ENSG00000165506


Homo sapiens

Features
Gene ID: ENSG00000165506
  
Biological name :DNAAF2
  
Synonyms : DNAAF2 / dynein axonemal assembly factor 2 / Q9NVR5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: -1
Band: q21.3
Gene start: 49625174
Gene end: 49635230
  
Corresponding Affymetrix probe sets: 219166_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000298292
Ensembl peptide - ENSP00000384862
NCBI entrez gene - 55172     See in Manteia.
OMIM - 612517
RefSeq - NM_001083908
RefSeq - NM_018139
RefSeq Peptide - NP_001077377
RefSeq Peptide - NP_060609
swissprot - Q9NVR5
Ensembl - ENSG00000165506
  
Related genetic diseases (OMIM): 612518 - Ciliary dyskinesia, primary, 10, 612518
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
 dnaaf2ENSDARG00000103132Danio rerio
 DNAAF2ENSGALG00000012232Gallus gallus
 AC099934.1ENSMUSG00000113149Mus musculus
 Dnaaf2ENSMUSG00000020973Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR008978  HSP20-like chaperone
 IPR012981  PIH1 domain
 IPR034727  Kintoun


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0060285 cilium-dependent cell motility IMP
 biological_processGO:0070286 axonemal dynein complex assembly IMP
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005829 cytosol IDA
 molecular_functionGO:0005515 protein binding IPI


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:0000389 Chronic otitis media 
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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:0002205 Recurrent respiratory infections 
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 HP:0005938 Ciliary dysgenesis 
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 HP:0011108 Recurrent sinusitis "A `recurrent` (PATO:0000427) form of `sinusitis` (HP:0000246)." [HPO:probinson]
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 HP:0011109 Chronic sinusitis "A chronic form of `sinusitis` (HP:0000246)." [HPO:probinson]
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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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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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