DNAAF11 (dynein axonemal assembly factor 11)

Gene

• Entrez ID: 23639
• Gene name: Dynein axonemal assembly factor 11
• Gene symbol: DNAAF11
• Synonyms (NCBI Gene): CILD19, LRRC6, LRTP, TSLRP, tilB
• Chromosome: 8
• Chromosome location: 8q24.22
• Summary: The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in mul

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs139131485	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs141945265	G>A,C	Likely-benign, pathogenic	Stop gained, coding sequence variant, missense variant, intron variant, non coding transcript variant
rs200321595	C>G	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs397514596	C>G	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs397515424	TT>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs397515425	->T	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs397515461	G>A	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, stop gained
rs750603177	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained, intron variant, non coding transcript variant
rs760123202	C>-	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant
rs763900107	A>-,AA	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant
rs769220870	AG>-	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, upstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1586586381	AT>-	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, frameshift variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003341	Process	Cilium movement	IEA
GO:0003341	Process	Cilium movement	IMP	23122589
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IEA
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	ISS
GO:0005515	Function	Protein binding	IPI	23891469, 23891471, 25036637, 29601588, 32296183, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	23122589, 23527195
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS	10775177
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005929	Component	Cilium	IDA	23122589
GO:0005929	Component	Cilium	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0008584	Process	Male gonad development	ISS	10775177
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	IMP	23122589
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031514	Component	Motile cilium	IEA
GO:0036158	Process	Outer dynein arm assembly	IBA
GO:0036158	Process	Outer dynein arm assembly	IEA
GO:0036158	Process	Outer dynein arm assembly	IEA
GO:0036158	Process	Outer dynein arm assembly	IMP	23122589
GO:0036158	Process	Outer dynein arm assembly	ISS
GO:0036159	Process	Inner dynein arm assembly	IMP	23122589
GO:0042995	Component	Cell projection	IEA
GO:0044458	Process	Motile cilium assembly	IMP	23122589
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051649	Process	Establishment of localization in cell	ISS
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	IEA
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	IEA
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	IMP	23122589
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	ISS
GO:0061458	Process	Reproductive system development	IEA
GO:0061458	Process	Reproductive system development	IMP	23122589
GO:0061512	Process	Protein localization to cilium	IEA
GO:0061512	Process	Protein localization to cilium	IEA
GO:0061512	Process	Protein localization to cilium	ISS
GO:0070286	Process	Axonemal dynein complex assembly	IMP	23527195
GO:0090651	Component	Apical cytoplasm	IEA
GO:0090660	Process	Cerebrospinal fluid circulation	IEA
GO:0090660	Process	Cerebrospinal fluid circulation	ISS
GO:0120229	Process	Protein localization to motile cilium	IMP	23527195
GO:0120293	Component	Dynein axonemal particle	IEA
GO:0120293	Component	Dynein axonemal particle	ISS

Other IDs

• MIM: 614930
• HGNC: 16725
• e!Ensembl: ENSG00000129295

Protein

• UniProt ID: Q86X45
• Protein name: Dynein axonemal assembly factor 11 (DNAAF11) (Leucine-rich repeat-containing protein 6) (Leucine-rich testis-specific protein) (Protein tilB homolog) (Testis-specific leucine-rich repeat protein)
• Protein function: Involved in dynein arm assembly, is important for expression and transporting outer dynein arm (ODA) proteins from the cytoplasm to the cilia (PubMed:23122589, PubMed:23527195, PubMed:33403504). Acts as a crucial component in the formation and m
• Tissue specificity: TISSUE SPECIFICITY: Expressed predominantly in testis and in nasal epithelial cells. {ECO:0000269|PubMed:23122589, ECO:0000269|PubMed:23527195, ECO:0000269|PubMed:33403504}.
• Sequence:

  MGWITEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIE
  NVSKLKKLEYLNLALNNIEKIENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFL
  MGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDYSVIEPQIREQEKDHCLKR
  AKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKL
  DNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPPRTLITEDGKALN
  VNEPKIDFSLKDNEKQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKP
  DSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSDRSREQTNTRSKHMEKLEVDP
  SKHSFPDVTNIVQEKKHTPRRRPEPKIIPSEEDPTFEDNPEVPPLI

• Sequence length: 466

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
DNAAF11-related disorder	Pathogenic; Likely pathogenic	rs760123202, rs1821460043	RCV004748646 RCV003397602	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heterotaxy	Likely pathogenic; Pathogenic	rs200321595	RCV001731475	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kartagener syndrome	Pathogenic	rs760123202	RCV000190917	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia	Pathogenic; Likely pathogenic	rs771548650, rs150975285, rs777779770, rs760123202, rs200321595, rs769220870, rs1586586381, rs979934112, rs1821475039	RCV002463318 RCV002461458 RCV002461521 RCV002460965 RCV002460894 RCV002461968 RCV002462172 RCV005912424 RCV001255258	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia 19	Pathogenic; Likely pathogenic	rs2130460427, rs2131015097, rs2130325496, rs150975285, rs2537813639, rs1391729028, rs2538396993, rs760123202, rs2538048423, rs1218098769, rs756029160, rs756153007, rs397515424, rs141945265, rs397515425, rs200321595, rs750603177, rs769220870, rs763900107, rs1586586381, rs767624733, rs397515461, rs979934112, rs1815572053, rs1170838072, rs1821475039	RCV001384272 RCV002052056 RCV002238529 RCV003653635 RCV003065482 RCV003058397 RCV003115882 RCV000056270 RCV003014861 RCV003649542 RCV003652428 RCV003839280 RCV003868011 RCV000033016 RCV000033017 RCV000033018 RCV000033020 RCV000650322 RCV000650325 RCV000650326 RCV000809959 RCV000808662 RCV000056271 RCV001035550 RCV001066754 RCV001224609 RCV002568746	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CILIARY DYSKINESIA, PRIMARY, 19	—	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
Infertility disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple sclerosis, susceptibility to	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Respiratory ciliopathies including non-CF bronchiectasis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SITUS AMBIGUUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	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	23122589		★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	CLINVAR_DG	23891469, 24307375		★☆☆☆☆ Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 19	Ciliary dyskinesia	CLINVAR_DG	23122589, 23527195, 23891469, 27637300		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 19	Ciliary dyskinesia	GENOMICS_ENGLAND_DG	23122589		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 19	Ciliary dyskinesia	UNIPROT_DG	23122589, 23891469, 25186273		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 19	Ciliary dyskinesia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	23122589, 23527195, 25186273, 29511670, 33403504, 33577779, 36515799, 39180133	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	CLINVAR_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	BEFREE	27353389		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	36515799	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	33403504, 36515799	Associate	★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	23122589, 23527195, 23891469		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kartagener Syndrome	Kartagener Syndrome	ORPHANET_DG	23122589		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	23122589		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	23122589, 23527195, 23891469, 23891471, 27353389, 29511670		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	ORPHANET_DG	23122589		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia	Ciliary dyskinesia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	GENOMICS_ENGLAND_DG			★★★★★ 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	Situs Inversus	BEFREE	23122589		★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs inversus	Pubtator	23122589	Associate	★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only