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	11190
Gene name	Centrosomal protein 250
Gene symbol	CEP250
Synonyms (NCBI Gene)	C-NAP1CEP2CNAP1CRDHL2
Chromosome	20
Chromosome location	20q11.22
Summary	This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein ass

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs749314857	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, synonymous variant
rs774702094	C>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, missense variant
rs1341298773	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, non coding transcript variant, upstream transcript variant, 5 prime UTR variant
rs1369076411	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs1568820302	A>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant

Show/Hide all (43)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046692	hsa-miR-222-3p	CLASH	23622248
MIRT042169	hsa-miR-484	CLASH	23622248
MIRT040255	hsa-miR-615-3p	CLASH	23622248
MIRT1962756	hsa-miR-1252	CLIP-seq
MIRT1962757	hsa-miR-1253	CLIP-seq
MIRT1962758	hsa-miR-3173-3p	CLIP-seq
MIRT1962759	hsa-miR-3689d	CLIP-seq
MIRT1962760	hsa-miR-425	CLIP-seq
MIRT1962761	hsa-miR-4428	CLIP-seq
MIRT1962762	hsa-miR-4434	CLIP-seq
MIRT1962763	hsa-miR-4516	CLIP-seq
MIRT1962764	hsa-miR-642b	CLIP-seq
MIRT2199083	hsa-miR-105	CLIP-seq
MIRT2199084	hsa-miR-1236	CLIP-seq
MIRT2199085	hsa-miR-124	CLIP-seq
MIRT2199086	hsa-miR-125a-3p	CLIP-seq
MIRT2199087	hsa-miR-1262	CLIP-seq
MIRT2199088	hsa-miR-1292	CLIP-seq
MIRT2199089	hsa-miR-1321	CLIP-seq
MIRT2199090	hsa-miR-1343	CLIP-seq
MIRT2199091	hsa-miR-1915	CLIP-seq
MIRT2199092	hsa-miR-219-1-3p	CLIP-seq
MIRT2199093	hsa-miR-3152-5p	CLIP-seq
MIRT2199094	hsa-miR-3162-5p	CLIP-seq
MIRT2199095	hsa-miR-326	CLIP-seq
MIRT2199096	hsa-miR-330-5p	CLIP-seq
MIRT2199097	hsa-miR-3678-3p	CLIP-seq
MIRT2199098	hsa-miR-3682-5p	CLIP-seq
MIRT2199099	hsa-miR-4259	CLIP-seq
MIRT2199100	hsa-miR-4471	CLIP-seq
MIRT2199101	hsa-miR-4646-5p	CLIP-seq
MIRT2199102	hsa-miR-4699-3p	CLIP-seq
MIRT2199103	hsa-miR-4701-3p	CLIP-seq
MIRT2199104	hsa-miR-4708-3p	CLIP-seq
MIRT2199105	hsa-miR-4726-3p	CLIP-seq
MIRT2199106	hsa-miR-4739	CLIP-seq
MIRT2199107	hsa-miR-4756-5p	CLIP-seq
MIRT2199108	hsa-miR-4774-3p	CLIP-seq
MIRT2199109	hsa-miR-506	CLIP-seq
MIRT2199110	hsa-miR-571	CLIP-seq
MIRT2199111	hsa-miR-587	CLIP-seq
MIRT2199112	hsa-miR-629	CLIP-seq
MIRT2199090	hsa-miR-1343	CLIP-seq

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000278	Process	Mitotic cell cycle	IDA	12140259
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001750	Component	Photoreceptor outer segment	ISS
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0001917	Component	Photoreceptor inner segment	ISS
GO:0005515	Function	Protein binding	IPI	9647649, 10880350, 18851962, 20300119, 20708153, 30404835, 32814053, 36217029
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	9647649, 21399614, 31974111
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IBA
GO:0005814	Component	Centriole	IDA	11076968
GO:0005814	Component	Centriole	IDA	18851962, 24421332, 26337392, 27623382, 36282799
GO:0005814	Component	Centriole	IEA
GO:0005815	Component	Microtubule organizing center	NAS	9647649
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0008104	Process	Intracellular protein localization	IMP	18851962, 23213374
GO:0010457	Process	Centriole-centriole cohesion	IDA	36282799
GO:0010457	Process	Centriole-centriole cohesion	IMP	11076968, 18851962, 23213374, 24554434
GO:0019904	Function	Protein domain specific binding	IPI	24554434
GO:0030030	Process	Cell projection organization	IEA
GO:0030997	Process	Regulation of centriole-centriole cohesion	IDA	9647649
GO:0031616	Component	Spindle pole centrosome	IEA
GO:0032991	Component	Protein-containing complex	IMP	10880350
GO:0033365	Process	Protein localization to organelle	IMP	24554434
GO:0036064	Component	Ciliary basal body	IDA
GO:0036064	Component	Ciliary basal body	IEA
GO:0036064	Component	Ciliary basal body	ISS
GO:0042995	Component	Cell projection	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	ISS
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IMP	28005958
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071539	Process	Protein localization to centrosome	IMP	30404835
GO:1904781	Process	Positive regulation of protein localization to centrosome	IMP	27623382
GO:1905515	Process	Non-motile cilium assembly	IMP	23789104

MIM	HGNC	e!Ensembl
609689	1859	ENSG00000126001

Q9BV73

Protein name

Centrosome-associated protein CEP250 (250 kDa centrosomal protein) (Cep250) (Centrosomal Nek2-associated protein 1) (C-Nap1) (Centrosomal protein 2)

Protein function

Plays an important role in centrosome cohesion during interphase (PubMed:30404835, PubMed:36282799). Recruits CCDC102B to the proximal ends of centrioles (PubMed:30404835). Maintains centrosome cohesion by forming intercentriolar linkages (PubMe

PDB

6OQA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15035	Rootletin	39 → 215		Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously and weakly expressed.

Sequence

METRSPGLNNMKPQSLQLVLEEQVLALQQQMAENQAASWRKLKNSQEAQQRQATLVRKLQ
AKVLQYRSWCQELEKRLEATGGPIPQRWENVEEPNLDELLVRLEEEQQRCESLAEVNTQL
RLHMEKADVVNKALREDVEKLTVDWSRARDELMRKESQWQMEQEFFKGYLKGEHGRLLSL
WREVVTFRRHFLEMKSATDRDLMELKAEHVRLSGSLLTCCLRLTVGAQSREPNGSGRMDG
REPAQLLLLLAKTQELEKEAHERSQELIQLKSQGDLEKAELQDRVTELSALLTQSQKQNE
DYEKMIKALRETVEILETNHTELMEHEASLSRNAQEEKLSLQQVIKDITQVMVEEGDNIA
QGSGHENSLELDSSIFSQFDYQDADKALTLVRSVLTRRRQAVQDLRQQLAGCQEAVNLLQ
QQHDQWEEEGKALRQRLQKLTGERDTLAGQTVDLQGEVDSLSKERELLQKAREELRQQLE
VLEQEAWRLRRVNVELQLQGDSAQGQKEEQQEELHLAVRERERLQEMLMGLEAKQSESLS
ELITLREALESSHLEGELLRQEQTEVTAALARAEQSIAELSSSENTLKTEVADLRAAAVK
LSALNEALALDKVGLNQQLLQLEEENQSVCSRMEAAEQARNALQVDLAEAEKRREALWEK
NTHLEAQLQKAEEAGAELQADLRDIQEEKEEIQKKLSESRHQQEAATTQLEQLHQEAKRQ
EEVLARAVQEKEALVREKAALEVRLQAVERDRQDLAEQLQGLSSAKELLESSLFEAQQQN
SVIEVTKGQLEVQIQTVTQAKEVIQGEVRCLKLELDTERSQAEQERDAAARQLAQAEQEG
KTALEQQKAAHEKEVNQLREKWEKERSWHQQELAKALESLEREKMELEMRLKEQQTEMEA
IQAQREEERTQAESALCQMQLETEKERVSLLETLLQTQKELADASQQLERLRQDMKVQKL
KEQETTGILQTQLQEAQRELKEAARQHRDDLAALQEESSSLLQDKMDLQKQVEDLKSQLV
AQDDSQRLVEQEVQEKLRETQEYNRIQKELEREKASLTLSLMEKEQRLLVLQEADSIRQQ
ELSALRQDMQEAQGEQKELSAQMELLRQEVKEKEADFLAQEAQLLEELEASHITEQQLRA
SLWAQEAKAAQLQLRLRSTESQLEALAAEQQPGNQAQAQAQLASLYSALQQALGSVCESR
PELSGGGDSAPSVWGLEPDQNGARSLFKRGPLLTALSAEAVASALHKLHQDLWKTQQTRD
VLRDQVQKLEERLTDTEAEKSQVHTELQDLQRQLSQNQEEKSKWEGKQNSLESELMELHE
TMASLQSRLRRAELQRMEAQGERELLQAAKENLTAQVEHLQAAVVEARAQASAAGILEED
LRTARSALKLKNEEVESERERAQALQEQGELKVAQGKALQENLALLTQTLAEREEEVETL
RGQIQELEKQREMQKAALELLSLDLKKRNQEVDLQQEQIQELEKCRSVLEHLPMAVQERE
QKLTVQREQIRELEKDRETQRNVLEHQLLELEKKDQMIESQRGQVQDLKKQLVTLECLAL
ELEENHHKMECQQKLIKELEGQRETQRVALTHLTLDLEERSQELQAQSSQIHDLESHSTV
LARELQERDQEVKSQREQIEELQRQKEHLTQDLERRDQELMLQKERIQVLEDQRTRQTKI
LEEDLEQIKLSLRERGRELTTQRQLMQERAEEGKGPSKAQRGSLEHMKLILRDKEKEVEC
QQEHIHELQELKDQLEQQLQGLHRKVGETSLLLSQREQEIVVLQQQLQEAREQGELKEQS
LQSQLDEAQRALAQRDQELEALQQEQQQAQGQEERVKEKADALQGALEQAHMTLKERHGE
LQDHKEQARRLEEELAVEGRRVQALEEVLGDLRAESREQEKALLALQQQCAEQAQEHEVE
TRALQDSWLQAQAVLKERDQELEALRAESQSSRHQEEAARARAEALQEALGKAHAALQGK
EQHLLEQAELSRSLEASTATLQASLDACQAHSRQLEEALRIQEGEIQDQDLRYQEDVQQL
QQALAQRDEELRHQQEREQLLEKSLAQRVQENMIQEKQNLGQEREEEEIRGLHQSVRELQ
LTLAQKEQEILELRETQQRNNLEALPHSHKTSPMEEQSLKLDSLEPRLQRELERLQAALR
QTEAREIEWREKAQDLALSLAQTKASVSSLQEVAMFLQASVLERDSEQQRLQDELELTRR
ALEKERLHSPGATSTAELGSRGEQGVQLGEVSGVEAEPSPDGMEKQSWRQRLEHLQQAVA
RLEIDRSRLQRHNVQLRSTLEQVERERRKLKREAMRAAQAGSLEISKATASSPTQQDGRG
QKNSDAKCVAELQKEVVLLQAQLTLERKQKQDYITRSAQTSRELAGLHHSLSHSLLAVAQ
APEATVLEAETRRLDESLTQSLTSPGPVLLHPSPSTTQAASR

