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CDK5RAP2 (CDK5 regulatory subunit associated protein 2)

Identity

Alias_namesMCPH3
microcephaly
Alias_symbol (synonym)C48
FLJ10867
CEP215
Other aliasCep215
HGNC (Hugo) CDK5RAP2
LocusID (NCBI) 55755
Atlas_Id 46631
Location 9q33.2  [Link to chromosome band 9q33]
Location_base_pair Starts at 120388869 and ends at 120580170 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CDK5RAP2 (9q33.2) / CDK5RAP2 (9q33.2)CDK5RAP2 (9q33.2) / ENG (9q34.11)CDK5RAP2 (9q33.2) / GRIN1 (9q34.3)
CDK5RAP2 (9q33.2) / MEGF9 (9q33.2)CDK5RAP2 (9q33.2) / NCAM1 (11q23.2)CDK5RAP2 (9q33.2) / PDGFRA (4q12)
CDK5RAP2 (9q33.2) / SAP130 (2q14.3)CDK5RAP2 (9q33.2) / SLC7A8 (14q11.2)CDK5RAP2 (9q33.2) / TMOD1 (9q22.33)
NCAM1 (11q23.2) / CDK5RAP2 (9q33.2)CDK5RAP2 9q33.2 / ENG 9q34.11CDK5RAP2 9q33.2 / GRIN1 9q34.3

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  ins(9;4)(q33;q12q25) CDK5RAP2/PDGFRA


