Gene Gene information from NCBI Gene database.
Entrez ID 79694
Gene name Mannosidase endo-alpha
Gene symbol MANEA
Synonyms (NCBI Gene)
ENDOhEndo
Chromosome 6
Chromosome location 6q16.1
Summary N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosacchar
miRNA miRNA information provided by mirtarbase database.
182
miRTarBase ID miRNA Experiments Reference
MIRT456988 hsa-miR-3120-3p PAR-CLIP 23592263
MIRT456986 hsa-miR-3125 PAR-CLIP 23592263
MIRT456987 hsa-miR-3916 PAR-CLIP 23592263
MIRT456985 hsa-miR-6859-5p PAR-CLIP 23592263
MIRT456984 hsa-miR-548p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0000139 Component Golgi membrane IDA 15760709
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0004559 Function Alpha-mannosidase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612327 21072 ENSG00000172469
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5SRI9
Protein name Glycoprotein endo-alpha-1,2-mannosidase (Endo-alpha mannosidase) (Endomannosidase) (hEndo) (EC 3.2.1.130) (Mandaselin)
PDB 6ZDC , 6ZDF , 6ZDK , 6ZDL , 6ZFA , 6ZFN , 6ZFQ , 6ZJ1 , 6ZJ5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16317 Glyco_hydro_99 98 448 Glycosyl hydrolase family 99 Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in the liver and kidney. Expressed at lower levels in muscle, pancreas, heart, placenta, lung and brain. {ECO:0000269|PubMed:15677381}.
Sequence
Sequence length 462
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    N-glycan trimming and elongation in the cis-Golgi
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANXIETY DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NASOPHARYNGEAL NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anxiety Disorders Anxiety Disorder BEFREE 24473444
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anxiety Disorders Anxiety disorder Pubtator 24473444 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma Pubtator 25997986 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 31589084
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23404494
★☆☆☆☆
Found in Text Mining only
Endometriosis Endometriosis BEFREE 26435386, 31758304
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 23404494
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 23404494
★☆☆☆☆
Found in Text Mining only
Mental disorders Mental Disorders BEFREE 24473444
★☆☆☆☆
Found in Text Mining only