Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79694
Gene name Gene Name - the full gene name approved by the HGNC.
Mannosidase endo-alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MANEA
Synonyms (NCBI Gene) Gene synonyms aliases
ENDO, hEndo
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q16.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612327 21072 ENSG00000172469
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Astrocytoma Pilocytic astrocytoma N/A N/A GWAS
Mental Depression Major depressive disorder N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anxiety Disorders Associate 24473444
Asthma Associate 25997986
Cocaine Related Disorders Associate 19255376
Mental Disorders Associate 24473444
Panic Disorder Associate 24473444
Paranoid Disorders Associate 18438686, 19255376, 24473444
Phobia Social Associate 24473444
Prostatic Neoplasms Associate 37008945