Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	80184
Gene name Gene Name - the full gene name approved by the HGNC.	Centrosomal protein 290
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CEP290
Synonyms (NCBI Gene) Gene synonyms aliases	3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q21.32
Summary Summary of gene provided in NCBI Entrez 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 centros

Show/Hide all(178)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11836796	T>C,G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs45502896	C>A,G,T	Likely-pathogenic, benign	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs62638179	C>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs62638180	TAAAG>-	Not-provided, pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs62640570	T>-,TT	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, stop gained
rs62640574	G>A	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs73192874	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs77778467	T>C	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs137852832	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs137852833	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs137852834	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs137852835	G>A,C	Pathogenic	Non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant, missense variant
rs140236736	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs150296134	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs181121175	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, synonymous variant, coding sequence variant
rs182369459	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs182851622	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs183655276	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs184143186	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs188164241	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs191613017	A>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, missense variant
rs199770158	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, not-provided	Intron variant, genic upstream transcript variant
rs200729812	T>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs200818935	T>C	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs201218801	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Intron variant, genic downstream transcript variant, splice donor variant
rs201295052	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs202159966	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs267606719	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs281865188	->T	Pathogenic, not-provided	Frameshift variant, non coding transcript variant, coding sequence variant
rs281865192	T>C	Pathogenic	Intron variant
rs369451049	G>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs369523378	T>C	Likely-pathogenic	Splice acceptor variant
rs370119681	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs371159780	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs371496675	A>T	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs371525247	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs372349042	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs373913704	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs375548374	G>A,T	Likely-pathogenic	Non coding transcript variant, missense variant, stop gained, genic downstream transcript variant, 3 prime UTR variant, coding sequence variant
rs376493409	G>A,T	Pathogenic	Missense variant, stop gained, non coding transcript variant, coding sequence variant
rs376645523	C>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs377227262	A>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs386834148	AT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs386834149	T>-	Likely-pathogenic, pathogenic	Genic upstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant, upstream transcript variant
rs386834151	TT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs386834152	G>A	Likely-pathogenic, pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs386834153	C>A,G	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, stop gained, coding sequence variant
rs386834155	TT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs386834156	CT>A	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs386834157	ATCT>-	Likely-pathogenic, pathogenic	Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs386834158	T>-	Likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs386834159	A>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs539400286	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs561598805	G>A,T	Likely-benign, likely-pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant, stop gained
rs575767207	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs587779733	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587783009	C>T	Pathogenic	Splice donor variant
rs587783010	AA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587783016	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs587783017	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs727503853	GTTT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs727503855	TT>-,T,TTT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs745522483	CAAAA>-,CAAAACAAAA	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs747323414	G>-	Likely-pathogenic, uncertain-significance	Intron variant
rs747835249	CA>-	Likely-pathogenic, pathogenic	Coding sequence variant, splice donor variant, non coding transcript variant
rs748034744	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant
rs749331348	TAGT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs749439750	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs751361090	->A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs752942122	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs753884599	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs754728136	AATT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs756302731	CT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs757609119	CT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs757641323	G>A	Likely-pathogenic, pathogenic	Stop gained, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs758329611	T>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant, frameshift variant
rs760415289	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs760540562	C>T	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs760915898	C>T	Pathogenic-likely-pathogenic, uncertain-significance, likely-pathogenic	Splice donor variant
rs763473957	T>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs764309755	TT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs765002773	A>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs765483163	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs766608755	CTTT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs766670248	C>T	Likely-pathogenic	Intron variant, splice acceptor variant, genic downstream transcript variant
rs766952056	C>T	Pathogenic	Splice donor variant
rs771266705	TTTTA>-	Pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs771454167	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs772170760	T>A	Pathogenic	Intron variant, stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs773386777	T>C	Pathogenic	Splice acceptor variant
rs773622064	T>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic upstream transcript variant, coding sequence variant
rs776645403	G>A	Pathogenic	Non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs777464278	C>A	Likely-pathogenic	Splice acceptor variant
rs778030031	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs779262951	G>A,T	Pathogenic	Synonymous variant, stop gained, non coding transcript variant, coding sequence variant
rs780225183	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs780624853	TTCT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs780805963	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs786205620	T>-	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs797044604	C>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs863224523	TT>-	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs863225182	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs863225183	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs863225184	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs863225185	A>C	Pathogenic	Non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs863225186	C>T	Pathogenic	Splice donor variant
rs863225187	G>T	Pathogenic	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs863225189	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs878853360	C>A,T	Uncertain-significance, likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs878853361	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs878853362	TA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs878855334	T>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs886039805	AA>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs886039808	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs886042020	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs886042153	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs886042359	T>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs886042360	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs886042734	CT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant
rs886043303	CTCT>-	Pathogenic	Non coding transcript variant, frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs886044332	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs965522059	C>T	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs968692633	C>G	Pathogenic	Splice acceptor variant
rs1039146791	A>C,G	Pathogenic	Genic downstream transcript variant, intron variant
rs1057517886	T>A	Likely-pathogenic	Non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs1057518822	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1057519165	T>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant
rs1057519245	C>T	Likely-pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant
rs1060499781	->CC	Likely-pathogenic	Non coding transcript variant, splice donor variant, coding sequence variant, genic downstream transcript variant
rs1064793733	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1064797171	->AA	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1170451277	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, stop gained, non coding transcript variant
rs1192112844	C>A,T	Likely-pathogenic	Splice acceptor variant
rs1206723575	A>G,T	Likely-pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs1209421607	T>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1213286417	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1221464366	AG>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1226324483	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1272411609	G>C,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1278679056	T>A	Pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs1290241933	G>A	Pathogenic	Stop gained, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs1294402003	->GATTA	Pathogenic	3 prime UTR variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs1302558061	A>C	Pathogenic	Intron variant
rs1339975972	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1369768287	A>G	Likely-pathogenic	Splice donor variant
rs1452465499	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs1459653241	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, missense variant
rs1465414886	G>A,C	Likely-pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs1468942944	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1555197766	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, stop gained, genic downstream transcript variant
rs1555200648	A>T	Likely-pathogenic	Splice donor variant
rs1555201796	CTCGT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555202126	G>C	Likely-pathogenic	Intron variant
rs1555205328	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555208180	->G	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555208870	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555212150	TC>CA	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555212271	->A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555213161	T>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555213204	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555216730	->T	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555218898	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555220625	C>A	Pathogenic-likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555220638	A>C	Pathogenic	Intron variant
rs1555222073	C>T	Pathogenic	Intron variant
rs1555225566	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1565822519	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592639588	C>G	Pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs1592656929	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1592668925	G>C	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1592671618	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant
rs1592671672	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant
rs1592726020	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1592784618	T>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1592807018	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1592808035	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1592833648	TTTA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1592836704	C>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT885854	hsa-miR-146a	CLIP-seq
MIRT885855	hsa-miR-146b-5p	CLIP-seq

