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MAN2A1 (mannosidase alpha class 2A member 1)

Identity

Alias_namesMANA2
mannosidase, alpha, class 2A, member 1
Alias_symbol (synonym)GOLIM7
Other aliasAMan II
MANII
HGNC (Hugo) MAN2A1
LocusID (NCBI) 4124
Atlas_Id 68778
Location 5q21.3  [Link to chromosome band 5q21]
Location_base_pair Starts at 109689366 and ends at 109869625 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MAN2A1 (5q21.3) / CDK14 (7q21.13)MAN2A1 (5q21.3) / KCNH8 (3p24.3)RPL27A (11p15.4) / MAN2A1 (5q21.3)

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)MAN2A1   6824
Cards
Entrez_Gene (NCBI)MAN2A1  4124  mannosidase alpha class 2A member 1
AliasesAMan; GOLIM7; MANA2; MANII
GeneCards (Weizmann)MAN2A1
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr5:109689366-109869625 [Contig_View]  MAN2A1 [Vega]
TCGA cBioPortalMAN2A1
AceView (NCBI)MAN2A1
Genatlas (Paris)MAN2A1
WikiGenes4124
SOURCE (Princeton)MAN2A1
Genetics Home Reference (NIH)MAN2A1
Genomic and cartography
GoldenPath hg38 (UCSC)MAN2A1  -     chr5:109689366-109869625 +  5q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAN2A1  -     5q21.3   [Description]    (hg19-Feb_2009)
EnsemblMAN2A1 - 5q21.3 [CytoView hg19]  MAN2A1 - 5q21.3 [CytoView hg38]
Mapping of homologs : NCBIMAN2A1 [Mapview hg19]  MAN2A1 [Mapview hg38]
OMIM154582   
Gene and transcription
Genbank (Entrez)AK314090 AL833486 BC031659 BC043416 BC111062
RefSeq transcript (Entrez)NM_002372
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MAN2A1
Cluster EST : UnigeneHs.432822 [ NCBI ]
CGAP (NCI)Hs.432822
Gene ExpressionMAN2A1 [ NCBI-GEO ]   MAN2A1 [ EBI - ARRAY_EXPRESS ]   MAN2A1 [ SEEK ]   MAN2A1 [ MEM ]
Gene Expression Viewer (FireBrowse)MAN2A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4124
GTEX Portal (Tissue expression)MAN2A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16706   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16706  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16706
Splice isoforms : SwissVarQ16706
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 ]   
PhosPhoSitePlusQ16706
Domains : Interpro (EBI)Gal_mutarotase_SF_dom    Glyco_hydro/deAcase_b/a-brl    Glyco_hydro_38/57_N    Glyco_hydro_38_C    Glyco_hydro_38_cen    Glyco_hydro_38_N    Glyco_hydro_57/38_cen    Glyco_hydro_b   
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)MAN2A1
DMDM Disease mutations4124
Blocks (Seattle)MAN2A1
SuperfamilyQ16706
Peptide AtlasQ16706
HPRD01110
IPIIPI00003802   
Protein Interaction databases
DIP (DOE-UCLA)Q16706
IntAct (EBI)Q16706
BioGRIDMAN2A1
STRING (EMBL)MAN2A1
ZODIACMAN2A1
Ontologies - Pathways
QuickGOQ16706
Ontology : AmiGOGolgi membrane  Golgi membrane  in utero embryonic development  liver development  alpha-mannosidase activity  mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity  extracellular space  cis-Golgi network  mannose metabolic process  protein glycosylation  N-glycan processing  protein deglycosylation  mitochondrion organization  vacuole organization  respiratory gaseous exchange  zinc ion binding  membrane  integral component of membrane  hydrolase activity, hydrolyzing N-glycosyl compounds  carbohydrate binding  lung alveolus development  positive regulation of neurogenesis  retina morphogenesis in camera-type eye  extracellular exosome  
Ontology : EGO-EBIGolgi membrane  Golgi membrane  in utero embryonic development  liver development  alpha-mannosidase activity  mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity  extracellular space  cis-Golgi network  mannose metabolic process  protein glycosylation  N-glycan processing  protein deglycosylation  mitochondrion organization  vacuole organization  respiratory gaseous exchange  zinc ion binding  membrane  integral component of membrane  hydrolase activity, hydrolyzing N-glycosyl compounds  carbohydrate binding  lung alveolus development  positive regulation of neurogenesis  retina morphogenesis in camera-type eye  extracellular exosome  
Pathways : KEGGN-Glycan biosynthesis   
NDEx NetworkMAN2A1
Atlas of Cancer Signalling NetworkMAN2A1
Wikipedia pathwaysMAN2A1
Orthology - Evolution
OrthoDB4124
Phylogenetic Trees/Animal Genes : TreeFamMAN2A1
HOVERGENQ16706
HOGENOMQ16706
Homologs : HomoloGeneMAN2A1
Homology/Alignments : Family Browser (UCSC)MAN2A1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAN2A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAN2A1
dbVarMAN2A1
ClinVarMAN2A1
1000_GenomesMAN2A1 
Exome Variant ServerMAN2A1
ExAC (Exome Aggregation Consortium)MAN2A1 (select the gene name)
Genetic variants : HAPMAP4124
Genomic Variants (DGV)MAN2A1 [DGVbeta]
DECIPHERMAN2A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMAN2A1 
Mutations
ICGC Data PortalMAN2A1 
TCGA Data PortalMAN2A1 
Broad Tumor PortalMAN2A1
OASIS PortalMAN2A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMAN2A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMAN2A1
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 MAN2A1
DgiDB (Drug Gene Interaction Database)MAN2A1
DoCM (Curated mutations)MAN2A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MAN2A1 (select a term)
intoGenMAN2A1
Cancer3DMAN2A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM154582   
Orphanet
MedgenMAN2A1
Genetic Testing Registry MAN2A1
NextProtQ16706 [Medical]
TSGene4124
GENETestsMAN2A1
Target ValidationMAN2A1
Huge Navigator MAN2A1 [HugePedia]
snp3D : Map Gene to Disease4124
BioCentury BCIQMAN2A1
ClinGenMAN2A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4124
Chemical/Pharm GKB GenePA30573
Clinical trialMAN2A1
Miscellaneous
canSAR (ICR)MAN2A1 (select the gene name)
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMAN2A1
EVEXMAN2A1
GoPubMedMAN2A1
iHOPMAN2A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:26:53 CEST 2017

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