• Gene id: 11190

Gene Summary

• Gene Symbol: CEP250   Gene   UCSC   Ensembl
• Aliases: C-NAP1, CEP2, CNAP1, CRDHL2
• Gene name: centrosomal protein 250
• Alternate names: centrosome-associated protein CEP250, 250 kDa centrosomal protein, centrosomal Nek2-associated protein 1,
• Gene location: 20q11.22 (35455136: 35519279)     Exons: 40     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 604660

Protein Summary

• Protein general information: Q9BV73  
  • Name: Centrosome associated protein CEP250 (250 kDa centrosomal protein) (Cep250) (Centrosomal Nek2 associated protein 1) (C Nap1) (Centrosomal protein 2)
  • Length: 2442  
  • Mass: 281137
  • Tissue specificity: Ubiquitously and weakly expressed.
• Sequence:

  METRSPGLNNMKPQSLQLVLEEQVLALQQQMAENQAASWRKLKNSQEAQQRQATLVRKLQAKVLQYRSWCQELEK
  RLEATGGPIPQRWENVEEPNLDELLVRLEEEQQRCESLAEVNTQLRLHMEKADVVNKALREDVEKLTVDWSRARD
  ELMRKESQWQMEQEFFKGYLKGEHGRLLSLWREVVTFRRHFLEMKSATDRDLMELKAEHVRLSGSLLTCCLRLTV
  GAQSREPNGSGRMDGREPAQLLLLLAKTQELEKEAHERSQELIQLKSQGDLEKAELQDRVTELSALLTQSQKQNE
  DYEKMIKALRETVEILETNHTELMEHEASLSRNAQEEKLSLQQVIKDITQVMVEEGDNIAQGSGHENSLELDSSI
  FSQFDYQDADKALTLVRSVLTRRRQAVQDLRQQLAGCQEAVNLLQQQHDQWEEEGKALRQRLQKLTGERDTLAGQ
  TVDLQGEVDSLSKERELLQKAREELRQQLEVLEQEAWRLRRVNVELQLQGDSAQGQKEEQQEELHLAVRERERLQ
  EMLMGLEAKQSESLSELITLREALESSHLEGELLRQEQTEVTAALARAEQSIAELSSSENTLKTEVADLRAAAVK
  LSALNEALALDKVGLNQQLLQLEEENQSVCSRMEAAEQARNALQVDLAEAEKRREALWEKNTHLEAQLQKAEEAG
  AELQADLRDIQEEKEEIQKKLSESRHQQEAATTQLEQLHQEAKRQEEVLARAVQEKEALVREKAALEVRLQAVER
  DRQDLAEQLQGLSSAKELLESSLFEAQQQNSVIEVTKGQLEVQIQTVTQAKEVIQGEVRCLKLELDTERSQAEQE
  RDAAARQLAQAEQEGKTALEQQKAAHEKEVNQLREKWEKERSWHQQELAKALESLEREKMELEMRLKEQQTEMEA
  IQAQREEERTQAESALCQMQLETEKERVSLLETLLQTQKELADASQQLERLRQDMKVQKLKEQETTGILQTQLQE
  AQRELKEAARQHRDDLAALQEESSSLLQDKMDLQKQVEDLKSQLVAQDDSQRLVEQEVQEKLRETQEYNRIQKEL
  EREKASLTLSLMEKEQRLLVLQEADSIRQQELSALRQDMQEAQGEQKELSAQMELLRQEVKEKEADFLAQEAQLL
  EELEASHITEQQLRASLWAQEAKAAQLQLRLRSTESQLEALAAEQQPGNQAQAQAQLASLYSALQQALGSVCESR
  PELSGGGDSAPSVWGLEPDQNGARSLFKRGPLLTALSAEAVASALHKLHQDLWKTQQTRDVLRDQVQKLEERLTD
  TEAEKSQVHTELQDLQRQLSQNQEEKSKWEGKQNSLESELMELHETMASLQSRLRRAELQRMEAQGERELLQAAK
  ENLTAQVEHLQAAVVEARAQASAAGILEEDLRTARSALKLKNEEVESERERAQALQEQGELKVAQGKALQENLAL
  LTQTLAEREEEVETLRGQIQELEKQREMQKAALELLSLDLKKRNQEVDLQQEQIQELEKCRSVLEHLPMAVQERE
  QKLTVQREQIRELEKDRETQRNVLEHQLLELEKKDQMIESQRGQVQDLKKQLVTLECLALELEENHHKMECQQKL
  IKELEGQRETQRVALTHLTLDLEERSQELQAQSSQIHDLESHSTVLARELQERDQEVKSQREQIEELQRQKEHLT
  QDLERRDQELMLQKERIQVLEDQRTRQTKILEEDLEQIKLSLRERGRELTTQRQLMQERAEEGKGPSKAQRGSLE
  HMKLILRDKEKEVECQQEHIHELQELKDQLEQQLQGLHRKVGETSLLLSQREQEIVVLQQQLQEAREQGELKEQS
  LQSQLDEAQRALAQRDQELEALQQEQQQAQGQEERVKEKADALQGALEQAHMTLKERHGELQDHKEQARRLEEEL
  AVEGRRVQALEEVLGDLRAESREQEKALLALQQQCAEQAQEHEVETRALQDSWLQAQAVLKERDQELEALRAESQ
  SSRHQEEAARARAEALQEALGKAHAALQGKEQHLLEQAELSRSLEASTATLQASLDACQAHSRQLEEALRIQEGE
  IQDQDLRYQEDVQQLQQALAQRDEELRHQQEREQLLEKSLAQRVQENMIQEKQNLGQEREEEEIRGLHQSVRELQ
  LTLAQKEQEILELRETQQRNNLEALPHSHKTSPMEEQSLKLDSLEPRLQRELERLQAALRQTEAREIEWREKAQD
  LALSLAQTKASVSSLQEVAMFLQASVLERDSEQQRLQDELELTRRALEKERLHSPGATSTAELGSRGEQGVQLGE
  VSGVEAEPSPDGMEKQSWRQRLEHLQQAVARLEIDRSRLQRHNVQLRSTLEQVERERRKLKREAMRAAQAGSLEI
  SKATASSPTQQDGRGQKNSDAKCVAELQKEVVLLQAQLTLERKQKQDYITRSAQTSRELAGLHHSLSHSLLAVAQ
  APEATVLEAETRRLDESLTQSLTSPGPVLLHPSPSTTQAASR

