JPH4 (junctophilin 4)

2014-11-01  

Identity

HGNC
JPH4
LOCATION
14q11.2
LOCUSID
84502
ALIAS
JP4,JPHL1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84502
HGNC: 20156
Ensembl: ENSG00000092051

Variants:

dbSNP: 84502
ClinVar: 84502
TCGA: ENSG00000092051
COSMIC: JPH4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000092051ENST00000356300Q96JJ6
ENSG00000092051ENST00000397118Q96JJ6
ENSG00000092051ENST00000544177F5H1L9
ENSG00000092051ENST00000622501A0A087WWT0

Expression (GTEx)

0
50
100
150
200
250
300
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 IDYearTitleCitations
145593592003Coexpression of junctophilin type 3 and type 4 in brain.27
190950052009New molecular components supporting ryanodine receptor-mediated Ca(2+) release: roles of junctophilin and TRIC channel in embryonic cardiomyocytes.10

Citation

Dessen P

JPH4 (junctophilin 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64726/jph4