Gene Gene information from NCBI Gene database.
Entrez ID 4122
Gene name Mannosidase alpha class 2A member 2
Gene symbol MAN2A2
Synonyms (NCBI Gene)
MANA2Xalpha-MIIx
Chromosome 15
Chromosome location 15q26.1
miRNA miRNA information provided by mirtarbase database.
235
miRTarBase ID miRNA Experiments Reference
MIRT024425 hsa-miR-215-5p Microarray 19074876
MIRT026963 hsa-miR-192-5p Microarray 19074876
MIRT042114 hsa-miR-484 CLASH 23622248
MIRT679229 hsa-miR-6813-3p HITS-CLIP 23824327
MIRT679228 hsa-miR-1245a HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
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:0003824 Function Catalytic activity IEA
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
600988 6825 ENSG00000196547
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P49641
Protein name Alpha-mannosidase 2x (EC 3.2.1.114) (Alpha-mannosidase IIx) (Man IIx) (Mannosidase alpha class 2A member 2) (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 765 970 Glycosyl hydrolases family 38 C-terminal domain Domain
Sequence
MKLKKQVTVCGAAIFCVAVFSLYLMLDRVQHDPTRHQNGGNFPRSQISVLQNRIEQLEQL
LEENHEIISHIKDSVLELTANAEGPPAMLPYYTVNGSWVVPPEPRPSFFSISPQDCQFAL
GGRGQKPELQMLTVSEELPFDNVDGGVWRQGFDISYDPHDWDAEDLQVFVVPHSHNDPGW
IKTFDKYYTEQTQHILNSMVSKLQEDPRRRFLWAEVSFFAKWWDNINVQKRAAVRRLVGN
GQLEIATGGWVMPDEANSHYFALIDQLIEGHQWLERNLGATPRSGWAVDPFGYSSTMPYL
LRRANLTSMLIQRVHYAIKKHFAATHSLEFMWRQTWDSDSSTDIFCHMMPFYSYDVPHTC
GPDPKICCQFDFKRLPGGRINCPWKVPPRAITEANVAERAALLLDQYRKKSQLFRSNVLL
VPLGDDFRYDKPQEWDAQFFNYQRLFDFFNSRPNLHVQAQFGTLSDYFDALYKRTGVEPG
ARPPGFPVLSGDFFSYA
DREDHYWTGYYTSRPFYKSLDRVLEAHLRGAEVLYSLAAAHAR
RSGLAGRYPLSDFTLLTEARRTLGLFQHHDAITGTAKEAVVVDYGVRLLRSLVNLKQVII
HAAHYL
VLGDKETYHFDPEAPFLQVDDTRLSHDALPERTVIQLDSSPRFVVLFNPLEQER
FSMVSLLVNSPRVRVLSEEGQPLAVQISAHWSSATEAVPDVYQVSVPVRLPALGLGVLQL
QLGLDGHRTLPSSVRIYLHGRQLSVSRHEAFPLRVIDSGTSDFALSNRYMQVWFSGLTGL
LKSIRRVDEEHEQQVDMQVLVYGTRTSKDKSGAYLFLPDGEAKPYVPKEPPVLRVTEGPF
FSEVVAYYEHIHQAVRLYNLPGVEGLSLDISSLVDIRDYVNKELALHIHTDIDSQGIFFT
DLNGFQVQPRRYLKKLPLQANFYPMPVMAYIQDAQKRLTLHTAQALGVSSLKDGQLEVIL
DRRLMQDDNR
GLGQGLKDNKRTCNRFRLLLERRTVGSEVQDSHSTSYPSLLSHLTSMYLN
APALALPVARMQLPGPGLRSFHPLASSLPCDFHLLNLRTLQAEEDTLPSAETALILHRKG
FDCGLEAKNLGFNCTTSQGKVALGSLFHGLDVVFLQPTSLTLLYPLASPSNSTDVYLEPM
EIATFRLRLG
Sequence length 1150
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.).
6
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
Aganglionic megacolon Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION ClinGen
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DISORDER OF GLYCOSYLATION GenCC
★★☆☆☆
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
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder GWASDB_DG 18839057
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder GWASCAT_DG 18839057
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Cholangiocarcinoma Pubtator 33141432 Associate
★☆☆☆☆
Found in Text Mining only
Chronobiology Disorders Chronobiology disorder Pubtator 35163208 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 17986135 Associate
★☆☆☆☆
Found in Text Mining only
Myocardial Infarction Myocardial infarction Pubtator 33836805 Associate
★☆☆☆☆
Found in Text Mining only