Show/Hide all(47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IBA
GO:0005515	Function	Protein binding	IPI	16682973, 18694559, 18723859, 21565611, 21620453, 22441691, 22446187, 22797915, 22863007, 23446637, 23644468, 23943788, 24421332, 24550735, 24816561, 25416956, 25552655, 26638075, 28235840, 28514442, 32296183, 33961781, 36606424
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IDA	16682973
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	14654843
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	24648492
GO:0005813	Component	Centrosome	IDA	14654843, 16682973, 21399614, 24550735
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IDA	27623382
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA	16682973
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0015031	Process	Protein transport	IEA
GO:0015031	Process	Protein transport	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0030030	Process	Cell projection organization	IEA
GO:0030902	Process	Hindbrain development	ISS	16682973
GO:0030916	Process	Otic vesicle formation	ISS	16682973
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032391	Component	Photoreceptor connecting cilium	ISS	16682973
GO:0032991	Component	Protein-containing complex	IDA	24421332
GO:0034451	Component	Centriolar satellite	IBA
GO:0034451	Component	Centriolar satellite	IDA	22797915, 23943788
GO:0034451	Component	Centriolar satellite	IEA
GO:0035580	Component	Specific granule lumen	TAS
GO:0035869	Component	Ciliary transition zone	IBA
GO:0035869	Component	Ciliary transition zone	IDA	23943788, 36606424
GO:0036038	Component	MKS complex	ISS
GO:0036064	Component	Ciliary basal body	IEA
GO:0042462	Process	Eye photoreceptor cell development	ISS	16682973
GO:0042802	Function	Identical protein binding	IPI	18723859
GO:0042995	Component	Cell projection	IEA
GO:0043010	Process	Camera-type eye development	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	16682973
GO:0048793	Process	Pronephros development	ISS	16682973
GO:0051011	Function	Microtubule minus-end binding	IDA	16682973
GO:0060271	Process	Cilium assembly	IDA	26386044
GO:0060271	Process	Cilium assembly	ISS
GO:0070201	Process	Regulation of establishment of protein localization	IMP	24421332
GO:0090316	Process	Positive regulation of intracellular protein transport	IMP	22797915
GO:0097711	Process	Ciliary basal body-plasma membrane docking	IBA
GO:1905349	Process	Ciliary transition zone assembly	IBA
GO:1905515	Process	Non-motile cilium assembly	IBA

MIM	HGNC	e!Ensembl
610142	29021	ENSG00000198707

Protein

UniProt ID

O15078

Protein name

Centrosomal protein of 290 kDa (Cep290) (Bardet-Biedl syndrome 14 protein) (Cancer/testis antigen 87) (CT87) (Nephrocystin-6) (Tumor antigen se2-2)

Protein 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 satellit

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16574	CEP209_CC5	1289 → 1416	Coiled-coil region of centrosome protein CE290	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Expressed strongly in placenta and weakly in brain. {ECO:0000269|PubMed:11149944, ECO:0000269|PubMed:16682973}.

