C2 Calcium-Dependent Domain-Containing Protein 3

Alternative Names

  • C2CD3
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OMIM Number

615944

NCBI Gene ID

26005

Uniprot ID

Q4AC94

Length

158,497 bases

No. of Exons

40

No. of isoforms

5

Protein Name

C2 Domain-Containing Protein 3

Molecular Mass

260389 Da

Amino Acid Count

2353

Genomic Location

chr11:74,012,577-74,171,209

Gene Map Locus
11q13.4

Description

This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001286577.1:c.1429delPalestinechr11:74118319PathogenicOrofaciodigital Syndrome XIVNG_041791.1:g.57701del; NM_001286577.1:c.1429del; NP_001273506.1:p.Lys476_Ile477insTer1406007301
NM_001286577.1:c.184C>TLebanonchr11:74168485PathogenicPathogenicOrofaciodigital Syndrome XIVNG_041791.1:g.7535C>T; NM_001286577.1:c.184C>T; NP_001273506.1:p.Arg62Ter587777653144038
NM_001286577.1:c.195G>CPalestineNC_000011.10:g.74168474C>GUncertain SignificancePathogenicOrofaciodigital Syndrome XIVNG_041791.1:g.7546G>C; NM_001286577.1:c.195G>C; NP_001273506.1:p.Trp65Cys1590991247800804
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