ENSG00000110318


Homo sapiens

Features
Gene ID: ENSG00000110318
  
Biological name :CEP126
  
Synonyms : centrosomal protein 126 / CEP126 / Q9P2H0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q22.1
Gene start: 101915015
Gene end: 102001058
  
Corresponding Affymetrix probe sets: 232166_at (Human Genome U133 Plus 2.0 Array)   235956_at (Human Genome U133 Plus 2.0 Array)   236325_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000263468
Ensembl peptide - ENSP00000433643
Ensembl peptide - ENSP00000437014
NCBI entrez gene - 57562     See in Manteia.
OMIM - 614634
RefSeq - XM_005271627
RefSeq - NM_020802
RefSeq Peptide - NP_065853
swissprot - H0YDI0
swissprot - Q9P2H0
swissprot - H0YF13
Ensembl - ENSG00000110318
  
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
 cep126ENSDARG00000068398Danio rerio
 CEP126ENSGALG00000017190Gallus gallus
 Cep126ENSMUSG00000040729Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR028257  Centrosomal protein of 126kDa


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007052 mitotic spindle organization IEA
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0031122 cytoplasmic microtubule organization IEA
 biological_processGO:0060271 cilium assembly IMP
 biological_processGO:1905515 non-motile cilium assembly IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0030496 midbody IDA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0097546 ciliary base IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0001337 Tremor "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators]
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 HP:0002380 Fasciculations "Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units." [HPO:curators]
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 HP:0002398 Degeneration of anterior horn cells 
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 HP:0002715 Immunological abnormality 
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 HP:0003134 Abnormal motor and sensory nerve conduction 
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 HP:0003457 Abnormal EMG findings "Abnormal results of investigations using electromyography (EMG)." [HPO:curators]
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 HP:0007149 Distal muscle atrophy, more severe in the upper limbs 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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