CEP290 Gene
protein-coding GIFtS: 54
GCID: GC12M088442
|
|
centrosomal protein 290kDa
| |
Aliases
for CEP290 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Centrosomal Protein 290kDa1 2 | | Tumor Antigen Se2-22 3 | | BBS141 2 3 5 | | Bardet-Biedl Syndrome 14 Protein2 3 | | CT871 2 3 | | FLJ136151 | | NPHP61 2 3 | | Centrosomal Protein Of 290 KDa2 | | JBTS51 2 5 | | CTCL Tumor Antigen Se2-22 | | LCA101 2 5 | | Meckel Syndrome, Type 42 | | SLSN61 2 5 | | Monoclonal Antibody 3H11 Antigen2 | | KIAA03731 3 5 | | Nephrocytsin-61 | | 3H11Ag1 2 | | POC3 Centriolar Protein Homolog2 | | MKS41 2 | | Prostate Cancer Antigen T212 | | POC31 2 | | Cep2903 | | Rd161 | | Nephrocystin-63 | | Cancer/Testis Antigen 872 3 | | 3H11AG5 |
Export aliases for CEP290 gene to outside databasesPrevious GC identifers: GC12M086966 GC12M085509 |
Summaries
for CEP290 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for CEP290:
This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregationATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein islocalized 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 andnephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer.(provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: CE290_HUMAN, O15078Function: Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliarymembrane composition (By similarity). Activates ATF4-mediated transcription. Required for the correct localization ofciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes
Gene Wiki entry for CEP290
|
Genomic Views
for CEP290 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000012.11 NC_018923.1 NT_029419.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CEP290 gene promoter:
CUTL1 Ik-3 NF-AT NF-AT4 E2F-1 E2F NF-AT2 NF-AT3 Sox9 NF-AT1
Other transcription factors
Search SABiosciences Chromatin IP Primers for CEP290
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CEP290 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q21.32 Ensembl cytogenetic band: 12q21.32 HGNC cytogenetic band: 12q21.33CEP290 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12M088442: view genomic region
(about GC identifiers)
Start:
|
88,442,790 bp from pter |
End:
|
88,535,993 bp from pter |
Size:
|
93,204 bases |
Orientation:
|
minus strand |
|
Proteins
for CEP290 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CE290_HUMAN, O15078 (See
protein sequence)Recommended Name: Centrosomal protein of 290 kDa Size: 2479 amino acids; 290386 Da
Subunit: Part of the tectonic-like complex (also named B9 complex) (By similarity). Interacts with ATF4 via itsN-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)
Subcellular location: Cytoplasm, cytoskeleton, centrosome. Nucleus. Cell projection, cilium. Cytoplasm, cytoskeleton,cilium basal body (By similarity). Note=Connecting cilium of photoreceptor cells, base of cilium in kidneyintramedullary collecting duct cells. Localizes at the transition zone, a region between the basal body and theciliary axoneme (By similarity)
Sequence caution: Sequence=AAG34904.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-Asequence; Sequence=AK023677; Type=Frameshift; Positions=556; Sequence=BAA20828.2; Type=Erroneous initiation;Note=Translation N-terminally extended; Sequence=BAB15196.1; Type=Miscellaneous discrepancy; Note=Contaminatingsequence. Potential poly-A sequence;
Secondary accessions: Q1PSK5 Q66GS8 Q9H2G6 Q9H6Q7 Q9H8I0Alternative splicing: 2 isoforms: O15078-1 O15078-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for CEP290: NX_O15078
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O15078
CEP290 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_079390.3
ENSEMBL proteins: ENSP00000446905 ENSP00000448012 ENSP00000448573 ENSP00000448256 ENSP00000447623 ENSP00000447527 ENSP00000308021 ENSP00000380938 Reactome Protein details: O15078
Human Recombinant Protein Products:
Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table
CEP290 for ontologies About GeneDecksing
CEP290 Antibody Products:
Assay Products for CEP290: |
Protein
Domains /
Families
for CEP290 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CEP290 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry O15078ProtoNet protein and cluster: O15078 |
Function
for CEP290 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: CE290_HUMAN, O15078Function: Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliarymembrane composition (By similarity). Activates ATF4-mediated transcription. Required for the correct localization ofciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CEP290 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CEP290 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: CEP290 (NM_025114) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CEP290 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CEP290 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP290 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
CEP290 for ontologies About GeneDecksing
Animal Models:
Mouse knock-outs for CEP290: Cep290tm1.1Jgg Cep290tm1Jgg
