ENSG00000162004


Homo sapiens

Features
Gene ID: ENSG00000162004
  
Biological name :CCDC78
  
Synonyms : A2IDD5 / CCDC78 / coiled-coil domain containing 78
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: p13.3
Gene start: 722582
Gene end: 726954
  
Corresponding Affymetrix probe sets: 236745_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000458590
Ensembl peptide - ENSP00000293889
Ensembl peptide - ENSP00000316851
NCBI entrez gene - 124093     See in Manteia.
OMIM - 614666
RefSeq - XM_017022932
RefSeq - XM_011522370
RefSeq - XM_011522371
RefSeq - XM_017022929
RefSeq - XM_017022930
RefSeq - NM_001031737
RefSeq - XM_006720838
RefSeq - XM_006720843
RefSeq - XM_011522356
RefSeq - XM_011522357
RefSeq - XM_011522358
RefSeq - XM_011522359
RefSeq - XM_011522360
RefSeq - XM_011522361
RefSeq - XM_011522362
RefSeq - XM_011522363
RefSeq - XM_011522364
RefSeq - XM_011522365
RefSeq - XM_011522366
RefSeq - XM_011522367
RefSeq - XM_011522368
RefSeq - XM_011522369
RefSeq Peptide - NP_001026907
swissprot - H3BLT8
swissprot - I3L158
swissprot - A2IDD5
Ensembl - ENSG00000162004
  
Related genetic diseases (OMIM): 614807 - ?Centronuclear myopathy 4, 614807
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
 ccdc78ENSDARG00000030095Danio rerio
 ENSGALG00000043922Gallus gallus
 ENSGALG00000044070Gallus gallus
 Ccdc78ENSMUSG00000071202Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR029329  Domain of unknown function DUF4472


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003009 skeletal muscle contraction IMP
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0098535 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005814 centriole IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016529 sarcoplasmic reticulum IEA
 cellular_componentGO:0042383 sarcolemma IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0098536 deuterosome IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0003326 Myalgia "A tendency to experience muscle pain." [HPO:curators]
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 HP:0100543 Cognitive impairment "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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