MAN2C1 (mannosidase alpha class 2C member 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4123
Gene name Gene Name - the full gene name approved by the HGNC.
Mannosidase alpha class 2C member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAN2C1
Synonyms (NCBI Gene) Gene synonyms aliases
CDDG2, MAN6A8, MANA, MANA1
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q24.2
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
miRTarBase ID miRNA Experiments Reference
MIRT037546 hsa-miR-744-5p CLASH 23622248
MIRT1127415 hsa-miR-1289 CLIP-seq
MIRT1127416 hsa-miR-2110 CLIP-seq
MIRT1127417 hsa-miR-2355-5p CLIP-seq
MIRT1127418 hsa-miR-3929 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004559 Function Alpha-mannosidase activity IBA
GO:0004559 Function Alpha-mannosidase activity IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
154580 6827 ENSG00000140400
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9NTJ4
Protein name Alpha-mannosidase 2C1 (EC 3.2.1.24) (Alpha mannosidase 6A8B) (Alpha-D-mannoside mannohydrolase) (Mannosidase alpha class 2C member 1)
Protein function Cleaves alpha 1,2-, alpha 1,3-, and alpha 1,6-linked mannose residues on cytoplasmic free oligosaccharides generated by N-glycoprotein degradation pathways.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01074 Glyco_hydro_38N 252 → 512 Glycosyl hydrolases family 38 N-terminal domain Domain
PF09261 Alpha-mann_mid 517 → 614 Alpha mannosidase middle domain Domain
PF07748 Glyco_hydro_38C 689 → 896 Glycosyl hydrolases family 38 C-terminal domain Domain
PF17677 Glyco_hydro38C2 954 → 1032 Glycosyl hydrolases family 38 C-terminal beta sandwich domain Domain
Sequence 
MAAAPALKHWRTTLERVEKFVSPLYFTDCNLRGRLFGASCPVAVLSSFLTPERLPYQEAV
QRDFRPAQVGDSFGPTWWTCWFRVELTIPEAWVGQEVHLCWESDGEGLVWRDGEPVQGLT
KEGEKTSYVLTDRLGERDPRSLTLYVEVACNGLLGAGKGSMIAAPDPEKMFQLSRAELAV
FHRDVHMLLVDLELLLGIAKGLGKDNQRSFQALYTANQMVNVCDPAQPETFPVAQALASR
FFGQHGGESQHTIHATGHCHIDTAWLWPFKETVRKCARSWVTALQLMERNPEFIFACSQA
QQLEWVKSRYPGLYSRIQEFACRGQFVPVGGTWVEMDGNLPSGEAMVRQFLQGQNFFLQE
FGKMCSEFWLPDTFGYSAQLPQIMHGCGIRRFLTQKLSWNLVNSFPHHTFFWEGLDGSRV
LVHFPPGDSYGMQGSVEEVLKTVANNRDKGRANHSAFLFGFGDGGGGPTQTMLDRLKRLS
NTDGLPRVQLSSPRQLFSALESDSEQLCTWVGELFLELHNGTYTTHAQIKKGNRECERIL
HDVELLSSLALARSAQFLYPAAQLQHLWRLLLLNQFHDVVTGSCIQMVAEEAMCHYEDIR
SHGNTLLSAAAAALCAGEPGPEGLLIVNTLPWKRIEVMALPKPGGAHSLALVTVPSMGYA
PVPPPTSLQPLLPQQPVFVVQETDGSVTLDNGIIRVKLDPTGRLTSLVLVASGREAIAEG
AVGNQFVLFDDVPLYWDAWDVMDYHLETRKPVLGQAGTLAVGTEGGLRGSAWFLLQISPN
SRLSQEVVLDVGCPYVRFHTEVHWHEAHKFLKVEFPARVRSSQATYEIQFGHLQRPTHYN
TSWDWARFEVWAHRWMDLSEHGFGLALLNDCKYGASVRGSILSLSLLRAPKAPDATADTG
RHEFTYALMPHKGSFQDAGVIQAAYSLNFPLLALPAPSPAPATSWSAFSVSSPAVVLETV
KQAESSPQRRSLVLRLYEAHGSHVDCWLHLSLPVQEAILCDLLERPDPAGHLTLRDNRLK
LTFSPFQVLSLLLVLQPPPH
Sequence length 1040
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Other glycan degradation   Lysosomal oligosaccharide catabolism
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Otosclerosis Otosclerosis N/A N/A GWAS
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Callosities Associate 35045343
Cataract Associate 16735990
Developmental Disabilities Associate 35045343
Disease Associate 35045343
Esophageal Neoplasms Associate 19018777
Intellectual Disability Associate 35045343
Keratoconus Associate 16735990
Parkinson Disease Associate 34148545
Polymicrogyria Associate 35045343, 37486637
Spinocerebellar Ataxia 29 Associate 35045343