• Gene id: 55755

Gene Summary

• Gene Symbol: CDK5RAP2   Gene   UCSC   Ensembl
• Aliases: C48, Cep215, MCPH3
• Gene name: CDK5 regulatory subunit associated protein 2
• Alternate names: CDK5 regulatory subunit-associated protein 2, CDK5 activator-binding protein C48, centrosomal protein 215 kDa, centrosomin,
• Gene location: 9q33.2 (21140513: 21149096)     Exons: 5     NC_000013.11
• Gene summary(Entrez): This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubu
• OMIM: 608201

Protein Summary

• Protein general information: Q96SN8  
  • Name: CDK5 regulatory subunit associated protein 2 (CDK5 activator binding protein C48) (Centrosome associated protein 215)
  • Length: 1893  
  • Mass: 215038
  • Tissue specificity: Widely expressed. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO
• Sequence:

  MMDLVLEEDVTVPGTLSGCSGLVPSVPDDLDGINPNAGLGNGLLPNVSEETVSPTRARNMKDFENQITELKKENF
  NLKLRIYFLEERMQQEFHGPTEHIYKTNIELKVEVESLKRELQEREQLLIKASKAVESLAEAGGSEIQRVKEDAR
  KKVQQVEDLLTKRILLLEKDVTAAQAELEKAFAGTETEKALRLRLESKLSEMKKMHEGDLAMALVLDEKDRLIEE
  LKLSLKSKEALIQCLKEEKSQMACPDENVSSGELRGLCAAPREEKERETEAAQMEHQKERNSFEERIQALEEDLR
  EKEREIATEKKNSLKRDKAIQGLTMALKSKEKKVEELNSEIEKLSAAFAKAREALQKAQTQEFQGSEDYETALSG
  KEALSAALRSQNLTKSTENHRLRRSIKKITQELSDLQQERERLEKDLEEAHREKSKGDCTIRDLRNEVEKLRNEV
  NEREKAMENRYKSLLSESNKKLHNQEQVIKHLTESTNQKDVLLQKFNEKDLEVIQQNCYLMAAEDLELRSEGLIT
  EKCSSQQPPGSKTIFSKEKKQSSDYEELIQVLKKEQDIYTHLVKSLQESDSINNLQAELNKIFALRKQLEQDVLS
  YQNLRKTLEEQISEIRRREEESFSLYSDQTSYLSICLEENNRFQVEHFSQEELKKKVSDLIQLVKELYTDNQHLK
  KTIFDLSCMGFQGNGFPDRLASTEQTELLASKEDEDTIKIGEDDEINFLSDQHLQQSNEIMKDLSKGGCKNGYLR
  HTESKISDCDGAHAPGCLEEGAFINLLAPLFNEKATLLLESRPDLLKVVRELLLGQLFLTEQEVSGEHLDGKTEK
  TPKQKGELVHFVQTNSFSKPHDELKLSCEAQLVKAGEVPKVGLKDASVQTVATEGDLLRFKHEATREAWEEKPIN
  TALSAEHRPENLHGVPGWQAALLSLPGITNREAKKSRLPILIKPSRSLGNMYRLPATQEVVTQLQSQILELQGEL
  KEFKTCNKQLHQKLILAEAVMEGRPTPDKTLLNAQPPVGAAYQDSPGEQKGIKTTSSVWRDKEMDSDQQRSYEID
  SEICPPDDLASLPSCKENPEDVLSPTSVATYLSSKSQPSAKVSVMGTDQSESINTSNETEYLKQKIHDLETELEG
  YQNFIFQLQKHSQCSEAIITVLCGTEGAQDGLSKPKNGSDGEEMTFSSLHQVRYVKHVKILGPLAPEMIDSRVLE
  NLKQQLEEQEYKLQKEQNLNMQLFSEIHNLQNKFRDLSPPRYDSLVQSQARELSLQRQQIKDGHGICVISRQHMN
  TMIKAFEELLQASDVDYCVAEGFQEQLNQCAELLEKLEKLFLNGKSVGVEMNTQNELMERIEEDNLTYQHLLPES
  PEPSASHALSDYETSEKSFFSRDQKQDNETEKTSVMVNSFSQDLLMEHIQEIRTLRKRLEESIKTNEKLRKQLER
  QGSEFVQGSTSIFASGSELHSSLTSEIHFLRKQNQALNAMLIKGSRDKQKENDKLRESLSRKTVSLEHLQREYAS
  VKEENERLQKEGSEKERHNQQLIQEVRCSGQELSRVQEEVKLRQQLLSQNDKLLQSLRVELKAYEKLDEEHRRLR
  EASGEGWKGQDPFRDLHSLLMEIQALRLQLERSIETSSTLQSRLKEQLARGAEKAQEGALTLAVQAVSIPEVPLQ
  PDKHDGDKYPMESDNSFDLFDSSQAVTPKSVSETPPLSGNDTDSLSCDSGSSATSTPCVSRLVTGHHLWASKNGR
  HVLGLIEDYEALLKQISQGQRLLAEMDIQTQEAPSSTSQELGTKGPHPAPLSKFVSSVSTAKLTLEEAYRRLKLL
  WRVSLPEDGQCPLHCEQIGEMKAEVTKLHKKLFEQEKKLQNTMKLLQLSKRQEKVIFDQLVVTHKILRKARGNLE
  LRPGGAHPGTCSPSRPGS

