JPH3 - junctophilin 3 Gene

Also Known as JP3; HDL2; JP-3; TNRC22; CAGL237

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57338

About JPH3

Cytogenetic location: 16q24.2 Genomic coordinates (GRCh38): 16:87,601,835-87,698,156 (from NCBI)

This gene has 4 transcripts (splice variants), 278 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 10.9), adrenal (RPKM 0.6) and 1 other tissue.

Summary

Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016]

JPH3 Products (3)

mRNA	Protein	Name
NM_001271604.4	NP_001258533.1	junctophilin-3 isoform 2
NM_001271605.3	NP_001258534.1	junctophilin-3 isoform 3
NM_020655.4	NP_065706.2	junctophilin-3 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

JPH3 Protein Structure

MORN

0
200
400
600
748 a.a.

Protein Preferred Names	Protein Names
junctophilin-3	junctophilin type 3

JPH3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	JPH3	Q8WXH2	KRTAP10-8	Homo sapiens	P60410	Y2H Array	32296183
Intra	JPH3	Q8WXH2	KRTAP10-8	Homo sapiens	P60410	Y2H Prey Pooling	32296183
Intra	JPH3	Q8WXH2	CLPP	Homo sapiens	Q16740	Validated Y2H	32814053
Intra	JPH3	Q8WXH2	CLPP	Homo sapiens	Q16740	Y2H Array	32814053
Intra	JPH3	Q8WXH2	CLPP	Homo sapiens	Q16740	Y2H Pooling	32814053
Intra	JPH3	Q8WXH2	HNRNPU	Homo sapiens	Q00839-2	Validated Y2H	32814053
Intra	JPH3	Q8WXH2	HNRNPU	Homo sapiens	Q00839-2	Y2H Pooling	32814053
Intra	JPH3	Q8WXH2	HNRNPU	Homo sapiens	Q00839-2	Y2H Array	32814053
Intra	JPH3	Q8WXH2	IL22RA1	Homo sapiens	Q8N6P7	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Huntington Disease-Like 2	HDL2 Huntington'S Disease-Like 2 Huntington Disease-Like, Type 2
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
Spinocerebellar Ataxia 17	Spinocerebellar Ataxia Type 17 SCA17 Huntington Disease-Like 4 Hdl4 Olivopontocerebellar Atrophy V Cerebelloparenchymal Disorder Ii Opca5 Cpd2 Sca 17 Ataxia, Spinocerebellar, Type 17
Dentatorubral-Pallidoluysian Atrophy	DRPLA Naito-Oyanagi Disease Haw River Syndrome Myoclonic Epilepsy With Choreoathetosis Nod Ataxia, Chorea, Seizures, And Dementia Dentatorubropallidoluysian Atrophy Hrs Naito Oyanagi Disease Dentatorubral Pallidoluysian Atrophy Dentatorubro-Pallidoluysian Atrophy Myoclonic Epilepsies, Progressive Atrophy, Pallidoluysian, Dentatorubral
Huntington Disease-Like 1	HDL1 Huntington-Like Neurodegenerative Disorder 1 Hln1 Huntington'S Disease-Like 1 Early-Onset Prion Disease With Prominent Psychiatric Features Huntington-Like Neurodegenerative Disorder, Autosomal Dominant Prion Disease, Early-Onset, With Prominent Psychiatric Features Autosomal Dominant Huntington-Like Neurodegenerative Disorder Huntington Disease-Like, Type 1
Choreoacanthocytosis	Chorea-Acanthocytosis CHAC Acanthocytosis With Neurologic Disorder Levine-Critchley Syndrome Choreaacanthocytosis Chorea Acanthocytosis Neuroacanthocytosis Levine-Critchley Syndrome, Formerly Neuroacanthocytosis, Formerly Choreo-Acanthocytosis Acanthocytosis Chorea Chorea Acanthocytosis Syndrome
Holoprosencephaly 5	HPE5 Holoprosencephaly-5 Holoprosencephaly, Type 5
Neuroacanthocytosis	Neuroacanthocytosis Syndrome
Dementia	Dementias Presenile Dementia Alzheimer Type Dementia Alzheimer Sclerosis Alzheimer Disease Dementia Alzheimer Dementia Primary Degenerative Alzheimer Type Dementia End Stage Alzheimer'S Dementia Alzheimer'S Type Atypical Dementia Alzheimer Type Presenile Dementia Early Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 2 Dementia In Alzheimer Disease With Early Onset Early Onset Alzheimer Type Dementia, Uncomplicated Primary Degenerative Alzheimer Type Dementia, Early Onset Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated Alzheimer Disease