ENSG00000105479


Homo sapiens

Features
Gene ID: ENSG00000105479
  
Biological name :CCDC114
  
Synonyms : CCDC114 / coiled-coil domain containing 114 / Q96M63
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: q13.33
Gene start: 48296457
Gene end: 48321894
  
Corresponding Affymetrix probe sets: 233157_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000318429
NCBI entrez gene - 93233     See in Manteia.
OMIM - 615038
RefSeq - XM_017027483
RefSeq - NM_144577
RefSeq - XM_011527516
RefSeq - XM_011527517
RefSeq - XM_005259413
RefSeq - XM_005259414
RefSeq - XM_005259415
RefSeq - XM_005259416
RefSeq - XM_011527515
RefSeq Peptide - NP_653178
swissprot - Q96M63
Ensembl - ENSG00000105479
  
Related genetic diseases (OMIM): 615067 - Ciliary dyskinesia, primary, 20, 615067
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
 ccdc114ENSDARG00000015010Danio rerio
 Q3UX62ENSMUSG00000040189Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CCDC63 / Q8NA47 / coiled-coil domain containing 63ENSG0000017309319


Protein motifs (from Interpro)
Interpro ID Name
No match


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003341 cilium movement IMP
 biological_processGO:0036158 outer dynein arm assembly IMP
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0005930 axoneme IDA
 cellular_componentGO:0036157 outer dynein arm IMP
 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:0000403 Recurrent otitis media 
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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:0006532 Pneumonia, recurrent episodes 
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 HP:0011108 Recurrent sinusitis "A `recurrent` (PATO:0000427) form of `sinusitis` (HP:0000246)." [HPO:probinson]
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 HP:0012256 Absent outer dynein arms "Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [HPO:probinson, pmid:19606528]
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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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 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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