External links

Nomenclature
HGNC (Hugo)CDK5RAP2   18672
Cards
Entrez_Gene (NCBI)CDK5RAP2  55755  CDK5 regulatory subunit associated protein 2
AliasesC48; Cep215; MCPH3
GeneCards (Weizmann)CDK5RAP2
Ensembl hg19 (Hinxton)ENSG00000136861 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136861 [Gene_View]  chr9:120388869-120580170 [Contig_View]  CDK5RAP2 [Vega]
ICGC DataPortalENSG00000136861
TCGA cBioPortalCDK5RAP2
AceView (NCBI)CDK5RAP2
Genatlas (Paris)CDK5RAP2
WikiGenes55755
SOURCE (Princeton)CDK5RAP2
Genetics Home Reference (NIH)CDK5RAP2
Genomic and cartography
GoldenPath hg38 (UCSC)CDK5RAP2  -     chr9:120388869-120580170 -  9q33.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CDK5RAP2  -     9q33.2   [Description]    (hg19-Feb_2009)
EnsemblCDK5RAP2 - 9q33.2 [CytoView hg19]  CDK5RAP2 - 9q33.2 [CytoView hg38]
Mapping of homologs : NCBICDK5RAP2 [Mapview hg19]  CDK5RAP2 [Mapview hg38]
OMIM604804   608201   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001011649 NM_001272039 NM_018249
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CDK5RAP2
Cluster EST : UnigeneHs.269560 [ NCBI ]
CGAP (NCI)Hs.269560
Alternative Splicing GalleryENSG00000136861
Gene ExpressionCDK5RAP2 [ NCBI-GEO ]   CDK5RAP2 [ EBI - ARRAY_EXPRESS ]   CDK5RAP2 [ SEEK ]   CDK5RAP2 [ MEM ]
Gene Expression Viewer (FireBrowse)CDK5RAP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55755
GTEX Portal (Tissue expression)CDK5RAP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96SN8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96SN8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96SN8
Splice isoforms : SwissVarQ96SN8
PhosPhoSitePlusQ96SN8
Domains : Interpro (EBI)Cnn_1N   
Domain families : Pfam (Sanger)Cnn_1N (PF07989)   
Domain families : Pfam (NCBI)pfam07989   
Conserved Domain (NCBI)CDK5RAP2
DMDM Disease mutations55755
Blocks (Seattle)CDK5RAP2
SuperfamilyQ96SN8
Human Protein AtlasENSG00000136861
Peptide AtlasQ96SN8
HPRD09740
IPIIPI00329038   IPI00329039   IPI00384417   IPI00384418   IPI00385005   IPI00746700   IPI00946374   IPI00946528   IPI00946764   
Protein Interaction databases
DIP (DOE-UCLA)Q96SN8
IntAct (EBI)Q96SN8
FunCoupENSG00000136861
BioGRIDCDK5RAP2
STRING (EMBL)CDK5RAP2
ZODIACCDK5RAP2
Ontologies - Pathways
QuickGOQ96SN8
Ontology : AmiGOG2/M transition of mitotic cell cycle  establishment of mitotic spindle orientation  microtubule cytoskeleton organization  pericentriolar material  spindle pole  microtubule bundle formation  protein binding  calmodulin binding  cytoplasm  Golgi apparatus  centrosome  cytosol  cytoskeleton  microtubule  chromosome segregation  centrosome cycle  centriole replication  brain development  brain development  microtubule binding  tubulin binding  protein kinase binding  neurogenesis  cell junction  microtubule organizing center organization  microtubule plus-end  transcription regulatory region DNA binding  regulation of neuron differentiation  negative regulation of neuron differentiation  positive regulation of transcription, DNA-templated  negative regulation of centriole replication  perinuclear region of cytoplasm  extracellular exosome  regulation of spindle checkpoint  mitotic spindle pole  ciliary basal body docking  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  establishment of mitotic spindle orientation  microtubule cytoskeleton organization  pericentriolar material  spindle pole  microtubule bundle formation  protein binding  calmodulin binding  cytoplasm  Golgi apparatus  centrosome  cytosol  cytoskeleton  microtubule  chromosome segregation  centrosome cycle  centriole replication  brain development  brain development  microtubule binding  tubulin binding  protein kinase binding  neurogenesis  cell junction  microtubule organizing center organization  microtubule plus-end  transcription regulatory region DNA binding  regulation of neuron differentiation  negative regulation of neuron differentiation  positive regulation of transcription, DNA-templated  negative regulation of centriole replication  perinuclear region of cytoplasm  extracellular exosome  regulation of spindle checkpoint  mitotic spindle pole  ciliary basal body docking  
NDEx NetworkCDK5RAP2
Atlas of Cancer Signalling NetworkCDK5RAP2
Wikipedia pathwaysCDK5RAP2
Orthology - Evolution
OrthoDB55755
GeneTree (enSembl)ENSG00000136861
Phylogenetic Trees/Animal Genes : TreeFamCDK5RAP2
HOVERGENQ96SN8
HOGENOMQ96SN8
Homologs : HomoloGeneCDK5RAP2
Homology/Alignments : Family Browser (UCSC)CDK5RAP2
Gene fusions - Rearrangements
Fusion : MitelmanCDK5RAP2/ENG [9q33.2/9q34.11]  
Fusion : MitelmanCDK5RAP2/GRIN1 [9q33.2/9q34.3]  [t(9;9)(q33;q34)]  
Fusion : MitelmanCDK5RAP2/PDGFRA [9q33.2/4q12]  [ins(9;4)(q33;q12q25)]  
Fusion: TCGACDK5RAP2 9q33.2 ENG 9q34.11 BRCA
Fusion: TCGACDK5RAP2 9q33.2 GRIN1 9q34.3 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCDK5RAP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CDK5RAP2
dbVarCDK5RAP2
ClinVarCDK5RAP2
1000_GenomesCDK5RAP2 
Exome Variant ServerCDK5RAP2
ExAC (Exome Aggregation Consortium)CDK5RAP2 (select the gene name)
Genetic variants : HAPMAP55755
Genomic Variants (DGV)CDK5RAP2 [DGVbeta]
DECIPHERCDK5RAP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCDK5RAP2 
Mutations
ICGC Data PortalCDK5RAP2 
TCGA Data PortalCDK5RAP2 
Broad Tumor PortalCDK5RAP2
OASIS PortalCDK5RAP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCDK5RAP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCDK5RAP2
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 CDK5RAP2
DgiDB (Drug Gene Interaction Database)CDK5RAP2
DoCM (Curated mutations)CDK5RAP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CDK5RAP2 (select a term)
intoGenCDK5RAP2
Cancer3DCDK5RAP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604804    608201   
Orphanet732   
MedgenCDK5RAP2
Genetic Testing Registry CDK5RAP2
NextProtQ96SN8 [Medical]
TSGene55755
GENETestsCDK5RAP2
Target ValidationCDK5RAP2
Huge Navigator CDK5RAP2 [HugePedia]
snp3D : Map Gene to Disease55755
BioCentury BCIQCDK5RAP2
ClinGenCDK5RAP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55755
Chemical/Pharm GKB GenePA38632
Clinical trialCDK5RAP2
Miscellaneous
canSAR (ICR)CDK5RAP2 (select the gene name)
Probes
Litterature
PubMed66 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCDK5RAP2
EVEXCDK5RAP2
GoPubMedCDK5RAP2
iHOPCDK5RAP2
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 25 19:01:44 CEST 2017

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