ODAD2 (outer dynein arm docking complex subunit 2)

Gene

• Entrez ID: 55130
• Gene name: Outer dynein arm docking complex subunit 2
• Gene symbol: ODAD2
• Synonyms (NCBI Gene): ARMC4, CILD23, gudu
• Chromosome: 10
• Chromosome location: 10p12.1
• Summary: The protein encoded by this gene contains ten Armadillo repeat motifs (ARMs) and one HEAT repeat, and is thought to be involved in ciliary and flagellar movement. This protein has been shown to localize to the ciliary axonemes and at the ciliary base of r

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs145742175	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained, intron variant
rs149368374	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, splice donor variant, missense variant
rs201213030	C>T	Pathogenic	Coding sequence variant, stop gained, downstream transcript variant, genic downstream transcript variant
rs587777047	A>C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs587777048	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs587777049	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs587777199	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs768447289	C>T	Pathogenic	Stop gained, intron variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs771920114	C>A	Pathogenic	Coding sequence variant, stop gained
rs868755574	G>A	Pathogenic	Stop gained, coding sequence variant
rs879253744	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs886041523	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1297261096	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1409069267	CA>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs1554822213	C>A	Likely-pathogenic	Intron variant, splice acceptor variant, genic upstream transcript variant
rs1564439559	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003341	Process	Cilium movement	IEA
GO:0003341	Process	Cilium movement	IEA
GO:0003341	Process	Cilium movement	IMP	23849778, 24203976
GO:0003356	Process	Regulation of cilium beat frequency	IMP	24203976
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IDA	23849778, 24203976
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007368	Process	Determination of left/right symmetry	IMP	23849778
GO:0007507	Process	Heart development	IEA
GO:0021591	Process	Ventricular system development	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0036158	Process	Outer dynein arm assembly	IEA
GO:0036158	Process	Outer dynein arm assembly	IEA
GO:0036158	Process	Outer dynein arm assembly	IMP	23849778, 24203976
GO:0042995	Component	Cell projection	IEA
GO:0097546	Component	Ciliary base	IDA	23849778

Other IDs

• MIM: 615408
• HGNC: 25583
• e!Ensembl: ENSG00000169126

Protein

• UniProt ID: Q5T2S8
• Protein name: Outer dynein arm-docking complex subunit 2 (Armadillo repeat-containing protein 4)
• Protein function: Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule (PubMed:27486780). Involved in mediating assembly of both ODAs and their axonemal docking complex onto ciliary
• PDB: 8J07
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00514	Arm	620 → 661	Armadillo/beta-catenin-like repeat	Repeat
  PF00514	Arm	993 → 1033	Armadillo/beta-catenin-like repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Expressed in respiratory epithelial cells (at protein level). {ECO:0000269|PubMed:23849778}.
• Sequence:

  MGVALRKLTQWTAAGHGTGILEITPLNEAILKEIIVFVESFIYKHPQEAKFVFVEPLEWN
  TSLAPSAFESGYVVSETTVKSEEVDKNGQPLLFLSVPQIKIRSFGQLSRLLLIAKTGKLK
  EAQACVEANRDPIVKILGSDYNTMKENSIALNILGKITRDDDPESEIKMKIAMLLKQLDL
  HLLNHSLKHISLEISLSPMTVKKDIELLKRFSGKGNQTVLESIEYTSDYEFSNGCRAPPW
  RQIRGEICYVLVKPHDGETLCITCSAGGVFLNGGKTDDEGDVNYERKGSIYKNLVTFLRE
  KSPKFSENMSKLGISFSEDQQKEKDQLGKAPKKEEAAALRKDISGSDKRSLEKNQINFWR
  NQMTKRWEPSLNWKTTVNYKGKGSAKEIQEDKHTGKLEKPRPSVSHGRAQLLRKSAEKIE
  ETVSDSSSESEEDEEPPDHRQEASADLPSEYWQIQKLVKYLKGGNQTATVIALCSMRDFS
  LAQETCQLAIRDVGGLEVLINLLETDEVKCKIGSLKILKEISHNPQIRQNIVDLGGLPIM
  VNILDSPHKSLKCLAAETIANVAKFKRARRVVRQHGGITKLVALLDCAHDSTKPAQSSLY
  EARDVEVARCGALALWSCSKSHTNKEAIRKAGGIPLLARLLKTSHENMLIPVVGTLQECA
  SEENYRAAIKAERIIENLVKNLNSENEQLQEHCAMAIYQCAEDKETRDLVRLHGGLKPLA
  SLLNNTDNKERLAAVTGAIWKCSISKENVTKFREYKAIETLVGLLTDQPEEVLVNVVGAL
  GECCQERENRVIVRKCGGIQPLVNLLVGINQALLVNVTKAVGACAVEPESMMIIDRLDGV
  RLLWSLLKNPHPDVKASAAWALCPCIKNAKDAGEMVRSFVGGLELIVNLLKSDNKEVLAS
  VCAAITNIAKDQENLAVITDHGVVPLLSKLANTNNNKLRHHLAEAISRCCMWGRNRVAFG
  EHKAVAPLVRYLKSNDTNVHRATAQALYQLSEDADNCITMHENGAVKLLLDMVGSPDQDL
  QEAAAGCISNIRRLALATEKARYT

