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MVB12A (multivesicular body subunit 12A)

Identity

Alias_namesFAM125A
family with sequence similarity 125, member A
Alias_symbol (synonym)FLJ32495
Other aliasCFBP
HGNC (Hugo) MVB12A
LocusID (NCBI) 93343
Atlas_Id 70587
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 17405686 and ends at 17425339 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ELL (19p13.11) / MVB12A (19p13.11)

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)MVB12A   25153
Cards
Entrez_Gene (NCBI)MVB12A  93343  multivesicular body subunit 12A
AliasesCFBP; FAM125A
GeneCards (Weizmann)MVB12A
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr19:17405686-17425339 [Contig_View]  MVB12A [Vega]
TCGA cBioPortalMVB12A
AceView (NCBI)MVB12A
Genatlas (Paris)MVB12A
WikiGenes93343
SOURCE (Princeton)MVB12A
Genetics Home Reference (NIH)MVB12A
Genomic and cartography
GoldenPath hg38 (UCSC)MVB12A  -     chr19:17405686-17425339 +  19p13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MVB12A  -     19p13.11   [Description]    (hg19-Feb_2009)
EnsemblMVB12A - 19p13.11 [CytoView hg19]  MVB12A - 19p13.11 [CytoView hg38]
Mapping of homologs : NCBIMVB12A [Mapview hg19]  MVB12A [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK057057 AK289487 BC007883 BC011840 BG684013
RefSeq transcript (Entrez)NM_001304547 NM_138401
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MVB12A
Cluster EST : UnigeneHs.515243 [ NCBI ]
CGAP (NCI)Hs.515243
Gene ExpressionMVB12A [ NCBI-GEO ]   MVB12A [ EBI - ARRAY_EXPRESS ]   MVB12A [ SEEK ]   MVB12A [ MEM ]
Gene Expression Viewer (FireBrowse)MVB12A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)93343
GTEX Portal (Tissue expression)MVB12A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96EY5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96EY5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96EY5
Splice isoforms : SwissVarQ96EY5
PhosPhoSitePlusQ96EY5
Domaine pattern : Prosite (Expaxy)MABP (PS51498)    UMA (PS51497)   
Domains : Interpro (EBI)MABP    MVB12A/B    UMA   
Domain families : Pfam (Sanger)DUF2464 (PF10240)   
Domain families : Pfam (NCBI)pfam10240   
Conserved Domain (NCBI)MVB12A
DMDM Disease mutations93343
Blocks (Seattle)MVB12A
SuperfamilyQ96EY5
Peptide AtlasQ96EY5
HPRD14298
IPIIPI00744702   IPI00787031   IPI00788162   IPI00985207   IPI00979281   IPI00980463   IPI01009031   IPI00975862   
Protein Interaction databases
DIP (DOE-UCLA)Q96EY5
IntAct (EBI)Q96EY5
BioGRIDMVB12A
STRING (EMBL)MVB12A
ZODIACMVB12A
Ontologies - Pathways
QuickGOQ96EY5
Ontology : AmiGOESCRT I complex  ESCRT I complex  protein binding  nucleoplasm  Golgi apparatus  centrosome  cytosol  lipid binding  protein transport  macroautophagy  SH3 domain binding  virus maturation  late endosome membrane  vesicle  multivesicular body assembly  viral budding via host ESCRT complex  regulation of epidermal growth factor receptor signaling pathway  ubiquitin binding  ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway  positive regulation of viral process  extracellular exosome  regulation of viral budding via host ESCRT complex  
Ontology : EGO-EBIESCRT I complex  ESCRT I complex  protein binding  nucleoplasm  Golgi apparatus  centrosome  cytosol  lipid binding  protein transport  macroautophagy  SH3 domain binding  virus maturation  late endosome membrane  vesicle  multivesicular body assembly  viral budding via host ESCRT complex  regulation of epidermal growth factor receptor signaling pathway  ubiquitin binding  ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway  positive regulation of viral process  extracellular exosome  regulation of viral budding via host ESCRT complex  
Pathways : KEGGEndocytosis   
NDEx NetworkMVB12A
Atlas of Cancer Signalling NetworkMVB12A
Wikipedia pathwaysMVB12A
Orthology - Evolution
OrthoDB93343
Phylogenetic Trees/Animal Genes : TreeFamMVB12A
HOVERGENQ96EY5
HOGENOMQ96EY5
Homologs : HomoloGeneMVB12A
Homology/Alignments : Family Browser (UCSC)MVB12A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMVB12A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MVB12A
dbVarMVB12A
ClinVarMVB12A
1000_GenomesMVB12A 
Exome Variant ServerMVB12A
ExAC (Exome Aggregation Consortium)MVB12A (select the gene name)
Genetic variants : HAPMAP93343
Genomic Variants (DGV)MVB12A [DGVbeta]
DECIPHERMVB12A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMVB12A 
Mutations
ICGC Data PortalMVB12A 
TCGA Data PortalMVB12A 
Broad Tumor PortalMVB12A
OASIS PortalMVB12A [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDMVB12A
BioMutasearch MVB12A
DgiDB (Drug Gene Interaction Database)MVB12A
DoCM (Curated mutations)MVB12A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MVB12A (select a term)
intoGenMVB12A
Cancer3DMVB12A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenMVB12A
Genetic Testing Registry MVB12A
NextProtQ96EY5 [Medical]
TSGene93343
GENETestsMVB12A
Target ValidationMVB12A
Huge Navigator MVB12A [HugePedia]
snp3D : Map Gene to Disease93343
BioCentury BCIQMVB12A
ClinGenMVB12A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD93343
Chemical/Pharm GKB GenePA162385826
Clinical trialMVB12A
Miscellaneous
canSAR (ICR)MVB12A (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMVB12A
EVEXMVB12A
GoPubMedMVB12A
iHOPMVB12A
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 13:31:31 CEST 2017

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