ENSG00000130363


Homo sapiens

Features
Gene ID: ENSG00000130363
  
Biological name :RSPH3
  
Synonyms : Q86UC2 / radial spoke head 3 homolog / RSPH3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: q25.3
Gene start: 158972871
Gene end: 159000187
  
Corresponding Affymetrix probe sets: 1568613_at (Human Genome U133 Plus 2.0 Array)   223713_at (Human Genome U133 Plus 2.0 Array)   229810_at (Human Genome U133 Plus 2.0 Array)   235889_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000252655
Ensembl peptide - ENSP00000393195
Ensembl peptide - ENSP00000356036
NCBI entrez gene - 83861     See in Manteia.
OMIM - 615876
RefSeq - XM_005267153
RefSeq - XM_017011347
RefSeq - NM_031924
RefSeq Peptide - NP_114130
swissprot - Q86UC2
swissprot - A0A0C4DG29
swissprot - A0A0C4DFU3
Ensembl - ENSG00000130363
  
Related genetic diseases (OMIM): 616481 - Ciliary dyskinesia, primary, 32, 616481
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
 rsph3ENSDARG00000043470Danio rerio
 ENSGALG00000046008Gallus gallus
 Q3UFY4ENSMUSG00000073471Mus musculus
 Q9DA80ENSMUSG00000023806Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR009290  Radial spoke 3


Gene Ontology (GO)
TypeGO IDTermEv.Code
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 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]
Show

 HP:0002110 Bronchiectasis 
Show

 HP:0002205 Recurrent respiratory infections 
Show

 HP:0002643 Neonatal respiratory distress 
Show

 HP:0003577 Onset at birth 
Show

 HP:0012263 Immotile cilia 
Show

 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]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr