Coiled-Coil Domain-Containing Protein 40

Alternative Names

  • CCDC40
  • KIAA1640
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OMIM Number

613799

NCBI Gene ID

55036

Uniprot ID

Q4G0X9

Length

63,972 bases

No. of Exons

22

No. of isoforms

5

Protein Name

Coiled-coil domain-containing protein 40

Molecular Mass

130113 Da

Amino Acid Count

1142

Genomic Location

chr17:80,036,641-80,100,612

Gene Map Locus
17q25.3

Description

This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_017950.4:c.1445G>AUnited Arab EmiratesNC_000017.11:g.80065489G>AUncertain SignificanceUncertain SignificanceCiliary Dyskinesia, Primary, 15NG_029761.1:g.33858G>A; NM_017950.4:c.1445G>A; NP_060420.2:p.Cys482Tyr367601192525408
NM_017950.4:c.1520A>TUnited Arab EmiratesNC_000017.11:g.80065564A>TUncertain SignificanceUncertain SignificanceNG_029761.1:g.33933A>T; NM_017950.4:c.1520A>T; NP_060420.2:p.Lys507Met5634678211306618
NM_017950.4:c.257A>GUnited Arab EmiratesNC_000017.11:g.80039975A>GUncertain SignificanceLikely Benign, PathogenicCiliary Dyskinesia, Primary, 15NG_029761.1:g.8344A>G; NM_017950.4:c.257A>G; NP_060420.2:p.Tyr86Cys202220442325722
NM_017950.4:c.62G>TUnited Arab EmiratesNC_000017.11:g.80038155G>TPathogenicCiliary Dyskinesia, Primary, 15NG_029761.1:g.6524G>T; NM_017950.4:c.62G>T; NP_060420.2:p.Gly21Val
NM_017950.4:c.697G>AUnited Arab EmiratesNC_000017.11:g.80048603G>AUncertain SignificanceUncertain SignificanceCiliary Dyskinesia, Primary, 15NG_029761.1:g.16972G>A; NM_017950.4:c.697G>A; NP_060420.2:p.Asp233Asn201815496583321
NM_017950.4:c.850G>CUnited Arab EmiratesNC_000017.11:g.80048756G>CBenign, Likely Benign, Uncertain SignificanceLikely Pathogenic, Uncertain SignificanceCiliary Dyskinesia, Primary, 15NG_029761.1:g.17125G>C; NM_017950.4:c.850G>C; NP_060420.2:p.Asp284His201042940260979
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