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MBD5 (methyl-CpG binding domain protein 5)

Identity

Alias_symbol (synonym)FLJ11113
KIAA1461
Other aliasMRD1
HGNC (Hugo) MBD5
LocusID (NCBI) 55777
Atlas_Id 68828
Location 2q23.1  [Link to chromosome band 2q23]
Location_base_pair Starts at 148021011 and ends at 148513475 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EPC2 (2q23.1) / MBD5 (2q23.1)GNAI2 (3p21.31) / MBD5 (2q23.1)MBD5 (2q23.1) / ACVR2A (2q22.3)
MBD5 (2q23.1) / EPC2 (2q23.1)MBD5 (2q23.1) / GNAI2 (3p21.31)MBD5 (2q23.1) / IRG1 (13q22.3)
MBD5 (2q23.1) / MIA3 (1q41)MCTP1 (5q15) / MBD5 (2q23.1)R3HDM1 (2q21.3) / MBD5 (2q23.1)
MBD5 ACVR2AMBD5 IRG1

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)MBD5   20444
Cards
Entrez_Gene (NCBI)MBD5  55777  methyl-CpG binding domain protein 5
AliasesMRD1
GeneCards (Weizmann)MBD5
Ensembl hg19 (Hinxton)ENSG00000204406 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204406 [Gene_View]  chr2:148021011-148513475 [Contig_View]  MBD5 [Vega]
ICGC DataPortalENSG00000204406
TCGA cBioPortalMBD5
AceView (NCBI)MBD5
Genatlas (Paris)MBD5
WikiGenes55777
SOURCE (Princeton)MBD5
Genetics Home Reference (NIH)MBD5
Genomic and cartography
GoldenPath hg38 (UCSC)MBD5  -     chr2:148021011-148513475 +  2q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MBD5  -     2q23.1   [Description]    (hg19-Feb_2009)
EnsemblMBD5 - 2q23.1 [CytoView hg19]  MBD5 - 2q23.1 [CytoView hg38]
Mapping of homologs : NCBIMBD5 [Mapview hg19]  MBD5 [Mapview hg38]
OMIM156200   611472   
Gene and transcription
Genbank (Entrez)AB040894 AK055079 AK090496 AK304424 BC014534
RefSeq transcript (Entrez)NM_018328
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MBD5
Cluster EST : UnigeneHs.458312 [ NCBI ]
CGAP (NCI)Hs.458312
Alternative Splicing GalleryENSG00000204406
Gene ExpressionMBD5 [ NCBI-GEO ]   MBD5 [ EBI - ARRAY_EXPRESS ]   MBD5 [ SEEK ]   MBD5 [ MEM ]
Gene Expression Viewer (FireBrowse)MBD5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55777
GTEX Portal (Tissue expression)MBD5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P267   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P267  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P267
Splice isoforms : SwissVarQ9P267
PhosPhoSitePlusQ9P267
Domaine pattern : Prosite (Expaxy)MBD (PS50982)    PWWP (PS50812)   
Domains : Interpro (EBI)DNA-bd_dom    Methyl_CpG_DNA-bd    PWWP_dom   
Domain families : Pfam (Sanger)PWWP (PF00855)   
Domain families : Pfam (NCBI)pfam00855   
Domain families : Smart (EMBL)MBD (SM00391)  
Conserved Domain (NCBI)MBD5
DMDM Disease mutations55777
Blocks (Seattle)MBD5
SuperfamilyQ9P267
Human Protein AtlasENSG00000204406
Peptide AtlasQ9P267
HPRD11295
IPIIPI00783294   IPI00428403   IPI00879134   IPI00968064   
Protein Interaction databases
DIP (DOE-UCLA)Q9P267
IntAct (EBI)Q9P267
FunCoupENSG00000204406
BioGRIDMBD5
STRING (EMBL)MBD5
ZODIACMBD5
Ontologies - Pathways
QuickGOQ9P267
Ontology : AmiGODNA binding  chromatin binding  nucleus  nucleoplasm  nervous system development  chromocenter  protein deubiquitination  midbody  regulation of multicellular organism growth  glucose homeostasis  single-organism behavior  positive regulation of growth hormone receptor signaling pathway  extracellular exosome  
Ontology : EGO-EBIDNA binding  chromatin binding  nucleus  nucleoplasm  nervous system development  chromocenter  protein deubiquitination  midbody  regulation of multicellular organism growth  glucose homeostasis  single-organism behavior  positive regulation of growth hormone receptor signaling pathway  extracellular exosome  
NDEx NetworkMBD5
Atlas of Cancer Signalling NetworkMBD5
Wikipedia pathwaysMBD5
Orthology - Evolution
OrthoDB55777
GeneTree (enSembl)ENSG00000204406
Phylogenetic Trees/Animal Genes : TreeFamMBD5
HOVERGENQ9P267
HOGENOMQ9P267
Homologs : HomoloGeneMBD5
Homology/Alignments : Family Browser (UCSC)MBD5
Gene fusions - Rearrangements
Fusion: TCGAMBD5 ACVR2A
Fusion: TCGAMBD5 IRG1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMBD5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MBD5
dbVarMBD5
ClinVarMBD5
1000_GenomesMBD5 
Exome Variant ServerMBD5
ExAC (Exome Aggregation Consortium)MBD5 (select the gene name)
Genetic variants : HAPMAP55777
Genomic Variants (DGV)MBD5 [DGVbeta]
DECIPHERMBD5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMBD5 
Mutations
ICGC Data PortalMBD5 
TCGA Data PortalMBD5 
Broad Tumor PortalMBD5
OASIS PortalMBD5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMBD5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMBD5
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MBD5
DgiDB (Drug Gene Interaction Database)MBD5
DoCM (Curated mutations)MBD5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MBD5 (select a term)
intoGenMBD5
Cancer3DMBD5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM156200    611472   
Orphanet18028    19125   
MedgenMBD5
Genetic Testing Registry MBD5
NextProtQ9P267 [Medical]
TSGene55777
GENETestsMBD5
Huge Navigator MBD5 [HugePedia]
snp3D : Map Gene to Disease55777
BioCentury BCIQMBD5
ClinGenMBD5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55777
Chemical/Pharm GKB GenePA134924244
Clinical trialMBD5
Miscellaneous
canSAR (ICR)MBD5 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMBD5
EVEXMBD5
GoPubMedMBD5
iHOPMBD5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 11:37:56 CEST 2017

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