Entity Details

Primary name DNAAF4
Entity type gene
Source Source Link

Details

PrimaryID161582
RefseqGeneNG_021213
SymbolDNAAF4
Namedynein axonemal assembly factor 4
Chromosome15
Location15q21.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-01-25
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsDAAF4_HUMAN

GO terms

Show/Hide Table
GOName
GO:0001764 neuron migration
GO:0003341 cilium movement
GO:0003351 epithelial cilium movement involved in extracellular fluid movement
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0007368 determination of left/right symmetry
GO:0007507 heart development
GO:0030331 estrogen receptor binding
GO:0033146 regulation of intracellular estrogen receptor signaling pathway
GO:0036158 outer dynein arm assembly
GO:0036159 inner dynein arm assembly
GO:0043005 neuron projection
GO:0061136 regulation of proteasomal protein catabolic process
GO:0097730 non-motile cilium
GO:0120293 dynein axonemal particle

Diseases

Show/Hide Table
Disease IDSourceNameDescription
615482 OMIMCiliary dyskinesia, primary, 25 (CILD25)A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. The disease is caused by variants affecting the gene represented in this entry.
127700 OMIMDyslexia 1 (DYX1)A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability. Disease susceptibility is associated with variants affecting the gene represented in this entry. A chromosomal aberration involving DNAAF4 has been found in a family affected by dyslexia. Translocation t(2;15)(q11;q21).