InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: JPH2

Summary

InnateDB Gene

IDBG-76300.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

JPH2

Gene Name

junctophilin 2

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000149596

Encoded Proteins

IDBP-76302

junctophilin 2

IDBP-76304

junctophilin 2

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 20:44111695-44187578

Strand

Reverse strand

Band

q13.12

Transcripts

ENST00000372980	ENSP00000362071
ENST00000342272	ENSP00000344590

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	3 [view]
Protein-Protein	2 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001786	phosphatidylserine binding
GO:0005515	protein binding
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding
GO:0005547	phosphatidylinositol-3,4,5-trisphosphate binding
GO:0010314	phosphatidylinositol-5-phosphate binding
GO:0015278	calcium-release channel activity
GO:0032266	phosphatidylinositol-3-phosphate binding
GO:0070273	phosphatidylinositol-4-phosphate binding
GO:0070300	phosphatidic acid binding
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding

Biological Process

GO:0007204	positive regulation of cytosolic calcium ion concentration
GO:0055024	regulation of cardiac muscle tissue development
GO:0055074	calcium ion homeostasis
GO:0060314	regulation of ryanodine-sensitive calcium-release channel activity
GO:0060316	positive regulation of ryanodine-sensitive calcium-release channel activity
GO:0060402	calcium ion transport into cytosol
GO:0070588	calcium ion transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0014701	junctional sarcoplasmic reticulum membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016529	sarcoplasmic reticulum
GO:0030018	Z disc
GO:0030314	junctional membrane complex

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000017817

View Gene Order

ENSBTAG00000023002

Not yet available

Cross-References

SwissProt

Q9BR39

TrEMBL

UniProt Splice Variant

Entrez Gene

57158

UniGene

Hs.441737

RefSeq

NM_175913 NM_020433 XM_006723832 XM_006723833

HUGO

HGNC:14202

OMIM

605267

CCDS

CCDS13326 CCDS13325

HPRD

12006

IMGT

EMBL

AL034419 AL035447 AL132999 CH471077

GenPept

CAB61347 CAC18785 CAI19380 CAI42199 EAW75940 EAW75943

RNA Seq Atlas

57158