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FLASH GENE

Symbol

GJB3

contributors: np - updated : 02-05-2006

HGNC name	gap junction protein, beta 3, 31kDa
HGNC id	4285

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DFNAC neurosensory deafness, witn abnormal connexin 31 EKV erythrokeratodermia variabilis et progressiva PNHI peripheral neuropathy
Location	1p34.3      Physical location : 35.246.789 - 35.251.966
Synonym name	gap junction protein, beta 3, 31kDa (connexin 31)
	connexin 31
Synonym symbol(s)	CX31, DFNA2, PNHI, DFNA2B, MGC102938, FLJ22486

DNA

TYPE	functioning gene
STRUCTURE	5.18 kb     2 Exon(s)    single Copie(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_024009 2 - 2220 NP_076872 30.8 270 - 2005 16297190 NM_001005752 2 - 1777 NP_001005752 30.8 270 - 2005 16297190

EXPRESSION

Type

widely

constitutive of

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       highly Digestive pharynx       highly Hearing/Equilibrium ear inner cochlea     Reproductive female system uterus cervix   highly   female system ovary     highly Skin/Tegument skin

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining epidermis stratum spinosum moderately Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Epithelial sensory stato-auditory     Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument keratinocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four hydrophobic transmembrane segments separating the N terminal intracellular domain
	two extracellular loops
	a C terminal intracellular domain, conserved arrangement of three cysteine residues in each extracellular loop
	three potential phosphorylation sites

HOMOLOGY

interspecies

homolog to murine Gjb3

Homologene

FAMILY	connexin family
	beta-type groupe 1 subfamily

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
text	cytoplasmic localization of the mutant proteins

basic FUNCTION	playing a role in synchronized cellular response to a variety of intercellular signals by regulating the diffusion of small molecules between the cytoplasm and adjacent cells
	playing a role in enhancing neurite outgrowth, a key feature of neuronal differentiation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

PATHWAY

metabolism

signaling

sensory transduction/hearing

a component

monomer constituent of the connexon (six subunits)

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DFNAC , EKV , PNHI

related resource

The Connexin-deafness homepage Hereditary Hearing Loss Homepage

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS