JPH3

GENE INFORMATION

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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 (Chromosome progress)

Cytoband

q24.2

Chromosome location (bp)

87635441 - 87731762

Ensembl

ENSG00000154118 (version 73.37)

Entrez gene

57338

UniProt

Q8WXH2 (UniProt - Evidence at protein level)

neXtProt

NX_Q8WXH2

Antibodypedia

JPH3 antibodies
 

PROTEIN VIEW

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JPH3-001
 
 
 
 
 

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)

JPH3-001 ENSP00000284262
ENST00000284262
Q8WXH2
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