CEP290 - centrosomal protein 290 Gene

Also Known as CT87; MKS4; POC3; rd16; BBS14; JBTS5; LCA10; NPHP6; SLSN6; 3H11Ag

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80184

About CEP290

Cytogenetic location: 12q21.32 Genomic coordinates (GRCh38): 12:88,049,016-88,142,088 (from NCBI)

This gene has 34 transcripts (splice variants), 230 orthologues and is associated with 11 phenotypes. Ubiquitous expression in testis (RPKM 5.0), thyroid (RPKM 3.8) and 25 other tissues.

Summary

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]

CEP290 Products (1)

mRNA	Protein	Name
NM_025114.4	NP_079390.3	centrosomal protein of 290 kDa

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	18723859	GOA
NOT enables microtubule minus-end binding	IDA IDA: Inferred from direct assay	16682973	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16682973	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in cilium assembly	IDA IDA: Inferred from direct assay	26386044	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	16682973	GOA
involved in positive regulation of intracellular protein transport	IMP IMP: Inferred from mutant phenotype	22797915	GOA
acts upstream of or within regulation of establishment of protein localization	IMP IMP: Inferred from mutant phenotype	24421332	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in centriolar satellite	IDA IDA: Inferred from direct assay	22797915	GOA
located in centriole	IDA IDA: Inferred from direct assay	27623382	GOA
colocalizes with centrosome	IDA IDA: Inferred from direct assay	24648492	GOA
located in centrosome	IDA IDA: Inferred from direct assay	14654843	GOA
located in ciliary transition zone	IDA IDA: Inferred from direct assay	23943788	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	14654843	GOA
located in cytosol	IDA IDA: Inferred from direct assay	16682973	GOA
located in nucleus	IDA IDA: Inferred from direct assay	16682973	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	24421332	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
centrosomal protein of 290 kDa	Bardet-Biedl syndrome 14 protein

CEP290 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	CEP290	O15078	CEP162	Homo sapiens	Q5TB80	Anti Tag CoIP	26638075
Intra	CEP290	O15078	CEP162	Homo sapiens	Q5TB80	BioID	26638075
Intra	CEP290	O15078	CCP110	Homo sapiens	O43303	Anti Bait CoIP	22441691
Intra	CEP290	O15078	CCP110	Homo sapiens	O43303	GMS	18694559
Intra	CEP290	O15078	CCP110	Homo sapiens	O43303	Anti Tag CoIP	18694559
Intra	CEP290	O15078	CCP110	Homo sapiens	O43303	Anti Bait CoIP	21620453
Intra	CEP290	O15078	CCP110	Homo sapiens	O43303	Anti Bait CoIP	24421332
Intra	CEP290	O15078	CCP110	Homo sapiens	O43303	Anti Tag CoIP	26638075
Intra	CEP290	O15078	CCP110	Homo sapiens	O43303	BioID	26638075
Intra	CEP290	O15078	IQCB1	Homo sapiens	Q15051	Anti Tag CoIP	23446637
Intra	CEP290	O15078	IQCB1	Homo sapiens	Q15051	Anti Bait CoIP	23446637
Intra	CEP290	O15078	IQCB1	Homo sapiens	Q15051	Anti Tag CoIP	26638075
Intra	CEP290	O15078	IQCB1	Homo sapiens	Q15051	Far-WB	23446637
Intra	CEP290	O15078	IQCB1	Homo sapiens	Q15051	BioID	26638075
Intra	CEP290	O15078	CEP131	Homo sapiens	Q9UPN4	Anti Bait CoIP	24816561
Intra	CEP290	O15078	CEP131	Homo sapiens	Q9UPN4	BioID	26638075
Intra	CEP290	O15078	CEP131	Homo sapiens	Q9UPN4	Anti Tag CoIP	26638075
Intra	CEP290	O15078	KIAA1328	Homo sapiens	Q86T90	Y2H Prey Pooling	32296183
Intra	CEP290	O15078	KIAA1328	Homo sapiens	Q86T90	Y2H Array	32296183
Intra	CEP290	O15078	KIAA1328	Homo sapiens	Q86T90	Validated Y2H	32296183
Intra	CEP290	O15078	BBLN	Homo sapiens	Q9BUW7	Validated Y2H	32296183
Intra	CEP290	O15078	BBLN	Homo sapiens	Q9BUW7	Y2H Array	25416956
Intra	CEP290	O15078	BBLN	Homo sapiens	Q9BUW7	Y2H Array	32296183
Intra	CEP290	O15078	BBLN	Homo sapiens	Q9BUW7	Y2H Prey Pooling	25416956
Intra	CEP290	O15078	BBLN	Homo sapiens	Q9BUW7	Y2H Prey Pooling	32296183
Intra	CEP290	O15078	PICK1	Homo sapiens	Q9NRD5	Y2H Prey Pooling	32296183
Intra	CEP290	O15078	PICK1	Homo sapiens	Q9NRD5	Validated Y2H	32296183
Intra	CEP290	O15078	PICK1	Homo sapiens	Q9NRD5	Y2H Array	32296183
Cross	CEP290	O15078	Calm1	Rattus norvegicus	P0DP29	Anti Tag CoIP	23446637

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Joubert Syndrome 5	JBTS5 Joubert Syndrome, Type 5
Senior-Loken Syndrome 6	SLSN6 Senior-Loken Syndrome, Type 6
Bardet-Biedl Syndrome 14	BBS14 Bardet-Biedl Syndrome 14, Modifier Of Bardet-Biedl Syndrome, Type 14
Leber Congenital Amaurosis 10	LCA10 Leber Congenital Amaurosis, Type 10
Meckel Syndrome, Type 4	Meckel Syndrome 4 MKS4 Meckel-Gruber Syndrome, Type 4 Meckel Syndrome Type 4
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Occipital Encephalocele
Encephalocele	Cephalocele Craniocele Bifid Cranium Cranium Bifidum Encephaloceles
Renal Dysplasia, Cystic	CYSRD Renal Dysplasia, Cystic, Susceptibility To Diffuse Cystic Renal Dysplasia Renal Dysplasia Diffuse Cystic Cystic Renal Dysplasia Susceptibility To Cystic Renal Dysplasia Dysplasia, Renal, Cystic, Susceptibility To Multicystic Dysplastic Kidney
Night Blindness	Nyctalopia
Kidney Disease	Renal Failure Kidney Failure Kidney Diseases Nephropathy Abnormality Of The Kidney Impaired Renal Function Disease Renal Anomaly Kidney Dysfunction Renal Disease Nephropathies Renal Failure Adverse Event Abnormal Renal Function
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Arima Syndrome	Dekaban-Arima Syndrome Joubert Syndrome With Bilateral Chorioretinal Coloboma Cors Cerebello-Oculo-Renal Syndrome Cerebellooculorenal Syndrome Js Type B Js-Or Joubert Syndrome 5 Joubert Syndrome With Senior-Loken Syndrome Joubert Syndrome With Oculorenal Defect Coloboma, Chorioretinal, With Cerebellar Vermis Aplasia Cerebrooculohepatorenal Syndrome Joubert Syndrome With Oculorenal Anomalies Cerebro-Oculo-Hepato-Renal Syndrome Chorioretinal Coloboma With Cerebellar Vermis Aplasia Dekaban Arima Syndrome Cor Bj Familial Aplasia Of The Vermis
Meckel Syndrome, Type 6	Meckel Syndrome 6 MKS6 Meckel-Gruber Syndrome, Type 6
Juvenile Nephronophthisis	Nephronophthisis Nephronophthisis, Familial Juvenile
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Immunodeficiency 47	Congenital Disorder Of Glycosylation Type Ii CDG2E Congenital Disorder Of Glycosylation Type Iie IMD47 Cdg2s Cdg Iis Cdgiis Immunodeficiency And Hepatopathy With Or Without Neurologic Features Congenital Disorder Of Glycosylation, Type Ii CDG1I Congenital Disorder Of Glycosylation, Type Iie Cdg Iie Congenital Disorder Of Glycosylation Type 2e Congenital Disorder Of Glycosylation, Type Iis Cdg Ii Cdgii Cdgiie Carbohydrate Deficient Glycoprotein Syndrome Type Iie Cdg Syndrome Type Iie Congenital Disorder Of Glycosylation Ii Congenital Disorder Of Glycosylation 1i Cdg-Iie Alg2-Cdg Cdg-Ii Glycosylation, Congenital Disorder Of, Type Ii Cdgiide Congenital Disorder Of Glycosylation Type Iis Cog7-Cdg Cdg Syndrome Type Ii Carbohydrate Deficient Glycoprotein Syndrome Type Ii Congenital Disorder Of Glycosylation Type 1i Mannosyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2e Congenital Disorder Of Glycosylation 2s Congenital Disorders Of Glycosylation Type Ii Glycosylation, Congenital Disorder Of, Type Iie Immunodeficiency, Type 47 Congenital Disorder Of Glycosylation Type 2a
Senior-Loken Syndrome 1	Senior-Loken Syndrome Renal Dysplasia And Retinal Aplasia Renal-Retinal Syndrome Loken-Senior Syndrome Juvenile Nephronophthisis With Leber Amaurosis SLSN1 Senior-Loken Syndrome-1 Loken Senior Syndrome Senior Loken Syndrome Renal Dysplasia Retinal Aplasia Nephronophthisis With Retinal Dystrophy Renal Dysplasia-Retinal Aplasia Syndrome Slsn
Spastic Ataxia	Spax Ataxia, Spastic