Dementia With Early Onset Presenile Sclerosis Presenile Brain Sclerosis Presenile Alzheimer Brain Sclerosis Late Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 1 Dementia In Alzheimer Disease With Late Onset Primary Degenerative Alzheimer Type Dementia, Late Onset Sdat - [Senile Dementia, Alzheimer Type] Alzheimer Disease Dementia With Late Onset Late Onset Alzheimer Brain Sclerosis Senile Alzheimer Brain Disease Senile Alzheimer Brain Sclerosis Senile Primary Degenerative Alzheimer Type Dementia Senile Dementia Of The Alzheimer Type Arteriosclerotic Dementia Strategic-Infarct Dementia Post Stroke Dementia Vascular Cognitive Impairment Vascular Dementia Dementia Of The Lewy Body Type Dementia With Lewy Bodies Sdlt - [Senile Dementia Of The Lewy Body Type] Senile Dementia Of The Lewy Body Type Alcohol-Related Dementia Alcoholic Dementia Nos Alcohol-Induced Dementia Alcoholic Brain Syndrome Chronic Alcoholic Brain Syndrome Alcohol Dementia Late Onset Alcoholic Psychosis Residual And Late-Onset Alcohol-Induced Psychotic Disorder Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder Late-Onset Psychoactive Substance-Induced Psychotic Disorder Inhalant Dementia Volatile Solvents Dementia Dementia In Paralysis Agitans Pdd - [Parkinson Disease Dementia] Dementia Syndrome Of Parkinson Disease Dementia In Parkinson Disease Parkinson Related Dementia Dementia In Huntington Chorea Hiv - [Human Immunodeficiency Virus] Dementia Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex Aids Related Dementia Dementia Due To Niacin Deficiency
Mcleod Syndrome	Mcleod Neuroacanthocytosis Syndrome MLS X-Linked Mcleod Syndrome Mcleod Phenotype Neuroacanthocytosis, Mcleod Type Mcleod Syndrome With Or Without Chronic Granulomatous Disease MCLDS Mcleod Type Neuroacanthocytosis Mcleod Syndrome With Chronic Granulomatous Disease Neuroacanthocytosis Mcleod Type Blood Group Deletion Syndrome
Spinocerebellar Ataxia 2	Spinocerebellar Ataxia Type 2 SCA2 Amyotrophic Lateral Sclerosis 13 Spinocerebellar Degeneration With Slow Eye Movements SDSEM Spinocerebellar Atrophy Ii Olivopontocerebellar Atrophy Ii Opca2 Cerebellar Degeneration With Slow Eye Movements Wadia-Swami Syndrome Amyotrophic Lateral Sclerosis Type 13 ALS13 Olivopontocerebellar Atrophy Holguin Type Spinocerebellar Ataxia Cuban Type Olivopontocerebellar Atrophy, Holguin Type Spinocerebellar Ataxia, Cuban Type Amyotrophic Lateral Sclerosis, Susceptibility To, 13 Olivopontocerebellar Atrophy 2 Sca 2 Spinocerebellar Ataxia With Slow Eye Movements Spinocerebellar Atrophy 2 Wadia Swami Syndrome Opca Ii Spinocerebellar Ataxia-2 Ataxia, Spinocerebellar, Type 2
Neurodegeneration With Brain Iron Accumulation 3	Neuroferritinopathy NBIA3 Ferritin-Related Neurodegeneration Hereditary Ferritinopathy Basal Ganglia Disease, Adult-Onset Adult Basal Ganglia Disease Neuroferritinopathy Basal Ganglia Disease, Adult-Onset Basal Ganglia Disease Adult-Onset Adult-Onset Basal Ganglia Disease Neurodegeneration, With Brain Iron Accumulation, Type 3
Spinocerebellar Ataxia 36	Spinocerebellar Ataxia Type 36 SCA36 Asidan Ataxia Costa De Morte Ataxia Asidan Ataxia, Spinocerebellar, Type 36
Choreatic Disease	Chorea Hereditary Chorea
Myotonic Dystrophy 2	Myotonic Dystrophy Type 2 Proximal Myotonic Myopathy Promm Ricker Syndrome DM2 Dystrophia Myotonica 2 Myotonic Myopathy, Proximal Myotonic Disorders Dystrophia Myotonica Type 2 Proximal Myotonic Dystrophy Ricker Disease Myotonic Dystrophy, Type 2 Dystrophy, Myotonic, Type 2
Spinocerebellar Ataxia 8	Spinocerebellar Ataxia Type 8 SCA8 Ataxia, Spinocerebellar, Type 8
Fragile X-Associated Tremor/Ataxia Syndrome	Fxtas Syndrome Fragile X Tremor/Ataxia Syndrome Fxtas
Spinocerebellar Ataxia 10	Spinocerebellar Ataxia Type 10 SCA10 Spinocerebellar Ataxia-10 Ataxia, Spinocerebellar, Type 10
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Familial Adult Myoclonic Epilepsy	Benign Adult Familial Myoclonus Epilepsy Bafme Benign Adult Familial Myoclonic Epilepsy Fame Familial Cortical Myoclonic Tremor And Epilepsy Fcmte Adcme Autosomal Dominant Cortical Myoclonus And Epilepsy Fam Epilepsy, Myoclonic, Familial Adult Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Myotonic Dystrophy 1	Myotonic Dystrophy Dystrophia Myotonica Steinert Disease Myotonic Dystrophy Type 1 Myotonia Atrophica DM1 Congenital Myotonic Dystrophy Myotonia Dystrophica Steinert Myotonic Dystrophy Dystrophia Myotonica 1 Dm Steinert'S Disease Steinert Myotonic Dystrophy Syndrome Myotonic Dystrophy Of Steinert Dystrophia Myotonica Type 1 Myotonic Dystrophy Congenital Dystrophy, Myotonic, Type 1 Dm - [Dystrophia Myotonica] Myotonic Muscular Dystrophy
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Kennedy Disease Sbma Spinal And Bulbar Muscular Atrophy Kennedy'S Disease X-Linked Spinal And Bulbar Muscular Atrophy SMAX1 Kd Kennedy Spinal And Bulbar Muscular Atrophy Spinobulbar Muscular Atrophy Bulbospinal Muscular Atrophy, X-Linked Bulbospinal Neuronopathy, X-Linked Recessive Xbsn Spinal And Bulbar Muscular Atrophy Of Kennedy Bulbospinal Muscular Atrophy X-Linked Bulbospinal Amyotrophy Bulbo-Spinal Atrophy, X-Linked Spinal Bulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-Linked Spinal Bulbar Muscular Atrophy X-Linked Bsma X-Linked Bulbospinal Muscular Atrophy Spinal And Bulbar Muscular Atrophy X-Linked 1 Bulbospinal Muscular Atrophy X-Linked Bulbospinal Neuronopathy X-Linked Recessive Kennedy Disease) Kennedy Syndrome Atrophy, Muscular, Spinal And Bulbar, Kennedy Type Atrophy, Muscular, Spinobulbar Bulbospinal Neuronopathy
Neurodegeneration With Brain Iron Accumulation	Nbia Neurodegeneration With Brain Iron Accumulation Disorders Neurodegeneration, With Brain Iron Accumulation
Developmental And Epileptic Encephalopathy 1	Epileptic Encephalopathy, Early Infantile, 1 Infantile Epileptic-Dyskinetic Encephalopathy DEE1 Eiee1 Issx1 Xmesid X-Linked Infantile Spasm Syndrome 1 X-Linked Infantile Spasm Syndrome X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome Developmental And Epileptic Encephalopathy, 1 Infantile Epileptic Dyskinetic Encephalopathy Infantile Spasm Syndrome, X-Linked 1 West Syndrome, X-Linked Ohtahara Syndrome, X-Linked Early Infantile Epileptic Encephalopathy 1 Early Infantile Epileptic Encephalopathy-1 Issx X-Linked Ohtahara Syndrome X-Linked West Syndrome Infantile Spasm Syndrome X-Linked 1 Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity Ohtahara Syndrome X-Linked West Syndrome X-Linked Encephalopathy, Epileptic, Early Infantile, Type 1
Spinocerebellar Ataxia 1	Spinocerebellar Ataxia Type 1 SCA1 Olivopontocerebellar Atrophy I Opca1 Opca4 Menzel Type Opca Schut-Haymaker Type Opca Spinocerebellar Atrophy I Opca I Olivopontocerebellar Atrophy Iv Opca Iv Cerebelloparenchymal Disorder I Cpd1 Olivopontocerebellar Atrophy 1 Cerebelloparenchymal Disorder 1 Olivopontocerebellar Atrophy 4 Spinocerebellar Atrophy 1 Type 1 Spinocerebellar Ataxia Spinocerebellar Ataxia-1 Ataxia, Spinocerebellar, Type 1
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07047	JPH3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	JPH3	VGNC	VGNC:42195
Mus musculus	JPH3	MGD	MGI:1891497
Macaca mulatta	JPH3	VGNC	VGNC:104734
Felis catus	JPH3	VGNC	VGNC:63012
Bos taurus	JPH3	VGNC	VGNC:30382
Rattus norvegicus	JPH3	RGD	RGD:1308416
Others	JPH3	NCBI