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

Summary

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

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
MAN2C1 binds PTEN thereby inhibiting its phosphatidylinositol 3,4,5 triphosphate phosphatase activity
Title: α-Mannosidase 2C1 attenuates PTEN function in prostate cancer cells.
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.
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.
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.
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.
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.
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.

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-12510 (e-PCR)
- UniSTS:2075

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

RH91923 (e-PCR)
- UniSTS:90724

D1S1423 (e-PCR)
- UniSTS:149619

D11S3114 (e-PCR)
- UniSTS:152207

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

EC 3.2.1.24

NP_001243424.1

EC 3.2.1.24

NP_001243425.1

EC 3.2.1.24

NP_006706.2

EC 3.2.1.24

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)

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
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
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
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]