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CEP250 (centrosomal protein 250)

Identity

Alias (NCBI)C-NAP1
CEP2
CNAP1
CRDHL2
HGNC (Hugo) CEP250
HGNC Alias symbC-NAP1
HGNC Previous nameCEP2
HGNC Previous namecentrosomal protein 2
 centrosomal protein 250kDa
LocusID (NCBI) 11190
Atlas_Id 54212
Location 20q11.22  [Link to chromosome band 20q11]
Location_base_pair Starts at 35455598 and ends at 35519280 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)
CEP250 (20q11.22) / DPM1 (20q13.13)CEP250 (20q11.22) / POLR2A (17p13.1)ENPEP (4q25) / CEP250 (20q11.22)
ZMYND8 (20q13.12) / CEP250 (20q11.22)ZNF362 (1p35.1) / CEP250 (20q11.22)

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)CEP250   1859
Cards
Entrez_Gene (NCBI)CEP250    centrosomal protein 250
AliasesC-NAP1; CEP2; CNAP1; CRDHL2
GeneCards (Weizmann)CEP250
Ensembl hg19 (Hinxton)ENSG00000126001 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000126001 [Gene_View]  ENSG00000126001 [Sequence]  chr20:35455598-35519280 [Contig_View]  CEP250 [Vega]
ICGC DataPortalENSG00000126001
TCGA cBioPortalCEP250
AceView (NCBI)CEP250
Genatlas (Paris)CEP250
SOURCE (Princeton)CEP250
Genetics Home Reference (NIH)CEP250
Genomic and cartography
GoldenPath hg38 (UCSC)CEP250  -     chr20:35455598-35519280 +  20q11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CEP250  -     20q11.22   [Description]    (hg19-Feb_2009)
GoldenPathCEP250 - 20q11.22 [CytoView hg19]  CEP250 - 20q11.22 [CytoView hg38]
ImmunoBaseENSG00000126001
Genome Data Viewer NCBICEP250 [Mapview hg19]  
OMIM609689   618358   
Gene and transcription
Genbank (Entrez)AB621828 AF022655 AF049105 AK297572 AK307861
RefSeq transcript (Entrez)NM_001035518 NM_001318219 NM_007186
Consensus coding sequences : CCDS (NCBI)CEP250
Gene ExpressionCEP250 [ NCBI-GEO ]   CEP250 [ EBI - ARRAY_EXPRESS ]   CEP250 [ SEEK ]   CEP250 [ MEM ]
Gene Expression Viewer (FireBrowse)CEP250 [ Firebrowse - Broad ]
GenevisibleExpression of CEP250 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11190
GTEX Portal (Tissue expression)CEP250
Human Protein AtlasENSG00000126001-CEP250 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BV73   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BV73  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BV73
PhosPhoSitePlusQ9BV73
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)CEP250
PDB (RSDB)6OQA   
PDB Europe6OQA   
PDB (PDBSum)6OQA   
PDB (IMB)6OQA   
Structural Biology KnowledgeBase6OQA   
SCOP (Structural Classification of Proteins)6OQA   
CATH (Classification of proteins structures)6OQA   
SuperfamilyQ9BV73
AlphaFold pdb e-kbQ9BV73   
Human Protein Atlas [tissue]ENSG00000126001-CEP250 [tissue]
HPRD09877
Protein Interaction databases
DIP (DOE-UCLA)Q9BV73
IntAct (EBI)Q9BV73
BioGRIDCEP250
STRING (EMBL)CEP250
ZODIACCEP250
Ontologies - Pathways
QuickGOQ9BV73
Ontology : AmiGOG2/M transition of mitotic cell cycle  mitotic cell cycle  photoreceptor outer segment  photoreceptor inner segment  protein binding  centrosome  centriole  centriole  microtubule organizing center  cytosol  protein C-terminus binding  protein localization  regulation of G2/M transition of mitotic cell cycle  centriole-centriole cohesion  protein kinase binding  protein domain specific binding  regulation of centriole-centriole cohesion  protein-containing complex  protein localization to organelle  ciliary basal body  perinuclear region of cytoplasm  detection of light stimulus involved in visual perception  cilium assembly  extracellular exosome  ciliary basal body-plasma membrane docking  positive regulation of protein localization to centrosome  non-motile cilium assembly  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  mitotic cell cycle  photoreceptor outer segment  photoreceptor inner segment  protein binding  centrosome  centriole  centriole  microtubule organizing center  cytosol  protein C-terminus binding  protein localization  regulation of G2/M transition of mitotic cell cycle  centriole-centriole cohesion  protein kinase binding  protein domain specific binding  regulation of centriole-centriole cohesion  protein-containing complex  protein localization to organelle  ciliary basal body  perinuclear region of cytoplasm  detection of light stimulus involved in visual perception  cilium assembly  extracellular exosome  ciliary basal body-plasma membrane docking  positive regulation of protein localization to centrosome  non-motile cilium assembly  
NDEx NetworkCEP250
Atlas of Cancer Signalling NetworkCEP250
Wikipedia pathwaysCEP250
Orthology - Evolution
OrthoDB11190
GeneTree (enSembl)ENSG00000126001
Phylogenetic Trees/Animal Genes : TreeFamCEP250
Homologs : HomoloGeneCEP250
Homology/Alignments : Family Browser (UCSC)CEP250
Gene fusions - Rearrangements
Fusion : MitelmanCEP250/DPM1 [20q11.22/20q13.13]  
Fusion : MitelmanZMYND8/CEP250 [20q13.12/20q11.22]  
Fusion : QuiverCEP250
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCEP250 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CEP250
dbVarCEP250
ClinVarCEP250
MonarchCEP250
1000_GenomesCEP250 
Exome Variant ServerCEP250
GNOMAD BrowserENSG00000126001
Varsome BrowserCEP250
ACMGCEP250 variants
VarityQ9BV73
Genomic Variants (DGV)CEP250 [DGVbeta]
DECIPHERCEP250 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCEP250 
Mutations
ICGC Data PortalCEP250 
TCGA Data PortalCEP250 
Broad Tumor PortalCEP250
OASIS PortalCEP250 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCEP250  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCEP250
Mutations and Diseases : HGMDCEP250
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCEP250
DgiDB (Drug Gene Interaction Database)CEP250
DoCM (Curated mutations)CEP250
CIViC (Clinical Interpretations of Variants in Cancer)CEP250
Cancer3DCEP250
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609689    618358   
Orphanet
DisGeNETCEP250
MedgenCEP250
Genetic Testing Registry CEP250
NextProtQ9BV73 [Medical]
GENETestsCEP250
Target ValidationCEP250
Huge Navigator CEP250 [HugePedia]
ClinGenCEP250
Clinical trials, drugs, therapy
MyCancerGenomeCEP250
Protein Interactions : CTDCEP250
Pharm GKB GenePA26415
PharosQ9BV73
Clinical trialCEP250
Miscellaneous
canSAR (ICR)CEP250
HarmonizomeCEP250
DataMed IndexCEP250
Probes
Litterature
PubMed68 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCEP250
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:03:34 CEST 2021

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