• Structural information:
  • Interpro: IPR042791  IPR012943  
  • DIP: 31632
  • STRING: ENSP00000343818
• Other Databases: GeneCards:  CDK5RAP2  Malacards:  CDK5RAP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000132	establishment of mitotic spindle orientation	IBA	biological process
GO:0000242	pericentriolar material	IBA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005516	calmodulin binding	IBA	molecular function
GO:0007099	centriole replication	IBA	biological process
GO:0008017	microtubule binding	IBA	molecular function
GO:0008274	gamma-tubulin ring complex	IBA	colocalizes with
GO:0031116	positive regulation of microtubule polymerization	IBA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IBA	biological process
GO:0048471	perinuclear region of cytoplasm	IBA	cellular component
GO:0097431	mitotic spindle pole	IBA	cellular component
GO:0001578	microtubule bundle formation	IBA	biological process
GO:0007059	chromosome segregation	IBA	biological process
GO:0019901	protein kinase binding	IBA	molecular function
GO:0035371	microtubule plus-end	IBA	cellular component
GO:0043015	gamma-tubulin binding	IBA	molecular function
GO:0046600	negative regulation of centriole replication	IBA	biological process
GO:0090266	regulation of mitotic cell cycle spindle assembly checkpoint	IBA	biological process
GO:0005516	calmodulin binding	IDA	molecular function
GO:0005813	centrosome	IDA	cellular component
GO:0008274	gamma-tubulin ring complex	IDA	colocalizes with
GO:0005813	centrosome	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0043015	gamma-tubulin binding	IDA	molecular function
GO:0035371	microtubule plus-end	IDA	cellular component
GO:0031116	positive regulation of microtubule polymerization	IMP	biological process
GO:0007099	centriole replication	IMP	biological process
GO:0022008	neurogenesis	ISS	biological process
GO:0015631	tubulin binding	IPI	molecular function
GO:0000132	establishment of mitotic spindle orientation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031023	microtubule organizing center organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007098	centrosome cycle	IMP	biological process
GO:0046600	negative regulation of centriole replication	ISS	biological process
GO:0007420	brain development	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000226	microtubule cytoskeleton organization	IEA	biological process
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005874	microtubule	IEA	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097431	mitotic spindle pole	IEA	cellular component
GO:0022008	neurogenesis	IEA	biological process
GO:0005813	centrosome	IEA	cellular component
GO:0000132	establishment of mitotic spindle orientation	IEA	biological process
GO:0046600	negative regulation of centriole replication	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0090266	regulation of mitotic cell cycle spindle assembly checkpoint	IDA	biological process
GO:0005874	microtubule	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0000922	spindle pole	IDA	cellular component
GO:0000922	spindle pole	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0001578	microtubule bundle formation	IDA	biological process
GO:0000226	microtubule cytoskeleton organization	IDA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0005813	centrosome	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0000242	pericentriolar material	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0008017	microtubule binding	IDA	molecular function
GO:0005813	centrosome	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005856	cytoskeleton	NAS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0045664	regulation of neuron differentiation	NAS	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0007420	brain development	NAS	biological process
GO:0007059	chromosome segregation	IMP	biological process

Diseases

Associated diseases	References
Primary microcephaly	KEGG:H00269
Primary microcephaly	KEGG:H00269
Seckel syndrome	PMID:26436113
Primary autosomal recessive microcephaly 3	PMID:23587236
Microcephaly	PMID:26436113
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R