Gene Gene information from NCBI Gene database.
Entrez ID 149175
Gene name Mannosidase endo-alpha like
Gene symbol MANEAL
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p34.3
miRNA miRNA information provided by mirtarbase database.
414
miRTarBase ID miRNA Experiments Reference
MIRT050585 hsa-miR-20a-5p CLASH 23622248
MIRT713120 hsa-miR-6736-3p HITS-CLIP 19536157
MIRT687614 hsa-miR-106a-5p HITS-CLIP 23313552
MIRT687613 hsa-miR-106b-5p HITS-CLIP 23313552
MIRT687612 hsa-miR-17-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0004559 Function Alpha-mannosidase activity IBA
GO:0004559 Function Alpha-mannosidase activity IEA
GO:0005794 Component Golgi apparatus IEA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620919 26452 ENSG00000185090
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VSG8
Protein name Glycoprotein endo-alpha-1,2-mannosidase-like protein (EC 3.2.1.-)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16317 Glyco_hydro_99 100 450 Glycosyl hydrolase family 99 Domain
Sequence
Sequence length 457
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
MANEAL-associated disorder Likely pathogenic rs1414490641 RCV001254029
★★★★☆
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
POST-TRAUMATIC STRESS DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Brain Diseases Associate 28612835
★☆☆☆☆
Found in Text Mining only
Iron Deficiencies Associate 28612835
★☆☆☆☆
Found in Text Mining only
Lysosomal Storage Diseases Associate 28612835
★☆☆☆☆
Found in Text Mining only
Neuroaxonal Dystrophies Associate 28612835
★☆☆☆☆
Found in Text Mining only
Neurodegenerative Diseases Associate 28612835
★☆☆☆☆
Found in Text Mining only
Neurologic Manifestations Associate 28612835
★☆☆☆☆
Found in Text Mining only
Osteopetrosis lethal Associate 28612835
★☆☆☆☆
Found in Text Mining only