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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
  • C-NAP1 3 4
  • CNAP1 3 4
  • CEP2 3 4
  • Centrosome-Associated Protein CEP250 3
  • Centrosomal Protein 250kDa 2
  • EC 3.1.1.61 61
  • EC 2.6.1.9 61
  • EC 4.3.2.1 61
  • 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 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

Enhancers for CEP250 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F035479 0.6 ENCODE 11.5 +24.1 24132 0.2 CTCF TEAD1 CEBPB REST ZNF48 RAD21 TEAD3 TGIF2 CEBPA MBD1 CEP250 GDF5 MIR1289-1 ENSG00000242507 C20orf173 NFS1 ROMO1 GDF5OS CNBD2 LOC102725201
GH20F035404 0.2 ENCODE 11 -50.1 -50067 0.2 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 SLC30A9 GDF5OS CEP250 LOC102725201 UQCC1 FAM83C
GH20F035635 0.8 Ensembl 11 +180.9 180863 0.4 GATAD2A ELF3 SOX5 TEAD1 ZFP64 CEBPB MXD4 HMG20A THRB TEAD3 CEP250 NFS1 ROMO1 LOC102725201 TRPC4AP GC20M035637 GC20M035638 GC20P035617
GH20F035637 0.2 ENCODE 11 +182.3 182315 0.2 CPNE1 CEP250 NFS1 ROMO1 LOC102725201 GC20M035637 GC20M035638 RN7SKP271
GH20F035301 1.4 FANTOM5 Ensembl ENCODE 11 -149.1 -149132 9.0 PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 UQCC1 NCOA6 GDF5 RPL36P4 MMP24-AS1 EDEM2 MMP24 CEP250 MIR1289-1 RBM12
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CEP250 on UCSC Golden Path with GeneCards custom track

Promoters for CEP250 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000400294 -38 2600 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9

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

Selected DME Specific Peptides for CEP250 Gene

Q9BV73:
  • QALEEVL
  • CLRLTVG
  • QQLQQAL

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

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

Inhibitory RNA Products

Flow Cytometry Products

No data available for 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: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

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:0010457 centriole-centriole cohesion IMP 11076968
genes like me logo Genes that share ontologies with CEP250: view

Transcripts for CEP250 Gene

Unigene Clusters for CEP250 Gene

Centrosomal protein 250kDa:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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: -
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 from GTEx, Illumina, BioGPS, and 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, PaxDb, MaxQB, and MOPED for CEP250 Gene



Protein tissue co-expression partners for CEP250 Gene

NURSA nuclear receptor signaling pathways regulating expression of CEP250 Gene:

CEP250

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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia CEP250 34 35
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia CEP250 34 35
  • 86.12 (n)
cow
(Bos Taurus)
Mammalia CEP250 34 35
  • 84.98 (n)
rat
(Rattus norvegicus)
Mammalia Cep250 34
  • 82.52 (n)
mouse
(Mus musculus)
Mammalia Cep250 34 16 35
  • 82.34 (n)
oppossum
(Monodelphis domestica)
Mammalia CEP250 35
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEP250 35
  • 21 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEP250 34 35
  • 55.91 (n)
lizard
(Anolis carolinensis)
Reptilia CEP250 35
  • 33 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CEP250 35
  • 16 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Rootletin 35
  • 17 (a)
OneToMany
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

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
rs10359 -- 35,511,960(+) CCCTG(A/G)GATCT intron-variant, utr-variant-3-prime
rs10439606 -- 35,480,335(+) TCCCT(A/G)TATGT intron-variant, upstream-variant-2KB
rs10649518 -- 35,467,944(+) TTTTT(-/TTT)TTGAG intron-variant, upstream-variant-2KB
rs111326623 -- 35,500,828(+) GGAAG(A/G)AGAGA intron-variant
rs111334264 -- 35,472,051(+) TCAGG(A/G)GACAA nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime

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)

Relevant External Links for CEP250 Gene

Human Gene Mutation Database (HGMD)
CEP250
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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. 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 4 22 64
  2. 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 22 64
  3. MDM1 is a microtubule-binding protein that negatively regulates centriole duplication. (PMID: 26337392) Van de Mark D. … Stearns T. (Mol. Biol. Cell 2015) 3 4 64
  4. Centlein mediates an interaction between C-Nap1 and Cep68 to maintain centrosome cohesion. (PMID: 24554434) Fang G. … Yuan L. (J. Cell. Sci. 2014) 3 4 64
  5. Centrosome-related genes, genetic variation, and risk of breast cancer. (PMID: 20508983) Olson J.E. … Couch F.J. (Breast Cancer Res. Treat. 2011) 3 46 64

Products for CEP250 Gene

Sources for CEP250 Gene

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