JPH3 (junctophilin 3)

2014-08-01 Affiliation

Identity

HGNC

JPH3

LOCATION

16q24.2

LOCUSID

57338

ALIAS

CAGL237,HDL2,JP-3,JP3,TNRC22

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 57338
MIM: 605268
HGNC: 14203
Ensembl: ENSG00000154118

Variants:

dbSNP: 57338
ClinVar: 57338
TCGA: ENSG00000154118
COSMIC: JPH3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000154118	ENST00000284262	Q8WXH2

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

References

Pubmed ID	Year	Title	Citations
36273396	2023	Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder.	0
36273396	2023	Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder.	0
35089322	2022	Junctophilins 1, 2, and 3 all support voltage-induced Ca2+ release despite considerable divergence.	7
35089322	2022	Junctophilins 1, 2, and 3 all support voltage-induced Ca2+ release despite considerable divergence.	7
28656064	2017	Epigenomic and Functional Characterization of Junctophilin 3 (JPH3) as a Novel Tumor Suppressor Being Frequently Inactivated by Promoter CpG Methylation in Digestive Cancers.	10
28656064	2017	Epigenomic and Functional Characterization of Junctophilin 3 (JPH3) as a Novel Tumor Suppressor Being Frequently Inactivated by Promoter CpG Methylation in Digestive Cancers.	10
27336719	2016	Junctophilin 3 expresses in pancreatic beta cells and is required for glucose-stimulated insulin secretion.	23
27400454	2016	Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.	21
27336719	2016	Junctophilin 3 expresses in pancreatic beta cells and is required for glucose-stimulated insulin secretion.	23
27400454	2016	Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.	21
26079385	2015	Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.	15
26079385	2015	Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.	15
22367996	2012	Loss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesis.	49
22447335	2012	JPH3 repeat expansions cause a progressive akinetic-rigid syndrome with severe dementia and putaminal rim in a five-generation African-American family.	11
22367996	2012	Loss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesis.	49

Citation

Dessen P

JPH3 (junctophilin 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54390/case-report-explorer/haematological-explorer/css/card-gene.css