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

Gene ID: 4123, updated on 5-Mar-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. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
15q24.2
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (75355792..75368607, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (73225866..73238703, complement)
105.20220307 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: 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. Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder. Maia N, et al. Am J Hum Genet, 2022 Feb 3. PMID 35045343, Free PMC Article
  2. Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence. Cáceres A, et al. PLoS One, 2016. PMID 27355585, Free PMC Article
  3. Dual functions for cytosolic α-mannosidase (Man2C1): its down-regulation causes mitochondria-dependent apoptosis independently of its α-mannosidase activity. Wang L, et al. J Biol Chem, 2013 Apr 26. PMID 23486476, Free PMC Article
  4. Gene expression and methylation signatures of MAN2C1 are associated with PTSD. Uddin M, et al. Dis Markers, 2011. PMID 21508515, Free PMC Article
  5. Overexpression of Man2C1 leads to protein underglycosylation and upregulation of endoplasmic reticulum-associated degradation pathway. Bernon C, et al. Glycobiology, 2011 Mar. PMID 20978011

See all (52) 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)

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

  • 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_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
    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

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