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Aliases for CEP250 Gene

Aliases for CEP250 Gene

  • Centrosomal Protein 250 2 3 5
  • Centrosomal Nek2-Associated Protein 1 3 4
  • 250 KDa Centrosomal Protein 3 4
  • Centrosomal Protein 2 2 4
  • CNAP1 3 4
  • CEP2 3 4
  • Centrosome-Associated Protein CEP250 3
  • Centrosomal Protein 250kDa 2
  • C-NAP1 3
  • C-Nap1 4
  • Cep250 4

External Ids for CEP250 Gene

Previous HGNC Symbols for CEP250 Gene

  • CEP2

Previous GeneCards Identifiers for CEP250 Gene

  • GC20P033507
  • GC20P034042
  • GC20P030820

Summaries for CEP250 Gene

Entrez Gene Summary for CEP250 Gene

  • This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

GeneCards Summary for CEP250 Gene

CEP250 (Centrosomal Protein 250) is a Protein Coding gene. Diseases associated with CEP250 include Usher Syndrome. Among its related pathways are Cell Cycle, Mitotic and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include protein kinase binding and protein C-terminus binding. An important paralog of this gene is CROCC.

UniProtKB/Swiss-Prot for CEP250 Gene

  • Probably plays an important role in centrosome cohesion during interphase.

Gene Wiki entry for CEP250 Gene

Additional gene information for CEP250 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP250 Gene

Genomics for CEP250 Gene

GeneHancer (GH) Regulatory Elements for CEP250 Gene

Promoters and enhancers for CEP250 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J035453 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.1 143 2.9 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 POLR2B CEP250 MIR1289-1 GDF5 RPL36P4 NCOA6 RBM12 RBM39 ERGIC3 MAP1LC3A PIGU
GH20J035764 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.9 +314.4 314406 9.2 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF416 ZNF548 SP3 PHF20 ENSG00000283527 CPNE1 RBM12 RBM39 NCOA6 ERGIC3 TRPC4AP AAR2 DLGAP4-AS1
GH20J035301 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11 -149.1 -149131 9 PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 UQCC1 GDF5 MMP24OS EDEM2 MMP24 CEP250 MIR1289-1 CPNE1 EIF6 NCOA6
GH20J034675 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 10.9 -778.2 -778225 2.3 SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 IRF4 YY1 SLC30A9 POLR2B PIGU RBM12 CPNE1 TRPC4AP NCOA6 ZNF341-AS1 CEP250 EDEM2 RALY ERGIC3
GH20J035659 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.2 +207.7 207694 5.9 HDGF PKNOX1 SMAD1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 CPNE1 RBM12 RBM39 EIF6 ERGIC3 ROMO1 NFS1 TRPC4AP GGT7 PHF20
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CEP250 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CEP250 gene promoter:
  • MyoD
  • NF-1
  • Sox9

Genomic Locations for CEP250 Gene

Genomic Locations for CEP250 Gene
64,142 bases
Plus strand
56,820 bases
Plus strand

Genomic View for CEP250 Gene

Genes around CEP250 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP250 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP250 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP250 Gene

Proteins for CEP250 Gene

  • Protein details for CEP250 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Centrosome-associated protein CEP250
    Protein Accession:
    Secondary Accessions:
    • E1P5Q3
    • O14812
    • O60588
    • Q9H450

    Protein attributes for CEP250 Gene

    2442 amino acids
    Molecular mass:
    281137 Da
    Quaternary structure:
    • Monomer and homodimer (Probable). Forms a complex in vitro with both NEK2 kinase and the PPP1CC catalytic subunit of protein phosphatase 1 (PP1) (PubMed:9647649, PubMed:10880350). Interacts with CEP135 (PubMed:18851962). Interacts with CROCC/rootletin (By similarity). Interacts with CNTLN (PubMed:24554434). Interacts with NIN (via C-terminus) (By similarity).
    • Antibodies against CEP2 are present in sera from patients with autoimmune diseases that developed autoantibodies against centrosomal proteins.

    Alternative splice isoforms for CEP250 Gene


neXtProt entry for CEP250 Gene

Post-translational modifications for CEP250 Gene

  • Differentially phosphorylated during cell cycle. Phosphorylation may regulate association/dissociation from centrosome. During M phase of mitosis, C-terminal part is phosphorylated by NEK2, suggesting that it may trigger the dissociation from the mitotic centrosome. Dephosphorylated in vitro by the PP1 phosphatase.
  • Ubiquitination at posLast=15771577 and Lys1148
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CEP250 Gene

Domains & Families for CEP250 Gene

Gene Families for CEP250 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CEP250 Gene


Suggested Antigen Peptide Sequences for CEP250 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CEP250: view

No data available for UniProtKB/Swiss-Prot for CEP250 Gene

Function for CEP250 Gene

Molecular function for CEP250 Gene

UniProtKB/Swiss-Prot Function:
Probably plays an important role in centrosome cohesion during interphase.