• Structural information:
  • DIP: 39406
  • STRING: ENSP00000380661
• Other Databases: GeneCards:  CEP250  Malacards:  CEP250

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005813	centrosome	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0036064	ciliary basal body	ISS	cellular component
GO:0060271	cilium assembly	IMP	biological process
GO:0001917	photoreceptor inner segment	ISS	cellular component
GO:0001750	photoreceptor outer segment	ISS	cellular component
GO:0050908	detection of light stimulus involved in visual perception	ISS	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0000086	G2/M transition of mitotic cell cycle	TAS	biological process
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:0097711	ciliary basal body-plasma membrane docking	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0008104	protein localization	IMP	biological process
GO:0008104	protein localization	IMP	biological process
GO:0008104	protein localization	IMP	biological process
GO:0008104	protein localization	IMP	biological process
GO:1905515	non-motile cilium assembly	IMP	biological process
GO:0010457	centriole-centriole cohesion	IMP	biological process
GO:0030997	regulation of centriole-centriole cohesion	IDA	biological process
GO:0005814	centriole	IDA	cellular component
GO:0005814	centriole	IDA	colocalizes with
GO:0005813	centrosome	IDA	cellular component
GO:0000278	mitotic cell cycle	IDA	biological process
GO:0005814	centriole	IDA	cellular component
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0005815	microtubule organizing center	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0010457	centriole-centriole cohesion	IMP	biological process
GO:0010457	centriole-centriole cohesion	IMP	biological process
GO:0033365	protein localization to organelle	IMP	biological process
GO:0008104	protein localization	IMP	biological process
GO:0010457	centriole-centriole cohesion	IMP	biological process
GO:0032991	protein-containing complex	IMP	cellular component
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:1904781	positive regulation of protein localization to centrosome	IMP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881