11 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Cep290):
CEP290 for phenotypes About GeneDecksing
|
Pathways & Interactions
for CEP290 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Recruitment of mitotic centrosome proteins and complexes | | | 2 | Cell Cycle | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/8 
Reactome Pathways for CEP290 (see all 8)
CEP290 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CEP290
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/82 Interacting proteins for CEP290 (O150781, 2, 3 ENSP000003080214) via UniProtKB, MINT, STRING, and/or I2D (see all 82)About this table
Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table
CEP290 for ontologies About GeneDecksing
|
Drugs & Compounds
for CEP290 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for CEP290
Search CenterWatch for drugs/clinical trials and news about CEP290 / CE290
|
Transcripts
for CEP290 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CEP290 gene: NM_025114.3 Unigene Cluster for CEP290: Centrosomal protein 290kDa Hs.150444 [show with all ESTs]Unigene Representative Sequence: NM_0251148 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000547691(uc001taq.3) ENST00000552810(uc001tar.3) ENST00000547926(uc009zsl.1)
ENST00000548323 ENST00000550962 ENST00000552770 ENST00000309041(uc001tat.3)
ENST00000397838
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CEP290 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CEP290 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: CEP290 (NM_025114) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CEP290 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CEP290 |
Additional cDNA sequence: AB002371.1 AF273044.1 AF403227.1 AK023677.1 AK025632.1 AY590151.1 BC008641.1 BC043398.1 BX537653.1 DQ109808.1 8 DOTS entries: DT.95185699 DT.212011 DT.75158243 DT.97773774 DT.95301625 DT.97766373 DT.100028108 DT.208497 24/105 AceView cDNA sequences (see all 105): AF273044 BM693517 CB139803 AW770251 AL049146 BX494116 BQ186123 AI350623 BU162108 AU117016 CA449234 BG113046 AA805758 BU676074 BC043398 BM703076 BU182003 CB133903 AL079690 AU126944 AA251224 AU139571 BC008641 AK025632
GeneLoc Exon Structure
|
Expression
for CEP290 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CEP290 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAAAAGGAGT
About this image
See CEP290 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CEP290
SOURCE GeneReport for Unigene cluster: Hs.150444
UniProtKB/Swiss-Prot: CE290_HUMAN, O15078Tissue specificity: Ubiquitous. Expressed strongly in placenta and weakly in brain
SABiosciences Custom PCR Arrays for CEP290
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CEP290
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat CEP290 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CEP290 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CEP290 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP290 |
Orthologs
for CEP290 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for CEP290 gene from 4/15 species (see all 15) About this table
ENSEMBL Gene Tree for CEP290 (if available)
TreeFam Gene Tree for CEP290 (if available) |
Paralogs
for CEP290 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CEP290 gene
- TPR2
CEP290 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for CEP290
PGOHUM00000249425
|
Genomic Variants
for CEP290 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 12 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CEP290 (88442790 - 88535993 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CEP290: --
Human Gene Mutation Database (HGMD): CEP290
Locus Specific Mutation Databases (LSDB): CEP290
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CEP290 |
|
Disorders
/ Diseases
for CEP290 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CEP290 for disorders About GeneDecksing
OMIM gene information: 610142
OMIM disorders: 610188 610189 611755 611134 209900
UniProtKB/Swiss-Prot: CE290_HUMAN, O15078
Defects in CEP290 are a cause of Joubert syndrome type 5 (JBTS5) [MIM:610188]. Joubert syndrome is anautosomal recessive disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles(the 'molar tooth sign' on axial magnetic resonance imaging), psychomotor delay, hypotonia, ataxia, oculomotor apraxiaand neonatal breathing abnormalities. JBTS5 shares the neurologic and neuroradiologic features of Joubert syndrometogether with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis Defects in CEP290 are a cause of Senior-Loken syndrome type 6 (SLSN6) [MIM:610189]. Senior-Loken syndrome isalso known as juvenile nephronophthisis with Leber amaurosis. It is an autosomal recessive renal-retinal disorder,characterized by progressive wasting of the filtering unit of the kidney, with or without medullary cystic renaldisease, and progressive eye disease Defects in CEP290 are the cause of Leber congenital amaurosis type 10 (LCA10) [MIM:611755]. LCA designates aclinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomalrecessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography.LCA