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FLASH GENE

Symbol

JPH2

contributors: mct - updated : 24-08-2009

HGNC name	junctophilin 2
HGNC id	14202

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	20q13.12      Physical location : 42.740.336 - 42.816.218
Synonym symbol(s)	JP2, JP-2, FLJ40969

DNA

TYPE	functioning gene
STRUCTURE	75.88 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 6 - 4802 74.2 696 - Nishi (2000) variant 2 2 - 2408 - 129 - Nishi (2000)

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       specific Digestive intestine large intestine colon     Reproductive female system breast mammary gland       male system testis

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac     Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	C terminal hydrophobic segment spanning the ER/SR membrane
	remaining cytoplasmic domain that shows affinity to the plasma membrane
	eight MORN repeats

HOMOLOGY

interspecies

ortholog to murine Jph2

Homologene

FAMILY

junctophilin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	in the endo/sarcoplasmic reticulum

basic FUNCTION	mediating cross-talk between cell surface and endoplasmic reticulum
	play essential roles in cellular Ca2+ signaling in excitable cells
	form junctional membrane complexes between the plasma membrane and the endo/sarcoplasmic reticulum in excitable cells (Yamazaki 2009)

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of the junctional membrane complexes

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to hypertrophic cardiomyopathy

Variant & Polymorphism other	mutation increasing the risk of hypertrophic cardiomyopathy (S101R, Y141H and S165F, which localize to key functional domains) (Landstrom 2007)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

JPH2 knockout mice showed disrupted calcium transients, altered junctional membrane complex formation, cardiomyopathy, and embryonic lethality (Landstrom 2007)