Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | GJB6 | contributors: mct - updated : 06-01-2011 |
HGNC name | gap junction protein, beta 6, 30kDa |
HGNC id | 4288 |
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Corresponding disease |
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Location | 13q12.11 Physical location : 20.796.101 - 20.806.534 | ||||||||
Synonym name | |||||||||
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Synonym symbol(s) | CX30, EDH, HED |
DNA |
TYPE | functioning gene |
STRUCTURE | 10.43 kb 5 Exon(s) |
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10 Kb 5' upstream gene genomic sequence study |
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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 |
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EXPRESSION |
Type |
expressed in | (based on citations) | ||||||||||||||||||||
organ(s) |
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tissue |
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cells |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
physiological period | fetal |
Text | cochlea |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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motifs/domains
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mono polymer | hexamer |
HOMOLOGY |
interspecies | homolog to murine Cx30/Gjb6 |
homolog to C.elegans ZK1307.1 |
intraspecies | homolog to GJB2 |
Homologene |
FAMILY | |
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CATEGORY | transport channel |
SUBCELLULAR LOCALIZATION
| plasma membrane,junction,gap |
CELLULAR PROCESS | cell communication |
PHYSIOLOGICAL PROCESS | cell to cell transport |
PATHWAY |
metabolism |
signaling | sensory transduction/hearing |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
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
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Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |