ENSG00000136710


Homo sapiens

Features
Gene ID: ENSG00000136710
  
Biological name :CCDC115
  
Synonyms : CCDC115 / coiled-coil domain containing 115 / Q96NT0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q21.1
Gene start: 130338241
Gene end: 130342349
  
Corresponding Affymetrix probe sets: 224946_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000387301
Ensembl peptide - ENSP00000403480
Ensembl peptide - ENSP00000259229
NCBI entrez gene - 84317     See in Manteia.
OMIM - 613734
RefSeq - NM_032357
RefSeq - NM_001321118
RefSeq - NM_001321119
RefSeq Peptide - NP_001308047
RefSeq Peptide - NP_115733
RefSeq Peptide - NP_001308048
swissprot - Q96NT0
swissprot - A0A024QZZ6
swissprot - B8ZZ99
swissprot - F8WCZ3
Ensembl - ENSG00000136710
  
Related genetic diseases (OMIM): 616828 - Congenital disorder of glycosylation, type IIo, 616828
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
 ccdc115ENSDARG00000033533Danio rerio
 Q8VE99ENSMUSG00000042111Mus 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:0006879 cellular iron ion homeostasis IMP
 biological_processGO:0007042 lysosomal lumen acidification IMP
 biological_processGO:0036295 cellular response to increased oxygen levels IMP
 biological_processGO:1905146 lysosomal protein catabolic process IMP
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005793 endoplasmic reticulum-Golgi intermediate compartment IEA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0016471 vacuolar proton-transporting V-type ATPase complex IDA
 cellular_componentGO:0030137 COPI-coated vesicle IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0042406 extrinsic component of endoplasmic reticulum membrane IBA
 molecular_functionGO:0051082 unfolded protein binding IBA


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:0000276 Long face 
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 HP:0000494 Downward slanting palpebral fissures 
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 HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001394 Cirrhosis 
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 HP:0001399 Hepatic failure 
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 HP:0001433 Hepatosplenomegaly 
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002611 Cholestatic liver disease 
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 HP:0002910 Elevated transaminases "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators]
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 HP:0003124 Hypercholesterolemia 
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 HP:0003141 Increased beta-lipoproteins "An increase in the blood concentration of beta lipoprotein, which is a low-density lipoprotein involved in the blood transport of cholesterol." [HPO:curators]
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003236 Elevated serum creatine phosphokinase 
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 HP:0003593 Early onset 
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 HP:0006579 Prolonged neonatal jaundice 
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 HP:0010639 Elevated alkaline phosphatase of bone origin "An abnormally increased level of bone isoforms of `alkaline phosphatase, tissue-nonspecific isozyme` (PRO:000003968) in the blood." [HPO:probinson]
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 HP:0010837 Decreased serum ceruloplasmin "A kind of `Abnormality of copper homeostasis` (HP:0010836) related to a `decreased concentration` (PATO:0001163) of `ceruloplasmin` (PR:000005794) in the `blood` (FMA:9670)." [HPO:probinson]
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 HP:0012345 Abnormal glycosylation "An anomaly of a `glycosylation` (GO:0070085) process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule." [HPO:probinson]
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 HP:0025321 Copper accumulation in liver "An anomalous build up of copper (Cu) in the liver." []
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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