Coiled-Coil Domain-Containing Protein 40

Alternative Names

CCDC40
KIAA1640

Length

63,972 bases

No. of Exons

No. of isoforms

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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United Arab Emirates

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_017950.4:c.1445G>A	United Arab Emirates	NC_000017.11:g.80065489G>A	Uncertain Significance	Uncertain Significance	Ciliary Dyskinesia, Primary, 15	NG_029761.1:g.33858G>A; NM_017950.4:c.1445G>A; NP_060420.2:p.Cys482Tyr	367601192	525408
NM_017950.4:c.1520A>T	United Arab Emirates	NC_000017.11:g.80065564A>T	Uncertain Significance	Uncertain Significance		NG_029761.1:g.33933A>T; NM_017950.4:c.1520A>T; NP_060420.2:p.Lys507Met	563467821	1306618
NM_017950.4:c.257A>G	United Arab Emirates	NC_000017.11:g.80039975A>G	Uncertain Significance	Likely Benign, Pathogenic	Ciliary Dyskinesia, Primary, 15	NG_029761.1:g.8344A>G; NM_017950.4:c.257A>G; NP_060420.2:p.Tyr86Cys	202220442	325722
NM_017950.4:c.62G>T	United Arab Emirates	NC_000017.11:g.80038155G>T		Pathogenic	Ciliary Dyskinesia, Primary, 15	NG_029761.1:g.6524G>T; NM_017950.4:c.62G>T; NP_060420.2:p.Gly21Val
NM_017950.4:c.697G>A	United Arab Emirates	NC_000017.11:g.80048603G>A	Uncertain Significance	Uncertain Significance	Ciliary Dyskinesia, Primary, 15	NG_029761.1:g.16972G>A; NM_017950.4:c.697G>A; NP_060420.2:p.Asp233Asn	201815496	583321
NM_017950.4:c.850G>C	United Arab Emirates	NC_000017.11:g.80048756G>C	Benign, Likely Benign, Uncertain Significance	Likely Pathogenic, Uncertain Significance	Ciliary Dyskinesia, Primary, 15	NG_029761.1:g.17125G>C; NM_017950.4:c.850G>C; NP_060420.2:p.Asp284His	201042940	260979

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=ccdc40

Contributors

Asha Deepthi: 30.08.2022
Pratibha Nair: 21.02.2022

Edit History

Asha Deepthi: 30.08.2022
Pratibha Nair: 21.02.2022

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