DNAAF19 (dynein axonemal assembly factor 19)

Gene

• Entrez ID: 388389
• Gene name: Dynein axonemal assembly factor 19
• Gene symbol: DNAAF19
• Synonyms (NCBI Gene): CCDC103, CILD17, PR46b, SMH
• Chromosome: 17
• Chromosome location: 17q21.31

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017285	hsa-miR-335-5p	Microarray	18185580
MIRT867312	hsa-miR-129-5p	CLIP-seq
MIRT867313	hsa-miR-2110	CLIP-seq
MIRT867314	hsa-miR-3126-5p	CLIP-seq
MIRT867315	hsa-miR-3147	CLIP-seq
MIRT867316	hsa-miR-3194-3p	CLIP-seq
MIRT867317	hsa-miR-3199	CLIP-seq
MIRT867318	hsa-miR-338-3p	CLIP-seq
MIRT867319	hsa-miR-4271	CLIP-seq
MIRT867320	hsa-miR-4310	CLIP-seq
MIRT867321	hsa-miR-4434	CLIP-seq
MIRT867322	hsa-miR-4515	CLIP-seq
MIRT867323	hsa-miR-4516	CLIP-seq
MIRT867324	hsa-miR-4531	CLIP-seq
MIRT867325	hsa-miR-4725-3p	CLIP-seq
MIRT867326	hsa-miR-4795-5p	CLIP-seq
MIRT867327	hsa-miR-491-5p	CLIP-seq
MIRT867328	hsa-miR-603	CLIP-seq
MIRT867329	hsa-miR-659	CLIP-seq
MIRT867330	hsa-miR-7	CLIP-seq
MIRT867313	hsa-miR-2110	CLIP-seq
MIRT867314	hsa-miR-3126-5p	CLIP-seq
MIRT1957435	hsa-miR-3136-5p	CLIP-seq
MIRT867317	hsa-miR-3199	CLIP-seq
MIRT1957436	hsa-miR-329	CLIP-seq
MIRT1957437	hsa-miR-362-3p	CLIP-seq
MIRT1957438	hsa-miR-3941	CLIP-seq
MIRT867319	hsa-miR-4271	CLIP-seq
MIRT1957439	hsa-miR-4419a	CLIP-seq
MIRT867321	hsa-miR-4434	CLIP-seq
MIRT1957440	hsa-miR-4439	CLIP-seq
MIRT1957441	hsa-miR-4510	CLIP-seq
MIRT867322	hsa-miR-4515	CLIP-seq
MIRT867323	hsa-miR-4516	CLIP-seq
MIRT867324	hsa-miR-4531	CLIP-seq
MIRT867325	hsa-miR-4725-3p	CLIP-seq
MIRT867326	hsa-miR-4795-5p	CLIP-seq
MIRT1957442	hsa-miR-490-5p	CLIP-seq
MIRT867327	hsa-miR-491-5p	CLIP-seq
MIRT867328	hsa-miR-603	CLIP-seq
MIRT867330	hsa-miR-7	CLIP-seq
MIRT1957443	hsa-miR-943	CLIP-seq
MIRT2194426	hsa-miR-1270	CLIP-seq
MIRT2194427	hsa-miR-4302	CLIP-seq
MIRT2194428	hsa-miR-4683	CLIP-seq
MIRT2194429	hsa-miR-620	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001947	Process	Heart looping	IMP	22581229
GO:0003341	Process	Cilium movement	IGI	22581229
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IBA
GO:0005515	Function	Protein binding	IPI	25416956, 29892012, 31515488, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS	22581229
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	ISS	22581229
GO:0007368	Process	Determination of left/right symmetry	IBA
GO:0030030	Process	Cell projection organization	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0036157	Component	Outer dynein arm	IEA
GO:0036158	Process	Outer dynein arm assembly	IGI	22581229
GO:0036159	Process	Inner dynein arm assembly	IBA
GO:0036159	Process	Inner dynein arm assembly	IGI	22581229
GO:0042803	Function	Protein homodimerization activity	IDA	22581229
GO:0042995	Component	Cell projection	IEA
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	IC	22581229
GO:0070286	Process	Axonemal dynein complex assembly	IEA
GO:0070286	Process	Axonemal dynein complex assembly	IMP	22581229
GO:0071907	Process	Determination of digestive tract left/right asymmetry	IMP	22581229

