• Gene id: 54919

Gene Summary

• Gene Symbol: DNAAF5   Gene   UCSC   Ensembl
• Aliases: CILD18, HEATR2
• Gene name: dynein axonemal assembly factor 5
• Alternate names: dynein assembly factor 5, axonemal, HEAT repeat containing 2, HEAT repeat-containing protein 2,
• Gene location: 7p22.3 (726691: 786477)     Exons: 14     NC_000007.14
• Gene summary(Entrez): The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder cha

SNPs

rs397514561

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

NC_000007.14   g.780097T>C
NC_000007.13   g.819734T>C
NG_033137.1   g.58397T>C
NM_017802.4   c.2384T>C
NM_017802.3   c.2384T>C
NR_075098.1   n.2342T>C
XM_024446814.1   c.1778T>C
NP_060272.3   p.Leu795Pro
XP_024302582.1   p.Leu593Pro|SEQ=[T/C]|GENE=DNAAF5

Protein Summary

• Protein general information: Q86Y56  
  • Name: Dynein assembly factor 5, axonemal (HEAT repeat containing protein 2)
  • Length: 855  
  • Mass: 93521
  • Tissue specificity: Expressed in nasal epithelium and lung epithelium by ciliated cells (at protein level). {ECO
• Sequence:

  MAALGVAEAVAAPHPAEGAETAEAVELSRALSRLLPGLEADSKPGRRRALEALRRALEEPGPAADPTAFQGPWAR
  LLLPRLLRCLSDPAEGCRALAVHLLDLGLRRAARPRDALPRLLPALAARLAGPVPARRPPEACEELRLALVQLLG
  LAVDLCGAALAPHLDDALRALRCSLLDPFAAVRRESCSCAAALAQATPDHFHMQSESLIGPLMQTISHQHWKVRV
  AAIEATGAVIHFGNGKSVDDVLSHFAQRLFDDVPQVRRAVASVVGGWLLCLRDRYSFFHKLIPLLLSSLNDEVPE
  VRQLAASLWEDVGLQWQKENEEDLKDKLDFAPPTPPHYPPHERRPVLGCRELVFRNLSKILPALCHDITDWVVGT
  RVKSAQLLPVLLLHAEDHATQHLEVVLRTLFQACTDEEAAVVQSCTRSAELVGTFVSPEVFLKLILSTLKKTPSA
  SGLLVLASAMRGCPREALQPHLAAIATELAQAHICQASENDLYLERLLLCVQALVSVCHEDCGVASLQLLDVLLT
  IVALAGATGLRDKAQETMDSLAMVEGVSSCQDLYRKHIGPLLERVTASHLDWTAHSPELLQFSVIVAQSGPALGE
  ALPHVVPTLRACLQPSQDPQMRLKLFSILSTVLLRATDTINSQGQFPSYLETVTKDILAPNLQWHAGRTAAAIRT
  AAVSCLWALTSSEVLSAEQIRDVQETLMPQVLTTLEEDSKMTRLISCRIINTFLKTSGGMTDPEKLIRIYPELLK
  RLDDVSNDVRMAAASTLVTWLQCVKGANAKSYYQSSVQYLYRELLVHLDDPERAIQDAILEVLKEGSGLFPDLLV
  RETEAVIHKHRSATYCEQLLQHVQAVPATQ

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR021133  IPR034085  
  • Prosite: PS50077
  • STRING: ENSP00000297440
• Other Databases: GeneCards:  DNAAF5  Malacards:  DNAAF5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036158	outer dynein arm assembly	IBA	biological process
GO:0036159	inner dynein arm assembly	IBA	biological process
GO:0045505	dynein intermediate chain binding	IBA	molecular function
GO:0003341	cilium movement	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0031514	motile cilium	IDA	NOT|cellular component
GO:0031514	motile cilium	IDA	NOT|cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0045505	dynein intermediate chain binding	IPI	molecular function
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036159	inner dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0003341	cilium movement	IMP	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
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
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq