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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Congenital disorder of deglycosylation 2	Likely pathogenic	rs143755898, rs763231900, rs190692217	RCV001843381 RCV001843382 RCV001843383	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadotropic hypogonadism 27 without anosmia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MAN2C1-related disorder	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
alpha-Mannosidosis	Alpha-Mannosidosis	GENOMICS_ENGLAND_DG	6220608		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	29915430		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	21556061		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	16735990	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35045343	Associate	★☆☆☆☆ Found in Text Mining only
EDICT syndrome	EDICT Syndrome	BEFREE	16735990		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	19018777		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19018777	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27355585		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35045343	Associate	★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	16735990	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	29915430		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21556061		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	29915430		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	29915430		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	29915430		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34148545	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	35045343, 37486637	Associate	★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	21508515		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21556061		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	21556061		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 29	Spinocerebellar ataxia	Pubtator	35045343	Associate	★☆☆☆☆ Found in Text Mining only