ENSG00000154118


Homo sapiens

Features
Gene ID: ENSG00000154118
  
Biological name :JPH3
  
Synonyms : JPH3 / junctophilin 3 / Q8WXH2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: q24.2
Gene start: 87601835
Gene end: 87698156
  
Corresponding Affymetrix probe sets: 220188_at (Human Genome U133 Plus 2.0 Array)   229294_at (Human Genome U133 Plus 2.0 Array)   234736_at (Human Genome U133 Plus 2.0 Array)   243679_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000284262
NCBI entrez gene - 57338     See in Manteia.
OMIM - 605268
RefSeq - NM_020655
RefSeq Peptide - NP_065706
swissprot - Q8WXH2
Ensembl - ENSG00000154118
  
Related genetic diseases (OMIM): 606438 - ?Huntington disease-like 2, 606438
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
 jph3ENSDARG00000102204Danio rerio
 si:ch211-146m13.3ENSDARG00000059534Danio rerio
 JPH3ENSGALG00000029424Gallus gallus
 Jph3ENSMUSG00000025318Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
JPH1 / Q9HDC5 / junctophilin 1ENSG0000010436945
JPH2 / Q9BR39 / junctophilin 2ENSG0000014959643
JPH4 / Q96JJ6 / junctophilin 4ENSG0000009205134


Protein motifs (from Interpro)
Interpro ID Name
 IPR003409  MORN motif
 IPR017191  Junctophilin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007612 learning IEA
 biological_processGO:0007613 memory IEA
 biological_processGO:0035640 exploration behavior IEA
 biological_processGO:0040011 locomotion IEA
 biological_processGO:0048168 regulation of neuronal synaptic plasticity IEA
 biological_processGO:0050885 neuromuscular process controlling balance IEA
 biological_processGO:0051209 release of sequestered calcium ion into cytosol IEA
 biological_processGO:0060314 regulation of ryanodine-sensitive calcium-release channel activity IEA
 biological_processGO:0060402 calcium ion transport into cytosol TAS
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0014701 junctional sarcoplasmic reticulum membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane NAS
 cellular_componentGO:0030314 junctional membrane complex IEA
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0015278 calcium-release channel activity IEA


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:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000726 Dementia 
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 HP:0000737 Irritability 
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 HP:0000738 Hallucinations 
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 HP:0000739 Anxiety 
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 HP:0000741 Apathy 
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 HP:0000746 Delusions 
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 HP:0000751 Personality changes 
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 HP:0001260 Dysarthria "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
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 HP:0001288 Gait disturbance "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators]
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 HP:0001300 Parkinsonism 
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 HP:0001332 Dystonia "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators]
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 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
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 HP:0001824 Weight loss 
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 HP:0002063 Rigidity 
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 HP:0002067 Bradykinesia "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [HPO:curators]
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 HP:0002072 Chorea "Chorea (Greek for dance ) refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion." [HPO:curators]
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 HP:0002120 Cerebral cortical atrophy 
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 HP:0002340 Caudate atrophy 
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 HP:0002345 Action tremor "A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement." [HPO:curators]
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 HP:0002354 Memory impairment 
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 HP:0002476 Primitive reflexes (palmomental, snout, glabellar) 
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 HP:0004302 Functional motor problems. 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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