Gene Gene information from NCBI Gene database.
Entrez ID 4124
Gene name Mannosidase alpha class 2A member 1
Gene symbol MAN2A1
Synonyms (NCBI Gene)
AMan IIGOLIM7MANA2MANII
Chromosome 5
Chromosome location 5q21.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
208
miRTarBase ID miRNA Experiments Reference
MIRT002612 hsa-miR-124-3p Microarray 18668037
MIRT002612 hsa-miR-124-3p Microarray 15685193
MIRT045458 hsa-miR-149-5p CLASH 23622248
MIRT044543 hsa-miR-320a CLASH 23622248
MIRT621073 hsa-miR-4521 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0001701 Process In utero embryonic development IEA
GO:0001889 Process Liver development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
154582 6824 ENSG00000112893
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence
MKLSRQFTVFGSAIFCVVIFSLYLMLDRGHLDYPRNPRREGSFPQGQLSMLQEKIDHLER
LLAENNEIISNIRDSVINLSESVEDGPKSSQSNFSQGAGSHLLPSQLSLSVDTADCLFAS
QSGSHNSDVQMLDVYSLISFDNPDGGVWKQGFDITYESNEWDTEPLQVFVVPHSHNDPGW
LKTFNDYFRDKTQYIFNNMVLKLKEDSRRKFIWSEISYLSKWWDIIDIQKKDAVKSLIEN
GQLEIVTGGWVMPDEATPHYFALIDQLIEGHQWLENNIGVKPRSGWAIDPFGHSPTMAYL
LNRAGLSHMLIQRVHYAVKKHFALHKTLEFFWRQNWDLGSVTDILCHMMPFYSYDIPHTC
GPDPKICCQFDFKRLPGGRFGCPWGVPPETIHPGNVQSRARMLLDQYRKKSKLFRTKVLL
APLGDDFRYCEYTEWDLQFKNYQQLFDYMNSQSKFKVKIQFGTLSDFFDALDKADETQRD
KGQSMFPVLSGDFFTYA
DRDDHYWSGYFTSRPFYKRMDRIMESHLRAAEILYYFALRQAH
KYKINKFLSSSLYTALTEARRNLGLFQHHDAITGTAKDWVVVDYGTRLFHSLMVLEKIIG
NSAFLL
ILKDKLTYDSYSPDTFLEMDLKQKSQDSLPQKNIIRLSAEPRYLVVYNPLEQDR
ISLVSVYVSSPTVQVFSASGKPVEVQVSAVWDTANTISETAYEISFRAHIPPLGLKVYKI
LESASSNSHLADYVLYKNKVEDSGIFTIKNMINTEEGITLENSFVLLRFDQTGLMKQMMT
KEDGKHHEVNVQFSWYGTTIKRDKSGAYLFLPDGNAKPYVYTTPPFVRVTHGRIYSEVTC
FFDHVTHRVRLYHIQGIEGQSVEVSNIVDIRKVYNREIAMKISSDIKSQNRFYTDLNGYQ
IQPRMTLSKLPLQANVYPMTTMAYIQDAKHRLTLLSAQSLGVSSLNSGQIEVIMDRRLMQ
DDNR
GLEQGIQDNKITANLFRILLEKRSAVNTEEEKKSVSYPSLLSHITSSLMNHPVIPM
ANKFSSPTLELQGEFSPLQSSLPCDIHLVNLRTIQSKVGNGHSNEAALILHRKGFDCRFS
SKGTGLFCSTTQGKILVQKLLNKFIVESLTPSSLSLMHSPPGTQNISEINLSPMEISTFR
IQLR
Sequence length 1144
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  N-Glycan biosynthesis
Various types of N-glycan biosynthesis
Metabolic pathways
  Intra-Golgi traffic
Reactions specific to the complex N-glycan synthesis pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Anemia Dyserythropoietic Congenital Associate 19465480
★☆☆☆☆
Found in Text Mining only
Death Associate 25238935
★☆☆☆☆
Found in Text Mining only
Inflammation Associate 22545106
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus Systemic Associate 19465480
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Associate 25238935
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 32723834
★☆☆☆☆
Found in Text Mining only
Neurodegenerative Diseases Associate 22545106
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Associate 25238935, 34417538
★☆☆☆☆
Found in Text Mining only
Urinary Bladder Neoplasms Associate 25470275
★☆☆☆☆
Found in Text Mining only