• Gene id: 352909

Gene Summary

• Gene Symbol: DNAAF3   Gene   UCSC   Ensembl
• Aliases: C19orf51, CILD2, DAB1, PCD, PF22
• Gene name: dynein axonemal assembly factor 3
• Alternate names: dynein assembly factor 3, axonemal, UPF0470 protein C19orf51,
• Gene location: 19q13.42 (43967005: 43998325)     Exons: 7     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2).
• OMIM: 614566

SNPs

rs397515395

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000019.10   g.55161685dup
NC_000019.9   g.55673053dup
NG_007866.2   g.1048dup
NG_032759.1   g.10038dup
NM_178837.4   c.762dup
NM_001256715.2   c.621dup
NM_001256715.1   c.621dup
NM_001256716.1   c.459dup
NM_001256714.1   c.825dup
NP_849159.2   p.Val255fs
NP_001243644  

rs387907152

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.55165427G>A
NC_000019.9   g.55676795G>A
NG_032759.1   g.6296C>T
NM_178837.4   c.406C>T
NM_001256715.2   c.265C>T
NM_001256715.1   c.265C>T
NM_001256716.1   c.103C>T
NM_001256714.1   c.469C>T
NP_849159.2   p.Arg136Ter
NP_001243644.1   p.Arg89Ter
NP_00124  

rs387907151

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.55165904A>G
NC_000019.9   g.55677272A>G
NG_032759.1   g.5819T>C
NM_178837.4   c.323T>C
NM_001256715.2   c.182T>C
NM_001256715.1   c.182T>C
NM_001256716.1   c.-57T>C
NM_001256714.1   c.386T>C
NP_849159.2   p.Leu108Pro
NP_001243644.1   p.Leu61Pro
NP_00124  

Protein Summary

• Protein general information: Q8N9W5  
  • Name: Dynein assembly factor 3, axonemal
  • Length: 541  
  • Mass: 59410
• Sequence:

  MTTPAGSGSGFGSVSWWGLSPALDLQAESPPVDPDSQADTVHSNPELDVLLLGSVDGRHLLRTLSRAKFWPRRRF
  NFFVLENNLEAVARHMLIFSLALEEPEKMGLQERSETFLEVWGNALLRPPVAAFVRAQADLLAHLVPEPDRLEEQ
  LPWLSLRALKFRERDALEAVFRFWAGGEKGPQAFPMSRLWDSRLRHYLGSRYDARRGVSDWDLRMKLHDRGAQVI
  HPQEFRRWRDTGVAFELRDSSAYHVPNRTLASGRLLSYRGERVAARGYWGDIATGPFVAFGIEADDESLLRTSNG
  QPVKTAGEITQHNVTELLRDVAAWGRARATGGDLEEQQHAEGSPEPGTPAAPTPESFTVHFLPLNSAQTLHHKSC
  YNGRFQLLYVACGMVHLLIPELGACVAPGGNLIVELARYLVDVRQEQLQGFNTRVRELAQAAGFAPQTGARPSET
  FARFCKSQESALGNTVPAVEPGTPPLDILAQPLEASNPALEGLTQPLQGGTPHCEPCQLPSESPGSLSEVLAQPQ
  GALAPPNCESDSKTGV

• Structural information:
  • Interpro: IPR039304  IPR028235  IPR027974  
  • STRING: ENSP00000436975
• Other Databases: GeneCards:  DNAAF3  Malacards:  DNAAF3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070286	axonemal dynein complex assembly	IMP	biological process
GO:0044458	motile cilium assembly	IMP	biological process
GO:0070286	axonemal dynein complex assembly	IEA	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Primary ciliary dyskinesia	KEGG:H00564
Primary ciliary dyskinesia	KEGG:H00564
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881