Sequence

MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMK
MKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQL
EKQLEQKDRELEDMEKELEKEKKVNEQLALRNEEAENENSKLRRENKRLKKKNEQLCQDI
IDYQKQIDSQKETLLSRRGEDSDYRSQLSKKNYELIQYLDEIQTLTEANEKIEVQNQEMR
KNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKKENDHYQLQVQELTDLLKSKNEEDD
PIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQER
DSQIKMLTEQVEQYTKEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKT
KEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQIKIRDREIE
ILTKEINKLELKISDFLDENEALRERVGLEPKTMIDLTEFRNSKHLKQQQYRAENQILLK
EIESLEEERLDLKKKIRQMAQERGKRSATSGLTTEDLNLTENISQGDRISERKLDLLSLK
NMSEAQSKNEFLSRELIEKERDLERSRTVIAKFQNKLKELVEENKQLEEGMKEILQAIKE
MQKDPDVKGGETSLIIPSLERLVNAIESKNAEGIFDASLHLKAQVDQLTGRNEELRQELR
ESRKEAINYSQQLAKANLKIDHLEKETSLLRQSEGSNVVFKGIDLPDGIAPSSASIINSQ
NEYLIHLLQELENKEKKLKNLEDSLEDYNRKFAVIRHQQSLLYKEYLSEKETWKTESKTI
KEEKRKLEDQVQQDAIKVKEYNNLLNALQMDSDEMKKILAENSRKITVLQVNEKSLIRQY
TTLVELERQLRKENEKQKNELLSMEAEVCEKIGCLQRFKEMAIFKIAALQKVVDNSVSLS
ELELANKQYNELTAKYRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEK
LHTIEQAWEQETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNERQRAEHCQKMY
EHLRTSLKQMEERNFELETKFAELTKINLDAQKVEQMLRDELADSVSKAVSDADRQRILE
LEKNEMELKVEVSKLREISDIARRQVEILNAQQQSRDKEVESLRMQLLDYQAQSDEKSLI
AKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYARLEGRNRA
KHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLE
MELKLKGLEELISTLKDTKGAQKVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIIS
EYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAAQKFEEATG
SIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDK
VINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQ
RLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPTPVPTNKHF
IRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEV
KKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQ
QKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVEDLNENLLK
LKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSG
LQGKPLTDNKQSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQA
KIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVDQVLGIRAL
ESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDT
YSKPSISGIESDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMC
EFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLKKASGILTS
EKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAA
EKLRIAKNNLEILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLK
ELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIKILKHVPEGAETEQGLKRE
LQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQ
HLKEEIKKLKKELENFDPSFFEEIEDLKYNYKEEVKKNILLEEKVKKLSEQLGVELTSPV
AASEEFEDEEESPVNFPIY

Sequence length

2479

Interactions

View interactions

	Reactome
			Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane Neutrophil degranulation AURKA Activation by TPX2

