ENSG00000171595


Homo sapiens

Features
Gene ID: ENSG00000171595
  
Biological name :DNAI2
  
Synonyms : DNAI2 / dynein axonemal intermediate chain 2 / Q9GZS0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q25.1
Gene start: 74274247
Gene end: 74314884
  
Corresponding Affymetrix probe sets: 220636_at (Human Genome U133 Plus 2.0 Array)   221668_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000400252
Ensembl peptide - ENSP00000462767
Ensembl peptide - ENSP00000464197
Ensembl peptide - ENSP00000308312
Ensembl peptide - ENSP00000461950
NCBI entrez gene - 64446     See in Manteia.
OMIM - 605483
RefSeq - XM_011525125
RefSeq - NM_001172810
RefSeq - NM_023036
RefSeq Peptide - NP_001166281
RefSeq Peptide - NP_075462
swissprot - J3KT23
swissprot - J3QRG2
swissprot - Q9GZS0
Ensembl - ENSG00000171595
  
Related genetic diseases (OMIM): 612444 - Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444
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
 dnai2bENSDARG00000074081Danio rerio
 DNAI2ENSGALG00000004495Gallus gallus
 A2AC93ENSMUSG00000034706Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
DNAI1 / Q9UI46 / dynein axonemal intermediate chain 1ENSG0000012273519
WDR78 / Q5VTH9 / WD repeat domain 78ENSG0000015276317
Q13409 / DYNC1I2 / dynein cytoplasmic 1 intermediate chain 2ENSG0000007738017
WDR34 / Q96EX3 / WD repeat domain 34ENSG0000011933316
O14576 / DYNC1I1 / dynein cytoplasmic 1 intermediate chain 1ENSG0000015856015


Protein motifs (from Interpro)
Interpro ID Name
 IPR001680  WD40 repeat
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR017986  WD40-repeat-containing domain
 IPR036322  WD40-repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003341 cilium movement IMP
 biological_processGO:0007368 determination of left/right symmetry IMP
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0036158 outer dynein arm assembly IMP
 biological_processGO:0060271 cilium assembly IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005858 axonemal dynein complex IMP
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0005930 axoneme IMP
 cellular_componentGO:0009897 external side of plasma membrane IEA
 cellular_componentGO:0030286 dynein complex IEA
 cellular_componentGO:0036126 sperm flagellum IDA
 cellular_componentGO:0036157 outer dynein arm IMP
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0003774 motor activity IEA
 molecular_functionGO:0003777 microtubule motor activity IMP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008574 ATP-dependent microtubule motor activity, plus-end-directed IBA
 molecular_functionGO:0045503 dynein light chain binding IBA
 molecular_functionGO:0045504 dynein heavy chain binding IBA


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:0000403 Recurrent 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:0002110 Bronchiectasis 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002257 Chronic rhinitis 
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 HP:0003251 Male infertility 
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 HP:0011108 Recurrent sinusitis "A `recurrent` (PATO:0000427) 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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