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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. Mutati... See more...
Aliases for CEP290 Gene
Aliases for CEP290 Gene
- Centrosomal Protein 290 2 3 5
- Cancer/Testis Antigen 87 2 3 4
- BBS14 2 3 4
- NPHP6 2 3 4
- CT87 2 3 4
- Bardet-Biedl Syndrome 14 Protein 3 4
- Centrosomal Protein Of 290 KDa 3 4
- Centrosomal Protein 290kDa 2 3
- Meckel Syndrome, Type 4 2 3
- Tumor Antigen Se2-2 3 4
- Nephrocystin-6 2 4
- KIAA0373 2 4
- 3H11Ag 2 3
- JBTS5 2 3
- LCA10 2 3
- SLSN6 2 3
- MKS4 2 3
- POC3 2 3
- Rd16 2 3
- POC3 Centriolar Protein Homolog (Chlamydomonas) 2
- Monoclonal Antibody 3H11 Antigen 3
- POC3 Centriolar Protein Homolog 3
- Prostate Cancer Antigen T21 3
- Bardet-Biedl Syndrome 14 2
- CTCL Tumor Antigen Se2-2 3
- Joubert Syndrome 5 2
- Nephrocytsin-6 3
- FLJ13615 2
- CEP290 5
- Cep290 4
External Ids for CEP290 Gene
- HGNC: 29021
- Entrez Gene: 80184
- Ensembl: ENSG00000198707
- OMIM: 610142
- UniProtKB: O15078
Previous GeneCards Identifiers for CEP290 Gene
- GC12M086966
- GC12M088442
- GC12M085509
Summaries 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 290) is a Protein Coding gene. Diseases associated with CEP290 include Joubert Syndrome 5 and Senior-Loken Syndrome 6. 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 microtubule minus-end binding.
UniProtKB/Swiss-Prot Summary for CEP290 Gene
-
Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (PubMed:18694559). May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1 (PubMed:24421332). Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes (By similarity). Required for efficient recruitment of RAB8A to primary cilium (PubMed:17705300). In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2, BBS5 and BBS8/TTC8 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating IQCB1/NPHP5 (PubMed:25552655). Activates ATF4-mediated transcription (PubMed:16682973).
Additional gene information for CEP290 Gene
- HGNC(29021)
- Entrez Gene(80184)
- Ensembl(ENSG00000198707)
- OMIM(610142)
- UniProtKB(O15078)
- Open Targets Platform(ENSG00000198707)
- Monarch Initiative
- Search for CEP290 at DataMed
- Search for CEP290 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CEP290 Gene
Genomics for CEP290 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CEP290 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 CEP290 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CEP290
- Top Transcription factor binding sites by QIAGEN in the CEP290 gene promoter:
-
- CUTL1
- E2F
- E2F-1
- Ik-3
- NF-AT
- NF-AT1
- NF-AT2
- NF-AT3
- NF-AT4
- Sox9
Genomic Locations for CEP290 Gene
Genomic Locations for CEP290 Gene
- chr12:88,049,013-88,142,216
- (GRCh38/hg38)
- Size:
- 93,204 bases
- Orientation:
- Minus strand
- chr12:88,442,790-88,535,993
- (GRCh37/hg19)
- Size:
- 93,204 bases
- Orientation:
- Minus strand
Genomic View for CEP290 Gene
Genes around CEP290 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q21.32 by HGNC
- 12q21.32 by Entrez Gene
- 12q21.32 by Ensembl
CEP290 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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 (PubMed:16682973). Associates with the BBSome complex (PubMed:25552655, PubMed:23943788), interacting (via N-terminus) with BBS4 (PubMed:23943788). Interacts with IQCB1/NPHP5; IQCB1 and CEP290/NPHP6 are proposed to form a functional NPHP5-6 module localized to the centrosome. Interacts with NPHP4; the interaction likely requires additional interactors. Interacts with ZNF423, FAM161A, CEP162, CEP162, CEP131, TALPID3, CCDC13, CC2D2A, RPGRIP1 (PubMed:18950740, PubMed:18723859, PubMed:21565611, PubMed:22863007, PubMed:22940612, PubMed:22797915, PubMed:23446637, PubMed:23644468, PubMed:24421332, PubMed:24816561, PubMed:20200501). Can self-associate (homo- or heteromeric) (PubMed:18723859). Interacts with CCP110; required for suppressing cilia formation (PubMed:18694559). Interacts with RPGR (By similarity). Associates (via C-terminus) with microtubules (PubMed:24121310, PubMed:24051377); 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 (PubMed:24121310). Interacts with FAM161A (By similarity). Interacts with PCM1 (By similarity). Interacts with CCDC66 (PubMed:28235840).
