ENSG00000167646


Homo sapiens

Features
Gene ID: ENSG00000167646
  
Biological name :DNAAF3
  
Synonyms : DNAAF3 / dynein axonemal assembly factor 3 / Q8N9W5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: q13.42
Gene start: 55158661
Gene end: 55166722
  
Corresponding Affymetrix probe sets: 230033_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000432838
Ensembl peptide - ENSP00000473009
Ensembl peptide - ENSP00000472645
Ensembl peptide - ENSP00000436975
Ensembl peptide - ENSP00000433826
Ensembl peptide - ENSP00000433247
Ensembl peptide - ENSP00000375600
Ensembl peptide - ENSP00000394343
Ensembl peptide - ENSP00000432046
Ensembl peptide - ENSP00000432360
NCBI entrez gene - 352909     See in Manteia.
OMIM - 614566
RefSeq - NM_001256715
RefSeq - NM_001256716
RefSeq - NM_178837
RefSeq - NM_001256714
RefSeq Peptide - NP_001243644
RefSeq Peptide - NP_001243645
RefSeq Peptide - NP_849159
RefSeq Peptide - NP_001243643
swissprot - Q8N9W5
swissprot - A0A0C4DH78
swissprot - A0A0C4DH50
swissprot - A0A0A0MS19
swissprot - H0YCU4
swissprot - H0YD30
swissprot - M0R2L0
swissprot - M0R359
swissprot - A0A0C4DH81
Ensembl - ENSG00000167646
  
Related genetic diseases (OMIM): 606763 - Ciliary dyskinesia, primary, 2, 606763
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 dnaaf3ENSDARG00000092662Danio rerio
 dnaaf3lENSDARG00000036304Danio rerio
 Dnaaf3ENSMUSG00000055809Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AC010327.1ENSG0000026711025


Protein motifs (from Interpro)
Interpro ID Name
 IPR027974  Domain of unknown function DUF4470
 IPR028235  Dynein assembly factor 3, C-terminal domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0044458 motile cilium assembly IMP
 biological_processGO:0070286 axonemal dynein complex assembly IMP
 cellular_componentGO:0005737 cytoplasm IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000246 Sinusitis 
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 HP:0000365 Hearing loss 
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 HP:0000388 Otitis media 
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 HP:0000789 Infertility 
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 HP:0001696 Situs inversus "A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs." [HPO:curators]
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 HP:0002098 Respiratory distress 
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 HP:0002110 Bronchiectasis 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0003577 Onset at birth 
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 HP:0012259 Absent inner and outer dynein arms "Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [HPO:probinson, pmid:19606528]
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 HP:0012263 Immotile cilia 
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 HP:0012265 Ciliary dyskinesia "A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia." [HPO:probinson, pmid:19606528]
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 HP:0100582 Nasal polyposis "Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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