ODAD1 (outer dynein arm docking complex subunit 1)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 93233
Gene name Outer dynein arm docking complex subunit 1
Gene symbol ODAD1
Synonyms (NCBI Gene)
CCDC114CILD20
Chromosome 19
Chromosome location 19q13.33
Summary This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20. [provided by RefSeq, May 2013]
SNPs SNP information provided by dbSNP.
11
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
SNP ID Visualize variation Clinical significance Consequence
rs141961809 A>G Conflicting-interpretations-of-pathogenicity Intron variant
rs147718607 C>T Pathogenic Missense variant, coding sequence variant
rs200168343 G>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs201133219 C>T Pathogenic, likely-pathogenic Intron variant
rs606231238 C>T Pathogenic Splice donor variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0003341 Process Cilium movement IBA
GO:0003341 Process Cilium movement IMP 23261302
GO:0003341 Process Cilium movement ISS
GO:0005515 Function Protein binding IPI 25192045, 25416956, 26871637, 27486780, 30148830, 30471718, 32296183, 33961781
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615038 26560 ENSG00000105479
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96M63
Protein name Outer dynein arm-docking complex subunit 1 (Coiled-coil domain-containing protein 114)
Protein function Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule. Involved in mediating assembly of both ODAs and their axonemal docking complex onto ciliary microtubules (By s
PDB 8J07
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in nasal epithelial cells (PubMed:23261302, PubMed:23261303). Highly expressed in testis and also detected in lung, brain and kidney (PubMed:23261302). {ECO:0000269|PubMed:23261302, ECO:0000269|PubMed:23261303}.
Sequence 
MEGERRAYSKEVHQRINKQLEEIRRLEEVRGDLQVQISAAQNQVKRLRDSQRLENMDRLL
KGRAQVQAEIEELQEQTRALDKQIQEWETRIFTHSKNVRSPGFILDQKVKIRRRIRILEN
QLDRVTCHFDNQLVRNAALREELDLLRIDRNRYLNVDRKLKKEIHHLHHLVSTLILSSTS
AYAVREEAKAKMGLLRERAEKEEAQSEMEAQVLQRQILHLEQLHHFLKLKNNDRQPDPDV
LEKREKQAGEVAEGVWKTSQERLVLCYEDALNKLSQLMGESDPDLLVQKYLEIEERNFAE
FNFINEQNLELEHVQEEIKEMQEALVSARASKDDQHLLQEQQQKVLQQRMDKVHSEAERL
EARFQDVRGQLEKLKADIQLLFTKAHCDSSMIDDLLGVKTSMGDRDMGLFLSLIEKRLVE
LLTVQAFLHAQSFTSLADAALLVLGQSLEDLPKKMAPLQPPDTLEDPPGFEASDDYPMSR
EELLSQVEKLVELQEQAEAQRQKDLAAAAAKLDGTLSVDLASTQRAGSSTVLVPTRHPHA
IPGSILSHKTSRDRGSLGHVTFGGLSSSTGHLPSHITHGDPNTGHVTFGSTSASSGGHVT
FRPVSASSYLGSTGYVGSSRGGENTEGGVESGGTASDSSGGLGSSRDHVSSTGPASSTGP
GSSTSKDSRG
Sequence length 670
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
512
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adams-Oliver syndrome 5 Pathogenic rs147718607, rs606231240 RCV005862739
RCV005862740
Familial cancer of breast Pathogenic rs147718607 RCV005888870
Kartagener syndrome Pathogenic rs147718607 RCV000190918
ODAD1-related disorder Likely pathogenic; Pathogenic rs1294704273, rs147718607, rs201133219 RCV003404261
RCV004754279
RCV004754280
Show/Hide Unknown Diseases (10)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs10416590 RCV005894282
Cholangiocarcinoma Benign rs73047547 RCV005917070
Clear cell carcinoma of kidney Benign rs79967289 RCV005894284
Fraser syndrome 3 Conflicting classifications of pathogenicity rs367799104 RCV001251019