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Hypotonia
Polydactyly	Non-Syndromic Polydactyly Polydactyly, Postaxial Postaxial Polydactyly Supernumerary Digit Extra Digits Hyperdactyly Polydactylia Polydactylism Supernumerary Digits
Simpson-Golabi-Behmel Syndrome, Type 2	Simpson-Golabi-Behmel Syndrome Type 2 SGBS2 Simpson-Golabi-Behmel Syndrome 2
Orofaciodigital Syndrome I	OFD1 Orofaciodigital Syndrome 1 Oral-Facial-Digital Syndrome, Type I Oral-Facial-Digital Syndrome 1 Ofds I Papillon-Leage And Psaume Syndrome Papillon-Leage-Psaume Syndrome Oral-Facial-Digital Syndrome Type 1 Orofaciodigital Syndrome Type 1 Orofaciodigital Syndromes Orofaciodigital Syndrome Type I Oral-Facial-Digital Syndrome Type I Ofd Syndrome 1 Ofds 1 Oral Facial Digital Syndrome 1 Oral Facial Digital Syndrome Type 1 Papillon-League-Psaume Syndrome Ofdi Ofdsi Orofaciodigital Syndrome, Type I
Retinoschisis 1, X-Linked, Juvenile	Retinoschisis X-Linked Retinoschisis X-Linked Juvenile Retinoschisis RS1 XLRS1 X-Linked Juvenile Retinoschisis 1 Xlrs Retinoschisis, X-Linked Rs Congenital X-Linked Retinoschisis Degenerative Retinoschisis Juvenile Retinoschisis Xjr Retinoschisis Juvenile X-Linked 1 Retinoschisis, Juvenile, X-Linked Retinoschisis, Degenerative
Leber Congenital Amaurosis 2	LCA2 Amaurosis Congenita Of Leber Ii Amaurosis Congenita Of Leber, Type 2 Leber Congenital Amaurosis Type Ii Leber Congenital Amaurosis, Type 2 Leber Congenital Amaurosis, Type Ii
Apraxia	Apraxias Dyspraxia
Leber Congenital Amaurosis 4	LCA4 Retinitis Pigmentosa, Juvenile Cone-Rod Dystrophy Leber Congenital Amaurosis, Type 4 Retinitis Pigmentosa
Joubert Syndrome 2	Cerebellooculorenal Syndrome 2 JBTS2 Cors2 Cerebello-Oculo-Renal Syndrome 2 Joubert Syndrome, Type 2
Leber Congenital Amaurosis 6	LCA6 Leber Congenital Amaurosis, Type 6
Joubert Syndrome 3	JBTS3 Joubert Syndrome With Ocular Defect Joubert Syndrome With Ocular Anomalies Js-O Joubert Syndrome With Retinopathy Joubert Syndrome-3 Joubert Syndrome, Type 3
Nephronophthisis 11	NPHP11 Nephronophthisis, Type 11
Coach Syndrome 1	Coach Syndrome Joubert Syndrome With Congenital Hepatic Fibrosis Gentile Syndrome Joubert Syndrome With Hepatic Defect Js-H COACH1 Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Ataxia Congenital, Coloboma, And Hepatic Fibrosis Cerebellar Vermis Hypo/Aplasia Oligophrenia Congenital Ataxia Ocular Coloboma And Hepatic Fibrosis
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Nephronophthisis 9	NPHP9 Nephronophthisis, Type 9
Retinal Degeneration	Degeneration Of Retina
Usher Syndrome, Type Iia	Usher Syndrome Type 2a USH2A Usher Syndrome, Type 2a Usher Syndrome Type Iia Retinal Disease In Usher Syndrome Type Iia, Modifier Of Us2 Ush2 Usher Syndrome 2a Usher'S Syndrome Type 2a Ushiia
Bardet-Biedl Syndrome 4	BBS4 Bardet-Biedl Syndrome, Type 4
Leber Congenital Amaurosis 3	LCA3 Retinitis Pigmentosa 94, Variable Age At Onset, Autosomal Recessive Leber Congenital Amaurosis, Type 3 Leber Congenital Amaurosis Type 3
Retinitis Pigmentosa 39	RP39 Retinitis Pigmentosa, Type 39
Pseudopapilledema
Orofaciodigital Syndrome	Oral-Facial-Digital Syndrome Orofaciodigital Syndromes Ofd Oral Facial Digital Syndromes Oral-Facial-Digital Syndromes Dysplasia Linguofacialis Ofds Oro-Facio-Digital Syndrome Orodigitofacial Dysostosis Orodigitofacial Syndrome Oral Facial Digital Syndrome Orofaciodigital Syndrome I
Renal-Hepatic-Pancreatic Dysplasia	Ivemark'S Syndrome Ivemark Ii Syndrome Renohepaticopancreatic Dysplasia
Leber Congenital Amaurosis 8	LCA8 Leber Congenital Amaurosis, Type 8
