Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11190
Gene name Gene Name - the full gene name approved by the HGNC.
Centrosomal protein 250
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CEP250
Synonyms (NCBI Gene) Gene synonyms aliases
C-NAP1, CEP2, CNAP1, CRDHL2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CRDHL2
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q11.22
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle TAS
GO:0000278 Process Mitotic cell cycle IDA 12140259
GO:0001750 Component Photoreceptor outer segment ISS
GO:0001917 Component Photoreceptor inner segment ISS
GO:0005515 Function Protein binding IPI 10880350, 20300119, 20708153, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609689 1859 ENSG00000126001
Protein
UniProt ID 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
WREVVTFRRHFLEMKSATDRDLMELKAEHVRLSGS
LLTCCLRLTVGAQSREPNGSGRMDG
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Usher syndrome Usher Syndrome rs80338903, rs397518008, rs111033367, rs121912598, rs121912599, rs80338902, rs111033364, rs111033272, rs121912600, rs587776538, rs111033334, rs137852839, rs137852840, rs2133130286, rs104894651
View all (734 more)
Unknown
Disease term Disease name Evidence References Source
Cone-Rod Dystrophy And Hearing Loss cone-rod dystrophy and hearing loss 2 GenCC
Associations from Text Mining
Disease Name Relationship Type References
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