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MAN2A2 (mannosidase, alpha, class 2A, member 2)

Identity

Alias_namesmannosidase, alpha, class 2A, member 2
Alias_symbol (synonym)MANA2X
HsT19662
Other alias
HGNC (Hugo) MAN2A2
LocusID (NCBI) 4122
Atlas_Id 68779
Location 15q26.1  [Link to chromosome band 15q26]
Location_base_pair Starts at 91447420 and ends at 91465815 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ABCC10 (6p21.1) / MAN2A2 (15q26.1)PLP1 (Xq22.2) / MAN2A2 (15q26.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MAN2A2   6825
Cards
Entrez_Gene (NCBI)MAN2A2  4122  mannosidase, alpha, class 2A, member 2
AliasesMANA2X
GeneCards (Weizmann)MAN2A2
Ensembl hg19 (Hinxton)ENSG00000196547 [Gene_View]  chr15:91447420-91465815 [Contig_View]  MAN2A2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000196547 [Gene_View]  chr15:91447420-91465815 [Contig_View]  MAN2A2 [Vega]
ICGC DataPortalENSG00000196547
TCGA cBioPortalMAN2A2
AceView (NCBI)MAN2A2
Genatlas (Paris)MAN2A2
WikiGenes4122
SOURCE (Princeton)MAN2A2
Genetics Home Reference (NIH)MAN2A2
Genomic and cartography
GoldenPath hg19 (UCSC)MAN2A2  -     chr15:91447420-91465815 +  15q26.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MAN2A2  -     15q26.1   [Description]    (hg38-Dec_2013)
EnsemblMAN2A2 - 15q26.1 [CytoView hg19]  MAN2A2 - 15q26.1 [CytoView hg38]
Mapping of homologs : NCBIMAN2A2 [Mapview hg19]  MAN2A2 [Mapview hg38]
OMIM600988   
Gene and transcription
Genbank (Entrez)AF116691 AI361497 AI697595 AK289863 AK293799
RefSeq transcript (Entrez)NM_006122
RefSeq genomic (Entrez)NC_000015 NC_018926 NT_010194 NW_004929399
Consensus coding sequences : CCDS (NCBI)MAN2A2
Cluster EST : UnigeneHs.116459 [ NCBI ]
CGAP (NCI)Hs.116459
Alternative Splicing GalleryENSG00000196547
Gene ExpressionMAN2A2 [ NCBI-GEO ]   MAN2A2 [ EBI - ARRAY_EXPRESS ]   MAN2A2 [ SEEK ]   MAN2A2 [ MEM ]
Gene Expression Viewer (FireBrowse)MAN2A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4122
GTEX Portal (Tissue expression)MAN2A2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP49641   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP49641  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP49641
Splice isoforms : SwissVarP49641
Catalytic activity : Enzyme3.2.1.114 [ Enzyme-Expasy ]   3.2.1.1143.2.1.114 [ IntEnz-EBI ]   3.2.1.114 [ BRENDA ]   3.2.1.114 [ KEGG ]   
PhosPhoSitePlusP49641
Domains : Interpro (EBI)Gal_mutarotase_SF_dom    Glyco_hydro/deAcase_b/a-brl    Glyco_hydro_13_b    Glyco_hydro_38/57_N    Glyco_hydro_38_C    Glyco_hydro_38_cen    Glyco_hydro_38_N    Glyco_hydro_57/38_cen   
Domain families : Pfam (Sanger)Alpha-mann_mid (PF09261)    Glyco_hydro_38 (PF01074)    Glyco_hydro_38C (PF07748)   
Domain families : Pfam (NCBI)pfam09261    pfam01074    pfam07748   
Domain families : Smart (EMBL)Alpha-mann_mid (SM00872)  
Conserved Domain (NCBI)MAN2A2
DMDM Disease mutations4122
Blocks (Seattle)MAN2A2
SuperfamilyP49641
Human Protein AtlasENSG00000196547
Peptide AtlasP49641
HPRD02994
IPIIPI00027703   IPI00943037   IPI00220303   IPI01010124   IPI01017902   IPI00032259   
Protein Interaction databases
DIP (DOE-UCLA)P49641
IntAct (EBI)P49641
FunCoupENSG00000196547
BioGRIDMAN2A2
STRING (EMBL)MAN2A2
ZODIACMAN2A2
Ontologies - Pathways
QuickGOP49641
Ontology : AmiGOGolgi membrane  mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity  mannose metabolic process  zinc ion binding  integral component of membrane  hydrolase activity, hydrolyzing N-glycosyl compounds  protein N-linked glycosylation via asparagine  carbohydrate binding  post-translational protein modification  cellular protein metabolic process  
Ontology : EGO-EBIGolgi membrane  mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity  mannose metabolic process  zinc ion binding  integral component of membrane  hydrolase activity, hydrolyzing N-glycosyl compounds  protein N-linked glycosylation via asparagine  carbohydrate binding  post-translational protein modification  cellular protein metabolic process  
Pathways : BIOCARTASteps in the Glycosylation of Mammalian N-linked Oligosaccarides [Genes]    ERĝassociated degradation (ERAD) Pathway [Genes]   
Pathways : KEGGN-Glycan biosynthesis   
NDEx NetworkMAN2A2
Atlas of Cancer Signalling NetworkMAN2A2
Wikipedia pathwaysMAN2A2
Orthology - Evolution
OrthoDB4122
GeneTree (enSembl)ENSG00000196547
Phylogenetic Trees/Animal Genes : TreeFamMAN2A2
HOVERGENP49641
HOGENOMP49641
Homologs : HomoloGeneMAN2A2
Homology/Alignments : Family Browser (UCSC)MAN2A2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAN2A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAN2A2
dbVarMAN2A2
ClinVarMAN2A2
1000_GenomesMAN2A2 
Exome Variant ServerMAN2A2
ExAC (Exome Aggregation Consortium)MAN2A2 (select the gene name)
Genetic variants : HAPMAP4122
Genomic Variants (DGV)MAN2A2 [DGVbeta]
DECIPHER (Syndromes)15:91447420-91465815  ENSG00000196547
CONAN: Copy Number AnalysisMAN2A2 
Mutations
ICGC Data PortalMAN2A2 
TCGA Data PortalMAN2A2 
Broad Tumor PortalMAN2A2
OASIS PortalMAN2A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMAN2A2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMAN2A2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MAN2A2
DgiDB (Drug Gene Interaction Database)MAN2A2
DoCM (Curated mutations)MAN2A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MAN2A2 (select a term)
intoGenMAN2A2
Cancer3DMAN2A2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600988   
Orphanet
MedgenMAN2A2
Genetic Testing Registry MAN2A2
NextProtP49641 [Medical]
TSGene4122
GENETestsMAN2A2
Huge Navigator MAN2A2 [HugePedia]
snp3D : Map Gene to Disease4122
BioCentury BCIQMAN2A2
ClinGenMAN2A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4122
Chemical/Pharm GKB GenePA30574
Clinical trialMAN2A2
Miscellaneous
canSAR (ICR)MAN2A2 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMAN2A2
EVEXMAN2A2
GoPubMedMAN2A2
iHOPMAN2A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:27:37 CET 2017

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