ENSG00000159079


Homo sapiens

Features
Gene ID: ENSG00000159079
  
Biological name :C21orf59
  
Synonyms : C21orf59 / chromosome 21 open reading frame 59 / P57076
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 21
Strand: -1
Band: q22.11
Gene start: 32592079
Gene end: 32612866
  
Corresponding Affymetrix probe sets: 218123_at (Human Genome U133 Plus 2.0 Array)   244369_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000371989
Ensembl peptide - ENSP00000411467
Ensembl peptide - ENSP00000411306
Ensembl peptide - ENSP00000407362
Ensembl peptide - ENSP00000393104
Ensembl peptide - ENSP00000290155
Ensembl peptide - ENSP00000300260
NCBI entrez gene - 56683     See in Manteia.
OMIM - 615494
RefSeq - NM_021254
RefSeq Peptide - NP_067077
swissprot - H7C2R6
swissprot - H7C3D9
swissprot - P57076
swissprot - D3DSE6
swissprot - Q9NX33
swissprot - C9JX57
swissprot - C9J818
Ensembl - ENSG00000159079
  
Related genetic diseases (OMIM): 615500 - Ciliary dyskinesia, primary, 26, 615500
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
 c10h21orf59ENSDARG00000035332Danio rerio
 C1H21ORF59ENSGALG00000037962Gallus gallus
 Q8BL95ENSMUSG00000022972Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AP000275.2ENSG0000026559080


Protein motifs (from Interpro)
Interpro ID Name
 IPR021298  Protein of unknown function DUF2870


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003352 regulation of cilium movement IMP
 biological_processGO:0048858 cell projection morphogenesis IBA
 biological_processGO:0060271 cilium assembly IMP
 cellular_componentGO:0005634 nucleus HDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol HDA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0042995 cell projection IEA


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:0000789 Infertility 
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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:0004469 Chronic bronchitis 
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 HP:0011108 Recurrent sinusitis "A `recurrent` (PATO:0000427) form of `sinusitis` (HP:0000246)." [HPO:probinson]
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 HP:0012207 Reduced sperm motility "An abnormal reduction in the mobility of ejaculated sperm." [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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 HP:0012384 Rhinitis "Inflammation of the nasal mucosa with nasal congestion." [HPO:probinson]
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 HP:0200073 Respiratory insufficiency due to defective ciliary clearance 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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