ENSG00000139537


Homo sapiens

Features
Gene ID: ENSG00000139537
  
Biological name :CCDC65
  
Synonyms : CCDC65 / coiled-coil domain containing 65 / Q8IXS2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q13.12
Gene start: 48904110
Gene end: 48931840
  
Corresponding Affymetrix probe sets: 1552320_a_at (Human Genome U133 Plus 2.0 Array)   1552321_a_at (Human Genome U133 Plus 2.0 Array)   1561523_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000266984
Ensembl peptide - ENSP00000312706
Ensembl peptide - ENSP00000446569
Ensembl peptide - ENSP00000447157
NCBI entrez gene - 85478     See in Manteia.
OMIM - 611088
RefSeq - NM_033124
RefSeq - NM_001286957
RefSeq Peptide - NP_001273886
RefSeq Peptide - NP_149115
swissprot - Q8IXS2
swissprot - F8VR42
swissprot - F8W0R6
Ensembl - ENSG00000139537
  
Related genetic diseases (OMIM): 615504 - Ciliary dyskinesia, primary, 27, 615504
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
 ccdc65ENSDARG00000032005Danio rerio
 Ccdc65ENSMUSG00000003354Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
No match


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003352 regulation of cilium movement IMP
 biological_processGO:0060271 cilium assembly IMP
 cellular_componentGO:0005575 cellular_component ND
 molecular_functionGO:0003674 molecular_function ND


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: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: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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