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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
DNAAF5-related disorder	Likely pathogenic; Pathogenic	rs2484204512	RCV003410513	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 18	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ATRESIA OF NASOPHARYNX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthenozoospermia	Asthenozoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	ORPHANET_DG	23040496		★☆☆☆☆ Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 18	Ciliary dyskinesia	GENOMICS_ENGLAND_DG	23040496, 29363216		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 18	Ciliary dyskinesia	UNIPROT_DG	23040496, 25232951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 18	Ciliary dyskinesia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 18	Ciliary dyskinesia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	CLINVAR_DG	23040496, 24307375, 25232951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	23040496, 33577779	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	23040496		★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	ORPHANET_DG	23040496		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polynesian Bronchiectasis	Kartagener syndrome	ORPHANET_DG	23040496		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	23040496, 25232951		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	ORPHANET_DG	23040496		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia	Ciliary dyskinesia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only