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FLASH GENE

Symbol

JPH3

contributors: npt/mct - updated : 11-03-2009

HGNC name	junctophilin 3
HGNC id	14203

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HDL2 Huntington disease -like 2
Location	16q24.3      Physical location : 87.636.498 - 87.731.759
Synonym name	trinucleotide repeat containing 22
Synonym symbol(s)	JP3, TNRC22, CAGL237, HDL2, FLJ44707

DNA

TYPE	functioning gene
STRUCTURE	95.26 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

motif	repetitive sequence   triplet
text structure	triplet repeat between exons 1 and 2

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed JPH3 5 - 3997 81.3 748 - Yamazaki (2008)

EXPRESSION

Type

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 Nervous brain diencephalon hypothalamus     Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective         Epithelial barrier/lining retinal pigment epithelium (RPE)

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

eye

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

C terminal hydrophobic segment spanning the ER/SR membrane and a remaining cytoplasmic domain that shows affinity to the plasma membrane

HOMOLOGY

interspecies

homolog to murine Jph3

Homologene

FAMILY

junctophilin gene family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION	mediating cross-talk between cell surface and endoplasmic reticulum
	involved in the formation of junctional membrane structures

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)

HDL2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS