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Aliases for CEP290 Gene

Aliases for CEP290 Gene

  • Centrosomal Protein 290kDa 2 3
  • Cancer/Testis Antigen 87 2 3 4
  • BBS14 3 4 6
  • Bardet-Biedl Syndrome 14 Protein 3 4
  • Tumor Antigen Se2-2 3 4
  • Nephrocystin-6 2 4
  • KIAA0373 4 6
  • 3H11AG 3 6
  • JBTS5 3 6
  • SLSN6 3 6
  • LCA10 3 6
  • NPHP6 3 4
  • CT87 3 4
  • POC3 Centriolar Protein Homolog (Chlamydomonas) 2
  • Monoclonal Antibody 3H11 Antigen 3
  • POC3 Centriolar Protein Homolog 3
  • Centrosomal Protein Of 290 KDa 3
  • Prostate Cancer Antigen T21 3
  • CTCL Tumor Antigen Se2-2 3
  • Meckel Syndrome, Type 4 3
  • Joubert Syndrome 5 2
  • Meckel Syndrome 2
  • Nephrocytsin-6 3
  • CEP290 4
  • Type 4 2
  • MKS4 3
  • POC3 3
  • Rd16 3

External Ids for CEP290 Gene

Previous GeneCards Identifiers for CEP290 Gene

  • GC12M086966
  • GC12M088442
  • GC12M085509

Summaries for CEP290 Gene

Entrez Gene Summary for CEP290 Gene

  • This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]

GeneCards Summary for CEP290 Gene

CEP290 (Centrosomal Protein 290kDa) is a Protein Coding gene. Diseases associated with CEP290 include joubert syndrome 5 and senior-loken syndrome 6. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include microtubule minus-end binding.

UniProtKB/Swiss-Prot for CEP290 Gene

  • Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Activates ATF4-mediated transcription. Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes.

Gene Wiki entry for CEP290 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP290 Gene

Genomics for CEP290 Gene

Regulatory Elements for CEP290 Gene

Genomic Location for CEP290 Gene

Start:
88,049,013 bp from pter
End:
88,142,216 bp from pter
Size:
93,204 bases
Orientation:
Minus strand

Genomic View for CEP290 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CEP290 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP290 Gene

Proteins for CEP290 Gene

  • Protein details for CEP290 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15078-CE290_HUMAN
    Recommended name:
    Centrosomal protein of 290 kDa
    Protein Accession:
    O15078
    Secondary Accessions:
    • Q1PSK5
    • Q66GS8
    • Q9H2G6
    • Q9H6Q7
    • Q9H8I0

    Protein attributes for CEP290 Gene

    Size:
    2479 amino acids
    Molecular mass:
    290386 Da
    Quaternary structure:
    • Part of the tectonic-like complex (also named B9 complex) (By similarity). Interacts with ATF4 via its N-terminal region. Part of selected centrosomal and microtubule-associated protein complexes. Interacts with IQCB1. Interacts with ZNF423. Interacts with FAM161A. Interacts with RPGR (By similarity). Interacts with CEP162. Interacts with CEP131. Associates with microtubule; association to microtubule is reduced in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, in a process that requires p38 MAP kinase signaling. Interacts with CCDC13 (PubMed:24816561).
    SequenceCaution:
    • Sequence=AAG34904.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AK023677; Type=Frameshift; Positions=556; Evidence={ECO:0000305}; Sequence=BAA20828.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15196.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for CEP290 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP290 Gene

Proteomics data for CEP290 Gene at MOPED

Post-translational modifications for CEP290 Gene

  • Ubiquitinated. May undergo monoubiquitination; monoubiquitination is inhibited in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, but does not cause it displacement from centriolar satellites.
  • Ubiquitination at Lys735, Lys1033, Lys1045, and Lys2322
  • Modification sites at PhosphoSitePlus

Other Protein References for CEP290 Gene

No data available for DME Specific Peptides for CEP290 Gene

Domains for CEP290 Gene

Protein Domains for CEP290 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEP290 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CEP290: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CEP290 Gene

Function for CEP290 Gene

Molecular function for CEP290 Gene

UniProtKB/Swiss-Prot Function: Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Activates ATF4-mediated transcription. Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes.

Gene Ontology (GO) - Molecular Function for CEP290 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16682973
GO:0051011 NOT microtubule minus-end binding IDA 16682973
genes like me logo Genes that share ontologies with CEP290: view
genes like me logo Genes that share phenotypes with CEP290: view

Animal Models for CEP290 Gene

MGI Knock Outs for CEP290:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CEP290 Gene

Localization for CEP290 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP290 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Nucleus. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Note=Connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells. Localizes at the transition zone, a region between the basal body and the ciliary axoneme (By similarity). Displaced from centriolar satellites in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CEP290 Gene COMPARTMENTS Subcellular localization image for CEP290 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CEP290 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000930 colocalizes_with gamma-tubulin complex IDA 16682973
GO:0005634 nucleus IDA 16682973
GO:0005737 cytoplasm IDA 14654843
GO:0005813 centrosome IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CEP290: view

Pathways for CEP290 Gene

genes like me logo Genes that share pathways with CEP290: view

Gene Ontology (GO) - Biological Process for CEP290 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:0007163 establishment or maintenance of cell polarity IEA --
GO:0015031 protein transport ISS --
genes like me logo Genes that share ontologies with CEP290: view

Transcripts for CEP290 Gene

Unigene Clusters for CEP290 Gene

Centrosomal protein 290kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CEP290 Gene

No ASD Table

Relevant External Links for CEP290 Gene

GeneLoc Exon Structure for
CEP290
ECgene alternative splicing isoforms for
CEP290

Expression for CEP290 Gene

mRNA expression in normal human tissues for CEP290 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CEP290 Gene

SOURCE GeneReport for Unigene cluster for CEP290 Gene Hs.150444

mRNA Expression by UniProt/SwissProt for CEP290 Gene

O15078-CE290_HUMAN
Tissue specificity: Ubiquitous. Expressed strongly in placenta and weakly in brain.
genes like me logo Genes that share expressions with CEP290: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CEP290 Gene

Orthologs for CEP290 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP290 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CEP290 35
  • 99.35 (n)
  • 99.07 (a)
CEP290 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CEP290 35
  • 87.73 (n)
  • 84.86 (a)
CEP290 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CEP290 35
  • 91.86 (n)
  • 92.25 (a)
CEP290 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cep290 35
  • 85.97 (n)
  • 87.37 (a)
Cep290 16
Cep290 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CEP290 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 88 (a)
OneToMany
-- 36
  • 81 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cep290 35
  • 86.48 (n)
  • 87.41 (a)
chicken
(Gallus gallus)
Aves CEP290 35
  • 73.99 (n)
  • 70.38 (a)
CEP290 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEP290 36
  • 71 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cep290 35
  • 59.97 (n)
  • 58.61 (a)
cep290 36
  • 58 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToOne
Species with no ortholog for CEP290:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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 CEP290 Gene

ENSEMBL:
Gene Tree for CEP290 (if available)
TreeFam:
Gene Tree for CEP290 (if available)

Paralogs for CEP290 Gene

Pseudogenes.org Pseudogenes for CEP290 Gene

genes like me logo Genes that share paralogs with CEP290: view

No data available for Paralogs for CEP290 Gene

Variants for CEP290 Gene

Sequence variations from dbSNP and Humsavar for CEP290 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs2468220 -- 88,129,370(+) TAATA(C/T)ATTTA intron-variant
rs2468221 -- 88,138,640(+) AAAGC(C/T)TCTAT intron-variant
rs2468239 -- 88,050,783(+) GTAAG(A/G)GACTA intron-variant
rs2468240 -- 88,050,815(+) CTCCC(A/G)CTATC intron-variant
rs2468241 -- 88,052,645(+) tacac(A/G)catat intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CEP290 Gene

Variant ID Type Subtype PubMed ID
nsv899418 CNV Gain 21882294
esv2157492 CNV Deletion 18987734
esv1473323 CNV Insertion 17803354
nsv807 CNV Loss 18451855

Relevant External Links for CEP290 Gene

HapMap Linkage Disequilibrium report
CEP290
Human Gene Mutation Database (HGMD)
CEP290
Locus Specific Mutation Databases (LSDB)
CEP290

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP290 Gene

Disorders for CEP290 Gene

(5) OMIM Diseases for CEP290 Gene (610142)

UniProtKB/Swiss-Prot

CE290_HUMAN
  • Joubert syndrome 5 (JBTS5) [MIM:610188]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis. {ECO:0000269 PubMed:16682970, ECO:0000269 PubMed:16682973, ECO:0000269 PubMed:22425360}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Senior-Loken syndrome 6 (SLSN6) [MIM:610189]: A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. {ECO:0000269 PubMed:20683928}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Leber congenital amaurosis 10 (LCA10) [MIM:611755]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269 PubMed:16909394}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Meckel syndrome 4 (MKS4) [MIM:611134]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269 PubMed:17564974}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Antibodies against CEP290 are present in sera from patients with cutaneous T-cell lymphomas, but not in the healthy control population. {ECO:0000269 PubMed:11149944}.
  • Bardet-Biedl syndrome 14 (BBS14) [MIM:615991]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269 PubMed:18327255}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CEP290

GeneTests
CEP290
GeneReviews
CEP290
Genetic Association Database (GAD)
CEP290
Human Genome Epidemiology (HuGE) Navigator
CEP290
genes like me logo Genes that share disorders with CEP290: view

Publications for CEP290 Gene

  1. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. (PMID: 16682973) Sayer J.A. … Hildebrandt F. (Nat. Genet. 2006) 2 3 4 23
  2. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. (PMID: 16909394) den Hollander A.I. … Cremers F.P.M. (Am. J. Hum. Genet. 2006) 3 4 23
  3. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. (PMID: 16682970) Valente E.M. … Gleeson J.G. (Nat. Genet. 2006) 3 4 23
  4. Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. (PMID: 20683928) Coppieters F. … De Baere E. (Hum. Mutat. 2010) 3 4
  5. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. (PMID: 21565611) Sang L. … Jackson P.K. (Cell 2011) 3 4

Products for CEP290 Gene

Sources for CEP290 Gene

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