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MAN2B1 (mannosidase alpha class 2B member 1)

Identity

Alias_namesMANB
mannosidase, alpha, class 2B, member 1
Alias_symbol (synonym)LAMAN
Other alias
HGNC (Hugo) MAN2B1
LocusID (NCBI) 4125
Atlas_Id 68780
Location 19p13.13  [Link to chromosome band 19p13]
Location_base_pair Starts at 12646508 and ends at 12666777 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ABR (17p13.3) / MAN2B1 (19p13.2)MAN2B1 (19p13.2) / MAN2B1 (19p13.2)MAN2B1 (19p13.2) / NDUFB11 (Xp11.23)
MAN2B1 (19p13.2) / RNASEH2A (19p13.2)

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)MAN2B1   6826
Cards
Entrez_Gene (NCBI)MAN2B1  4125  mannosidase alpha class 2B member 1
AliasesLAMAN; MANB
GeneCards (Weizmann)MAN2B1
Ensembl hg19 (Hinxton)ENSG00000104774 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104774 [Gene_View]  chr19:12646508-12666777 [Contig_View]  MAN2B1 [Vega]
ICGC DataPortalENSG00000104774
TCGA cBioPortalMAN2B1
AceView (NCBI)MAN2B1
Genatlas (Paris)MAN2B1
WikiGenes4125
SOURCE (Princeton)MAN2B1
Genetics Home Reference (NIH)MAN2B1
Genomic and cartography
GoldenPath hg38 (UCSC)MAN2B1  -     chr19:12646508-12666777 -  19p13.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAN2B1  -     19p13.13   [Description]    (hg19-Feb_2009)
EnsemblMAN2B1 - 19p13.13 [CytoView hg19]  MAN2B1 - 19p13.13 [CytoView hg38]
Mapping of homologs : NCBIMAN2B1 [Mapview hg19]  MAN2B1 [Mapview hg38]
OMIM248500   609458   
Gene and transcription
Genbank (Entrez)AB209921 AK291572 AK303418 AU127707 AU128464
RefSeq transcript (Entrez)NM_000528 NM_001173498
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MAN2B1
Cluster EST : UnigeneHs.657204 [ NCBI ]
CGAP (NCI)Hs.657204
Alternative Splicing GalleryENSG00000104774
Gene ExpressionMAN2B1 [ NCBI-GEO ]   MAN2B1 [ EBI - ARRAY_EXPRESS ]   MAN2B1 [ SEEK ]   MAN2B1 [ MEM ]
Gene Expression Viewer (FireBrowse)MAN2B1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4125
GTEX Portal (Tissue expression)MAN2B1
Human Protein AtlasENSG00000104774-MAN2B1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00754   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00754  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00754
Splice isoforms : SwissVarO00754
Catalytic activity : Enzyme3.2.1.24 [ Enzyme-Expasy ]   3.2.1.243.2.1.24 [ IntEnz-EBI ]   3.2.1.24 [ BRENDA ]   3.2.1.24 [ KEGG ]   
PhosPhoSitePlusO00754
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)MAN2B1
DMDM Disease mutations4125
Blocks (Seattle)MAN2B1
SuperfamilyO00754
Human Protein Atlas [tissue]ENSG00000104774-MAN2B1 [tissue]
Peptide AtlasO00754
HPRD02007
IPIIPI00012989   IPI00925850   IPI00644131   
Protein Interaction databases
DIP (DOE-UCLA)O00754
IntAct (EBI)O00754
FunCoupENSG00000104774
BioGRIDMAN2B1
STRING (EMBL)MAN2B1
ZODIACMAN2B1
Ontologies - Pathways
QuickGOO00754
Ontology : AmiGOalpha-mannosidase activity  alpha-mannosidase activity  extracellular region  extracellular space  mannose metabolic process  cellular protein modification process  protein deglycosylation  zinc ion binding  oligosaccharide catabolic process  carbohydrate binding  azurophil granule lumen  lysosomal lumen  neutrophil degranulation  extracellular exosome  
Ontology : EGO-EBIalpha-mannosidase activity  alpha-mannosidase activity  extracellular region  extracellular space  mannose metabolic process  cellular protein modification process  protein deglycosylation  zinc ion binding  oligosaccharide catabolic process  carbohydrate binding  azurophil granule lumen  lysosomal lumen  neutrophil degranulation  extracellular exosome  
Pathways : BIOCARTASteps in the Glycosylation of Mammalian N-linked Oligosaccarides [Genes]    ER?associated degradation (ERAD) Pathway [Genes]   
Pathways : KEGGOther glycan degradation    Lysosome   
NDEx NetworkMAN2B1
Atlas of Cancer Signalling NetworkMAN2B1
Wikipedia pathwaysMAN2B1
Orthology - Evolution
OrthoDB4125
GeneTree (enSembl)ENSG00000104774
Phylogenetic Trees/Animal Genes : TreeFamMAN2B1
HOVERGENO00754
HOGENOMO00754
Homologs : HomoloGeneMAN2B1
Homology/Alignments : Family Browser (UCSC)MAN2B1
Gene fusions - Rearrangements
Tumor Fusion PortalMAN2B1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAN2B1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAN2B1
dbVarMAN2B1
ClinVarMAN2B1
1000_GenomesMAN2B1 
Exome Variant ServerMAN2B1
ExAC (Exome Aggregation Consortium)ENSG00000104774
GNOMAD BrowserENSG00000104774
Genetic variants : HAPMAP4125
Genomic Variants (DGV)MAN2B1 [DGVbeta]
DECIPHERMAN2B1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMAN2B1 
Mutations
ICGC Data PortalMAN2B1 
TCGA Data PortalMAN2B1 
Broad Tumor PortalMAN2B1
OASIS PortalMAN2B1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMAN2B1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMAN2B1
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch MAN2B1
DgiDB (Drug Gene Interaction Database)MAN2B1
DoCM (Curated mutations)MAN2B1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MAN2B1 (select a term)
intoGenMAN2B1
Cancer3DMAN2B1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM248500    609458   
Orphanet21366    21367   
DisGeNETMAN2B1
MedgenMAN2B1
Genetic Testing Registry MAN2B1
NextProtO00754 [Medical]
TSGene4125
GENETestsMAN2B1
Target ValidationMAN2B1
Huge Navigator MAN2B1 [HugePedia]
snp3D : Map Gene to Disease4125
BioCentury BCIQMAN2B1
ClinGenMAN2B1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4125
Chemical/Pharm GKB GenePA30575
Clinical trialMAN2B1
Miscellaneous
canSAR (ICR)MAN2B1 (select the gene name)
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMAN2B1
EVEXMAN2B1
GoPubMedMAN2B1
iHOPMAN2B1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 13:39:02 CET 2017

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