ENSG00000141519


Homo sapiens

Features
Gene ID: ENSG00000141519
  
Biological name :CCDC40
  
Synonyms : CCDC40 / coiled-coil domain containing 40 / Q4G0X9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q25.3
Gene start: 80036632
Gene end: 80100613
  
Corresponding Affymetrix probe sets: 1563563_at (Human Genome U133 Plus 2.0 Array)   220592_at (Human Genome U133 Plus 2.0 Array)   220593_s_at (Human Genome U133 Plus 2.0 Array)   229918_at (Human Genome U133 Plus 2.0 Array)   239254_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000461034
Ensembl peptide - ENSP00000460002
Ensembl peptide - ENSP00000460432
Ensembl peptide - ENSP00000269318
Ensembl peptide - ENSP00000364010
Ensembl peptide - ENSP00000364011
Ensembl peptide - ENSP00000380679
Ensembl peptide - ENSP00000459489
NCBI entrez gene - 55036     See in Manteia.
OMIM - 613799
RefSeq - XM_017024807
RefSeq - NM_001243342
RefSeq - NM_017950
RefSeq - XM_005257492
RefSeq - XM_011524963
RefSeq - XM_011524964
RefSeq - XM_011524965
RefSeq Peptide - NP_001317437
RefSeq Peptide - NP_060420
RefSeq Peptide - NP_001230271
swissprot - I3L3G6
swissprot - I3L477
swissprot - Q4G0X9
swissprot - I3L292
swissprot - I3L2X6
Ensembl - ENSG00000141519
  
Related genetic diseases (OMIM): 613808 - Ciliary dyskinesia, primary, 15, 613808
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
 ccdc40ENSDARG00000100584Danio rerio
 CCDC40ENSGALG00000007042Gallus gallus
 Ccdc40ENSMUSG00000039963Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR037386  Coiled-coil domain-containing protein 40


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001947 heart looping IMP
 biological_processGO:0003341 cilium movement IMP
 biological_processGO:0003351 epithelial cilium movement IMP
 biological_processGO:0003356 regulation of cilium beat frequency IMP
 biological_processGO:0030317 flagellated sperm motility IMP
 biological_processGO:0030324 lung development IMP
 biological_processGO:0035082 axoneme assembly IEA
 biological_processGO:0035469 determination of pancreatic left/right asymmetry IMP
 biological_processGO:0036159 inner dynein arm assembly IMP
 biological_processGO:0044458 motile cilium assembly IMP
 biological_processGO:0060287 epithelial cilium movement involved in determination of left/right asymmetry IMP
 biological_processGO:0070286 axonemal dynein complex assembly IMP
 biological_processGO:0071907 determination of digestive tract left/right asymmetry IMP
 biological_processGO:0071910 determination of liver left/right asymmetry IMP
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005929 cilium ISS
 cellular_componentGO:0005930 axoneme IDA
 cellular_componentGO:0042995 cell projection IEA
 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:0000246 Sinusitis 
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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:0012258 Abnormal axonemal organization of motile ciliasss "Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9 + 2 microtubular pattern of motile cilia studded with dynein arms." [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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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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