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Aliases for CEP250 Gene

Aliases for CEP250 Gene

  • Centrosomal Protein 250 2 3
  • Centrosomal Protein 250kDa 2 3 5
  • 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
  • EC 3.1.1.61 63
  • EC 2.6.1.9 63
  • EC 4.3.2.1 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. 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. Among its related pathways are Cell Cycle, Mitotic 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 CROCC2.

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

Promoters for CEP250 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CEP250 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for CEP250 Gene

Chromosome:
20
Start:
35,455,139 bp from pter
End:
35,519,280 bp from pter
Size:
64,142 bases
Orientation:
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:
    Q9BV73-CP250_HUMAN
    Recommended name:
    Centrosome-associated protein CEP250
    Protein Accession:
    Q9BV73
    Secondary Accessions:
    • E1P5Q3
    • O14812
    • O60588
    • Q9H450

    Protein attributes for CEP250 Gene

    Size:
    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. Interacts with CNTLN (PubMed:24554434).
    Miscellaneous:
    • Antibodies against CEP2 are present in sera from patients with autoimmune diseases that developed autoantibodies against centrosomal proteins.

    Alternative splice isoforms for CEP250 Gene

    UniProtKB/Swiss-Prot:

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

InterPro:
ProtoNet:

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

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

Animal Model Products

miRNA for CEP250 Gene

miRTarBase miRNAs that target CEP250

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for CEP250 Gene COMPARTMENTS Subcellular localization image for CEP250 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 2

Gene Ontology (GO) - Cellular Components for CEP250 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005814 colocalizes_with centriole IEA,IDA 11076968
GO:0048471 perinuclear region of cytoplasm 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:0008104 protein localization IMP 18851962
GO:0033365 protein localization to organelle IMP 24554434
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: -
SP2:
SP3:
SP4:

Relevant External Links for CEP250 Gene

GeneLoc Exon Structure for
CEP250
ECgene alternative splicing isoforms for
CEP250

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

Q9BV73-CP250_HUMAN
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
cow
(Bos Taurus)
Mammalia CEP250 35
  • 84.98 (n)
  • 82.1 (a)
CEP250 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CEP250 35
  • 86.12 (n)
  • 82.06 (a)
CEP250 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cep250 35
  • 82.34 (n)
  • 79.73 (a)
Cep250 16
Cep250 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CEP250 35
  • 99.55 (n)
  • 99.43 (a)
CEP250 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cep250 35
  • 82.52 (n)
  • 79.74 (a)
oppossum
(Monodelphis domestica)
Mammalia CEP250 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEP250 36
  • 21 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEP250 35
  • 55.91 (n)
  • 43.4 (a)
CEP250 36
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEP250 36
  • 33 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CEP250 36
  • 16 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Rootletin 36
  • 17 (a)
OneToMany
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

ENSEMBL:
Gene Tree for CEP250 (if available)
TreeFam:
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
rs2296403 - 35,493,524(+) CTCCA(A/T)GAAGA reference, missense
rs3748433 - 35,502,691(-) GTCCC(C/T)GCAGA reference, missense
rs17092706 - 35,496,623(+) TTTTA(C/G)AAGAA reference, missense
rs10359 -- 35,511,960(+) CCCTG(A/G)GATCT intron-variant, utr-variant-3-prime
rs932551 -- 35,494,855(-) ATAAC(A/G)GGCGT intron-variant

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: 16.8% 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)

Relevant External Links for CEP250 Gene

HapMap Linkage Disequilibrium report
CEP250
Human Gene Mutation Database (HGMD)
CEP250

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

Disorders for CEP250 Gene

Relevant External Links for CEP250

Genetic Association Database (GAD)
CEP250
Human Genome Epidemiology (HuGE) Navigator
CEP250
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CEP250

No disorders were found for CEP250 Gene.

No data available for MalaCards , 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 3 4 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 3 23
  3. Nek2A kinase stimulates centrosome disjunction and is required for formation of bipolar mitotic spindles. (PMID: 12857871) Faragher A.J. … Fry A.M. (Mol. Biol. Cell 2003) 3 23
  4. The centrosomal protein C-Nap1 is required for cell cycle-regulated centrosome cohesion. (PMID: 11076968) Mayor T. … Nigg E.A. (J. Cell Biol. 2000) 3 23
  5. Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. (PMID: 25429064) He M. … Qi L. (Hum. Mol. Genet. 2015) 3

Products for CEP250 Gene

Sources for CEP250 Gene

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