- SequenceCaution:
-
- Sequence=AAG34904.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AK023677; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB15196.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
Protein Expression for CEP290 Gene
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 Lys1033, Lys1045, Lys735, and Lys2322
- NX_O15078 (NX_O15078-1)
- Modification sites at PhosphoSitePlus
Other Protein References for CEP290 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences CEP290 Antibody
- G Biosciences Immunotag™ CEP290 Antibody
-
Custom Antibody ServicesOriGene Antibodies for CEP290
- Novus Biologicals Antibodies for CEP290
-
Abcam antibodies for CEP290
- Invitrogen Antibodies for CEP290 (AFLGC-Cep290)
-
Santa Cruz Biotechnology (SCBT) Antibodies for CEP290
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CEP290
- Origene Custom Protein Services for CEP290
- Novus Biologicals proteins for CEP290
-
Signalway Proteins for CEP290
-
Abcam proteins for CEP290
Assay Products
- antibodies-online: Show 13 available CEP290 Elisa Kits ranked by validation data
- Compare Top CEP290 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for CEP290 Gene
Domains & Families for CEP290 Gene
Gene Families for CEP290 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for CEP290 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CEP290 Gene
- GenScript: Design optimal peptide antigens:
-
- Tumor antigen se2-2 (CE290_HUMAN)
- CEP290 protein (Q05BJ6_HUMAN)
- CEP290 protein (Q96HG2_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CEP290 Gene
Function for CEP290 Gene
Molecular function for CEP290 Gene
- UniProtKB/Swiss-Prot Function:
- Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (PubMed:18694559). May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1 (PubMed:24421332). Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes (By similarity). Required for efficient recruitment of RAB8A to primary cilium (PubMed:17705300). In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2, BBS5 and BBS8/TTC8 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating IQCB1/NPHP5 (PubMed:25552655). Activates ATF4-mediated transcription (PubMed:16682973).
Phenotypes From GWAS Catalog for CEP290 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 16682973 |
| GO:0042802 | identical protein binding | IPI | 18723859 |
| GO:0051011 | NOT microtubule minus-end binding | IDA | 16682973 |
Phenotypes for CEP290 Gene
- MGI mutant phenotypes for CEP290:
-
inferred from 8 alleles
- nervous system phenotype
- immune system phenotype
- respiratory system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- reproductive system phenotype
- vision/eye phenotype
- skeleton phenotype
- hematopoietic system phenotype
- pigmentation phenotype
- craniofacial phenotype
- taste/olfaction phenotype
- GenomeRNAi human phenotypes for CEP290:
Animal Models for CEP290 Gene
- MGI Knock Outs for CEP290:
-
- Cep290 Cep290<tm1.1Jgg>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CEP290 - Select products 50% OFF >
- * CEP290 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CEP290
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CEP290
-
Santa Cruz Biotechnology (SCBT) CRISPR for CEP290
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CEP290
- Browse OriGene Inhibitory RNA Products For CEP290
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP290
Clone Products
- Applied Biological Materials (abm): Clones for CEP290 - Select products 50% OFF >
- * CEP290 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CEP290
Cell Line Products
-
Horizon Cell Lines for CEP290
No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets 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. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasmic vesicle. Note=Displaced from centriolar satellites in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock (PubMed:24121310). Found in the connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells (By similarity). Localizes at the transition zone, a region between the basal body and the ciliary axoneme (PubMed:23943788). Localization at the ciliary transition zone as well as at centriolar satellites is BBsome-dependent (PubMed:23943788). {ECO:0000250 UniProtKB:Q6A078, ECO:0000269 PubMed:23943788, ECO:0000269 PubMed:24121310}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 5 |
| extracellular | 4 |
| cytosol | 4 |
| plasma membrane | 2 |
| mitochondrion | 2 |
| golgi apparatus | 2 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
- Centrosome (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000930 | colocalizes_with gamma-tubulin complex | IDA | 16682973 |
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005634 | nucleus | IEA,IDA | 16682973 |
| GO:0005737 | cytoplasm | IEA,IDA | 14654843 |
| GO:0005813 | colocalizes_with centrosome | IDA | 24648492 |
Pathways & Interactions for CEP290 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of PLK1 Activity at G2/M Transition |
.50
|
|
| 2 | Innate Immune System |
.61
|
|
| 3 | Cell Cycle, Mitotic |
.83
|
|
| 4 | Organelle biogenesis and maintenance |
.56
|
|
Pathways by source for CEP290 Gene
16 Reactome pathways for CEP290 Gene
Interacting Proteins for CEP290 Gene
Selected Interacting proteins:
O15078-CE290_HUMAN
ENSP00000448012
for CEP290 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CEP290
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000086 | G2/M transition of mitotic cell cycle | TAS | -- |
| GO:0010389 | regulation of G2/M transition of mitotic cell cycle | TAS | -- |
| GO:0015031 | protein transport | ISS | -- |
| GO:0030030 | cell projection organization | IEA | -- |
| GO:0030902 | hindbrain development | ISS | 16682973 |
Drugs & Compounds for CEP290 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Cysteine | Approved | Nutra | 250 |
Transcripts for CEP290 Gene
mRNA/cDNA for CEP290 Gene
- 1 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000672647 5968 nts (view in UCSC)
- ENST00000552810 7824 nts (view in UCSC)
- ENST00000547691 3524 nts (view in UCSC)
- ENST00000673058 2289 nts (view in UCSC)
- ENST00000672414 7376 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CEP290 - Select products 50% OFF >
- * CEP290 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CEP290
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CEP290
-
Santa Cruz Biotechnology (SCBT) CRISPR for CEP290
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CEP290
- Browse OriGene Inhibitory RNA Products For CEP290
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP290
Clone Products
- Applied Biological Materials (abm): Clones for CEP290 - Select products 50% OFF >
- * CEP290 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CEP290
Relevant External Links for CEP290 Gene
- GeneLoc Exon Structure for
- CEP290
Expression for CEP290 Gene
This gene is overexpressed in Brain (35.7) and Breast (7.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CEP290 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CEP290
SOURCE GeneReport for Unigene cluster for CEP290 Gene:
Hs.150444mRNA Expression by UniProt/SwissProt for CEP290 Gene:
O15078-CE290_HUMAN
Tissue specificity:
Ubiquitous. Expressed strongly in placenta and weakly in brain.