Eye Degenerative Disease
Bardet-Biedl Syndrome 11	BBS11 Bardet-Biedl Syndrome Bbs Bardet-Biedl Syndrome, Type 11
Nephronophthisis 19	NPHP19 Nephronophthisis, Type 19
Choroid Disease	Choroid Diseases Abnormality Of The Choroid
Nephronophthisis 2	NPHP2 Nph2 Nephronophthisis 2, Infantile Infantile Nephronophthisis 2 Infantile Nephronophthisis Nephronophthisis, Type 2
Mckusick-Kaufman Syndrome	MKKS Hydrometrocolpos, Postaxial Polydactyly, And Congenital Heart Malformation Hmcs Kaufman-Mckusick Syndrome Hydrometrocolpos Syndrome Hydrometrocolpos-Postaxial Polydactyly Syndrome Kaufman Mckusick Syndrome Mckusick Kaufman Syndrome Mks
Keratoconus	Kc Conical Cornea Noninflammatory Corneal Thining Bulging Cornea Cornea Conical Acquired Conus Of Cornea
Retinitis Pigmentosa 2	RP2 X-Linked Retinitis Pigmentosa 2 Xlrp2 Xlrp-2 Retinitis Pigmentosa-2 Retinitis Pigmentosa, Type 2
Hereditary Retinal Dystrophy	Hereditary Retinal Dystrophies
Cogan Syndrome	Cogan'S Syndrome Diffuse Interstitual Keratitis Cogans Syndrome Oculovestibuloauditory Syndrome
Nephronophthisis 16	NPHP16 Nephronophthisis, Type 16
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
Usher Syndrome Type 2	Ush2 Usher Syndrome Type Ii
Physical Disorder	Physical Illness
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Choroideremia	CHM Tcd Progressive Tapetochoroidal Dystrophy Choroidal Sclerosis Tapetochoroidal Dystrophy, Progressive Progressive Choroidal Atrophy Tapetochoroidal Dystrophy
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Cranioectodermal Dysplasia	Sensenbrenner Syndrome Levin Syndrome 1 Ced Levin Syndrome Dysplasia, Cranioectodermal
Joubert Syndrome 24	JBTS24
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Autosomal Recessive Polycystic Kidney Disease Arpkd Polycystic Kidney Disease, Autosomal Recessive Polycystic Kidney And Hepatic Disease 1 Pkhd1 PKD4 Polycystic Kidney Disease 4 With Or Without Hepatic Disease Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney Disease, Infantile Type Polycystic Kidney, Autosomal Recessive Pkd3, Formerly Polycystic Kidney Disease 4, With Or Without Hepatic Disease Arpkd/Chf Ar-Pkd Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease Infantile Polycystic Kidney Disease Type I Pkd3 Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease Polycystic Kidney Disease 3, Autosomal Dominant
Enophthalmos
Color Blindness	Color Vision Defect Blindness Color Colour Blindness Colour Vision Deficiency Color Vision Deficiency Color Vision Defects Defective Color Vision Vision Defect, Color Color-Vision Disease Dyschromatopsia
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Orofaciodigital Syndrome Vi	OFD6 Varadi-Papp Syndrome Varadi Syndrome Joubert Syndrome With Orofaciodigital Defect Orofaciodigital Syndrome Type 6 Orofaciodigital Syndrome 6 Oral-Facial-Digital Syndrome, Type Vi Ofds Vi Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation Polydactyly Cleft Lip Palate Psychomotor Retardation Oral-Facial-Digital Syndrome Type 6 Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome Polydactyly - Cleft Lip/Palate - Psychomotor Retardation Váradi Syndrome Váradi-Papp Syndrome Joubert Syndrome With Oral-Facial-Digital Syndrome Oral-Facial-Digital Syndrome 6 Joubert-Orofaciodigital Syndrome Orofaciodigital Syndrome, Type Vi
