mannosidase alpha class 2C member 1

Summary
Gene Symbol
  • MAN2C1
Organism
Homo sapiens (human)
External Links
NCBI Gene
4123
HGNC
6827
KEGG Gene ID
hsa:4123
PubChem
4123
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Cobalt
  • Cytoplasm
  • Glycosidase
  • Metal-binding
  • Reference proteome
Proteins
Displaying all 2 entries
UniProt Protein Name
Q9NTJ4
  • Alpha mannosidase 6A8B
  • Alpha-D-mannoside mannohydrolase
  • Mannosidase alpha class 2C member 1
A0A140VJN9
Gene Ontology (GO)
Displaying all 2 entries
GO Term Evidence Code PMID
cytosol
nucleoplasm
KEGG BRITE Database
Orthology
K01191
Name
alpha-mannosidase [EC:3.2.1.24]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 12 in total
DO ID Disease Name Source
DOID:10283 prostate cancer
DOID:10286 prostate carcinoma
DOID:1059 intellectual disability
DOID:1107 esophageal carcinoma
DOID:1612 breast cancer
DOID:2055 post-traumatic stress disorder
DOID:305 carcinoma
DOID:3413 alpha-mannosidosis
DOID:3459 breast carcinoma
DOID:4015 sarcomatoid carcinoma
The Human Phenotype Ontology
Displaying entries 1 - 10 of 33 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000158 Macroglossia
HP:0000218 High palate
HP:0000256 Macrocephaly
HP:0000316 Hypertelorism
HP:0000324 Facial asymmetry
HP:0000347 Micrognathia
HP:0000348 High forehead
HP:0000365 Hearing impairment
HP:0000480 Retinal coloboma
Displaying 1 entry
Disease ID Disease Name
OMIM:619775
  • congenital disorder of deglycosylation 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024