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    MAN2C1 mannosidase alpha class 2C member 1 [ Homo sapiens (human) ]

    Gene ID: 4123, updated on 27-Dec-2024

    Summary

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    Official Symbol
    MAN2C1provided by HGNC
    Official Full Name
    mannosidase alpha class 2C member 1provided by HGNC
    Primary source
    HGNC:HGNC:6827
    See related
    Ensembl:ENSG00000140400 MIM:154580; AllianceGenome:HGNC:6827
    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
    MANA; CDDG2; MANA1; MAN6A8
    Summary
    Predicted to enable alpha-mannosidase activity. Predicted to be involved in oligosaccharide catabolic process. Located in nucleoplasm. Implicated in congenital disorder of deglycosylation 2. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in fat (RPKM 23.4), ovary (RPKM 23.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MAN2C1 in Genome Data Viewer
    Location:
    15q24.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (75355792..75368607, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (73225866..73238703, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (75648133..75660948, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9848 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9849 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9850 Neighboring gene Sharpr-MPRA regulatory region 1822 Neighboring gene COMM domain containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6667 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75660721-75661253 Neighboring gene nei like DNA glycosylase 1 Neighboring gene microRNA 631 Neighboring gene SIN3 transcription regulator family member A Neighboring gene ribosomal protein L13 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6668 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:75742449-75743368 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9853 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75744915-75745446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75745447-75745979 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6671 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9857 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9858 Neighboring gene Sharpr-MPRA regulatory region 2587 Neighboring gene uncharacterized LOC105370902 Neighboring gene protein tyrosine phosphatase non-receptor type 9

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Inhibition of 6A8 alpha-mannosidase causes oncosis-like death of BJAB cells. Shi GX, et al. Cell Mol Biol (Noisy-le-grand), 2002. PMID 12643454
    2. Report of the committee on the genetic constitution of chromosomes 13, 14, 15, 16, 17, 18, 19, 20, 21, and 22. Ferguson-Smith MA, et al. Cytogenet Cell Genet, 1979. PMID 396129
    3. The soluble form of rat liver alpha-mannosidase is immunologically related to the endoplasmic reticulum membrane alpha-mannosidase. Bischoff J, et al. J Biol Chem, 1986 Apr 5. PMID 2420791
    4. Effects of mitogenic stimulation on lymphocyte alpha-D-mannosidases. Abraham D, et al. Eur J Cell Biol, 1986 Apr. PMID 3709545
    5. Purification and characterization of rat epididymal-fluid alpha-D-mannosidase: similarities to sperm plasma-membrane alpha-D-mannosidase. Tulsiani DR, et al. Biochem J, 1993 Mar 1. PMID 8452531, Free PMC Article

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
      Title: Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
    2. MAN2C1 may contribute to the verbal difficulties observed in microduplications and to the intellectual disability of microdeletion syndromes
      Title: Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence.
    3. Man2C1 has dual functions: one in glycan catabolism and another in apoptotic signaling.
      Title: Dual functions for cytosolic α-mannosidase (Man2C1): its down-regulation causes mitochondria-dependent apoptosis independently of its α-mannosidase activity.
    4. MAN2C1 binds PTEN thereby inhibiting its phosphatidylinositol 3,4,5 triphosphate phosphatase activity
      Title: α-Mannosidase 2C1 attenuates PTEN function in prostate cancer cells.
    5. MAN2C1 methylation levels modify cumulative traumatic burden on risk of post traumatic stress disorder
      Title: Gene expression and methylation signatures of MAN2C1 are associated with PTSD.
    6. regulation of Man2C1 expression is essential for maintaining efficient protein N-glycosylation
      Title: Overexpression of Man2C1 leads to protein underglycosylation and upregulation of endoplasmic reticulum-associated degradation pathway.
    7. Reduced antibody response to BSA was observed in transgenic mice, suggesting that specific antibody response to tumor antigens might be suppressed by hMan2c1 transgene.
      Title: hMan2c1 transgene promotes tumor progress in mice.
    8. Inhibition of MAN2C1 gene expression suppresses growth of esophageal carcinoma cells through mitotic arrest and apoptosis.
      Title: Inhibition of alpha-mannosidase Man2c1 gene expression suppresses growth of esophageal carcinoma cells through mitotic arrest and apoptosis.
    9. plays an important role in preventing oncosis-like death in BJAB cells
      Title: Inhibition of 6A8 alpha-mannosidase causes oncosis-like death of BJAB cells.
    10. Results suggest that inhibition of alpha-mannosidase Man2c1 gene expression enhances adhesion of Jurkat T cells.
      Title: Inhibition of the alpha-mannosidase Man2c1 gene expression enhances adhesion of Jurkat cells.
    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

