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FLASH GENE

Symbol

GJA3

contributors: mct/npt/shn - updated : 04-06-2012

HGNC name	gap junction protein, alpha 3, 46kDa
HGNC id	4277

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	22.79 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D13S1316 - GJA3 - D13S175 - D13S1236 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed GJA3 2 - 5219 42.3 435 - Guleria (2007)

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 Urinary kidney         Visual eye lens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four putative membrane spanning alpha helices, separating the N terminal intracellular domain
	two extracellular loops
	a C terminal intracellular domain

HOMOLOGY

interspecies	ortholog to Gja3,Mus musculus
	ortholog to Gja3, Rattus norvegicus
	ortholog to gja3, Danio rerio
	ortholog to GJA3, Pan troglodytes

Homologene

FAMILY	connexin family
	alpha-type (group II) subfamily

CATEGORY

regulatory , structural protein , transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	gap junction protein, water channel properties
	playing a vital role in the maintenance of lens transparency
	fiber cell gap junction protein regulated by protein kinase Cgamma (PRKCG) (Lin 2004)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cell to cell transport

PATHWAY

metabolism

signaling

sensory transduction/hearing , sensory transduction/vision

a component	monomer constituent of the connexon (six subunits, including GJA3, GJA8, GJB1, GJB2), docking with its counterpart in the neighboring cell to form the gap junction channel
	major intrinsic protein constituent of lens fiber

INTERACTION

DNA

RNA

small molecule

protein	connexin43, Cx43 (
	ZO-1 (
	PKCgamma and Cav-1 (

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CZP3

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	mice homozygous for the disrupted alpha3 gene developed nuclear cataracts that were associated with the proteolysis of crystallins (
	Targeted null mutations in Gja3 in mice cause cataracts with recessive inheritance (
	double mutant offspring between Lop10 and the Gja3(tm1) (alpha 3(-/-)) mice showed relatively normal lens cortical fibers (