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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
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Mixed
HPA (cell line):Cell line enhanced (MCF7, NTERA-2, SH-SY5Y, SiHa, U-2 OS)
HPA (normal tissue):Tissue enriched (cerebral cortex)

Protein evidence

 Evidence at protein level

ANTIBODY IHC RELIABILITY

Reliability score

 Pending cancer tissue analysis.

PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Mixed

PROTEIN EXPRESSION

Pending cancer tissue analysis

STAINING SUMMARY

 

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 83.38)

Entrez gene

 57338

UniProt

 Q8WXH2 (UniProt - Evidence at transcript level)

neXtProt

 NX_Q8WXH2

Antibodypedia

 JPH3 antibodies

PROTEIN BROWSER
JPH3-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
JPH3-001
ENSP00000284262
ENST00000284262
Q8WXH2 [Direct mapping]
Junctophilin-3
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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Protein evidence (Kim et al 2014)
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GO:0003674 [molecular_function]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005886 [plasma membrane]
GO:0007612 [learning]
GO:0007613 [memory]
GO:0014701 [junctional sarcoplasmic reticulum membrane]
GO:0015278 [calcium-release channel activity]
GO:0016021 [integral component of membrane]
GO:0030314 [junctional membrane complex]
GO:0035640 [exploration behavior]
GO:0040011 [locomotion]
GO:0048168 [regulation of neuronal synaptic plasticity]
GO:0050885 [neuromuscular process controlling balance]
GO:0060314 [regulation of ryanodine-sensitive calcium-release channel activity]
GO:0060402 [calcium ion transport into cytosol]
GO:0070588 [calcium ion transmembrane transport]
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 748 aa
81.5 kDa 		No 1

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.