    Associated conditions

    Description Tests
    Congenital disorder of deglycosylation 2
    MedGen: C5676931 OMIM: 619775 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    • MGC87979, DKFZp686E23167

    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 metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in mannose metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in oligosaccharide catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    alpha-mannosidase 2C1
    Names
    alpha mannosidase 6A8B
    alpha-D-mannoside mannohydrolase
    cytosolic alpha-mannosidase
    mannosidase, alpha 6A8
    mannosidase, alpha A, cytoplasmic
    testicular tissue protein Li 115
    NP_001243423.1
    NP_001243424.1
    NP_001243425.1
    NP_006706.2

    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_001256494.2 → NP_001243423.1  alpha-mannosidase 2C1 isoform 2

      See identical proteins and their annotated locations for NP_001243423.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses two alternate splice sites in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1. Isoform 2 also contains a short frame-shifted region compared to isoform 1.
      Source sequence(s)
      BC038594, DC396372
      Consensus CDS
      CCDS58391.1
      UniProtKB/Swiss-Prot
      Q9NTJ4
      Related
      ENSP00000457788.1, ENST00000565683.5
      Conserved Domains (4) summary
      cd10813
      Location:252 → 503
      GH38N_AMII_Man2C1; N-terminal catalytic domain of mammalian cytosolic alpha-mannosidase Man2C1 and similar proteins; glycoside hydrolase family 38 (GH38)
      COG0383
      Location:68 → 1026
      AMS1; Alpha-mannosidase [Carbohydrate transport and metabolism]
      pfam07748
      Location:700 → 1043
      Glyco_hydro_38C; Glycosyl hydrolases family 38 C-terminal domain
      pfam09261
      Location:517 → 596
      Alpha-mann_mid; Alpha mannosidase, middle domain

    2. NM_001256495.2 → NP_001243424.1  alpha-mannosidase 2C1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      BC050550, BC080191, DC342919
      Consensus CDS
      CCDS58390.1
      UniProtKB/Swiss-Prot
      Q9NTJ4
      Related
      ENSP00000455998.1, ENST00000569482.5
      Conserved Domains (4) summary
      cd10813
      Location:252 → 503
      GH38N_AMII_Man2C1; N-terminal catalytic domain of mammalian cytosolic alpha-mannosidase Man2C1 and similar proteins; glycoside hydrolase family 38 (GH38)
      COG0383
      Location:68 → 986
      AMS1; Alpha-mannosidase [Carbohydrate transport and metabolism]
      pfam07748
      Location:622 → 1003
      Glyco_hydro_38C; Glycosyl hydrolases family 38 C-terminal domain
      pfam09261
      Location:517 → 596
      Alpha-mann_mid; Alpha mannosidase, middle domain

    3. NM_001256496.2 → NP_001243425.1  alpha-mannosidase 2C1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two exons in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.
      Source sequence(s)
      AK225145, BC050550, DC342919
      Consensus CDS
      CCDS58389.1
      UniProtKB/Swiss-Prot
      Q9NTJ4
      Related
      ENSP00000454589.1, ENST00000563622.5
      Conserved Domains (4) summary
      COG0383
      Location:200 → 910
      AMS1; Alpha-mannosidase [Carbohydrate transport and metabolism]
      pfam07748
      Location:523 → 927
      Glyco_hydro_38C; Glycosyl hydrolases family 38 C-terminal domain
      pfam09261
      Location:418 → 497
      Alpha-mann_mid; Alpha mannosidase, middle domain
      cl15692
      Location:199 → 404
      CE4_SF; Catalytic NodB homology domain of the carbohydrate esterase 4 superfamily

    4. NM_006715.4 → NP_006706.2  alpha-mannosidase 2C1 isoform 1

      See identical proteins and their annotated locations for NP_006706.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      BC050550, DC342919
      Consensus CDS
      CCDS32298.1
      UniProtKB/Swiss-Prot
      H3BMX2, H3BQY8, H3BUT6, Q13358, Q68EM8, Q9NTJ4, Q9UL64
      UniProtKB/TrEMBL
      A0A140VJN9
      Related
      ENSP00000267978.4, ENST00000267978.10
      Conserved Domains (2) summary
      cd10813
      Location:252 → 503
      GH38N_AMII_Man2C1; N-terminal catalytic domain of mammalian cytosolic alpha-mannosidase Man2C1 and similar proteins; glycoside hydrolase family 38 (GH38)
      COG0383
      Location:68 → 1009
      AMS1; Alpha-mannosidase [Carbohydrate transport and metabolism]

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      75355792..75368607 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      73225866..73238703 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NTJ4.1 GenPept UniProtKB/Swiss-Prot:Q9NTJ4

    Gene LinkOut

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

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