represents the most common genetic cause of congenital visual impairment in infants and children Defects in CEP290 are the cause of Meckel syndrome type 4 (MKS4) [MIM:611134]. MKS4 is an autosomal recessivedisorder characterized by a combination of renal cysts and variably associated features including developmentalanomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly Note=Antibodies against CEP290 are present in sera from patients with cutaneous T-cell lymphomas, but not inthe healthy control population Defects in CEP290 are the cause of Bardet-Biedl syndrome type 14 (BBS14) [MIM:209900]. A syndromecharacterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renalmalformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heartdisease. Inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a secondlocus) may be required for disease manifestation in some cases (triallelic inheritance)
20/41  diseases for CEP290 (see all 41): About MalaCardsbardet-biedl syndrome 14 bardet-biedl syndrome meckel syndrome type 4 joubert syndrome
meckel syndrome senior-loken syndrome senior-loken syndrome 6 nephronophthisis
leber congenital amaurosis 10 leber congenital amaurosis cone-rod dystrophy oculomotor apraxia
prostate cancer encephalocele encephaloceles joubert syndrome and related disorders
apraxia prostatitis orofaciodigital syndrome pigmentary retinopathy
8 diseases from the University of Copenhagen DISEASES database for CEP290:Leber congenital amaurosis Nephronophthisis Fundus dystrophy Seckel syndrome
Polydactyly Cystic kidney Retinal degeneration Blindness GeneTests: CEP290
Joubert SyndromeLeber Congenital AmaurosisBardet-Biedl Syndrome
Human Genome Epidemiology (HuGE) Navigator: CEP290 (6 documents)
Export disorders for CEP290 gene to outside databases
|
Publications
for CEP290 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for CEP290 gene, integrated from 9 sources (see all 63):
(articles sorted by number of sources associating them with CEP290) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. (PubMed id 16682973)1, 2, 3, 9 Sayer J.A.... Hildebrandt F. (2006)
- Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. (PubMed id 16909394)1, 2, 9 den Hollander A.I....Cremers F.P.M. (2006)
- Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. (PubMed id 16682970)1, 2, 9 Valente E.M.... Gleeson J.G. (2006)
- Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. (PubMed id 20683928)1, 2 Coppieters F.... De Baere E. (2010)
- Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. (PubMed id 18327255)1, 2 Leitch C.C....Katsanis N. (2008)
- CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. (PubMed id 18950740)1, 2 Gorden N.T....Doherty D. (2008)
- CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. (PubMed id 17564967)1, 2 Brancati F....Gleeson J.G. (2007)
- Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome. (PubMed id 17617513)1, 2 Helou J....Hildebrandt F. (2007)
- Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. (PubMed id 17564974)1, 2 Baala L....Attie-Bitach T. (2007)
- In-frame deletion in a novel centrosomal/ciliary prot ein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. (PubMed id 16632484)1, 3 Chang B....Swaroop A. (2006)
|
External Searches for CEP290 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CEP290 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CEP290 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing CEP290 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for CEP290 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CEP290 | | CEP290 Mutation Database | http://medgen.ugent.be/cep290base/index.php |
|
| | |
About This Section
| Patent Information for CEP290 gene:
Search GeneIP for patents involving CEP290
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for CEP290 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for CEP290 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CEP290 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CEP290 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for CEP290 | | OriGene 3'-UTR Clone for CEP290 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CEP290 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CEP290 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for CEP290 | | OriGene Custom Protein Services for CEP290 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CEP290 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CEP290 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CEP290 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CEP290 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CEP290 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CEP290 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for CEP290 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | CEP290 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP290 |
|  |  |  | | | | Search ThermoFisher Antibodies for CEP290 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CEP290 |
|
|
|
|
