ODAD3 (outer dynein arm docking complex subunit 3)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
115948
Gene name Gene Name - the full gene name approved by the HGNC.
Outer dynein arm docking complex subunit 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ODAD3
Synonyms (NCBI Gene) Gene synonyms aliases
CCDC151, CILD30, ODA10
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615956 28303 ENSG00000198003
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ciliary dyskinesia Primary ciliary dyskinesia 30 rs1277185772, rs746849797, rs937290981, rs587777780, rs1186608353, rs1555723797, rs1555721837, rs1480671731, rs750658321 N/A
Kartagener Syndrome kartagener syndrome rs587777780 N/A