Other IDs

• MIM: 614677
• HGNC: 32700
• e!Ensembl: ENSG00000167131

Protein

• UniProt ID: Q8IW40
• Protein name: Dynein axonemal assembly factor 19 (Coiled-coil domain-containing protein 103)
• Protein function: Dynein-attachment factor required for cilia motility.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15867	Dynein_attach_N	7 → 74	Dynein attachment factor N-terminus	Family
  PF13877	RPAP3_C	98 → 188	Potential Monad-binding region of RPAP3	Domain

• Sequence:

  MERNDIINFKALEKELQAALTADEKYKRENAAKLRAVEQRVASYEEFRGIVLASHLKPLE
  RKDKMGGKRTVPWNCHTIQGRTFQDVATEISPEKAPLQPETSADFYRDWRRHLPSGPERY
  QALLQLGGPRLGCLFQTDVGFGLLGELLVALADHVGPADRAAVLGILCSLASTGRFTLNL
  SLLSRAERESCKGLFQKLQAMGNPRSVKEGLSWEEQGLEEQSGGLQEEERLLQELLELYQ
  VD

• Sequence length: 242

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
Absent inner and outer dynein arms	Likely pathogenic	rs746242380	RCV000768406	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CCDC103-related disorder	Likely pathogenic; Pathogenic	rs145457535	RCV003421933	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diarrhea 12, with microvillus atrophy	Pathogenic	rs147738533	RCV005860275	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 50	Likely pathogenic; Pathogenic	rs145457535	RCV006268088	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infertility disorder	Likely pathogenic; Pathogenic	rs145457535	RCV001327943	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia	Likely pathogenic; Pathogenic	rs747091524, rs759224168, rs746242380, rs147738533, rs1292757961, rs2508900110, rs1567763865, rs2508900227, rs1470852605, rs141004815, rs2508900598, rs1060503433, rs145457535, rs1597843267, rs2051550027	RCV001849595 RCV002000172 RCV002035262 RCV001984507 RCV002438021 RCV003537769 RCV003536414 RCV003538934 RCV003538000 RCV003535212 RCV003536726 RCV003648033 RCV003832444 RCV000467115 RCV000226016 RCV000539033 RCV000826099 RCV001065162	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia 17	Likely pathogenic; Pathogenic	rs747091524, rs759224168, rs746242380, rs1292757961, rs2508896569, rs587776910, rs145457535	RCV005014689 RCV005006311 RCV005006302 RCV005869838 RCV004526483 RCV000024375 RCV000024376 RCV005010486	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Respiratory ciliopathies including non-CF bronchiectasis	Likely pathogenic; Pathogenic	rs145457535	RCV004782022	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Situs inversus	Likely pathogenic	rs746242380	RCV000768406	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 17	—	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
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYNESIAN BRONCHIECTASIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SITUS INVERSUS TOTALIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely 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	Pubtator	35259782	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 rhinitis	Rhinitis	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	22581229		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 17	Ciliary dyskinesia	CLINVAR_DG	22581229, 24357714, 26123568, 27637300, 28790179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 17	Ciliary dyskinesia	UNIPROT_DG	22581229, 25186273		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 17	Ciliary dyskinesia	GENOMICS_ENGLAND_DG	28790179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 17	Ciliary dyskinesia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	CLINVAR_DG	22581229, 23891469, 24357714, 26123568, 27637300, 28790179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	25186273, 26123568, 28790179, 31273583, 31858719, 35259782, 37998386, 39180133	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
Emphysema	Emphysema	Pubtator	31419013	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	26123568		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	37108593	Associate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	35259782	Associate	★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann syndrome	Pubtator	37108593	Associate	★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	22581229, 31273583		★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	ORPHANET_DG	22581229		★☆☆☆☆ 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	22581229		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	22581229, 26123568, 31273583		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	ORPHANET_DG	22581229		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	GENOMICS_ENGLAND_DG	22581229		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia	Ciliary dyskinesia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rhinitis	Rhinitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs inversus	Pubtator	28790179	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Situs inversus totalis	Situs Inversus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs inversus totalis	Situs Inversus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Erosion	Skin Erosion	BEFREE	28977796		★☆☆☆☆ Found in Text Mining only