MAN2C1 (mannosidase alpha class 2C member 1)

Gene

• Entrez ID: 4123
• Gene name: Mannosidase alpha class 2C member 1
• Gene symbol: MAN2C1
• Synonyms (NCBI Gene): CDDG2, MAN6A8, MANA, MANA1
• Chromosome: 15
• Chromosome location: 15q24.2

miRNA

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
MIRT1127419	hsa-miR-4266	CLIP-seq
MIRT1127420	hsa-miR-4271	CLIP-seq
MIRT1127421	hsa-miR-4419b	CLIP-seq
MIRT1127422	hsa-miR-4478	CLIP-seq
MIRT1127423	hsa-miR-4505	CLIP-seq
MIRT1127424	hsa-miR-4667-5p	CLIP-seq
MIRT1127425	hsa-miR-4700-5p	CLIP-seq
MIRT1127426	hsa-miR-4725-3p	CLIP-seq
MIRT1127427	hsa-miR-4731-5p	CLIP-seq

Gene ontology (GO)

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
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006013	Process	Mannose metabolic process	IEA
GO:0009313	Process	Oligosaccharide catabolic process	IBA
GO:0009313	Process	Oligosaccharide catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 154580
• HGNC: 6827
• e!Ensembl: ENSG00000140400

Protein

• 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

Pathways

KEGG:

Other glycan degradation

Reactome:

Lysosomal oligosaccharide catabolism

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Congenital disorder of deglycosylation 2	Likely pathogenic	rs143755898, rs763231900, rs190692217	RCV001843381 RCV001843382 RCV001843383

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Clear cell carcinoma of kidney	Uncertain significance	rs774156105	RCV005931000
Hepatocellular carcinoma	Uncertain significance	rs779157187	RCV005929102
Hypogonadotropic hypogonadism 27 without anosmia	Uncertain significance	rs1218914016	RCV002467370
MAN2C1-related disorder	Uncertain significance; Benign	rs140277288, rs369832470, rs7174408	RCV003410745 RCV003392829 RCV003982391
Sarcoma	Uncertain significance	rs774156105	RCV005931001

Associations from Text Mining
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
Thakker Donnai syndrome	Associate	35045343