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Aliases for CEP250 Gene

Aliases for CEP250 Gene

  • Centrosomal Protein 250kDa 2 3
  • Centrosomal Nek2-Associated Protein 1 3 4
  • 250 KDa Centrosomal Protein 3 4
  • Centrosomal Protein 2 2 4
  • C-NAP1 3 4
  • CNAP1 3 4
  • CEP2 3 4
  • Centrosome Associated Protein 3
  • Centrosomal Protein, 250-KD 3
  • EC 63
  • EC 63
  • EC 63
  • 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. [provided by RefSeq, Jun 2009]

GeneCards Summary for CEP250 Gene

CEP250 (Centrosomal Protein 250kDa) is a Protein Coding gene. Diseases associated with CEP250 include usher syndrome. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. 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

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

Genomics for CEP250 Gene

Regulatory Elements for CEP250 Gene

Transcription factor binding sites by QIAGEN in the CEP250 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CEP250 Gene

35,455,139 bp from pter
35,519,280 bp from pter
64,142 bases
Plus strand

Genomic View for CEP250 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene 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). Interacts with CROCC/rootletin (By similarity). Forms a complex in vitro with both NEK2 kinase and the PPP1CC catalytic subunit of protein phosphatase 1 (PP1). Interacts with CEP135.
    • 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

Proteomics data for CEP250 Gene at MOPED

Selected DME Specific Peptides 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 Lys 1148 and Lys 1577
  • Modification sites at PhosphoSitePlus

Domains & Families for CEP250 Gene

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 Gene Families and 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

Enzyme Numbers (IUBMB) 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

No data available for 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

Jensen Localization Image for CEP250 Gene COMPARTMENTS Subcellular localization image for CEP250 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
cytosol 4

Gene Ontology (GO) - Cellular Components for CEP250 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005813 centrosome IDA 9647649
GO:0005814 colocalizes_with centriole IDA 11076968
GO:0005815 microtubule organizing center NAS 9647649
GO:0005829 cytosol TAS --
GO:0005929 cilium IEA --
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

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 TAS --
GO:0006996 organelle organization TAS --
GO:0008104 protein localization IMP 18851962
GO:0010457 centriole-centriole cohesion IMP 11076968
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:

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 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, PaxDb, MOPED, and MaxQB for CEP250 Gene

SOURCE GeneReport for Unigene cluster for CEP250 Gene Hs.443976

mRNA Expression by UniProt/SwissProt for CEP250 Gene

Tissue specificity: Ubiquitously and weakly expressed
genes like me logo Genes that share expression patterns with CEP250: view

Protein tissue co-expression partners for CEP250 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
(Bos Taurus)
Mammalia CEP250 35
  • 84.98 (n)
  • 82.1 (a)
CEP250 36
  • 82 (a)
(Canis familiaris)
Mammalia CEP250 35
  • 86.12 (n)
  • 82.06 (a)
CEP250 36
  • 82 (a)
(Mus musculus)
Mammalia Cep250 35
  • 82.34 (n)
  • 79.73 (a)
Cep250 16
Cep250 36
  • 79 (a)
(Pan troglodytes)
Mammalia CEP250 35
  • 99.55 (n)
  • 99.43 (a)
CEP250 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Cep250 35
  • 82.52 (n)
  • 79.74 (a)
(Monodelphis domestica)
Mammalia CEP250 36
  • 60 (a)
(Ornithorhynchus anatinus)
Mammalia CEP250 36
  • 21 (a)
(Gallus gallus)
Aves CEP250 35
  • 55.91 (n)
  • 43.4 (a)
CEP250 36
  • 40 (a)
(Anolis carolinensis)
Reptilia CEP250 36
  • 33 (a)
(Danio rerio)
Actinopterygii CEP250 36
  • 16 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rootletin 36
  • 17 (a)
Species with no ortholog for CEP250:
  • 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)

Paralogs for CEP250 Gene

Paralogs for CEP250 Gene

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 Sequence Context AA Info Type MAF
rs10359 -- 35,511,960(+) CCCTG(A/G)GATCT utr-variant-3-prime, intron-variant
rs139125131 -- 35,513,420(+) TGCCC(A/G)GCTAA intron-variant
rs139360556 -- 35,495,384(+) AGGGA(C/T)TGTAA intron-variant
rs140286792 -- 35,504,332(+) GCAGG(C/T)AGAAT reference, missense
rs140299661 -- 35,514,156(+) GGACC(C/T)AACTT intron-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv833963 CNV Gain 17160897
nsv3364 CNV Insertion 18451855

Variation tolerance for CEP250 Gene

Residual Variation Intolerance Score: 16.84% 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)

Relevant External Links for CEP250 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

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
  • deafness-retinitis pigmentosa syndrome
- elite association

Relevant External Links for CEP250

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) 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. C-Nap1, a novel centrosomal coiled-coil protein and candidate substrate of the cell cycle-regulated protein kinase Nek2. (PMID: 9647649) Fry A.M. … Nigg E.A. (J. Cell Biol. 1998) 2 23 67
  2. Autoantibodies to a group of centrosomal proteins in human autoimmune sera reactive with the centrosome. (PMID: 9506584) Mack G.J. … Rattner J.B. (Arthritis Rheum. 1998) 2 23 67
  3. beta-Catenin is a Nek2 substrate involved in centrosome separation. (PMID: 18086858) Bahmanyar S. … Barth A.I. (Genes Dev. 2008) 23 67
  4. Rootletin forms centriole-associated filaments and functions in centrosome cohesion. (PMID: 16203858) Bahe S. … Nigg E.A. (J. Cell Biol. 2005) 23 67
  5. The mechanism of granulocyte nuclear shape determination: possible involvement of the centrosome. (PMID: 15819399) Olins A.L. … Olins D.E. (Eur. J. Cell Biol. 2005) 23 67

Products for CEP250 Gene

Sources for CEP250 Gene

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