Centrosomal Protein 290

Alternative Names

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

610142

NCBI Gene ID

80184

Uniprot ID

O15078

Length

93,204 bases

No. of Exons

60

No. of isoforms

1

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

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_025114.3:c.4792_4795delUnited Arab EmiratesNC_000012.12:g.88083869_88083872delLikely Pathogenic, PathogenicPathogenicJoubert Syndrome 5NG_008417.1:g.63350_63353del; NM_025114.3:c.4792_4795del; NP_079390.3:p.Lys1598SerfsTer81592833648635087
NM_025114.4:c.1860_1863delUnited Arab EmiratesNC_000012.12:g.88115145CTTT[1]PathogenicPathogenicMeckel Syndrome, Type 4NG_008417.1:g.32066AAGA[1]; NM_025114.4:c.1860_1863del; NP_079390.3:p.Arg621IlefsTer2766608755194988
NM_025114.4:c.2963A>CSaudi ArabiaNC_000012.12:g.88102866T>GNG_008417.2:g.44351A>C; NM_025114.4:c.2963A>C; NP_079390.3:p.Gln988Pro
NM_025114.4:c.3775_3776delAGSaudi Arabiachr12:88089283-88089284Likely PathogenicPathogenicJoubert Syndrome 5NG_008417.2:g.57931_57932AG; NM_025114.4:c.3775_3776delAG; NP_079390.3:p.Arg1259fs765483163191278
NM_025114.4:c.4714G>TSaudi ArabiaNC_000012.12:g.88083945C>APathogenicPathogenicJoubert Syndrome 5NG_008417.1:g.63272G>T; NM_025114.4:c.4714G>T; NP_079390.3:p.Glu1572Ter1292516576993032
NM_025114.4:c.5668G>TSaudi Arabia; United A...NC_000012.12:g.88077263C>ALikely Pathogenic, PathogenicPathogenicJoubert Syndrome 5; Meckel Syndrome, Type 4NG_008417.2:g.69954G>T; NM_025114.4:c.5668G>T; NP_079390.3:p.Gly1890Ter1378528321333
NM_025114.4:c.5824C>TPalestinechr12:88071812PathogenicJoubert Syndrome 5NG_008417.2:g.75405C>T; NM_025114.4:c.5824C>T; NP_079390.3:p.Gln1942Ter763345078
NM_025114.4:c.5932C>TUnited Arab EmiratesNC_000012.12:g.88071373G>APathogenicPathogenicJoubert Syndrome 5NG_008417.2:g.75844C>T; NM_025114.4:c.5932C>T; NP_079390.3:p.Arg1978Ter371525247217637
NM_025114.4:c.6011+160G>ASaudi ArabiaNC_000012.12:g.88071134C>TBenignNG_008417.2:g.76083G>A; NM_025114.4:c.6011+160G>A
NM_025114.4:c.6271-113T>CSaudi ArabiaNC_000012.12:g.88062891A>GBenignNG_008417.2:g.84326T>C; NM_025114.4:c.6271-113T>C

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).  

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