DNAAF3 (dynein axonemal assembly factor 3)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 352909
Gene name Dynein axonemal assembly factor 3
Gene symbol DNAAF3
Synonyms (NCBI Gene)
C19orf51CILD2DAB1PCDPF22
Chromosome 19
Chromosome location 19q13.42
Summary 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.
4
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.
125
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IEA
GO:0005576 Component Extracellular region IEA
GO:0005737 Component Cytoplasm IEA
GO:0007283 Process Spermatogenesis IEA
GO:0007368 Process Determination of left/right symmetry IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614566 30492 ENSG00000167646
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
460
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Primary ciliary dyskinesia Likely pathogenic; Pathogenic rs2085781090, rs772829541, rs780701843, rs2085819579, rs2147297973, rs1384651581, rs2147311724, rs2147299107, rs1263006158, rs2515521686, rs2515521782, rs2515545899, rs2515545698, rs2085836426, rs760237737
View all (20 more)		 RCV001386334
RCV001386958
RCV002544243
RCV002440873
RCV002388673
RCV001849598
RCV001964329
RCV001878692
RCV003095613
RCV002876096
RCV003032021
RCV003053850
RCV003047719
RCV003537600
RCV003535449
RCV003647551
RCV003651108
RCV003652602
RCV003653000
RCV003822242
RCV000629507
RCV000462954
RCV000477276
RCV000464578
RCV000458124
RCV000472407
RCV000526566
RCV000627048
RCV000705066
RCV000693702
RCV000696666
RCV003652445
RCV000817818
RCV001064248
RCV001203727
Primary ciliary dyskinesia 2 Likely pathogenic; Pathogenic rs2085781090, rs2085819579, rs779603085, rs2147297973, rs2515547820, rs1568865669, rs387907151, rs387907152, rs397515395, rs756430359, rs1060502831, rs1349668884, rs770403610 RCV005094520
RCV001780967
RCV001780969
RCV001806847
RCV003445425
RCV003486383
RCV000024243
RCV000024244
RCV000024245
RCV002250632
RCV005355853
RCV000585680
RCV000763441
Sarcoma Likely pathogenic rs543369426 RCV005901696
Show/Hide Unknown Diseases (9)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs12104158 RCV005920288
Cervical cancer Benign; Likely benign rs200324983, rs10407660 RCV005895250
RCV005892478
Cholangiocarcinoma Benign rs12104158 RCV005920290
Colon adenocarcinoma Benign rs114393069 RCV005899573
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease associations identified through Pubtator
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