DNAAF3 (dynein axonemal assembly factor 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
352909
Gene name Gene Name - the full gene name approved by the HGNC.
Dynein axonemal assembly factor 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DNAAF3
Synonyms (NCBI Gene) Gene synonyms aliases
C19orf51, CILD2, DAB1, PCD, PF22
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CILD2
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.42
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2).
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs387907151 A>G Pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
rs387907152 G>A Pathogenic Stop gained, coding sequence variant
rs543369426 C>T Likely-pathogenic Intron variant, splice acceptor variant
rs745465871 ->A Pathogenic 5 prime UTR variant, frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(125)
miRTarBase ID miRNA Experiments Reference
MIRT017491 hsa-miR-335-5p Microarray 18185580
MIRT619083 hsa-miR-3646 HITS-CLIP 23824327
MIRT619081 hsa-miR-153-5p HITS-CLIP 23824327
MIRT619080 hsa-miR-186-3p HITS-CLIP 23824327
MIRT619079 hsa-miR-150-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0044458 Process Motile cilium assembly IMP 22387996
GO:0070286 Process Axonemal dynein complex assembly IMP 22387996
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614566 30492 ENSG00000167646
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8N9W5
Protein name Dynein axonemal assembly factor 3
Protein function Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14737 DUF4470 16 → 122 Domain of unknown function (DUF4470) Family
PF14740 DUF4471 154 → 443 Domain of unknown function (DUF4471) Domain
Sequence
Sequence length 541
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (8)
Causal
Disease term Disease name dbSNP ID References
Bronchiectasis Bronchiectasis rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016
View all (214 more)
Ciliary dyskinesia Ciliary Motility Disorders, CILIARY DYSKINESIA, PRIMARY, 2 (disorder), Primary Ciliary Dyskinesia, Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus, Primary ciliary dyskinesia rs397515339, rs267607225, rs267607226, rs786205052, rs267607227, rs118204041, rs118204042, rs118204043, rs137853191, rs121434369, rs397515565, rs397515358, rs137852998, rs397515363, rs79833450
View all (813 more)		 22387996
Corneal dystrophy Corneal dystrophy rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Hearing loss Conductive hearing loss rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma ClinVar
Otitis media Otitis Media, Otitis Media with Effusion, Chronic otitis media ClinVar
Show/Hide Text Mining Associations (5)
Associations from Text Mining
Disease Name Relationship Type References
Ciliary Motility Disorders Associate 33577779
Cystic Fibrosis Associate 29323929
Genetic Diseases Inborn Associate 32917333
Neoplasms Associate 37711621
Stomach Neoplasms Associate 37711621