Centrosomal Protein 290

Alternative Names

CEP290
Centrosomal Protein 290kDa
Antigen Identified By Monoclonal Antibody 3H11
3H11AG
KIAA0373
Nephrocystin 6
NPHP6
BBS14 Gene

Length

93,204 bases

No. of Exons

No. of isoforms

Protein Name

Centrosomal protein of 290 kDa

Molecular Mass

290386 Da

Amino Acid Count

2479

Genomic Location

chr12:88,049,012-88,142,215

Gene Map Locus

12q21.32

Description

CEP290 gene encodes CEP290 protein which localizes to the centrosomes of mitotic cells and to the nucleus and also localizes to the basal bodies at the base of the ciliary apparatus in many different cell types. Several mutations in CEP290 gene have been identified that result in abnormally short versions of the CEP290 protein. These defective proteins lead to ciliopathies, including Joubert syndrome, Meckel syndrome, Senior-Løken syndrome, and Bardet-Biedl syndrome.

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_025114.3:c.4792_4795del	United Arab Emirates	NC_000012.12:g.88083869_88083872del	Likely Pathogenic, Pathogenic	Pathogenic	Joubert Syndrome 5	NG_008417.1:g.63350_63353del; NM_025114.3:c.4792_4795del; NP_079390.3:p.Lys1598SerfsTer8	1592833648	635087
NM_025114.4:c.1860_1863del	United Arab Emirates	NC_000012.12:g.88115145CTTT[1]	Pathogenic	Pathogenic	Meckel Syndrome, Type 4	NG_008417.1:g.32066AAGA[1]; NM_025114.4:c.1860_1863del; NP_079390.3:p.Arg621IlefsTer2	766608755	194988
NM_025114.4:c.2963A>C	Saudi Arabia	NC_000012.12:g.88102866T>G				NG_008417.2:g.44351A>C; NM_025114.4:c.2963A>C; NP_079390.3:p.Gln988Pro
NM_025114.4:c.3775_3776delAG	Saudi Arabia	chr12:88089283-88089284	Likely Pathogenic	Pathogenic	Joubert Syndrome 5	NG_008417.2:g.57931_57932AG; NM_025114.4:c.3775_3776delAG; NP_079390.3:p.Arg1259fs	765483163	191278
NM_025114.4:c.4714G>T	Saudi Arabia	NC_000012.12:g.88083945C>A	Pathogenic	Pathogenic	Joubert Syndrome 5	NG_008417.1:g.63272G>T; NM_025114.4:c.4714G>T; NP_079390.3:p.Glu1572Ter	1292516576	993032
NM_025114.4:c.5668G>T	Saudi Arabia; Syria; U...	NC_000012.12:g.88077263C>A	Likely Pathogenic, Pathogenic	Pathogenic	Retinitis Pigmentosa; Joubert Syndrome 5; Meckel Syndrome, Type 4	NG_008417.2:g.69954G>T; NM_025114.4:c.5668G>T; NP_079390.3:p.Gly1890Ter	137852832	1333
NM_025114.4:c.5824C>T	Palestine	chr12:88071812		Pathogenic	Joubert Syndrome 5	NG_008417.2:g.75405C>T; NM_025114.4:c.5824C>T; NP_079390.3:p.Gln1942Ter	763345078
NM_025114.4:c.5932C>T	United Arab Emirates	NC_000012.12:g.88071373G>A	Pathogenic	Pathogenic	Joubert Syndrome 5	NG_008417.2:g.75844C>T; NM_025114.4:c.5932C>T; NP_079390.3:p.Arg1978Ter	371525247	217637
NM_025114.4:c.6011+160G>A	Saudi Arabia	NC_000012.12:g.88071134C>T		Benign		NG_008417.2:g.76083G>A; NM_025114.4:c.6011+160G>A
NM_025114.4:c.6271-113T>C	Saudi Arabia	NC_000012.12:g.88062891A>G		Benign		NG_008417.2:g.84326T>C; NM_025114.4:c.6271-113T>C

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Other Reports

Saudi Arabia

Shaheen et al. (2013) carried out a study to determine the underlying genetic defects in Saudi MKS patients. Individuals with occipital encephalocele as well as any combination of liver fibrosis, cleft palate, dysplastic kidneys, polydactyly and early lethality were diagnosed as having MKS syndrome. A total of 18 families with MKS affected members were recruited for the study and DNA was collected from both affected and unaffected members. All the families were consanguineous and hence an autozygome guided mutation analysis of known MKS genes was undertaken. This led to the identification of two CEP290 mutations in many families: c1860_1863delAAGA (p.Arg621Ilefs2) and c.613C>T (p.R205).

External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP290 https://medlineplus.gov/genetics/gene/cep290/

Contributors

Asha Deepthi: 30.09.2022
Asha Deepthi: 31.10.2021
Pratibha Nair: 05.10.2021
Sayeeda Hana: 04.12.2016
Sayeeda Hana: 22.08.2016
Nada Assaf: 01.05.2013

Edit History

Asha Deepthi: 30.09.2022
Pratibha Nair: 06.07.2022
Asha Deepthi: 31.10.2021
Sayeeda Hana: 06.10.2021
Pratibha Nair: 05.10.2021
Sami Bizzari: 27.03.2017
Pratibha Nair: 25.07.2013

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