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Asphyxiating Thoracic Dystrophy	Jeune Thoracic Dystrophy Jeune Syndrome Asphyxiating Thoracic Dysplasia Short-Rib Thoracic Dysplasia With Or Without Polydactyly Thoracic Pelvic Phalangeal Dystrophy Asphyxiating Thoracic Chondrodystrophy Atd Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune Thoracic Dysplasia Thoracic Asphyxiant Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Short-Rib Thoracic Dysplasia Without Polydactyly Asphyxiating Thoracic Dystrophy Of The Newborn Asphyxiating Thorax Dystrophy
Late-Onset Retinal Degeneration	LORD Retinal Degeneration, Late-Onset, Autosomal Dominant Autosomal Dominant Late-Onset Retinal Degeneration Pigmentary Retinopathy Retinal Degeneration, Late-Onset Retinitis Pigmentosa
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Episodic Ataxia, Type 8	Episodic Ataxia Type 8 EA8 Episodic Ataxia With Slurred Speech
Acrocallosal Syndrome	ACLS Schinzel Acrocallosal Syndrome Joubert Syndrome 12 Schinzel Syndrome 1 Acrocallosal Syndrome, Schinzel Type Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum Acs Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum JBTS12 Acrocallosal Syndrome
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome
Refractive Error	Refractive Errors
Retinal Disease	Retinal Diseases Retinal Disorder Retinal Disorders
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Vitelliform Macular Dystrophy	Best Disease Juvenile-Onset Vitelliform Macular Dystrophy Macular Dystrophy, Vitelliform Best Macular Dystrophy Vitelliform Dystrophy
Ellis-Van Creveld Syndrome	Chondroectodermal Dysplasia Mesoectodermal Dysplasia EVC Ellis Van Creveld Syndrome Mesodermic Dysplasia Ellis-Van Creveld Dysplasia
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Asphyxiating Thoracic Dystrophy 1 Jeune Syndrome SRTD1 Atd1 Asphyxiating Thoracic Dystrophy Of The Newborn Jatd Jeune Asphyxiating Thoracic Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Atd Asphyxiating Thoracic Dystrophy Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune'S Syndrome Thoracic Pelvic Phalangeal Dystrophy Jeune Thoracic Dystrophy
Exudative Vitreoretinopathy	Familial Exudative Vitreoretinopathy Fevr Criswick-Schepens Syndrome Exudative Vitreoretinopathy, Familial Vitreoretinopathy, Exudative ) Exudative Vitreoretinopathy 1
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]
Usher Syndrome, Type I	USH1 Usher Syndrome Type 1 Us1 Usher Syndrome, Type 1b Usher Syndrome Type 1e Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type Ie USH1E Usher Syndrome, Type 1e Usher Syndrome, Type 1a Usher Syndrome, Type Ib Usher Syndrome Type 1b Usher Syndrome Type Ie Usher Syndrome Type I Usher 1 Usher Syndrome, Type 1 Ush1a Usher Syndrome, Type I, French Variety Usher Syndrome, Type Ia Usher Syndrome 1b USH1B Usher'S Syndrome Type 1b Usher Syndrome Type Ib Ushib
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary
Neuronal Ceroid Lipofuscinosis	Hereditary Ceroid Lipofuscinosis Batten Disease Ncl Neuronal Ceroid-Lipofuscinoses Lipofuscinosis, Ceroid, Neuronal Juvenile Neuronal Ceroid Lipofuscinosis Cerebromacular Dystrophy Cerebromacular Degeneration Ceroid-Lipofuscinosis Ncl - [Neuronal Ceroid Lipofuscinosis] Amaurotic Familial Idiocy Amaurotic Idiocy Amaurotic Idiot Neuronal Lipofuscinosis Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS02511	CEP290 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CEP290	VGNC	VGNC:60771
Canis familiaris	CEP290	VGNC	VGNC:39125
Bos taurus	CEP290	VGNC	VGNC:27201
Rattus norvegicus	CEP290	RGD	RGD:1311640
Macaca mulatta	CEP290	VGNC	VGNC:71126
Mus musculus	CEP290	MGD	MGI:2384917
Others	CEP290	NCBI