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MVB12B (multivesicular body subunit 12B)

Identity

Alias_namesC9orf28
FAM125B
chromosome 9 open reading frame 28
family with sequence similarity 125, member B
Alias_symbol (synonym)FLJ00001
Other alias
HGNC (Hugo) MVB12B
LocusID (NCBI) 89853
Atlas_Id 70588
Location 9q33.3  [Link to chromosome band 9q33]
Location_base_pair Starts at 129089123 and ends at 129159912 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MVB12B (9q33.3) / TMC1 (9q21.13)RALGPS1 (9q33.3) / MVB12B (9q33.3)

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)MVB12B   23368
Cards
Entrez_Gene (NCBI)MVB12B  89853  multivesicular body subunit 12B
AliasesC9orf28; FAM125B
GeneCards (Weizmann)MVB12B
Ensembl hg19 (Hinxton)ENSG00000196814 [Gene_View]  chr9:129089123-129159912 [Contig_View]  MVB12B [Vega]
Ensembl hg38 (Hinxton)ENSG00000196814 [Gene_View]  chr9:129089123-129159912 [Contig_View]  MVB12B [Vega]
ICGC DataPortalENSG00000196814
TCGA cBioPortalMVB12B
AceView (NCBI)MVB12B
Genatlas (Paris)MVB12B
WikiGenes89853
SOURCE (Princeton)MVB12B
Genetics Home Reference (NIH)MVB12B
Genomic and cartography
GoldenPath hg19 (UCSC)MVB12B  -     chr9:129089123-129159912 +  9q33.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MVB12B  -     9q33.3   [Description]    (hg38-Dec_2013)
EnsemblMVB12B - 9q33.3 [CytoView hg19]  MVB12B - 9q33.3 [CytoView hg38]
Mapping of homologs : NCBIMVB12B [Mapview hg19]  MVB12B [Mapview hg38]
Gene and transcription
Genbank (Entrez)AJ420437 AK000001 AK024432 AK024441 AK293740
RefSeq transcript (Entrez)NM_001011703 NM_033446
RefSeq genomic (Entrez)NC_000009 NC_018920 NG_029787 NT_008470 NW_004929366
Consensus coding sequences : CCDS (NCBI)MVB12B
Cluster EST : UnigeneHs.162659 [ NCBI ]
CGAP (NCI)Hs.162659
Alternative Splicing GalleryENSG00000196814
Gene ExpressionMVB12B [ NCBI-GEO ]   MVB12B [ EBI - ARRAY_EXPRESS ]   MVB12B [ SEEK ]   MVB12B [ MEM ]
Gene Expression Viewer (FireBrowse)MVB12B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)89853
GTEX Portal (Tissue expression)MVB12B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H7P6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H7P6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H7P6
Splice isoforms : SwissVarQ9H7P6
PhosPhoSitePlusQ9H7P6
Domaine pattern : Prosite (Expaxy)MABP (PS51498)    UMA (PS51497)   
Domains : Interpro (EBI)FAM125    MABP    UMA   
Domain families : Pfam (Sanger)DUF2464 (PF10240)   
Domain families : Pfam (NCBI)pfam10240   
Conserved Domain (NCBI)MVB12B
DMDM Disease mutations89853
Blocks (Seattle)MVB12B
PDB (SRS)3TOW   
PDB (PDBSum)3TOW   
PDB (IMB)3TOW   
PDB (RSDB)3TOW   
Structural Biology KnowledgeBase3TOW   
SCOP (Structural Classification of Proteins)3TOW   
CATH (Classification of proteins structures)3TOW   
SuperfamilyQ9H7P6
Human Protein AtlasENSG00000196814
Peptide AtlasQ9H7P6
HPRD12952
IPIIPI00552643   IPI00022918   IPI00644104   IPI00922942   IPI00386125   
Protein Interaction databases
DIP (DOE-UCLA)Q9H7P6
IntAct (EBI)Q9H7P6
FunCoupENSG00000196814
BioGRIDMVB12B
STRING (EMBL)MVB12B
ZODIACMVB12B
Ontologies - Pathways
QuickGOQ9H7P6
Ontology : AmiGOESCRT I complex  protein binding  nucleus  early endosome  late endosome  cytosol  plasma membrane  lipid binding  protein transport  virus maturation  late endosome membrane  vesicle  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  
Ontology : EGO-EBIESCRT I complex  protein binding  nucleus  early endosome  late endosome  cytosol  plasma membrane  lipid binding  protein transport  virus maturation  late endosome membrane  vesicle  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  
Pathways : KEGGEndocytosis   
NDEx NetworkMVB12B
Atlas of Cancer Signalling NetworkMVB12B
Wikipedia pathwaysMVB12B
Orthology - Evolution
OrthoDB89853
GeneTree (enSembl)ENSG00000196814
Phylogenetic Trees/Animal Genes : TreeFamMVB12B
HOVERGENQ9H7P6
HOGENOMQ9H7P6
Homologs : HomoloGeneMVB12B
Homology/Alignments : Family Browser (UCSC)MVB12B
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMVB12B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MVB12B
dbVarMVB12B
ClinVarMVB12B
1000_GenomesMVB12B 
Exome Variant ServerMVB12B
ExAC (Exome Aggregation Consortium)MVB12B (select the gene name)
Genetic variants : HAPMAP89853
Genomic Variants (DGV)MVB12B [DGVbeta]
DECIPHER (Syndromes)9:129089123-129159912  ENSG00000196814
CONAN: Copy Number AnalysisMVB12B 
Mutations
ICGC Data PortalMVB12B 
TCGA Data PortalMVB12B 
Broad Tumor PortalMVB12B
OASIS PortalMVB12B [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDMVB12B
BioMutasearch MVB12B
DgiDB (Drug Gene Interaction Database)MVB12B
DoCM (Curated mutations)MVB12B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MVB12B (select a term)
intoGenMVB12B
Cancer3DMVB12B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenMVB12B
Genetic Testing Registry MVB12B
NextProtQ9H7P6 [Medical]
TSGene89853
GENETestsMVB12B
Huge Navigator MVB12B [HugePedia]
snp3D : Map Gene to Disease89853
BioCentury BCIQMVB12B
ClinGenMVB12B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD89853
Chemical/Pharm GKB GenePA162385827
Clinical trialMVB12B
Miscellaneous
canSAR (ICR)MVB12B (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMVB12B
EVEXMVB12B
GoPubMedMVB12B
iHOPMVB12B
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 12:34:12 CET 2017

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