Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

MBD5 (methyl-CpG binding domain protein 5)

Identity

Alias (NCBI)MRD1
HGNC (Hugo) MBD5
HGNC Alias symbFLJ11113
KIAA1461
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 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    methyl-CpG binding domain protein 5
AliasesMRD1
GeneCards (Weizmann)MBD5
Ensembl hg19 (Hinxton)ENSG00000204406 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204406 [Gene_View]  ENSG00000204406 [Sequence]  chr2:148021011-148513475 [Contig_View]  MBD5 [Vega]
ICGC DataPortalENSG00000204406
TCGA cBioPortalMBD5
AceView (NCBI)MBD5
Genatlas (Paris)MBD5
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)
GoldenPathMBD5 - 2q23.1 [CytoView hg19]  MBD5 - 2q23.1 [CytoView hg38]
ImmunoBaseENSG00000204406
Genome Data Viewer NCBIMBD5 [Mapview hg19]  
OMIM156200   611472   
Gene and transcription
Genbank (Entrez)AB040894 AK055079 AK090496 AK304424 BC014534
RefSeq transcript (Entrez)NM_001378120 NM_018328
Consensus coding sequences : CCDS (NCBI)MBD5
Gene ExpressionMBD5 [ NCBI-GEO ]   MBD5 [ EBI - ARRAY_EXPRESS ]   MBD5 [ SEEK ]   MBD5 [ MEM ]
Gene Expression Viewer (FireBrowse)MBD5 [ Firebrowse - Broad ]
GenevisibleExpression of MBD5 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55777
GTEX Portal (Tissue expression)MBD5
Human Protein AtlasENSG00000204406-MBD5 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9P267
Domaine pattern : Prosite (Expaxy)MBD (PS50982)    PWWP (PS50812)   
Domains : Interpro (EBI)DNA-bd_dom_sf    MBD5/MBD6    Methyl_CpG_DNA-bd    PWWP_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)MBD (SM00391)  
Conserved Domain (NCBI)MBD5
SuperfamilyQ9P267
AlphaFold pdb e-kbQ9P267   
Human Protein Atlas [tissue]ENSG00000204406-MBD5 [tissue]
HPRD11295
Protein Interaction databases
DIP (DOE-UCLA)Q9P267
IntAct (EBI)Q9P267
BioGRIDMBD5
STRING (EMBL)MBD5
ZODIACMBD5
Ontologies - Pathways
QuickGOQ9P267
Ontology : AmiGODNA binding  chromatin binding  chromatin binding  nucleus  nucleus  nucleoplasm  nucleoplasm  chromosome  nervous system development  chromocenter  chromocenter  protein deubiquitination  midbody  regulation of multicellular organism growth  glucose homeostasis  regulation of behavior  positive regulation of growth hormone receptor signaling pathway  extracellular exosome  
Ontology : EGO-EBIDNA binding  chromatin binding  chromatin binding  nucleus  nucleus  nucleoplasm  nucleoplasm  chromosome  nervous system development  chromocenter  chromocenter  protein deubiquitination  midbody  regulation of multicellular organism growth  glucose homeostasis  regulation of 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
Homologs : HomoloGeneMBD5
Homology/Alignments : Family Browser (UCSC)MBD5
Gene fusions - Rearrangements
Fusion : QuiverMBD5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMBD5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MBD5
dbVarMBD5
ClinVarMBD5
MonarchMBD5
1000_GenomesMBD5 
Exome Variant ServerMBD5
GNOMAD BrowserENSG00000204406
Varsome BrowserMBD5
ACMGMBD5 variants
VarityQ9P267
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]  
Somatic Mutations in Cancer : COSMIC3DMBD5
Mutations and Diseases : HGMDMBD5
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMBD5
DgiDB (Drug Gene Interaction Database)MBD5
DoCM (Curated mutations)MBD5
CIViC (Clinical Interpretations of Variants in Cancer)MBD5
Cancer3DMBD5
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM156200    611472   
Orphanet18028    19125   
DisGeNETMBD5
MedgenMBD5
Genetic Testing Registry MBD5
NextProtQ9P267 [Medical]
GENETestsMBD5
Target ValidationMBD5
Huge Navigator MBD5 [HugePedia]
ClinGenMBD5
Clinical trials, drugs, therapy
MyCancerGenomeMBD5
Protein Interactions : CTDMBD5
Pharm GKB GenePA134924244
PharosQ9P267
Clinical trialMBD5
Miscellaneous
canSAR (ICR)MBD5
HarmonizomeMBD5
DataMed IndexMBD5
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMBD5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 16:06:56 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.