MAN2C1 (mannosidase alpha class 2C member 1)

2009-01-01 Affiliation

Identity

HGNC

MAN2C1

LOCATION

15q24.2

LOCUSID

4123

ALIAS

MAN6A8,MANA,MANA1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 4123
MIM: 154580
HGNC: 6827
Ensembl: ENSG00000140400

Variants:

dbSNP: 4123
ClinVar: 4123
TCGA: ENSG00000140400
COSMIC: MAN2C1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000140400	ENST00000267978	Q9NTJ4
ENSG00000140400	ENST00000267978	A0A140VJN9
ENSG00000140400	ENST00000421803	B4DH23
ENSG00000140400	ENST00000561615	H3BUW3
ENSG00000140400	ENST00000562071	H3BQJ2
ENSG00000140400	ENST00000563622	Q9NTJ4
ENSG00000140400	ENST00000565683	Q9NTJ4
ENSG00000140400	ENST00000565784	H3BRV3
ENSG00000140400	ENST00000566256	H3BQH9
ENSG00000140400	ENST00000566634	H3BRV3
ENSG00000140400	ENST00000568374	H3BRI3
ENSG00000140400	ENST00000569355	H3BMJ3
ENSG00000140400	ENST00000569482	Q9NTJ4
ENSG00000140400	ENST00000570257	H3BSE5
ENSG00000140400	ENST00000618257	A0A0C4DGU9

Expression (GTEx)

100

150

200

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Other glycan degradation	KEGG	ko00511
Other glycan degradation	KEGG	hsa00511
Metabolism	REACTOME	R-HSA-1430728
Metabolism of carbohydrates	REACTOME	R-HSA-71387
Lysosomal oligosaccharide catabolism	REACTOME	R-HSA-8853383

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
35045343	2022	Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.	4
35045343	2022	Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.	4
27355585	2016	Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence.	2
27355585	2016	Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence.	2
23486476	2013	Dual functions for cytosolic α-mannosidase (Man2C1): its down-regulation causes mitochondria-dependent apoptosis independently of its α-mannosidase activity.	15
23486476	2013	Dual functions for cytosolic α-mannosidase (Man2C1): its down-regulation causes mitochondria-dependent apoptosis independently of its α-mannosidase activity.	15
20978011	2011	Overexpression of Man2C1 leads to protein underglycosylation and upregulation of endoplasmic reticulum-associated degradation pathway.	11
21508515	2011	Gene expression and methylation signatures of MAN2C1 are associated with PTSD.	39
21556061	2011	α-Mannosidase 2C1 attenuates PTEN function in prostate cancer cells.	34
20978011	2011	Overexpression of Man2C1 leads to protein underglycosylation and upregulation of endoplasmic reticulum-associated degradation pathway.	11
21508515	2011	Gene expression and methylation signatures of MAN2C1 are associated with PTSD.	39
21556061	2011	α-Mannosidase 2C1 attenuates PTEN function in prostate cancer cells.	34
19572206	2010	hMan2c1 transgene promotes tumor progress in mice.	6
19572206	2010	hMan2c1 transgene promotes tumor progress in mice.	6
19018777	2008	Inhibition of alpha-mannosidase Man2c1 gene expression suppresses growth of esophageal carcinoma cells through mitotic arrest and apoptosis.	7

Citation

Dessen P

MAN2C1 (mannosidase alpha class 2C member 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-01-01

Online version: http://atlasgeneticsoncology.org/gene/50614/man2c1-(mannosidase-alpha-class-2c-member-1)