DNAAF5 (dynein axonemal assembly factor 5)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54919
Gene name Gene Name - the full gene name approved by the HGNC.
Dynein axonemal assembly factor 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DNAAF5
Synonyms (NCBI Gene) Gene synonyms aliases
CILD18, HEATR2
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p22.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder cha
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
SNP ID Visualize variation Clinical significance Consequence
rs61755909 A>G Conflicting-interpretations-of-pathogenicity Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs201507046 G>A Pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs397514561 T>C Pathogenic Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs765025514 G>A,T Pathogenic Splice acceptor variant
rs767713588 G>A,T Likely-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(19)
GO ID Ontology Definition Evidence Reference
GO:0003341 Process Cilium movement IBA
GO:0003341 Process Cilium movement IMP 23040496
GO:0005730 Component Nucleolus IDA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 23040496, 25232951
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
614864 26013 ENSG00000164818
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Q86Y56
Protein name Dynein axonemal assembly factor 5 (HEAT repeat-containing protein 2)
Protein function Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in nasal epithelium and lung epithelium by ciliated cells (at protein level). {ECO:0000269|PubMed:23040496}.
Sequence 
MAALGVAEAVAAPHPAEGAETAEAVELSRALSRLLPGLEADSKPGRRRALEALRRALEEP
GPAADPTAFQGPWARLLLPRLLRCLSDPAEGCRALAVHLLDLGLRRAARPRDALPRLLPA
LAARLAGPVPARRPPEACEELRLALVQLLGLAVDLCGAALAPHLDDALRALRCSLLDPFA
AVRRESCSCAAALAQATPDHFHMQSESLIGPLMQTISHQHWKVRVAAIEATGAVIHFGNG
KSVDDVLSHFAQRLFDDVPQVRRAVASVVGGWLLCLRDRYSFFHKLIPLLLSSLNDEVPE
VRQLAASLWEDVGLQWQKENEEDLKDKLDFAPPTPPHYPPHERRPVLGCRELVFRNLSKI
LPALCHDITDWVVGTRVKSAQLLPVLLLHAEDHATQHLEVVLRTLFQACTDEEAAVVQSC
TRSAELVGTFVSPEVFLKLILSTLKKTPSASGLLVLASAMRGCPREALQPHLAAIATELA
QAHICQASENDLYLERLLLCVQALVSVCHEDCGVASLQLLDVLLTIVALAGATGLRDKAQ
ETMDSLAMVEGVSSCQDLYRKHIGPLLERVTASHLDWTAHSPELLQFSVIVAQSGPALGE
ALPHVVPTLRACLQPSQDPQMRLKLFSILSTVLLRATDTINSQGQFPSYLETVTKDILAP
NLQWHAGRTAAAIRTAAVSCLWALTSSEVLSAEQIRDVQETLMPQVLTTLEEDSKMTRLI
SCRIINTFLKTSGGMTDPEKLIRIYPELLKRLDDVSNDVRMAAASTLVTWLQCVKGANAK
SYYQSSVQYLYRELLVHLDDPERAIQDAILEVLKEGSGLFPDLLVRETEAVIHKHRSATY
CEQLLQHVQAVPATQ
Sequence length 855
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 (1)
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, Primary ciliary dyskinesia 18 rs201507046, rs147811057, rs1583517442, rs1554248794, rs1217845018, rs1554248887, rs746849639, rs950490534, rs1554255966, rs397514561, rs767713588, rs878855036, rs144405450, rs1489856215, rs765025514 N/A
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ciliary Motility Disorders Associate 23040496, 33577779