DNAAF6 (dynein axonemal assembly factor 6)

Gene

• Entrez ID: 139212
• Gene name: Dynein axonemal assembly factor 6
• Gene symbol: DNAAF6
• Synonyms (NCBI Gene): CILD36, CXorf41, NYSAR97, PIH1D3, TWISTER
• Chromosome: X
• Chromosome location: Xq22.3

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1057519568	GGTGGGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057519569	C>T	Pathogenic	Coding sequence variant, stop gained

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003341	Process	Cilium movement	IMP	28041644, 28176794
GO:0005515	Function	Protein binding	IPI	25416956, 28041644, 28176794, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	28176794
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IDA	28176794
GO:0030317	Process	Flagellated sperm motility	IBA
GO:0030317	Process	Flagellated sperm motility	IMP	28041644
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0036158	Process	Outer dynein arm assembly	IMP	28176794
GO:0036159	Process	Inner dynein arm assembly	IMP	28176794
GO:0045505	Function	Dynein intermediate chain binding	IBA
GO:0045505	Function	Dynein intermediate chain binding	IMP	28176794
GO:0051087	Function	Protein-folding chaperone binding	IEA
GO:0051087	Function	Protein-folding chaperone binding	ISS
GO:0070286	Process	Axonemal dynein complex assembly	IBA
GO:0070286	Process	Axonemal dynein complex assembly	IEA
GO:0070286	Process	Axonemal dynein complex assembly	IMP	28041644
GO:0070286	Process	Axonemal dynein complex assembly	ISS

Other IDs

• MIM: 300933
• HGNC: 28570
• e!Ensembl: ENSG00000080572

Protein

• UniProt ID: Q9NQM4
• Protein name: Dynein axonemal assembly factor 6 (PIH1 domain-containing protein 3) (Sarcoma antigen NY-SAR-97)
• Protein function: Plays a role in cytoplasmic pre-assembly of axonemal dynein.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18201	PIH1_CS	108 → 205	PIH1 CS-like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in testis, small intestine, prostate, adrenal gland, spleen, lung, bladder, breast and ovary. Expressed in ciliated epithelial cells (PubMed:28176794). {ECO:0000269|PubMed:12601173, ECO:0000269|PubMed:28176794}.
• Sequence:

  MESENMDSENMKTENMESQNVDFESVSSVTALEALSKLLNPEEEDDSDYGQTNGLSTIGA
  MGPGNIGPPQIEELKVIPETSEENNEDIWNSEEIPEGAEYDDMWDVREIPEYEIIFRQQV
  GTEDIFLGLSKKDSSTGCCSELVAKIKLPNTNPSDIQIDIQETILDLRTPQKKLLITLPE
  LVECTSAKAFYIPETETLEITMTMKRELDIANFF

• Sequence length: 214

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
Ciliary dyskinesia, primary, 36, X-linked	Likely pathogenic; Pathogenic	rs2522808756, rs1057519568, rs1057519569, rs1928059485	RCV002283880 RCV000417064 RCV000417045 RCV001089643	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia	Likely pathogenic	rs2147829163	RCV001849599	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2522795828	RCV005931566	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CILIARY MOTILITY DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DNAAF6-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	28041644	Associate	★☆☆☆☆ Found in Text Mining only
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	28041644		★☆☆☆☆ Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED	Ciliary Dyskinesia, X-Linked	GENOMICS_ENGLAND_DG	28041644		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED	Ciliary Dyskinesia, X-Linked	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED	Ciliary Dyskinesia, X-Linked	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	28041644, 32170493	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34145793	Stimulate	★☆☆☆☆ Found in Text Mining only
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
Infertility Male	Male infertility	Pubtator	32170493	Associate	★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	28041644, 28176794		★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	ORPHANET_DG	28041644		★☆☆☆☆ 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	28041644		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	28041644, 28176794, 29363216		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	ORPHANET_DG	28041644		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia	Ciliary dyskinesia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Recurrent sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	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