Evidence on tissue expression from TISSUES for CEP290 Gene
- Nervous system(4.6)
- Blood(4.4)
- Eye(3.1)
- Kidney(2.8)
- Skin(2.2)
- Liver(2.2)
- Lung(2.1)
- Heart(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP290 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- larynx
- lip
- mandible
- maxilla
- meninges
- middle ear
- mouth
- neck
- nose
- olfactory bulb
- outer ear
- pituitary gland
- skull
- tongue
- tooth
Thorax:
- aorta
- breast
- bronchus
- clavicle
- diaphragm
- esophagus
- heart
- heart valve
- lung
Abdomen:
- abdominal wall
- adrenal gland
- biliary tract
- duodenum
- gallbladder
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- spleen
- stomach
Pelvis:
- anus
- ovary
- pelvis
- penis
- placenta
- prostate
- rectum
- testicle
- ureter
- urethra
- urinary bladder
- uterus
- vagina
- vulva
Limb:
- ankle
- arm
- digit
- femur
- fibula
- finger
- foot
- forearm
- hand
- humerus
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
General:
- blood
- blood vessel
- hair
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal column
- spinal cord
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for CEP290
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for CEP290 Gene
Orthologs for CEP290 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CEP290 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CEP290 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Cow (Bos Taurus) |
Mammalia | CEP290 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Cep290 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Cep290 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CEP290 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CEP290 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CEP290 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | cep290 30 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for CEP290 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)
- 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for CEP290: view image
Paralogs for CEP290 Gene
Pseudogenes.org Pseudogenes for CEP290 Gene
No data available for Paralogs for CEP290 Gene
Variants for CEP290 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CEP290 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 635087 | Likely Pathogenic: Joubert syndrome 5 | 88,083,863(-) | AATTT/A | FRAMESHIFT_VARIANT | |
| 636006 | Pathogenic: Retinal dystrophy; Leber congenital amaurosis; not provided | 88,077,345(-) | C/G | SPLICE_ACCEPTOR_VARIANT | |
| 636007 | Likely Pathogenic: Leber congenital amaurosis | 88,055,665(-) | G/A | NONSENSE | |
| 636217 | Uncertain Significance: Retinitis pigmentosa | 88,106,801(-) | T/C | MISSENSE_VARIANT | |
| 638813 | Uncertain Significance: Nephronophthisis; Joubert syndrome; Meckel-Gruber syndrome | 88,086,093(-) | C/A | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2772n54 | CNV | loss | 21841781 |
| esv1473323 | CNV | insertion | 17803354 |
| esv2157492 | CNV | deletion | 18987734 |
| esv3580370 | CNV | loss | 25503493 |
| esv3892241 | CNV | gain | 25118596 |
| nsv474490 | CNV | novel sequence insertion | 20440878 |
| nsv483111 | CNV | loss | 15286789 |
| nsv807 | CNV | deletion | 18451855 |
Residual Variation Intolerance Score:
85% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
9.58;
88.99% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CEP290 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP290 Gene
Disorders for CEP290 Gene
(99) MalaCards diseases for CEP290 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| joubert syndrome 5 |
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| senior-loken syndrome 6 |
|
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| bardet-biedl syndrome 14 |
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| leber congenital amaurosis 10 |
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| meckel syndrome, type 4 |
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Search CEP290 in MalaCards
View complete list of genes associated with diseases
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, ECO:0000269 PubMed:26166481, ECO:0000269 PubMed:26477546}. 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.
Additional Disease Information for CEP290
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for CEP290 Gene
Publications for CEP290 Gene
- The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. (PMID: 16682973) Sayer JA … Hildebrandt F (Nature genetics 2006) 2 3 4 23
- Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. (PMID: 17705300) Frank V … Bergmann C (Human mutation 2008) 3 4 23
- Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. (PMID: 16909394) den Hollander AI … Cremers FP (American journal of human genetics 2006) 3 4 23
- Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. (PMID: 16682970) Valente EM … Gleeson JG (Nature genetics 2006) 3 4 23
- The centriolar satellite protein CCDC66 interacts with CEP290 and functions in cilium formation and trafficking. (PMID: 28235840) Conkar D … Firat-Karalar EN (Journal of cell science 2017) 3 4
ExternalLinks
Products for CEP290 Gene
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- Signalway Proteins for CEP290
Sources for CEP290 Gene
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