Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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4124 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Mannosidase alpha class 2A member 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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MAN2A1 |
SynonymsGene synonyms aliases
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AMan II, GOLIM7, MANA2, MANII |
ChromosomeChromosome number
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5 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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5q21.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a syste |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q16706 |
Protein name |
Alpha-mannosidase 2 (EC 3.2.1.114) (Golgi alpha-mannosidase II) (AMan II) (Man II) (Mannosidase alpha class 2A member 1) (Mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase) |
Protein function |
Catalyzes the first committed step in the biosynthesis of complex N-glycans. It controls conversion of high mannose to complex N-glycans; the final hydrolytic step in the N-glycan maturation pathway. |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF01074 |
Glyco_hydro_38N |
167 → 497 |
Glycosyl hydrolases family 38 N-terminal domain |
Domain |
PF09261 |
Alpha-mann_mid |
502 → 606 |
Alpha mannosidase middle domain |
Domain |
PF07748 |
Glyco_hydro_38C |
760 → 964 |
Glycosyl hydrolases family 38 C-terminal domain |
Domain |
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Sequence |
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Sequence length |
1144 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
30285260, 25056061, 29483656, 26198764, 31268507, 28991256 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Diabetic retinopathy |
Diabetic Retinopathy |
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30487263 |
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