ENSG00000141013


Homo sapiens

Features
Gene ID: ENSG00000141013
  
Biological name :GAS8
  
Synonyms : GAS8 / growth arrest specific 8 / O95995
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: q24.3
Gene start: 90019629
Gene end: 90044975
  
Corresponding Affymetrix probe sets: 204921_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000457554
Ensembl peptide - ENSP00000455936
Ensembl peptide - ENSP00000482877
Ensembl peptide - ENSP00000268699
Ensembl peptide - ENSP00000440977
Ensembl peptide - ENSP00000454343
Ensembl peptide - ENSP00000455172
NCBI entrez gene - 2622     See in Manteia.
OMIM - 605178
RefSeq - XM_017023125
RefSeq - NM_001481
RefSeq - XM_005256304
RefSeq - XM_005256309
RefSeq - XM_006721175
RefSeq - XM_011522990
RefSeq - XM_011522991
RefSeq - XM_011522992
RefSeq - XM_017023122
RefSeq - XM_017023123
RefSeq - XM_017023124
RefSeq - NM_001286205
RefSeq - NM_001286208
RefSeq - NM_001286209
RefSeq Peptide - NP_001273137
RefSeq Peptide - NP_001273138
RefSeq Peptide - NP_001472
RefSeq Peptide - NP_001273134
swissprot - A0A087WZT7
swissprot - H3BME0
swissprot - O95995
swissprot - H3BP65
swissprot - H3BQT7
swissprot - H3BUA7
Ensembl - ENSG00000141013
  
Related genetic diseases (OMIM): 616726 - Ciliary dyskinesia, primary, 33, 616726
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
 gas8ENSDARG00000101431Danio rerio
 GAS8ENSGALG00000000540Gallus gallus
 Gas8ENSMUSG00000040220Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR025593  Growth arrest-specific protein 8


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003351 epithelial cilium movement IEA
 biological_processGO:0007368 determination of left/right symmetry IEA
 biological_processGO:0007420 brain development IEA
 biological_processGO:0008285 negative regulation of cell proliferation TAS
 biological_processGO:0030317 flagellated sperm motility IEA
 biological_processGO:0034613 cellular protein localization IEA
 biological_processGO:0035082 axoneme assembly IEA
 biological_processGO:0048870 cell motility IEA
 biological_processGO:0060294 cilium movement involved in cell motility IMP
 biological_processGO:1904526 regulation of microtubule binding IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005794 Golgi apparatus IBA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0005930 axoneme IDA
 cellular_componentGO:0015630 microtubule cytoskeleton IEA
 cellular_componentGO:0031514 motile cilium IEA
 cellular_componentGO:0036064 ciliary basal body IEA
 cellular_componentGO:0036126 sperm flagellum IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0097729 9+2 motile cilium IEA
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0008017 microtubule binding IEA
 molecular_functionGO:0017137 Rab GTPase binding IEA


Pathways (from Reactome)
Pathway description
Activation of SMO


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:0000405 Hearing loss, conductive 
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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:0002837 Bronchitis 
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 HP:0006532 Pneumonia, recurrent episodes 
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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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 HP:0012735 Cough "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson]
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 HP:0100750 Atelectasis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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