JPH2

GENERAL INFORMATION

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Gene name

JPH2

Gene description

Junctophilin 2

Protein class

Disease related genes
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (skeletal muscle)
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

Intercalated disc in myocardium displayed strong immunoreactivity. Most normal tissues showed weak to moderate cytoplasmic and/or nuclear positivity. Lymphoid tissues, lung, renal glomeruli, squamous epithelium, glial cells and soft tissues were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA052646
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (skeletal muscle)

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



GENE INFORMATION

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Gene name

JPH2 (HGNC Symbol)

Synonyms

JP-2

Description

Junctophilin 2 (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. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008]

Chromosome

20

Cytoband

q13.12

Chromosome location (bp)

44111695 - 44187578

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000149596 (version 78.38)

Entrez gene

57158

UniProt

Q9BR39 (UniProt - Evidence at protein level)

neXtProt

NX_Q9BR39

Antibodypedia

JPH2 antibodies


PROTEIN BROWSER

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ENST00000342272
 
ENST00000372980
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

JPH2-001 ENSP00000362071
ENST00000372980
Q9BR39
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Show » Show » 696 74.2 No 1
JPH2-002 ENSP00000344590
ENST00000342272
Q9BR39
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Show » Show » 129 14 No 0