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.	22897
Gene name Gene Name - the full gene name approved by the HGNC.	Centrosomal protein 164
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CEP164
Synonyms (NCBI Gene) Gene synonyms aliases	NPHP15
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q23.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cau

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SNP ID	Visualize variation	Clinical significance	Consequence
rs112209873	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs143659874	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs145646425	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, stop gained, non coding transcript variant
rs147398904	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs387907309	A>C	Pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant
rs387907310	C>T	Pathogenic	Missense variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs387907311	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs747914869	->C	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs764893412	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs778819060	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs886041567	A>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1057521785	T>C	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs1565582604	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1565649749	T>C	Pathogenic	Terminator codon variant, non coding transcript variant, stop lost, genic downstream transcript variant
rs1592354614	G>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT043960	hsa-miR-378a-3p	CLASH	23622248
MIRT043771	hsa-miR-328-3p	CLASH	23622248
MIRT885746	hsa-miR-1	CLIP-seq
MIRT885747	hsa-miR-1185	CLIP-seq
MIRT885748	hsa-miR-1224-5p	CLIP-seq
MIRT885749	hsa-miR-1225-3p	CLIP-seq
MIRT885750	hsa-miR-125a-5p	CLIP-seq
MIRT885751	hsa-miR-125b	CLIP-seq
MIRT885752	hsa-miR-1273f	CLIP-seq
MIRT885753	hsa-miR-1915	CLIP-seq
MIRT885754	hsa-miR-206	CLIP-seq
MIRT885755	hsa-miR-3150b-3p	CLIP-seq
MIRT885756	hsa-miR-3613-3p	CLIP-seq
MIRT885757	hsa-miR-3657	CLIP-seq
MIRT885758	hsa-miR-3673	CLIP-seq
MIRT885759	hsa-miR-3679-5p	CLIP-seq
MIRT885760	hsa-miR-4311	CLIP-seq
MIRT885761	hsa-miR-4319	CLIP-seq
MIRT885762	hsa-miR-4323	CLIP-seq
MIRT885763	hsa-miR-4459	CLIP-seq
MIRT885764	hsa-miR-4689	CLIP-seq
MIRT885765	hsa-miR-4726-3p	CLIP-seq
MIRT885766	hsa-miR-4732-3p	CLIP-seq
MIRT885767	hsa-miR-4751	CLIP-seq
MIRT885768	hsa-miR-4784	CLIP-seq
MIRT885769	hsa-miR-4786-3p	CLIP-seq
MIRT885770	hsa-miR-520g	CLIP-seq
MIRT885771	hsa-miR-520h	CLIP-seq
MIRT885772	hsa-miR-544b	CLIP-seq
MIRT885773	hsa-miR-613	CLIP-seq
MIRT885774	hsa-miR-665	CLIP-seq
MIRT885775	hsa-miR-670	CLIP-seq
MIRT1962727	hsa-miR-1205	CLIP-seq
MIRT1962728	hsa-miR-3919	CLIP-seq
MIRT2198994	hsa-miR-1281	CLIP-seq
MIRT2198995	hsa-miR-150	CLIP-seq
MIRT885753	hsa-miR-1915	CLIP-seq
MIRT2198996	hsa-miR-2467-3p	CLIP-seq
MIRT2198997	hsa-miR-3667-3p	CLIP-seq
MIRT2198998	hsa-miR-4270	CLIP-seq
MIRT2198999	hsa-miR-4287	CLIP-seq
MIRT885762	hsa-miR-4323	CLIP-seq
MIRT2199000	hsa-miR-4441	CLIP-seq
MIRT2199001	hsa-miR-4685-3p	CLIP-seq
MIRT2199002	hsa-miR-4691-5p	CLIP-seq
MIRT885772	hsa-miR-544b	CLIP-seq
MIRT885763	hsa-miR-4459	CLIP-seq
MIRT2385946	hsa-miR-4649-3p	CLIP-seq
MIRT2385947	hsa-miR-4722-5p	CLIP-seq
MIRT2385948	hsa-miR-4779	CLIP-seq
MIRT885750	hsa-miR-125a-5p	CLIP-seq
MIRT885751	hsa-miR-125b	CLIP-seq
MIRT2501752	hsa-miR-203	CLIP-seq
MIRT885755	hsa-miR-3150b-3p	CLIP-seq
MIRT2501753	hsa-miR-3672	CLIP-seq
MIRT2501754	hsa-miR-4267	CLIP-seq
MIRT885761	hsa-miR-4319	CLIP-seq
MIRT885764	hsa-miR-4689	CLIP-seq
MIRT885766	hsa-miR-4732-3p	CLIP-seq
MIRT885768	hsa-miR-4784	CLIP-seq
MIRT2501755	hsa-miR-508-5p	CLIP-seq
MIRT885772	hsa-miR-544b	CLIP-seq
MIRT885775	hsa-miR-670	CLIP-seq
MIRT2501756	hsa-miR-766	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22863007, 23530209, 32296183, 33961781
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005814	Component	Centriole	IBA
GO:0005814	Component	Centriole	IDA	23348840, 23530209, 24421332, 26337392, 27623382
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0051301	Process	Cell division	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IMP	17954613, 23348840
GO:0097539	Component	Ciliary transition fiber	IBA
GO:0097539	Component	Ciliary transition fiber	IDA	23348840
GO:0097539	Component	Ciliary transition fiber	IEA

MIM	HGNC	e!Ensembl
614848	29182	ENSG00000110274

Protein

UniProt ID

Q9UPV0

Protein name

Centrosomal protein of 164 kDa (Cep164)

Protein function

Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear division

PDB

7NWJ , 7O06 , 7O0S , 7O3B

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Expressed in several cell lines. {ECO:0000269|PubMed:17954613}.

Sequence

MAGRPLRIGDQLVLEEDYDETYIPSEQEILEFAREIGIDPIKEPELMWLAREGIVAPLPG
EWKPCQDITGDIYYFNFANGQSMWDHPCDEHYRSLVIQERAKLSTSGAIKKKKKKKEKKD
KKDRDPPKSSLALGSSLAPVHVPLGGLAPLRGLVDTPPSALRGSQSVSLGSSVESGRQLG
ELMLPSQGLKTSAYTKGLLGSIYEDKTALSLLGLGEETNEEDEEESDNQSVHSSSEPLRN
LHLDIGALGGDFEYEESLRTSQPEEKKDVSLDSDAAGPPTPCKPSSPGADSSLSSAVGKG
RQGSGARPGLPEKEENEKSEPKICRNLVTPKADPTGSEPAKASEKEAPEDTVDAGEEGSR
REEAAKEPKKKASALEEGSSDASQELEISEHMKEPQLSDSIASDPKSFHGLDFGFRSRIS
EHLLDVDVLSPVLGGACRQAQQPLGIEDKDDSQSSQDELQSKQSKGLEERLSPPLPHEER
AQSPPRSLATEEEPPQGPEGQPEWKEAEELGEDSAASLSLQLSLQREQAPSPPAACEKGK
EQHSQAEELGPGQEEAEDPEEKVAVSPTPPVSPEVRSTEPVAPPEQLSEAALKAMEEAVA
QVLEQDQRHLLESKQEKMQQLREKLCQEEEEEILRLHQQKEQSLSSLRERLQKAIEEEEA
RMREEESQRLSWLRAQVQSSTQADEDQIRAEQEASLQKLREELESQQKAERASLEQKNRQ
MLEQLKEEIEASEKSEQAALNAAKEKALQQLREQLEGERKEAVATLEKEHSAELERLCSS
LEAKHREVVSSLQKKIQEAQQKEEAQLQKCLGQVEHRVHQKSYHVAGYEHELSSLLREKR
QEVEGEHERRLDKMKEEHQQVMAKAREQYEAEERKQRAELLGHLTGELERLQRAHERELE
TVRQEQHKRLEDLRRRHREQERKLQDLELDLETRAKDVKARLALLEVQEETARREKQQLL
DVQRQVALKSEEATATHQQLEEAQKEHTHLLQSNQQLREILDELQARKLKLESQVDLLQA
QSQQLQKHFSSLEAEAQKKQHLLREVTVEENNASPHFEPDLHIEDLRKSLGTNQTKEVSS
SLSQSKEDLYLDSLSSHNVWHLLSAEGVALRSAKEFLVQQTRSMRRRQTALKAAQQHWRH
ELASAQEVAKDPPGIKALEDMRKNLEKETRHLDEMKSAMRKGHNLLKKKEEKLNQLESSL
WEEASDEGTLGGSPTKKAVTFDLSDMDSLSSESSESFSPPHREWWRQQRIDSTPSLTSRK
IHGLSHSLRQISSQLSSVLSILDSLNPQSPPPLLASMPAQLPPRDPKSTPTPTYYGSLAR
FSALSSATPTSTQWAWDSGQGPRLPSSVAQTVDDFLLEKWRKYFPSGIPLLSNSPTPLES
RLGYMSASEQLRLLQHSHSQVPEAGSTTFQGIIEANRRWLERVKNDPRLPLFSSTPKPKA
TLSLLQLGLDEHNRVKVYRF

Sequence length

1460

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 AURKA Activation by TPX2

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Nephronophthisis	nephronophthisis 15	rs145646425, rs764893412, rs747914869, rs778819060, rs1565455033, rs1565454034, rs1565649749, rs1565582604, rs387907309, rs140611214, rs387907310, rs1459158279, rs387907311	N/A
retinal dystrophy	Retinal dystrophy	rs747914869, rs2041025786	N/A

Show/Hide Unknown Diseases (2)

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.
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Senior-Loken Syndrome	Senior-Loken syndrome	N/A	N/A	GenCC

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Bardet Biedl Syndrome	Associate	27708425, 32055034
Bronchiectasis	Associate	34556108
Ciliary Motility Disorders	Associate	34556108, 36273371
Ciliopathies	Associate	24882706, 32055034, 34132027, 34499853, 36273371
Cleft Lip	Associate	36008388
Glaucoma 3 Primary Congenital A	Associate	39337513
Hamartoma Syndrome Multiple	Associate	34132027
Hypothalamic hamartomas	Associate	34132027
Nephronophthisis familial juvenile	Associate	24882706
Orofaciodigital Syndromes	Associate	24882706, 34132027
Syndactyly	Associate	34132027
Urogenital Diseases	Associate	34132027

CEP164 (centrosomal protein 164)