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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	22897
Gene name	Centrosomal protein 164
Gene symbol	CEP164
Synonyms (NCBI Gene)	NPHP15
Chromosome	11
Chromosome location	11q23.3
Summary	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

Show/Hide all (15)

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

Show/Hide all (64)

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

Show/Hide all (22)

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

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

1381

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CEP164-related disorder	Likely pathogenic; Pathogenic	rs370034077, rs2044893024, rs2541982138	RCV004753300 RCV004753570 RCV003414300
Nephronophthisis 15	Pathogenic; Likely pathogenic	rs377597884, rs1269878493, rs1482717760, rs951827564, rs149195472, rs2041099865, rs370034077, rs1489883516, rs2042674113, rs2136318333, rs2041251614, rs1279037770, rs774951398, rs2136940605, rs2136139535 View all (76 more)	RCV001314234 RCV001318691 RCV001319267 RCV001352557 RCV001361797 RCV001371877 RCV001372343 RCV001369400 RCV001536031 RCV001939395 RCV001994202 RCV002035194 RCV001934553 RCV001976113 RCV001942109 RCV001939502 RCV001879106 RCV001946926 RCV002038106 RCV001903908 RCV001883864 RCV001948653 RCV002015797 RCV002039923 RCV003052846 RCV003065349 RCV003085651 RCV003076066 RCV002510410 RCV003111940 RCV002572714 RCV002645766 RCV002623216 RCV002676044 RCV002700573 RCV002800166 RCV002756788 RCV002846545 RCV002837941 RCV002851384 RCV002889498 RCV002886398 RCV002914731 RCV002938986 RCV002993781 RCV002988558 RCV003025895 RCV003017500 RCV003033007 RCV003046906 RCV003052213 RCV005047563 RCV003534054 RCV003534284 RCV003531421 RCV003531462 RCV003531642 RCV003531807 RCV003531897 RCV003532543 RCV003532544 RCV003532399 RCV003648154 RCV003647719 RCV003647702 RCV003648726 RCV003648864 RCV003648898 RCV003813890 RCV003826144 RCV003810694 RCV000030833 RCV000030834 RCV000030835 RCV000030836 RCV000030837 RCV000692933 RCV000704782 RCV000701490 RCV003647802 RCV003768173 RCV000785135 RCV001069563 RCV001055384 RCV001195792 RCV001236565 RCV001247354 RCV001235812 RCV001280877 RCV001280878 RCV001299006 RCV001306862
Renal dysplasia and retinal aplasia	Likely pathogenic	rs193201363	RCV005420436
Retinal dystrophy	Likely pathogenic; Pathogenic	rs747914869, rs2041025786	RCV004817942 RCV001074448
Squamous cell lung carcinoma	Likely pathogenic	rs2044759367	RCV005928653

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs494553	RCV005893958
Adrenocortical carcinoma, hereditary	Benign	rs494553	RCV005893960
Cholangiocarcinoma	Benign	rs494553	RCV005893965
Colon adenocarcinoma	Benign	rs494553	RCV005893957
Colorectal cancer	Benign	rs897837, rs494553	RCV005893954 RCV005893962
Familial cancer of breast	Benign	rs897837	RCV005893951
Gastric cancer	Likely benign	rs373984666	RCV005921179
Hepatocellular carcinoma	Benign	rs897837, rs494553	RCV005893952 RCV005893959
Malignant lymphoma, large B-cell, diffuse	Benign	rs897837, rs494553	RCV005893953 RCV005893961
Melanoma	Benign	rs494553	RCV005893964
Nephronophthisis	Uncertain significance	rs200520898	RCV001328050
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs2137006602	RCV005925444
Sarcoma	Benign	rs116804346	RCV005893956
Thymoma	Benign	rs494553	RCV005893963
Uterine carcinosarcoma	Benign	rs897837	RCV005893955
Uterine corpus endometrial carcinoma	Benign	rs494553	RCV005893966
Uveal melanoma	Benign	rs484988	RCV005915780

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)