ENSG00000172426


Homo sapiens

Features
Gene ID: ENSG00000172426
  
Biological name :RSPH9
  
Synonyms : Q9H1X1 / radial spoke head 9 homolog / RSPH9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: p21.1
Gene start: 43645046
Gene end: 43672599
  
Corresponding Affymetrix probe sets: 230695_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000361236
Ensembl peptide - ENSP00000361238
NCBI entrez gene - 221421     See in Manteia.
OMIM - 612648
RefSeq - XM_017010426
RefSeq - NM_001193341
RefSeq - NM_152732
RefSeq - XM_005248901
RefSeq Peptide - NP_001180270
RefSeq Peptide - NP_689945
swissprot - Q9H1X1
Ensembl - ENSG00000172426
  
Related genetic diseases (OMIM): 612650 - Ciliary dyskinesia, primary, 12, 612650
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
 rsph9ENSDARG00000017355Danio rerio
 RSPH9ENSGALG00000010299Gallus gallus
 Rsph9ENSMUSG00000023966Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR006802  Radial spokehead-like protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003341 cilium movement IMP
 biological_processGO:0035082 axoneme assembly IMP
 biological_processGO:0044458 motile cilium assembly IBA
 biological_processGO:0060294 cilium movement involved in cell motility IBA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0005930 axoneme IC
 cellular_componentGO:0031514 motile cilium IC
 cellular_componentGO:0042995 cell projection IEA
 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:0002110 Bronchiectasis 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002257 Chronic rhinitis 
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 HP:0003546 Exercise intolerance 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0011109 Chronic sinusitis "A chronic form of `sinusitis` (HP:0000246)." [HPO:probinson]
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 HP:0012208 Nonmotile sperm "A lack of mobility of ejaculated sperm." [HPO:probinson]
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 HP:0012260 Abnormal central microtubular pair morphology of motile cilia "A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration." [HPO:probinson, pmid:19200523]
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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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