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 splici... See more...

Aliases for CEP250 Gene

Aliases for CEP250 Gene

  • Centrosomal Protein 250 2 3 5
  • Centrosomal Nek2-Associated Protein 1 3 4
  • Centrosome-Associated Protein CEP250 3 4
  • 250 KDa Centrosomal Protein 3 4
  • Centrosomal Protein 2 2 4
  • C-NAP1 2 3
  • CNAP1 3 4
  • CEP2 3 4
  • Centrosomal Protein 250kDa 2
  • EC 3.1.1.61 51
  • EC 2.6.1.9 51
  • EC 4.3.2.1 51
  • CRDHL2 3
  • CEP250 5
  • Cep250 4
  • C-Nap1 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 Cone-Rod Dystrophy And Hearing Loss 2 and Usher Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. 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 Summary for CEP250 Gene

  • May be involved in ciliogenesis (PubMed:28005958). 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 , Rfam classification and piRNA Summary for CEP250 Gene

Genomics for CEP250 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CEP250 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CEP250

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
chr20:35,455,137-35,519,280
(GRCh38/hg38)
Size:
64,144 bases
Orientation:
Plus strand
chr20:34,042,985-34,099,804
(GRCh37/hg19)
Size:
56,820 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). 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).
    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 Lys1148 and Lys1577
  • Modification sites at PhosphoSitePlus

Domains & Families for CEP250 Gene

Gene Families for CEP250 Gene

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

Protein Domains for CEP250 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for CEP250 Gene

GenScript: Design optimal peptide antigens:
  • Centrosomal protein 250kDa (A6PVJ0_HUMAN)
  • Centrosomal protein 2 (CP250_HUMAN)
  • CEP250 protein (Q6IPL3_HUMAN)
genes like me logo Genes that share domains with CEP250: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CEP250 Gene

Function for CEP250 Gene

Molecular function for CEP250 Gene

UniProtKB/Swiss-Prot Function:
May be involved in ciliogenesis (PubMed:28005958). Probably plays an important role in centrosome cohesion during interphase.

Enzyme Numbers (IUBMB) for CEP250 Gene

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

Human Phenotype Ontology for CEP250 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CEP250 Gene

MGI Knock Outs for CEP250:

Animal Model Products

CRISPR Products

miRNA for CEP250 Gene

miRTarBase miRNAs that target CEP250

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP250

No data available for 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, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium, photoreceptor outer segment. Photoreceptor inner segment. 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.

Subcellular locations from

COMPARTMENTS
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
cytoskeleton 5
extracellular 4
cytosol 4
nucleus 2
plasma membrane 1
endosome 1
golgi apparatus 1

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:0001750 photoreceptor outer segment ISS --
GO:0001917 photoreceptor inner segment ISS --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 9647649
GO:0005814 colocalizes_with centriole IEA,IDA 11076968
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

mRNA/cDNA for CEP250 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP250

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

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, MaxQB, and MOPED for CEP250 Gene



Protein tissue co-expression partners for CEP250 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for CEP250 Gene

  • Blood(4.3)
  • Eye(3.3)
  • Nervous system(2.3)
  • Intestine(2)
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
Chimpanzee
(Pan troglodytes)
Mammalia CEP250 30 31
  • 99.55 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CEP250 30 31
  • 86.12 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CEP250 30 31
  • 84.98 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cep250 30
  • 82.52 (n)
Mouse
(Mus musculus)
Mammalia Cep250 30 17 31
  • 82.34 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CEP250 31
  • 60 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CEP250 31
  • 21 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CEP250 30 31
  • 55.91 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CEP250 31
  • 33 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii CEP250 31
  • 16 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Rootletin 31
  • 17 (a)
OneToMany
Species where no ortholog for CEP250 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
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
  • A6PVI9_HUMAN
  • A6PVJ0_HUMAN
  • E7ETF9_HUMAN
  • E9PHT2_HUMAN
  • G1UI40_HUMAN
  • H0Y5R2_HUMAN
  • H7C0D6_HUMAN
  • H7C0P0_HUMAN
  • Q5JWS5_HUMAN
  • Q5JWS6_HUMAN
  • Q6IPL3_HUMAN
genes like me logo Genes that share paralogs with CEP250: view

Variants for CEP250 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CEP250 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
708743 Benign: not provided 35,479,748(+) C/T SYNONYMOUS_VARIANT
713317 Benign: not provided 35,493,524(+) A/T MISSENSE_VARIANT
714187 Benign: not provided 35,504,980(+) G/A MISSENSE_VARIANT
714815 Benign: not provided 35,476,569(+) G/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
724711 Likely Benign: not provided 35,466,096(+) C/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for CEP250 Gene

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)
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

MalaCards: The human disease database

(17) MalaCards diseases for CEP250 Gene - From: OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cone-rod dystrophy and hearing loss 2
  • crdhl2
usher syndrome
  • retinitis pigmentosa-deafness syndrome
usher syndrome, type iiia
  • ush3a
sensorineural hearing loss
  • central hearing loss
usher syndrome, type i
  • ush1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CP250_HUMAN
  • Cone-rod dystrophy and hearing loss 2 (CRDHL2) [MIM:618358]: An autosomal recessive disease defined by the association of progressive cone-rod dystrophy with sensorineural hearing loss. Cone-rod dystrophy is characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269 PubMed:24780881, ECO:0000269 PubMed:29718797, ECO:0000269 PubMed:30459346, ECO:0000269 PubMed:30998843}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CEP250

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CEP250: view

No data available for 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 23
  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 23
  3. Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa. (PMID: 30998843) Huang XF … Jin ZB (Human mutation 2019) 3 4
  4. CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family. (PMID: 29718797) Kubota D … Kameya S (Ophthalmic genetics 2018) 3 4
  5. High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative. (PMID: 30459346) Fuster-García C … Millán JM (Scientific reports 2018) 3 4

Products for CEP250 Gene

Sources for CEP250 Gene