ODAD1 (outer dynein arm docking complex subunit 1)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
93233
Gene name Gene Name - the full gene name approved by the HGNC.
Outer dynein arm docking complex subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ODAD1
Synonyms (NCBI Gene) Gene synonyms aliases
CCDC114, CILD20
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615038 26560 ENSG00000105479
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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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 20, primary ciliary dyskinesia rs147718607, rs1421531868, rs766394527, rs753915759, rs606231238, rs606231239, rs201133219, rs606231240, rs1060500990 N/A
Kartagener Syndrome kartagener syndrome rs147718607 N/A
Show/Hide Unknown Diseases (1)
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.
Disease merge term Disease name Evidence References Source
Fraser syndrome fraser syndrome 3 N/A N/A ClinVar