CDK5 Regulatory Subunit-Associated Protein 2

Alternative Names

CDK5RAP2
Centrosomal Protein, 215-KD
CEP215
KIAA1633

Length

191,302 bases

No. of Exons

No. of isoforms

Protein Name

CDK5 regulatory subunit-associated protein 2

Molecular Mass

215038 Da

Amino Acid Count

1893

Genomic Location

chr9:120,388,869-120,580,170

Gene Map Locus

9q33.2

Description

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 microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001011649.2:c.384_2106del	Saudi Arabia	NC_000009.12:g.120467862_120539166del		Likely Pathogenic	Microcephaly 3, Primary, Autosomal Recessive	NM_001011649.2:c.384_2106del; NP_001011649.1:p.Lys129PhefsTer22
NM_001011649.3:c.140del	Saudi Arabia	NC_000009.12:g.120568376del	Likely Pathogenic	Likely Pathogenic	Microcephaly 3, Primary, Autosomal Recessive	NG_008999.1:g.16784del; NM_001011649.3:c.140del; NP_001011649.1:p.Val47fs	786205660	191346
NM_001011649.3:c.4005-15A>G	Egypt	NC_000009.12:g.120419975T>C	Pathogenic	Pathogenic	Microcephaly 3, Primary, Autosomal Recessive	NG_008999.1:g.165185A>G; NM_001011649.3:c.4005-15A>G	387906274	2489
NM_018249.6:c.1316T>A	Saudi Arabia	NC_000009.12:g.120491473A>T		Uncertain Significance	Microcephaly 3, Primary, Autosomal Recessive	NG_008999.1:g.93687T>A; NM_018249.6:c.1316T>A; NP_060719.4:p.Leu439His
NM_018249.6:c.412G>A	United Arab Emirates	NC_000009.12:g.120539136C>T	Likely Benign, Uncertain Significance	Likely Benign		NG_008999.1:g.46024G>A; NM_018249.6:c.412G>A; NP_060719.4:p.Gly138Ser	61756286	379320
NM_018249.6:c.4672C>T	Saudi Arabia	NC_000009.12:g.120408401G>A	Pathogenic	Pathogenic	Microcephaly 3, Primary, Autosomal Recessive	NG_008999.1:g.176759C>T; NM_018249.6:c.4672C>T; NP_060719.4:p.Arg1558Ter	373278668	91407
NM_018249.6:c.564_565dup	Tunisia	NC_000009.12:g.120536469TC[3]	Pathogenic	Pathogenic	Microcephaly 3, Primary, Autosomal Recessive	NG_008999.1:g.48688GA[3]; NM_018249.6:c.564_565dup; NP_060719.4:p.Lys189ArgfsTer15	2131964849	1177460

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External Links

https://ghr.nlm.nih.gov/gene/CDK5RAP2 https://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK5RAP2

Contributors

Pratibha Nair: 06.07.2020

Edit History

Sayeeda Hana: 10.11.2021
Pratibha Nair: 06.07.2020
Sami Bizzari: 23.12.2018

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