• Gene id: 80184

Gene Summary

• Gene Symbol: CEP290   Gene   UCSC   Ensembl
• Aliases: 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16
• Gene name: centrosomal protein 290
• Alternate names: centrosomal protein of 290 kDa, Bardet-Biedl syndrome 14 protein, CTCL tumor antigen se2-2, Meckel syndrome, type 4, POC3 centriolar protein homolog, cancer/testis antigen 87, centrosomal protein 290kDa, monoclonal antibody 3H11 antigen, nephrocytsin-6, prostate c,
• Gene location: 12q21.32 (88142215: 88049012)     Exons: 60     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 610142

Protein Summary

• Protein general information: O15078  
  • Name: Centrosomal protein of 290 kDa (Cep290) (Bardet Biedl syndrome 14 protein) (Cancer/testis antigen 87) (CT87) (Nephrocystin 6) (Tumor antigen se2 2)
  • Length: 2479  
  • Mass: 290386
  • Tissue specificity: Ubiquitous. Expressed strongly in placenta and weakly in brain. {ECO
• Sequence:

  MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMKMKAQEVELALEEVEK
  AGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQLEKQLEQKDRELEDMEKELEKEKKVNEQLAL
  RNEEAENENSKLRRENKRLKKKNEQLCQDIIDYQKQIDSQKETLLSRRGEDSDYRSQLSKKNYELIQYLDEIQTL
  TEANEKIEVQNQEMRKNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKKENDHYQLQVQELTDLLKSKNEEDD
  PIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQERDSQIKMLTEQVEQYT
  KEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKTKEAERTAELAEADAREKDKELVEALKRLKD
  YESGVYGLEDAVVEIKNCKNQIKIRDREIEILTKEINKLELKISDFLDENEALRERVGLEPKTMIDLTEFRNSKH
  LKQQQYRAENQILLKEIESLEEERLDLKKKIRQMAQERGKRSATSGLTTEDLNLTENISQGDRISERKLDLLSLK
  NMSEAQSKNEFLSRELIEKERDLERSRTVIAKFQNKLKELVEENKQLEEGMKEILQAIKEMQKDPDVKGGETSLI
  IPSLERLVNAIESKNAEGIFDASLHLKAQVDQLTGRNEELRQELRESRKEAINYSQQLAKANLKIDHLEKETSLL
  RQSEGSNVVFKGIDLPDGIAPSSASIINSQNEYLIHLLQELENKEKKLKNLEDSLEDYNRKFAVIRHQQSLLYKE
  YLSEKETWKTESKTIKEEKRKLEDQVQQDAIKVKEYNNLLNALQMDSDEMKKILAENSRKITVLQVNEKSLIRQY
  TTLVELERQLRKENEKQKNELLSMEAEVCEKIGCLQRFKEMAIFKIAALQKVVDNSVSLSELELANKQYNELTAK
  YRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEKLHTIEQAWEQETKLGNESSMDKAKKSITNS
  DIVSISKKITMLEMKELNERQRAEHCQKMYEHLRTSLKQMEERNFELETKFAELTKINLDAQKVEQMLRDELADS
  VSKAVSDADRQRILELEKNEMELKVEVSKLREISDIARRQVEILNAQQQSRDKEVESLRMQLLDYQAQSDEKSLI
  AKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYARLEGRNRAKHLRQTIQSLRRQFS
  GALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLEMELKLKGLEELISTLKDTKGAQKVINWHMK
  IEELRLQELKLNRELVKDKEEIKYLNNIISEYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQ
  NEILNAAQKFEEATGSIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDK
  VINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVK
  KHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQD
  LERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRN
  LVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVEDLNENLLK
  LKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNKQSLIE
  ELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLF
  AKADKEKLTLQRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYL
  QEKLHALEKQFSKDTYSKPSISGIESDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMC
  EFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLKKASGILTSEKMANIEQENEKLKA
  ELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNLEILNEKMTVQLEETGKRLQF
  AESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIKILK
  HVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQ
  HLKEEIKKLKKELENFDPSFFEEIEDLKYNYKEEVKKNILLEEKVKKLSEQLGVELTSPVAASEEFEDEEESPVN
  FPIY

• Structural information:
  • Interpro: IPR032321  IPR026201  
  • DIP: 46541
  • STRING: ENSP00000448012
• Other Databases: GeneCards:  CEP290  Malacards:  CEP290

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005813	centrosome	IDA	colocalizes with
GO:0005515	protein binding	IPI	molecular function
GO:0005813	centrosome	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0051011	microtubule minus-end binding	IDA	NOT|molecular function
GO:0000930	gamma-tubulin complex	IDA	colocalizes with
GO:0005634	nucleus	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042462	eye photoreceptor cell development	ISS	biological process
GO:0030902	hindbrain development	ISS	biological process
GO:0030916	otic vesicle formation	ISS	biological process
GO:0048793	pronephros development	ISS	biological process
GO:0060271	cilium assembly	IDA	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0090316	positive regulation of intracellular protein transport	IMP	biological process
GO:0060271	cilium assembly	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0036038	MKS complex	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005813	centrosome	IEA	cellular component
GO:0060271	cilium assembly	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0070201	regulation of establishment of protein localization	IMP	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0000086	G2/M transition of mitotic cell cycle	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0010389	regulation of G2/M transition of mitotic cell cycle	TAS	biological process
GO:0035580	specific granule lumen	TAS	cellular component
GO:0097711	ciliary basal body-plasma membrane docking	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0036064	ciliary basal body	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0034451	centriolar satellite	IDA	cellular component
GO:0035869	ciliary transition zone	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0032391	photoreceptor connecting cilium	ISS	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0015031	protein transport	ISS	biological process

Diseases

Associated diseases	References
Joubert syndrome	KEGG:H00530
Nephronophthisis	KEGG:H00537
Bardet-Biedl syndrome	KEGG:H00418
Leber congenital amaurosis	KEGG:H00837
Meckel syndrome	KEGG:H00261
Senior-Loken syndrome	KEGG:H00538
Arima syndrome	KEGG:H01811
Joubert syndrome	KEGG:H00530
Nephronophthisis	KEGG:H00537
Bardet-Biedl syndrome	KEGG:H00418
Leber congenital amaurosis	KEGG:H00837
Meckel syndrome	KEGG:H00261
Senior-Loken syndrome	KEGG:H00538
Arima syndrome	KEGG:H01811
Meckel syndrome 4	PMID:17705300
Leber congenital amaurosis 10	PMID:17345604
Joubert syndrome	PMID:17409309
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R