Phenotypes From GWAS Catalog for CEP250 Gene

Gene Ontology (GO) - Molecular Function for CEP250 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10880350
GO:0008022 protein C-terminus binding IPI 18851962
GO:0019901 protein kinase binding IPI 9647649
GO:0019904 protein domain specific binding IPI 24554434
genes like me logo Genes that share ontologies with CEP250: view
genes like me logo Genes that share phenotypes with CEP250: view

Animal Model Products

miRNA for CEP250 Gene

miRTarBase miRNAs that target CEP250

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP250 Gene

Localization for CEP250 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP250 Gene

Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Note=Component of the core centrosome. In interphase cells, it specifically associates with the proximal ends of both mother and daughter centrioles. Associates with the centrosome in interphase cells. In mitotic cells, it dissociates from the mitotic spindle poles. At the end of cell division, it reaccumulates at centrosomes. In photoreceptors, found at the proximal ends of basal bodies.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CEP250 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 5
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CEP250 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 9647649
GO:0005814 colocalizes_with centriole IEA,IDA 11076968
GO:0005815 microtubule organizing center NAS 9647649
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CEP250: view

Pathways & Interactions for CEP250 Gene

genes like me logo Genes that share pathways with CEP250: view

Pathways by source for CEP250 Gene

SIGNOR curated interactions for CEP250 Gene

Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for CEP250 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000278 mitotic cell cycle IDA 12140259
GO:0007049 cell cycle IEA --
GO:0008104 protein localization IMP 18851962
GO:0010389 regulation of G2/M transition of mitotic cell cycle TAS --
genes like me logo Genes that share ontologies with CEP250: view

Drugs & Compounds for CEP250 Gene

No Compound Related Data Available

Transcripts for CEP250 Gene

Unigene Clusters for CEP250 Gene

Centrosomal protein 250kDa:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CEP250 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12
SP1: -

Relevant External Links for CEP250 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CEP250 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CEP250 Gene

Protein differential expression in normal tissues from HIPED for CEP250 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (26.6), CD8 Tcells (8.1), and Plasma (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CEP250 Gene

Protein tissue co-expression partners for CEP250 Gene

NURSA nuclear receptor signaling pathways regulating expression of CEP250 Gene:


SOURCE GeneReport for Unigene cluster for CEP250 Gene:


mRNA Expression by UniProt/SwissProt for CEP250 Gene:

Tissue specificity: Ubiquitously and weakly expressed.

Evidence on tissue expression from TISSUES for CEP250 Gene

  • Eye(2.5)
genes like me logo Genes that share expression patterns with CEP250: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP250 Gene

Orthologs for CEP250 Gene

This gene was present in the common ancestor of animals.

Orthologs for CEP250 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CEP250 34 33
  • 99.55 (n)
(Canis familiaris)
Mammalia CEP250 34 33
  • 86.12 (n)
(Bos Taurus)
Mammalia CEP250 34 33
  • 84.98 (n)
(Rattus norvegicus)
Mammalia Cep250 33
  • 82.52 (n)
(Mus musculus)
Mammalia Cep250 16 34 33
  • 82.34 (n)
(Monodelphis domestica)
Mammalia CEP250 34
  • 60 (a)
(Ornithorhynchus anatinus)
Mammalia CEP250 34
  • 21 (a)
(Gallus gallus)
Aves CEP250 34 33
  • 55.91 (n)
(Anolis carolinensis)
Reptilia CEP250 34
  • 33 (a)
(Danio rerio)
Actinopterygii CEP250 34
  • 16 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rootletin 34
  • 17 (a)
Species where no ortholog for CEP250 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CEP250 Gene

Gene Tree for CEP250 (if available)
Gene Tree for CEP250 (if available)
Evolutionary constrained regions (ECRs) for CEP250: view image

Paralogs for CEP250 Gene

Paralogs for CEP250 Gene

(3) SIMAP similar genes for CEP250 Gene using alignment to 12 proteins:

  • CP250_HUMAN
  • G1UI40_HUMAN
  • H0Y5R2_HUMAN
  • H7C0D6_HUMAN
  • H7C0P0_HUMAN
genes like me logo Genes that share paralogs with CEP250: view

Variants for CEP250 Gene

Sequence variations from dbSNP and Humsavar for CEP250 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000070130 -- 35,509,840(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000110351 -- 35,479,892(+) G/A intron_variant
rs1000147117 -- 35,505,711(+) G/T genic_downstream_transcript_variant, intron_variant
rs1000225122 -- 35,489,500(+) G/T intron_variant
rs1000241006 -- 35,496,436(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CEP250 Gene

Variant ID Type Subtype PubMed ID
esv3567956 CNV loss 25503493
nsv1062839 CNV loss 25217958
nsv3364 CNV insertion 18451855
nsv833963 CNV gain 17160897

Variation tolerance for CEP250 Gene

Residual Variation Intolerance Score: 16.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.82; 73.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CEP250 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP250 Gene

Disorders for CEP250 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CEP250 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
usher syndrome
  • retinitis pigmentosa-deafness syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CEP250

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CEP250: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CEP250 Gene

Publications for CEP250 Gene

  1. Autoantibodies to a group of centrosomal proteins in human autoimmune sera reactive with the centrosome. (PMID: 9506584) Mack GJ … Rattner JB (Arthritis and rheumatism 1998) 2 3 4 22 58
  2. C-Nap1, a novel centrosomal coiled-coil protein and candidate substrate of the cell cycle-regulated protein kinase Nek2. (PMID: 9647649) Fry AM … Nigg EA (The Journal of cell biology 1998) 2 3 4 22 58
  3. MDM1 is a microtubule-binding protein that negatively regulates centriole duplication. (PMID: 26337392) Van de Mark D … Stearns T (Molecular biology of the cell 2015) 3 4 58
  4. Centlein mediates an interaction between C-Nap1 and Cep68 to maintain centrosome cohesion. (PMID: 24554434) Fang G … Yuan L (Journal of cell science 2014) 3 4 58
  5. Centrosome-related genes, genetic variation, and risk of breast cancer. (PMID: 20508983) Olson JE … Couch FJ (Breast cancer research and treatment 2011) 3 44 58

Products for CEP250 Gene

Sources for CEP250 Gene

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