Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4124
Gene name Gene Name - the full gene name approved by the HGNC.
Mannosidase alpha class 2A member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAN2A1
Synonyms (NCBI Gene) Gene synonyms aliases
AMan II, GOLIM7, MANA2, MANII
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA 21873635
GO:0000139 Component Golgi membrane TAS
GO:0001701 Process In utero embryonic development IEA
GO:0001889 Process Liver development IEA
GO:0004559 Function Alpha-mannosidase activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
154582 6824 ENSG00000112893
Protein
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
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
30285260, 25056061, 29483656, 26198764, 31268507, 28991256
Unknown
Disease term Disease name Evidence References Source
Colorectal Cancer Colorectal Cancer In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. GWAS, CBGDA
Hypothyroidism Hypothyroidism GWAS
Associations from Text Mining
Disease Name Relationship Type References
Anemia Dyserythropoietic Congenital Associate 19465480
Death Associate 25238935
Inflammation Associate 22545106
Lupus Erythematosus Systemic Associate 19465480
Neoplasm Metastasis Associate 25238935
Neoplasms Associate 32723834
Neurodegenerative Diseases Associate 22545106
Prostatic Neoplasms Associate 25238935, 34417538
Urinary Bladder Neoplasms Associate 25470275