• Sequence length: 1044

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
Kartagener syndrome	Likely pathogenic; Pathogenic	rs587777047	RCV000190922	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male infertility	Likely pathogenic; Pathogenic	rs1564439559, rs149368374	RCV001003514 RCV001003515	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ODAD2-related disorder	Pathogenic	rs369669370	RCV003892749	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia	Pathogenic; Likely pathogenic	rs587777199, rs1175750984, rs879253744, rs780697353, rs1277709050, rs149368374, rs1564439559	RCV005887810 RCV002463320 RCV000608160 RCV003777340 RCV004524245 RCV002462174 RCV001003514 RCV001003515	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia 23	Pathogenic; Likely pathogenic	rs587777199, rs149274011, rs2133342065, rs1564526396, rs752348839, rs771640361, rs774979481, rs988722926, rs145742175, rs1237311934, rs764402372, rs1849710760, rs753602333, rs2494438272, rs879253744, rs201213030, rs771920114, rs868755574, rs769346541, rs759966765, rs747965765, rs2494378551, rs1839989630, rs1229705288, rs2494378840, rs768002030, rs1436932284, rs2493662614, rs1409069267, rs1554822213, rs1297261096, rs768447289, rs369669370, rs1588663203, rs149368374, rs587777047, rs587777048, rs587777049	RCV000087327 RCV001784794 RCV005396371 RCV002052193 RCV002238983 RCV003058379 RCV002612602 RCV002712130 RCV000234898 RCV002811954 RCV002846190 RCV002942834 RCV002999638 RCV003064120 RCV000234915 RCV000234856 RCV000234877 RCV000234900 RCV001782772 RCV003582489 RCV003581446 RCV003741394 RCV003741579 RCV003741594 RCV003741891 RCV003850966 RCV003842570 RCV003989229 RCV000531673 RCV000651794 RCV000699778 RCV000692492 RCV000816238 RCV000809647 RCV000811028 RCV000056284 RCV000056285 RCV000056286 RCV005093035	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 23	—	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	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DETACHMENT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	35637434	Associate	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26474971	Inhibit	★☆☆☆☆ 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
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37833735	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ 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	23849778		★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	CLINVAR_DG	23849778		★☆☆☆☆ Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 23	Ciliary Dyskinesia	UNIPROT_DG	23849778, 25186273		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 23	Ciliary Dyskinesia	CLINVAR_DG	23849778, 24203976		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 23	Ciliary Dyskinesia	GENOMICS_ENGLAND_DG	23849778, 24203976		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 23	Ciliary Dyskinesia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	CLINVAR_DG	23849778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	24203976, 25186273, 28801648, 29402277, 33577779, 35637434	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35269880	Associate	★☆☆☆☆ 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
Intellectual Disability	Mental retardation	BEFREE	22258158		★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	23849778, 24203976		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kartagener Syndrome	Kartagener Syndrome	ORPHANET_DG	23849778		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung Diseases, Obstructive	Lung Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	22258158		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	33790390	Associate	★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polynesian Bronchiectasis	Kartagener syndrome	ORPHANET_DG	23849778		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	23849778, 24203976		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	ORPHANET_DG	23849778		★★★★★ 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
Sarcoma	Sarcoma	Pubtator	34294833	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	BEFREE	24203976		★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs inversus	Pubtator	24203976	Associate	★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26330360	Associate	★☆☆☆☆ Found in Text Mining only