Outer Dynein Arm Docking Complex Subunit 2

Alternative Names

  • ODAD2
  • Armadillo Repeat-Containing Protein 4
  • ARMC4
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OMIM Number

615408

NCBI Gene ID

55130

Uniprot ID

Q5T2S8

Length

187,335 bases

No. of Exons

30

No. of isoforms

2

Protein Name

Outer dynein arm-docking complex subunit 2

Molecular Mass

115679 Da

Amino Acid Count

1044

Genomic Location

chr10:27,812,165-27,999,499

Gene Map Locus
10p12.1

Description

The protein encoded by this gene contains ten Armadillo repeat motifs (ARMs) and one HEAT repeat, and is thought to be involved in ciliary and flagellar movement. This protein has been shown to localize to the ciliary axonemes and at the ciliary base of respiratory cells. Studies indicate that mutations in this gene cause partial outer dynein arm (ODA) defects in respiratory cilia. The cilia of cells with mutations in this gene displayed either reduced ciliary beat frequency and amplitude, or, complete immotility. Some individuals with primary ciliary dyskensia (PCD) have been shown to have mutations in this gene. PCD is characterized by chronic airway disease and left/right body asymmetry defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_018076.5:c.1709G>AUnited Arab EmiratesNC_000010.11:g.27944256C>TLikely Benign, Uncertain SignificanceLikely BenignNG_042820.1:g.59795G>A; NM_018076.5:c.1709G>A; NP_060546.2:p.Arg570Gln140569195412251
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