ENSG00000182372


Homo sapiens

Features
Gene ID: ENSG00000182372
  
Biological name :CLN8
  
Synonyms : CLN8 / CLN8, transmembrane ER and ERGIC protein / Q9UBY8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: 1
Band: p23.3
Gene start: 1755778
Gene end: 1801711
  
Corresponding Affymetrix probe sets: 219340_s_at (Human Genome U133 Plus 2.0 Array)   219341_at (Human Genome U133 Plus 2.0 Array)   222874_s_at (Human Genome U133 Plus 2.0 Array)   223912_s_at (Human Genome U133 Plus 2.0 Array)   229958_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000489694
Ensembl peptide - ENSP00000490458
Ensembl peptide - ENSP00000490439
Ensembl peptide - ENSP00000490235
Ensembl peptide - ENSP00000490218
Ensembl peptide - ENSP00000490016
Ensembl peptide - ENSP00000489999
Ensembl peptide - ENSP00000328182
Ensembl peptide - ENSP00000487905
Ensembl peptide - ENSP00000488898
NCBI entrez gene - 2055     See in Manteia.
OMIM - 607837
RefSeq - XM_011534746
RefSeq - XM_011534745
RefSeq - XM_005266021
RefSeq - XM_005266022
RefSeq - NM_018941
RefSeq - XM_005266023
RefSeq Peptide - NP_061764
swissprot - Q9UBY8
swissprot - A0A1B0GUR8
swissprot - A0A024QZ57
swissprot - A0A0J9YWD2
swissprot - A0A0J9YYK8
swissprot - A0A1B0GU79
Ensembl - ENSG00000182372
  
Related genetic diseases (OMIM): 600143 - Ceroid lipofuscinosis, neuronal, 8, 600143
  610003 - Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003
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
 cln8ENSDARG00000075525Danio rerio
 CLN8ENSGALG00000039606Gallus gallus
 Cln8ENSMUSG00000026317Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KBTBD11-OT1 / KBTBD11 overlapping transcript 1ENSG0000028323966


Protein motifs (from Interpro)
Interpro ID Name
 IPR006634  TRAM/LAG1/CLN8 homology domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006644 phospholipid metabolic process IMP
 biological_processGO:0006672 ceramide metabolic process IMP
 biological_processGO:0006869 lipid transport NAS
 biological_processGO:0007399 nervous system development IMP
 biological_processGO:0008203 cholesterol metabolic process IMP
 biological_processGO:0008610 lipid biosynthetic process NAS
 biological_processGO:0030163 protein catabolic process NAS
 biological_processGO:0045861 negative regulation of proteolysis NAS
 biological_processGO:0046513 ceramide biosynthetic process NAS
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane IEA


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:0000529 Progressive visual loss 
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 HP:0000709 Psychosis "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators]
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 HP:0000711 Restlessness 
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 HP:0000737 Irritability 
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 HP:0000750 Impaired language development 
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 HP:0001249 Mental retardation 
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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:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
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 HP:0001268 Mental deterioration 
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 HP:0001272 Cerebellar atrophy 
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 HP:0001336 Myoclonus "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators]
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 HP:0002059 Cerebral atrophy 
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 HP:0002069 Generalized tonic-clonic seizures "Generalized tonic-clonic seizures are `generalized seizures` (HP:0002197) in which the patient suddenly loses conciousness, the eyes roll back, and the entire body musculature undergoes tonic contractions. In the clonic phase of the seizure, there are rhythmic contractions of the musculature alternating with relaxation of all muscle groups. Loss of sphincter control during the seizure is common. This form of seizure was formerly commonly called grand mal seizure." [HPO:curators]
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 HP:0002074 Autofluorescent lipopigment in neurons 
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 HP:0002312 Clumsiness 
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 HP:0002353 EEG abnormalities "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators]
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 HP:0002376 Developmental regression 
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 HP:0002384 Complex partial seizures "A `partial seizure` (HP:0007359) characterized by impairment or loss of consciousness." [HPO:curators]
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 HP:0003205 Curvilinear profiles ultrastructurally 
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 HP:0003677 Slow progression 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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