Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID	115948
Gene name	Outer dynein arm docking complex subunit 3
Gene symbol	ODAD3
Synonyms (NCBI Gene)	CCDC151CILD30ODA10
Chromosome	19
Chromosome location	19p13.2
Summary	This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777779	C>A,G,T	Pathogenic	Stop gained, coding sequence variant, intron variant, missense variant
rs587777780	G>A,T	Pathogenic	Downstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant, stop gained
rs746849797	C>G	Likely-pathogenic	Splice acceptor variant
rs750658321	->GTCTGTTTTGCGC	Pathogenic	Frameshift variant, coding sequence variant
rs1186608353	C>G,T	Likely-pathogenic	Splice acceptor variant, intron variant
rs1277185772	G>A	Pathogenic	Stop gained, coding sequence variant
rs1480671731	C>T	Likely-pathogenic	Splice acceptor variant
rs1555721837	G>A	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1555723797	->A	Pathogenic	Coding sequence variant, stop gained

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0003341	Process	Cilium movement	IBA
GO:0003341	Process	Cilium movement	IEA
GO:0003341	Process	Cilium movement	IMP	25192045
GO:0003341	Process	Cilium movement	ISS
GO:0005515	Function	Protein binding	IPI	23455924, 25192045, 25416956, 27486780, 32296183, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005814	Component	Centriole	IEA
GO:0005814	Component	Centriole	ISS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0005930	Component	Axoneme	IDA	25192045
GO:0007283	Process	Spermatogenesis	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007368	Process	Determination of left/right symmetry	IMP	25192045
GO:0007420	Process	Brain development	IEA
GO:0007507	Process	Heart development	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0035253	Component	Ciliary rootlet	IBA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IEA
GO:0036064	Component	Ciliary basal body	ISS
GO:0036126	Component	Sperm flagellum	IEA
GO:0036158	Process	Outer dynein arm assembly	IBA
GO:0036158	Process	Outer dynein arm assembly	IDA	25192045
GO:0036158	Process	Outer dynein arm assembly	IEA
GO:0042995	Component	Cell projection	IEA
GO:0044782	Process	Cilium organization	IEA
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	IEA
GO:0061371	Process	Determination of heart left/right asymmetry	IEA
GO:0072520	Process	Seminiferous tubule development	IEA
GO:0090660	Process	Cerebrospinal fluid circulation	IEA
GO:0097542	Component	Ciliary tip	IBA
GO:0120228	Component	Outer dynein arm docking complex	ISS
GO:1902017	Process	Regulation of cilium assembly	IEA
GO:1902017	Process	Regulation of cilium assembly	ISS

MIM	HGNC	e!Ensembl
615956	28303	ENSG00000198003

A5D8V7

Protein name

Outer dynein arm-docking complex subunit 3 (Coiled-coil domain-containing protein 151)

Protein function

Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule (PubMed:25192045). Involved in mediating assembly of both ODAs and their axonemal docking complex onto ciliary

PDB

8J07

Family and domains

Sequence

MTSPLCRAASANALPPQDQASTPSSRVKGREASGKPSHLRGKGTAQAWTPGRSKGGSFHR
GAGKPSVHSQVAELHKKIQLLEGDRKAFFESSQWNIKKNQETISQLRKETKALELKLLDL
LKGDEKVVQAVIREWKWEKPYLKNRTGQALEHLDHRLREKVKQQNALRHQVVLRQRRLEE
LQLQHSLRLLEMAEAQNRHTEVAKTMRNLENRLEKAQMKAQEAEHITSVYLQLKAYLMDE
SLNLENRLDSMEAEVVRTKHELEALHVVNQEALNARDIAKNQLQYLEETLVRERKKRERY
ISECKKRAEEKKLENERMERKTHREHLLLQSDDTIQDSLHAKEEELRQRWSMYQMEVIFG
KVKDATGTDETHSLVRRFLAQGDTFAQLETLKSENEQTLVRLKQEKQQLQRELEDLKYSG
EATLVSQQKLQAEAQERLKKEERRHAEAKDQLERALRAMQVAKDSLEHLASKLIHITVED
GRFAGKELDPQADNYVPNLLGLVEEKLLKLQAQLQGHDVQEMLCHIANREFLASLEGRLP
EYNTRIALPLATSKDKFFDEESEEEDNEVVTRASLKIRSQKLIESHKKHRRSRRS

Sequence length

595

Interactions

View interactions

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)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Kartagener syndrome	Pathogenic	rs587777780, rs1969172237	RCV000190933 RCV001290436	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ODAD3-related disorder	Likely pathogenic	rs2512473911	RCV003405895	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia	Likely pathogenic	rs1969627663	RCV001255308	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia 30	Pathogenic; Likely pathogenic	rs1368294758, rs2144780130, rs587777780, rs2144772827, rs761781827, rs1186608353, rs2512487710, rs761992279, rs2512482280, rs1437321108, rs2512494505, rs2512483025, rs759213872, rs1308843878, rs2512482311 View all (11 more)	RCV001594433 RCV001780730 RCV000144450 RCV002237702 RCV003052896 View all (23 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 30	—	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

Show/Hide Text Mining Associations (37)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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	CLINVAR_DG	25192045, 25224326		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	ORPHANET_DG	25192045		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 30	Ciliary dyskinesia	GENOMICS_ENGLAND_DG	25192045, 25224326		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 30	Ciliary dyskinesia	CLINVAR_DG	25192045		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 30	Ciliary dyskinesia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	25224326	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 Heart Defects	Congenital heart defects	BEFREE	25192045		★★★★★ ★☆☆☆☆ 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
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	12627427, 14656747, 24577564, 25192045, 25224326, 8071978, 9298603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	31383820		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	25192045, 25224326, 30504913, 31178588		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kartagener Syndrome	Kartagener Syndrome	ORPHANET_DG	25192045		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung Diseases, Obstructive	Lung Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30175534		★★★★★ ★☆☆☆☆ 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	25192045		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	25192045, 25224326, 30504913, 31178588		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	ORPHANET_DG	25192045		★★★★★ ★★★★☆ 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
Rhinitis	Rhinitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	BEFREE	30504913, 31178588		★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30175534		★★★★★ ★☆☆☆☆ Found in Text Mining only

ODAD3 (outer dynein arm docking complex subunit 3)