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	55130
Gene name	Outer dynein arm docking complex subunit 2
Gene symbol	ODAD2
Synonyms (NCBI Gene)	ARMC4CILD23gudu
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

Show/Hide all (16)

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

Show/Hide all (20)

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

MIM	HGNC	e!Ensembl
615408	25583	ENSG00000169126

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

Interactions

View interactions

742

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Kartagener syndrome	Likely pathogenic; Pathogenic	rs587777047	RCV000190922
Male infertility	Likely pathogenic; Pathogenic	rs1564439559, rs149368374	RCV001003514 RCV001003515
ODAD2-related disorder	Pathogenic	rs369669370	RCV003892749
Primary ciliary dyskinesia	Pathogenic; Likely pathogenic	rs587777199, rs1175750984, rs879253744, rs780697353, rs1277709050, rs149368374, rs1564439559	RCV005887810 RCV002463320 RCV000608160 RCV003777340 RCV004524245 RCV002462174 RCV001003514 RCV001003515
Primary ciliary dyskinesia 23	Pathogenic; Likely pathogenic	rs587777199, rs149274011, rs2133342065, rs1564526396, rs752348839, rs771640361, rs774979481, rs988722926, rs145742175, rs1237311934, rs764402372, rs1849710760, rs753602333, rs2494438272, rs879253744 View all (23 more)	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

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Likely benign	rs1286999429	RCV005897041
Familial cancer of breast	Likely benign	rs1286999429	RCV005897040
Gastric cancer	Likely benign	rs1286999429	RCV005897043
Germ cell tumor of testis	Likely benign	rs113561552	RCV005929987
Hepatocellular carcinoma	Likely benign	rs113561552	RCV005929985
Lung cancer	Likely benign	rs1286999429	RCV005897044
Malignant lymphoma, large B-cell, diffuse	Likely benign	rs113561552	RCV005929986
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs145619075	RCV005893755
Sarcoma	Likely benign	rs1286999429	RCV005897042
Uterine corpus endometrial carcinoma	Likely benign	rs1286999429, rs370699691	RCV005897045 RCV005897046

ODAD2 (outer dynein arm docking complex subunit 2)