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FLASH GENE

Symbol

GJB6

contributors: mct - updated : 06-01-2011

HGNC name	gap junction protein, beta 6, 30kDa
HGNC id	4288

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DFNA3 neurosensory deafness 3 DFNB1 neurosensory deafness 1 ED2 ectodermal dysplasia 2, hidrotic KID2 keratitis-ichthyosis-deafness syndrome 2
Location	13q12.11      Physical location : 20.796.101 - 20.806.534
Synonym name	gap junction protein, beta 6 (connexin 30)
	connexin 30
Synonym symbol(s)	CX30, EDH, HED

DNA

TYPE	functioning gene
STRUCTURE	10.43 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	a basal promoter sequence active in a human keratinocyte cell line which responds to the activation of the EGF receptor

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D13S141 - D13S175 - D13S115 - D13S292 - D13S283 - GJB6 - GJB2 - D13S809 - D13S243 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006783 3 - 2110 NP_006774 - 261 - - NM_001110221 3 - 1944 NP_001103691 - 261 - - NM_001110220 4 - 2068 NP_001103690 - 261 - - NM_001110219 5 - 2178 NP_001103689 - 261 - -

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 Hearing/Equilibrium ear inner cochlea     Homo sapiens Adult

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial sensory stato-auditory

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument epidermal secretory cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

cochlea

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four putative membrane spanning alpha helices (TM4), separating the N terminal intracellular domain
	two extracellular loops
	a C terminal intracellular domain

mono polymer

hexamer

HOMOLOGY

interspecies	homolog to murine Cx30/Gjb6
	homolog to C.elegans ZK1307.1

intraspecies

homolog to GJB2

Homologene

FAMILY	beta-type (group I) subfamily
	connexin family
	beta-type (group I) subfamily

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

plasma membrane,junction,gap

basic FUNCTION	having a role in intercellular transport and communication
	required both for producing endocochlear potential and for the survival of hair cells in the mature cochlea
	involved in the paracrine signaling within the epidermis
	play an important role in cell-to-cell communication
	play a crucial role in inner ear Ca2+ signaling: as hemichannels, they promote ATP release, sustaining long-range intercellular Ca2+ signals propagation
	both GJB2 and GJB6 play essential roles in normal cochlear functions
	GJB2, and GJB6 have dramatically different temporal and cellular expression patterns during early postnatal cochlear development
	functional role of GJC2 and GJB6 for interastrocytic, interoligodendrocytic, and panglial coupling, and both connexins are required for maintenance of myelin

CELLULAR PROCESS

cell communication

PHYSIOLOGICAL PROCESS

cell to cell transport

PATHWAY

metabolism

signaling

sensory transduction/hearing

a component

component of connexons composed of a hexamer of connexins

INTERACTION

DNA

RNA

small molecule

protein	interacting with GJB2
	GJB2 plays an essential role in the development of the auditory sensory epithelium and its unique developmental functions required for normal hearing is not replaceable by GJB6

cell & other

REGULATION

Other

regulated by a Ca2+-dependent control in the expression of inner ear connexins implicated in hereditary deafness GJB2 and GJB6

ASSOCIATED DISORDERS

corresponding disease(s)

DFNA3 , ED2 , DFNB1 , KID2

related resource

Hereditary Hearing Loss Homepage The Connexin-deafness homepage

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS