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FLASH GENE

Symbol

GJD2

contributors: mct/shn - updated : 09-02-2010

HGNC name	gap junction protein, delta 2, 36kDa
HGNC id	19154

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020660 2 - 966 NP_065711 36 321 . predominantly in neurons . in ganglion cell and cone and rod gap jonctions in retina 2007 17828386

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 Endocrine pancreas         Nervous brain       specific Olfactory (smell) olfactory bulb       highly Visual eye retina     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...) Nervous microglia Homo sapiens Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

two cytoplasmic CAMK2A binding sequences

mono polymer

hexamer

HOMOLOGY

interspecies	ortholog to Gjd2, Mus musculus
	ortholog to Gjd2, Rattus norvegicus
	ortholog to GJD2, Pan troglodytes

Homologene

FAMILY	connexin family
	delta-type subfamily

CATEGORY

adhesion , transport channel

SUBCELLULAR LOCALIZATION

plasma membrane,junction,gap

basic FUNCTION	contributing to control function of insulin-producing cells
	critical for the generation of widespread, synchronous inhibitory activity
	essential for transmission of rod-mediated visual signals in the mammalian retina
	implicated in intercellular coupling occuring between neuronal and microglial populations
	GJD2 signalling significantly contributes to the modulation of insulin secretion
	a native protein of human pancreatic islets, which mediates the coupling of the insulin-producing beta-cells, and contributes to control beta-cell function by modulating gene expression

CELLULAR PROCESS

cell communication

PHYSIOLOGICAL PROCESS

cell to cell transport

PATHWAY

metabolism

signaling

a component	associated in groups of six and organized radially around a central pore to form connexons
	each gap junction intercellular channel is formed by the conjunction of two connexons

INTERACTION

DNA

RNA

small molecule

protein

interacts with and is phosphorylated by CAMK2A in a way similar to CAMK2A phosphorylation of glutamate receptors

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to juvenile myoclonic epilepsy (JME)

Variant & Polymorphism other	allelic and genotypic association with JME

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

in connexin36 knockout mice rod–cone gap junctions are disrupted