DNAAF5 (dynein axonemal assembly factor 5)

Gene

• Entrez ID: 54919
• Gene name: Dynein axonemal assembly factor 5
• Gene symbol: DNAAF5
• Synonyms (NCBI Gene): CILD18, HEATR2
• Chromosome: 7
• Chromosome location: 7p22.3
• Summary: 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

SNP ID	Visualize variation	Clinical significance	Consequence
rs61755909	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs201507046	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs397514561	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs765025514	G>A,T	Pathogenic	Splice acceptor variant
rs767713588	G>A,T	Likely-pathogenic	Splice donor variant
rs878855036	AG>-	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs950490534	C>G	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1489856215	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554255966	TGCCCCA>CCACCCTGGGT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1583517442	GGCCATCCGCACGGCT>ATGGCC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003341	Process	Cilium movement	IBA
GO:0003341	Process	Cilium movement	IMP	23040496
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	23040496, 25232951
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0030030	Process	Cell projection organization	IEA
GO:0031514	Component	Motile cilium	IDA	23040496, 25232951
GO:0036158	Process	Outer dynein arm assembly	IBA
GO:0036158	Process	Outer dynein arm assembly	IMP	23040496, 25232951
GO:0036159	Process	Inner dynein arm assembly	IBA
GO:0036159	Process	Inner dynein arm assembly	IMP	25232951
GO:0045505	Function	Dynein intermediate chain binding	IBA
GO:0045505	Function	Dynein intermediate chain binding	IPI	25232951
GO:0072686	Component	Mitotic spindle	IDA
GO:0120293	Component	Dynein axonemal particle	IEA
GO:0120293	Component	Dynein axonemal particle	ISS

Other IDs

• MIM: 614864
• HGNC: 26013
• e!Ensembl: ENSG00000164818

Protein

• UniProt ID: Q86Y56
• Protein name: Dynein axonemal assembly factor 5 (HEAT repeat-containing protein 2)
• Protein function: Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the
• Tissue specificity: TISSUE SPECIFICITY: Expressed in nasal epithelium and lung epithelium by ciliated cells (at protein level). {ECO:0000269|PubMed:23040496}.
• Sequence:

  MAALGVAEAVAAPHPAEGAETAEAVELSRALSRLLPGLEADSKPGRRRALEALRRALEEP
  GPAADPTAFQGPWARLLLPRLLRCLSDPAEGCRALAVHLLDLGLRRAARPRDALPRLLPA
  LAARLAGPVPARRPPEACEELRLALVQLLGLAVDLCGAALAPHLDDALRALRCSLLDPFA
  AVRRESCSCAAALAQATPDHFHMQSESLIGPLMQTISHQHWKVRVAAIEATGAVIHFGNG
  KSVDDVLSHFAQRLFDDVPQVRRAVASVVGGWLLCLRDRYSFFHKLIPLLLSSLNDEVPE
  VRQLAASLWEDVGLQWQKENEEDLKDKLDFAPPTPPHYPPHERRPVLGCRELVFRNLSKI
  LPALCHDITDWVVGTRVKSAQLLPVLLLHAEDHATQHLEVVLRTLFQACTDEEAAVVQSC
  TRSAELVGTFVSPEVFLKLILSTLKKTPSASGLLVLASAMRGCPREALQPHLAAIATELA
  QAHICQASENDLYLERLLLCVQALVSVCHEDCGVASLQLLDVLLTIVALAGATGLRDKAQ
  ETMDSLAMVEGVSSCQDLYRKHIGPLLERVTASHLDWTAHSPELLQFSVIVAQSGPALGE
  ALPHVVPTLRACLQPSQDPQMRLKLFSILSTVLLRATDTINSQGQFPSYLETVTKDILAP
  NLQWHAGRTAAAIRTAAVSCLWALTSSEVLSAEQIRDVQETLMPQVLTTLEEDSKMTRLI
  SCRIINTFLKTSGGMTDPEKLIRIYPELLKRLDDVSNDVRMAAASTLVTWLQCVKGANAK
  SYYQSSVQYLYRELLVHLDDPERAIQDAILEVLKEGSGLFPDLLVRETEAVIHKHRSATY
  CEQLLQHVQAVPATQ

• Sequence length: 855

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
DNAAF5-related disorder	Likely pathogenic; Pathogenic	rs2484204512	RCV003410513
Primary ciliary dyskinesia	Pathogenic; Likely pathogenic	rs1376820756, rs1307353210, rs1216182303, rs1782745000, rs756233808, rs371542660, rs1778714650, rs1781507295, rs2484056741, rs2484059424, rs915848808, rs1782497993, rs1215481060, rs2484006186, rs878855036, rs767460655, rs2484024185, rs1781335411, rs2484101705, rs2484023860, rs1781905532, rs912460897, rs144405450, rs765025514, rs147811057, rs1554248794, rs1554248887, rs950490534, rs1554255966, rs397514561, rs767713588, rs1489856215, rs201507046, rs1583517442, rs746849639, rs1781327256	RCV001947360 RCV001946121 RCV001939559 RCV002037937 RCV001944058 RCV002026949 RCV002432493 RCV002597713 RCV002650380 RCV002705979 RCV002691106 RCV002835363 RCV002904457 RCV003021520 RCV000226207 RCV003537850 RCV003539115 RCV003647513 RCV003652507 RCV003653705 RCV003651802 RCV003652996 RCV000463290 RCV000538800 RCV000555677 RCV000560170 RCV000533926 RCV000546359 RCV000557270 RCV000629303 RCV000694858 RCV000806857 RCV000821491 RCV000804188 RCV001046529 RCV001210977
Primary ciliary dyskinesia 18	Likely pathogenic; Pathogenic	rs1781507295, rs2484204512, rs1781907458, rs144405450, rs1554255966, rs397514561, rs767713588, rs1489856215, rs1217845018	RCV005356155 RCV004813228 RCV004577262 RCV000764723 RCV002497044 RCV000032886 RCV003453459 RCV002478871 RCV000850276

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign	rs9458	RCV005924796
Cholangiocarcinoma	Benign	rs62432250	RCV005923790
Congenital heart disease	Conflicting classifications of pathogenicity	rs878855039	RCV005625471
Gastric cancer	Benign; Likely benign	rs62432250, rs559335413	RCV005923788 RCV005936606
Malignant tumor of esophagus	Likely benign	rs185920353	RCV005917645
Nonpapillary renal cell carcinoma	Likely benign	rs185920353	RCV005917646
Schizophrenia	Uncertain significance	rs2484203485	RCV002463490
Thymoma	Benign	rs9458	RCV005924798
Uterine carcinosarcoma	Benign	rs9458, rs62432250	RCV005924797 RCV005923789

Associations from Text Mining
Disease Name	Relationship Type	References
Ciliary Motility Disorders	Associate	23040496, 33577779