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MYCBP2 (MYC binding protein 2, E3 ubiquitin protein ligase)

Identity

Alias_namesMYC binding protein 2
Alias_symbol (synonym)PAM
KIAA0916
FLJ10106
Other aliasMyc-bp2
Phr
HGNC (Hugo) MYCBP2
LocusID (NCBI) 23077
Atlas_Id 55356
Location 1p34.3  [Link to chromosome band 1p34]
Location_base_pair Starts at 77044657 and ends at 77327042 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)
HIPK2 (7q34) / MYCBP2 (13q22.3)MYCBP2 (13q22.3) / ATG7 (3p25.3)MYCBP2 (13q22.3) / N4BP2L2 (13q13.1)
MYCBP2 (13q22.3) / NAT8L (4p16.3)MYCBP2 (13q22.3) / PCBP2 (12q13.13)MYCBP2 (13q22.3) / RNF219 (13q31.1)
HIPK2 7q34 / MYCBP2 13q22.3MYCBP2 13q22.3 / RNF219 13q31.1

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(7;13)(q34;q22) HIPK2/MYCBP2
t(13;13)(q22;q31) MYCBP2/RNF219

External links

Nomenclature
HGNC (Hugo)MYCBP2   23386
Cards
Entrez_Gene (NCBI)MYCBP2  23077  MYC binding protein 2, E3 ubiquitin protein ligase
AliasesMyc-bp2; PAM; Phr
GeneCards (Weizmann)MYCBP2
Ensembl hg19 (Hinxton)ENSG00000005810 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000005810 [Gene_View]  ENSG00000005810 [Sequence]  chr13:77044657-77327042 [Contig_View]  MYCBP2 [Vega]
ICGC DataPortalENSG00000005810
TCGA cBioPortalMYCBP2
AceView (NCBI)MYCBP2
Genatlas (Paris)MYCBP2
WikiGenes23077
SOURCE (Princeton)MYCBP2
Genetics Home Reference (NIH)MYCBP2
Genomic and cartography
GoldenPath hg38 (UCSC)MYCBP2  -     chr13:77044657-77327042 -  1p34.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYCBP2  -     1p34.3   [Description]    (hg19-Feb_2009)
EnsemblMYCBP2 - 1p34.3 [CytoView hg19]  MYCBP2 - 1p34.3 [CytoView hg38]
Mapping of homologs : NCBIMYCBP2 [Mapview hg19]  MYCBP2 [Mapview hg38]
OMIM610392   
Gene and transcription
Genbank (Entrez)AA236471 AB020723 AF075587 AF083244 AK000968
RefSeq transcript (Entrez)NM_015057
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MYCBP2
Cluster EST : UnigeneHs.591221 [ NCBI ]
CGAP (NCI)Hs.591221
Alternative Splicing GalleryENSG00000005810
Gene ExpressionMYCBP2 [ NCBI-GEO ]   MYCBP2 [ EBI - ARRAY_EXPRESS ]   MYCBP2 [ SEEK ]   MYCBP2 [ MEM ]
Gene Expression Viewer (FireBrowse)MYCBP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23077
GTEX Portal (Tissue expression)MYCBP2
Human Protein AtlasENSG00000005810-MYCBP2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75592   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75592  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75592
Splice isoforms : SwissVarO75592
Catalytic activity : Enzyme2.3.2.27 [ Enzyme-Expasy ]   2.3.2.272.3.2.27 [ IntEnz-EBI ]   2.3.2.27 [ BRENDA ]   2.3.2.27 [ KEGG ]   
PhosPhoSitePlusO75592
Domaine pattern : Prosite (Expaxy)DOC (PS51284)    FILAMIN_REPEAT (PS50194)    RCC1_2 (PS00626)    RCC1_3 (PS50012)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)APC_su10/DOC_dom    Filamin/ABP280_repeat-like    Galactose-bd-like_sf    Ig_E-set    PHR    PHR_sf    RCC1/BLIP-II    Reg_chr_condens    SH3-like_bac-type    Znf_RING    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)ANAPC10 (PF03256)    PHR (PF08005)    RCC1 (PF00415)    SH3_3 (PF08239)    zf-RING_2 (PF13639)   
Domain families : Pfam (NCBI)pfam03256    pfam08005    pfam00415    pfam08239    pfam13639   
Domain families : Smart (EMBL)APC10 (SM01337)  RING (SM00184)  
Conserved Domain (NCBI)MYCBP2
DMDM Disease mutations23077
Blocks (Seattle)MYCBP2
SuperfamilyO75592
Human Protein Atlas [tissue]ENSG00000005810-MYCBP2 [tissue]
Peptide AtlasO75592
HPRD10104
IPIIPI00019896   IPI00383833   IPI00289776   IPI01014189   
Protein Interaction databases
DIP (DOE-UCLA)O75592
IntAct (EBI)O75592
FunCoupENSG00000005810
BioGRIDMYCBP2
STRING (EMBL)MYCBP2
ZODIACMYCBP2
Ontologies - Pathways
QuickGOO75592
Ontology : AmiGOguanyl-nucleotide exchange factor activity  protein binding  nucleus  nucleus  transcription, DNA-templated  regulation of transcription, DNA-templated  zinc ion binding  Ran GTPase binding  membrane  protein ubiquitination  protein ubiquitination  central nervous system projection neuron axonogenesis  intracellular membrane-bounded organelle  neuromuscular process  ubiquitin protein ligase activity  regulation of axon guidance  
Ontology : EGO-EBIguanyl-nucleotide exchange factor activity  protein binding  nucleus  nucleus  transcription, DNA-templated  regulation of transcription, DNA-templated  zinc ion binding  Ran GTPase binding  membrane  protein ubiquitination  protein ubiquitination  central nervous system projection neuron axonogenesis  intracellular membrane-bounded organelle  neuromuscular process  ubiquitin protein ligase activity  regulation of axon guidance  
NDEx NetworkMYCBP2
Atlas of Cancer Signalling NetworkMYCBP2
Wikipedia pathwaysMYCBP2
Orthology - Evolution
OrthoDB23077
GeneTree (enSembl)ENSG00000005810
Phylogenetic Trees/Animal Genes : TreeFamMYCBP2
HOVERGENO75592
HOGENOMO75592
Homologs : HomoloGeneMYCBP2
Homology/Alignments : Family Browser (UCSC)MYCBP2
Gene fusions - Rearrangements
Fusion : MitelmanHIPK2/MYCBP2 [7q34/13q22.3]  [t(7;13)(q34;q22)]  
Fusion : MitelmanMYCBP2/RNF219 [13q22.3/13q31.1]  [t(13;13)(q22;q31)]  
Fusion PortalHIPK2 7q34 MYCBP2 13q22.3 PRAD
Fusion PortalMYCBP2 13q22.3 RNF219 13q31.1 BRCA
Fusion : QuiverMYCBP2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYCBP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYCBP2
dbVarMYCBP2
ClinVarMYCBP2
1000_GenomesMYCBP2 
Exome Variant ServerMYCBP2
ExAC (Exome Aggregation Consortium)ENSG00000005810
GNOMAD BrowserENSG00000005810
Varsome BrowserMYCBP2
Genetic variants : HAPMAP23077
Genomic Variants (DGV)MYCBP2 [DGVbeta]
DECIPHERMYCBP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMYCBP2 
Mutations
ICGC Data PortalMYCBP2 
TCGA Data PortalMYCBP2 
Broad Tumor PortalMYCBP2
OASIS PortalMYCBP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYCBP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMYCBP2
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
BioMutasearch MYCBP2
DgiDB (Drug Gene Interaction Database)MYCBP2
DoCM (Curated mutations)MYCBP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYCBP2 (select a term)
intoGenMYCBP2
Cancer3DMYCBP2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610392   
Orphanet
DisGeNETMYCBP2
MedgenMYCBP2
Genetic Testing Registry MYCBP2
NextProtO75592 [Medical]
TSGene23077
GENETestsMYCBP2
Target ValidationMYCBP2
Huge Navigator MYCBP2 [HugePedia]
snp3D : Map Gene to Disease23077
BioCentury BCIQMYCBP2
ClinGenMYCBP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23077
Chemical/Pharm GKB GenePA134871126
Clinical trialMYCBP2
Miscellaneous
canSAR (ICR)MYCBP2 (select the gene name)
Probes
Litterature
PubMed76 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYCBP2
EVEXMYCBP2
GoPubMedMYCBP2
iHOPMYCBP2
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 : Thu Aug 16 11:18:20 CEST 2018
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