-mannosidase

RNA

  1. NR_135502.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC067986, AC068831, AI912006, L28821

  2. NR_135503.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC067986, AC068831, AI912006, D55649

  3. NR_135504.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC067986, AC068831, AI912006, BC144111

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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    90902382..90922585
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047432507.1 → XP_047288463.1  alpha-mannosidase 2x isoform X1

  2. XM_047432508.1 → XP_047288464.1  alpha-mannosidase 2x isoform X2

    UniProtKB/Swiss-Prot
    A6NH12, A8K1E8, P49641, Q13754

  3. XM_047432510.1 → XP_047288466.1  alpha-mannosidase 2x isoform X2

    UniProtKB/Swiss-Prot
    A6NH12, A8K1E8, P49641, Q13754

  4. XM_024449923.2 → XP_024305691.1  alpha-mannosidase 2x isoform X2

    UniProtKB/Swiss-Prot
    A6NH12, A8K1E8, P49641, Q13754
    Conserved Domains (1) summary
    PLN02701
    Location:136 → 1149
    PLN02701; alpha-mannosidase

  5. XM_005254910.4 → XP_005254967.1  alpha-mannosidase 2x isoform X1

    See identical proteins and their annotated locations for XP_005254967.1

    Conserved Domains (1) summary
    PLN02701
    Location:136 → 1174
    PLN02701; alpha-mannosidase

  6. XM_017022185.2 → XP_016877674.1  alpha-mannosidase 2x isoform X2

    UniProtKB/Swiss-Prot
    A6NH12, A8K1E8, P49641, Q13754
    Conserved Domains (1) summary
    PLN02701
    Location:136 → 1149
    PLN02701; alpha-mannosidase

  7. XM_047432509.1 → XP_047288465.1  alpha-mannosidase 2x isoform X2

    UniProtKB/Swiss-Prot
    A6NH12, A8K1E8, P49641, Q13754

  8. XM_024449920.2 → XP_024305688.1  alpha-mannosidase 2x isoform X1

    Conserved Domains (1) summary
    PLN02701
    Location:136 → 1174
    PLN02701; alpha-mannosidase

  9. XM_024449922.2 → XP_024305690.1  alpha-mannosidase 2x isoform X2

    UniProtKB/Swiss-Prot
    A6NH12, A8K1E8, P49641, Q13754
    Conserved Domains (1) summary
    PLN02701
    Location:136 → 1149
    PLN02701; alpha-mannosidase

  10. XM_024449921.2 → XP_024305689.1  alpha-mannosidase 2x isoform X1

    Conserved Domains (1) summary
    PLN02701
    Location:136 → 1174
    PLN02701; alpha-mannosidase

  11. XM_024449924.2 → XP_024305692.1  alpha-mannosidase 2x isoform X2

    UniProtKB/Swiss-Prot
    A6NH12, A8K1E8, P49641, Q13754
    Conserved Domains (1) summary
    PLN02701
    Location:136 → 1149
    PLN02701; alpha-mannosidase

  12. XM_017022184.2 → XP_016877673.1  alpha-mannosidase 2x isoform X1

    Conserved Domains (1) summary
    PLN02701
    Location:136 → 1174
    PLN02701; alpha-mannosidase

  13. XM_047432511.1 → XP_047288467.1  alpha-mannosidase 2x isoform X3

  14. XM_047432512.1 → XP_047288468.1  alpha-mannosidase 2x isoform X4

    UniProtKB/TrEMBL
    H0YNG5
    Related
    ENSP00000453999.1, ENST00000560451.5

  15. XM_047432513.1 → XP_047288469.1  alpha-mannosidase 2x isoform X5

    UniProtKB/TrEMBL
    A0A0C4DGL1
    Related
    ENSP00000452631.1, ENST00000558161.5

  16. XM_047432514.1 → XP_047288470.1  alpha-mannosidase 2x isoform X6

  17. XM_047432515.1 → XP_047288471.1  alpha-mannosidase 2x isoform X7

  18. XM_047432516.1 → XP_047288472.1  alpha-mannosidase 2x isoform X8

    Related
    ENSP00000453140.1, ENST00000557865.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    88661965..88682168
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054377920.1 → XP_054233895.1  alpha-mannosidase 2x isoform X1

  2. XM_054377926.1 → XP_054233901.1  alpha-mannosidase 2x isoform X2

    UniProtKB/Swiss-Prot
    A6NH12, A8K1E8, P49641, Q13754

  3. XM_054377928.1 → XP_054233903.1  alpha-mannosidase 2x isoform X2

    UniProtKB/Swiss-Prot
    A6NH12, A8K1E8, P49641, Q13754

  4. XM_054377922.1 → XP_054233897.1  alpha-mannosidase 2x isoform X2

    UniProtKB/Swiss-Prot
    A6NH12, A8K1E8, P49641, Q13754

  5. XM_054377918.1 → XP_054233893.1  alpha-mannosidase 2x isoform X1

  6. XM_054377925.1 → XP_054233900.1  alpha-mannosidase 2x isoform X2

    UniProtKB/Swiss-Prot
    A6NH12, A8K1E8, P49641, Q13754

  7. XM_054377927.1 → XP_054233902.1  alpha-mannosidase 2x isoform X2

    UniProtKB/Swiss-Prot
    A6NH12, A8K1E8, P49641, Q13754

  8. XM_054377919.1 → XP_054233894.1  alpha-mannosidase 2x isoform X1

  9. XM_054377923.1 → XP_054233898.1  alpha-mannosidase 2x isoform X2

    UniProtKB/Swiss-Prot
    A6NH12, A8K1E8, P49641, Q13754

  10. XM_054377917.1 → XP_054233892.1  alpha-mannosidase 2x isoform X1

  11. XM_054377924.1 → XP_054233899.1  alpha-mannosidase 2x isoform X2

    UniProtKB/Swiss-Prot
    A6NH12, A8K1E8, P49641, Q13754

  12. XM_054377921.1 → XP_054233896.1  alpha-mannosidase 2x isoform X1

  13. XM_054377929.1 → XP_054233904.1  alpha-mannosidase 2x isoform X3

  14. XM_054377930.1 → XP_054233905.1  alpha-mannosidase 2x isoform X4

    UniProtKB/TrEMBL
    H0YNG5

  15. XM_054377931.1 → XP_054233906.1  alpha-mannosidase 2x isoform X5

    UniProtKB/TrEMBL
    A0A0C4DGL1

  16. XM_054377932.1 → XP_054233907.1  alpha-mannosidase 2x isoform X6

  17. XM_054377933.1 → XP_054233908.1  alpha-mannosidase 2x isoform X7

  18. XM_054377934.1 → XP_054233909.1  alpha-mannosidase 2x isoform X8

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P49641.3 GenPept UniProtKB/Swiss-Prot:P49641

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