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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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    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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