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

Gene Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	55130
Gene name Gene Name - the full gene name approved by the HGNC.	Outer dynein arm docking complex subunit 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ODAD2
Synonyms (NCBI Gene) Gene synonyms aliases	ARMC4, CILD23, gudu
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10p12.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Ciliary dyskinesia	Primary ciliary dyskinesia 23, primary ciliary dyskinesia	rs1409069267, rs587777048, rs1554822213, rs587777049, rs1297261096, rs587777199, rs768447289, rs145742175, rs369669370, rs879253744, rs1588663203, rs149368374, rs201213030, rs771920114, rs868755574, rs587777047, rs769346541 View all (2 more)	N/A
Kartagener Syndrome	kartagener syndrome	rs587777047	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Hypertension	Hypertension	N/A	N/A	GWAS
Prostate cancer	Prostate cancer	N/A	N/A	GWAS

ODAD2 (outer dynein arm docking complex subunit 2)