Sequence length

2442

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

110

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CEP250-related disorder	Likely pathogenic; Pathogenic	rs1243282597, rs2063839688, rs1568806160	RCV003399201 RCV004753586 RCV003966712
Cone-rod dystrophy and hearing loss 2	Pathogenic; Likely pathogenic	rs200263031, rs774612231, rs1051944154, rs757158876, rs749883566, rs1345217165, rs749314857, rs1341298773, rs1369076411, rs1568820302, rs774702094, rs2064077764, rs2064092893, rs2064043746	RCV004774443 RCV004795347 RCV004795348 RCV004774700 RCV005356156 RCV004795349 RCV000761198 RCV000761199 RCV000761200 RCV000761201 RCV000761202 RCV005418968 RCV005418955 RCV004795345
Gastric cancer	Likely pathogenic; Pathogenic	rs774702094	RCV005897332
Retinal dystrophy	Pathogenic	rs1388902455	RCV004816832
Thyroid cancer, nonmedullary, 1	Pathogenic	rs774612231	RCV005924302
Usher syndrome	Likely pathogenic; Pathogenic	rs749314857	RCV001002934

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs10439606	RCV005924889
Cervical cancer	Benign	rs76603816	RCV005911843
Colon adenocarcinoma	Likely benign	rs139021763	RCV005912681
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2515658920	RCV004558120
Familial cancer of breast	Likely benign	rs200780994	RCV005912905
Lung cancer	Benign	rs764076037, rs76603816	RCV005927874 RCV005911847
Malignant tumor of esophagus	Benign	rs578203793	RCV005925957
Monogenic hearing loss	Conflicting classifications of pathogenicity	rs200083040	RCV006261991
Optic atrophy	Uncertain significance	rs545422424, rs775044379, rs138568893	RCV004815351 RCV004817101 RCV004813658
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs762264533, rs76603816	RCV005912859 RCV005911845
Sarcoma	Benign; Uncertain significance	rs10439606, rs76603816, rs146309487	RCV005924890 RCV005911844 RCV005908994
Squamous cell lung carcinoma	Uncertain significance	rs1171819903	RCV005925405
Thymoma	Benign	rs76603816	RCV005911846
Uterine corpus endometrial carcinoma	Benign	rs10439606, rs76603816	RCV005924891 RCV005911848

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	36705386
Carcinoma Hepatocellular	Associate	33109182
Cone Rod Dystrophies	Associate	29718797, 30459346
COVID 19	Associate	32606248
Disease	Associate	29718797
Hearing Loss	Associate	30459346
Hearing Loss Sensorineural	Associate	29718797, 34223797
Hypoalphalipoproteinemias	Associate	32541515
Lymphoma	Associate	21887344
Lymphoma B Cell	Associate	21887344
Lymphoma T Cell	Stimulate	21887344
Lymphoma T Cell Peripheral	Associate	21887344
Nasopharyngeal Carcinoma	Associate	32541515
Pancreatic Neoplasms	Associate	38203311
Retinal Diseases	Associate	34223797
Retinitis Pigmentosa	Associate	29718797
Usher Syndromes	Associate	27588452, 29718797, 30459346
Vision Disorders	Associate	30459346

CEP250 (centrosomal protein 250)