Show/Hide Causal Diseases (14)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Bardet-Biedl Syndrome	Bardet-Biedl syndrome 14, bardet-biedl syndrome	rs1555212271, rs1468942944, rs386834152, rs863225187, rs1452465499, rs281865188, rs886042359, rs1555225566, rs1060499781, rs766608755, rs2033254449, rs1186821575, rs863225183, rs863225186, rs561598805 View all (83 more)	N/A
Cerebellar vermis agenesis	familial aplasia of the vermis	rs386834149, rs863224523	N/A
Joubert Syndrome	joubert syndrome 5, joubert syndrome 1, Joubert syndrome and related disorders	rs62640572, rs863225183, rs756302731, rs1592668925, rs863225186, rs561598805, rs886039808, rs1565822519, rs62635288, rs771454167, rs1434632102, rs587783017, rs587783016, rs770126103, rs727503855 View all (46 more)	N/A
Leber Congenital Amaurosis	leber congenital amaurosis, Leber congenital amaurosis 10	rs1186821575, rs1226324483, rs587783016, rs1555222073, rs62640580, rs62640574, rs760415289, rs386834152, rs137852835, rs756302731, rs1369768287, rs62638180, rs886042360, rs2040637111, rs878853362 View all (58 more)	N/A
Meckel Syndrome	meckel syndrome, type 4	rs137852835, rs386834157, rs1555220625, rs386834149, rs763762899, rs386834153, rs1369768287, rs863225186, rs781310385, rs886039805, rs762633090, rs539400286, rs1555213204, rs763473957, rs863225185 View all (16 more)	N/A
Meckel-Gruber Syndrome	meckel-gruber syndrome	rs886039805, rs62640570, rs587779733, rs137852832	N/A
Nephronophthisis	nephronophthisis	rs756302731, rs62635288	N/A
retinal dystrophy	Retinal dystrophy	rs878853363, rs1345994179, rs1294402003, rs386834148, rs780624853, rs2035880971, rs878853362, rs2037229663, rs2038012556, rs369523378, rs762633090, rs747835249, rs62640580, rs772170760, rs375548374 View all (31 more)	N/A
Retinitis Pigmentosa	retinitis pigmentosa	rs137852832, rs2036808766, rs2037140260, rs781670422, rs758593134, rs62638179, rs386834152, rs1555216730, rs281865188	N/A
Senior-Loken Syndrome	senior-loken syndrome 6	rs771454167, rs62638179, rs2137713030	N/A
cone-rod dystrophy	Cone-rod dystrophy	rs886042153	N/A
Meckel syndrome	Meckel syndrome, type 6	rs267606719	N/A
Rod-cone dystrophy	rod-cone dystrophy	rs778907433	N/A
Spastic Ataxia	spastic ataxia	rs386834157	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Microcephaly	microcephaly	N/A	N/A	ClinVar
renal dysplasia and retinal aplasia	Renal dysplasia and retinal aplasia	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (48)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Agenesis of Cerebellar Vermis	Associate	17160906, 17564967, 17564974, 17617513, 17960139, 18950740, 19764032, 20683928, 27491411, 28973549, 29146704, 30055837, 31346239, 32600475, 33432080, 37224330, 37642804 View all (2 more)
Atrioventricular Septal Defect	Associate	33093519
Autistic Disorder	Associate	20683928
Bardet Biedl Syndrome	Associate	19797195, 20177705, 21052717
Blindness	Associate	17564967, 35379979
Carcinoma Hepatocellular	Associate	35271462
Choroideremia	Associate	30374144
Ciliopathies	Associate	18950740, 19058225, 19764032, 21068128, 21866095, 26166481, 27491411, 31091803, 33105651, 34196201, 35764379, 37224330, 37371046
Cluster Headache	Associate	34196201
Color Vision Defects	Associate	37642804
Cone Dystrophy	Associate	37642804
Cone Rod Dystrophies	Associate	20805370, 33105651
Cysts	Associate	18950740
Developmental Disabilities	Associate	35019165
Disease	Associate	37371046
Down Syndrome	Associate	33093519, 35476505
Dysplastic Nevus Syndrome	Associate	21866095
Growth Disorders	Associate	33299522, 36384729
Hypogonadism	Associate	33299522, 36384729
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	17564967
Idiopathic Hypogonadotropic Hypogonadism	Associate	36384729
Immunoglobulin G4 Related Disease	Associate	20683928
Intellectual Disability	Associate	20683928, 34196201, 35019165
Kallmann Syndrome	Associate	33299522
Kidney Diseases	Associate	28973549, 29146704, 35352487
Leber Congenital Amaurosis	Associate	16909394, 17564974, 18682808, 18936139, 19764032, 19959640, 20683928, 20805370, 21153841, 21602930, 22619378, 23411883, 26626312, 27151457, 27880076 View all (15 more)
Leber Congenital Amaurosis 10	Associate	35379979, 37371046
Meckel syndrome type 1	Associate	17564974, 19764032, 19777577, 21493627, 31840411, 34981460, 35352487
Meckel Syndrome Type 4	Associate	31840411, 35352487
Muscular dystrophy congenital with central nervous system involvement	Associate	20683928
Neoplasms	Associate	35271462
Neoplastic Syndromes Hereditary	Associate	18950740
Nephronophthisis familial juvenile	Associate	17617513
Nystagmus Pathologic	Associate	34196655
Oculocerebrorenal Syndrome	Associate	17564974
Refsum Disease Infantile	Associate	35456422, 39189993
Respiratory Insufficiency	Associate	20805370
Respiratory System Abnormalities	Associate	20805370
Retinal Degeneration	Associate	22619378, 27257755, 28235840, 31212307, 33507217, 35456422
Retinal Diseases	Associate	31346239, 35379979, 37371046, 38160664
Retinal Dystrophies	Associate	20683928, 26092869, 30190494, 31091803, 34196655, 37642804, 39189993, 39596324, 39766851
Retinitis Pigmentosa	Associate	30543658, 33105651, 39189993
Senior Loken Syndrome	Associate	17564967, 17617513, 19764032, 20683928, 37224330, 37642804
Signs and Symptoms Respiratory	Associate	20805370
Situs Inversus	Associate	17564967
Sjogren Larsson Syndrome	Associate	17564967
Vision Disorders	Associate	23411883, 31212307
X Linked Infantile Nystagmus	Associate	28966547

CEP290 (centrosomal protein 290)