JPH3

GENERAL INFORMATION

? »

Gene name

JPH3

Gene description

Junctophilin 3

Protein class

Disease related genes
Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

1
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Tissue enriched (cerebral cortex)
GTEx:Group enriched (cerebellum, cerebral cortex, hippocampus)

Protein evidence

Evidence at protein level

ANTIBODY RELIABILITY

? »

Data reliability

Pending normal tissue annotation.
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A


PROTEIN EXPRESSION OVERVIEW

? »
Pending normal tissue annotation.


RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Tissue enriched (cerebral cortex)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (cerebellum, cerebral cortex, hippocampus)

Organ

Expression



GENE INFORMATION

? »

Gene name

JPH3 (HGNC Symbol)

Synonyms

CAGL237, HDL2, JP-3, JP3, TNRC22

Description

Junctophilin 3 (HGNC Symbol)

Entrez gene 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 expansions at the Huntington's disease (HD)-like 2 locus have been identified in this gene, which is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012]

Chromosome

16

Cytoband

q24.2

Chromosome location (bp)

87601835 - 87698156

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000154118 (version 78.38)

Entrez gene

57338

UniProt

Q8WXH2 (UniProt - Evidence at protein level)

neXtProt

NX_Q8WXH2

Antibodypedia

JPH3 antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000284262
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

JPH3-001 ENSP00000284262
ENST00000284262
Q8WXH2
Show all »
Show » Show » 748 81.5 No 1