Symbol:
Gjb3
Name:
gap junction protein, beta 3
RGD ID:
2695
Description:
Predicted to enable gap junction channel activity. Involved in several processes, including cellular response to retinoic acid; in utero embryonic development; and spermatogenesis. Located in gap junction. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 2B; autosomal recessive nonsyndromic deafness 1A; colorectal adenocarcinoma; erythrokeratodermia variabilis; and erythrokeratodermia variabilis et progressiva 1. Orthologous to human GJB3 (gap junction protein beta 3); INTERACTS WITH alpha-Zearalanol; ammonium chloride; benzo[a]pyrene.
Type:
protein-coding
RefSeq Status:
VALIDATED
Previously known as:
connexin c; connexin-31; cx31; Cxnc; gap junction beta-3 protein; gap junction membrane channel protein beta 3
RGD Orthologs
Alliance Orthologs
More Info
more info ...
More Info
Species
Gene symbol and name
Data Source
Assertion derived from
less info ...
Orthologs 1
Homo sapiens (human):
GJB3 (gap junction protein beta 3) HGNC
EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Mus musculus (house mouse):
Gjb3 (gap junction protein, beta 3) Transitive Ortholog Pipeline
Transitive Ortholog Pipeline
Chinchilla lanigera (long-tailed chinchilla):
Gjb3 (gap junction protein beta 3) Transitive Ortholog Pipeline
Transitive Ortholog Pipeline
Pan paniscus (bonobo/pygmy chimpanzee):
GJB3 (gap junction protein beta 3) Transitive Ortholog Pipeline
Transitive Ortholog Pipeline
Canis lupus familiaris (dog):
GJB3 (gap junction protein beta 3) Transitive Ortholog Pipeline
Transitive Ortholog Pipeline
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):
Gjb3 (gap junction protein beta 3) Transitive Ortholog Pipeline
Transitive Ortholog Pipeline
Sus scrofa (pig):
GJB3 (gap junction protein beta 3) Transitive Ortholog Pipeline
Transitive Ortholog Pipeline
Chlorocebus sabaeus (green monkey):
GJB3 (gap junction protein beta 3) Transitive Ortholog Pipeline
Transitive Ortholog Pipeline
Heterocephalus glaber (naked mole-rat):
Gjb3 (gap junction protein beta 3) Transitive Ortholog Pipeline
Transitive Ortholog Pipeline
Alliance orthologs 3
Mus musculus (house mouse):
Gjb3 (gap junction protein, beta 3)
Alliance
DIOPT (Ensembl Compara|Hieranoid|InParanoid|OMA|OrthoFinder|OrthoInspector|PANTHER|PhylomeDB|SonicParanoid)
Homo sapiens (human):
GJB3 (gap junction protein beta 3)
Alliance
DIOPT (Ensembl Compara|HGNC|Hieranoid|InParanoid|OMA|OrthoFinder|OrthoInspector|PANTHER|PhylomeDB|SonicParanoid)
Danio rerio (zebrafish):
cx35.4 (connexin 35.4)
Alliance
DIOPT (Ensembl Compara|InParanoid|OMA|OrthoFinder|OrthoInspector|PANTHER|PhylomeDB|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):
gjb3
Alliance
DIOPT (Ensembl Compara|Hieranoid|InParanoid|OMA|OrthoFinder|OrthoInspector|PANTHER|PhylomeDB)
Latest Assembly:
GRCr8 - GRCr8 Assembly
Position:
Rat Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl GRCr8 5 144,933,692 - 144,939,435 (-) NCBI GRCr8 mRatBN7.2 5 139,649,227 - 139,654,970 (-) NCBI mRatBN7.2 mRatBN7.2 mRatBN7.2 Ensembl 5 139,649,195 - 139,654,980 (-) Ensembl mRatBN7.2 Ensembl UTH_Rnor_SHR_Utx 5 142,344,777 - 142,345,589 (-) NCBI Rnor_SHR UTH_Rnor_SHR_Utx UTH_Rnor_SHRSP_BbbUtx_1.0 5 144,114,766 - 144,115,578 (-) NCBI Rnor_SHRSP UTH_Rnor_SHRSP_BbbUtx_1.0 UTH_Rnor_WKY_Bbb_1.0 5 144,115,567 - 144,116,379 (-) NCBI Rnor_WKY UTH_Rnor_WKY_Bbb_1.0 Rnor_6.0 5 145,390,590 - 145,397,271 (-) NCBI Rnor6.0 Rnor_6.0 rn6 Rnor6.0 Rnor_6.0 Ensembl 5 145,391,311 - 145,392,123 (-) Ensembl Rnor6.0 rn6 Rnor6.0 Rnor_5.0 5 149,158,599 - 149,164,702 (-) NCBI Rnor5.0 Rnor_5.0 rn5 Rnor5.0 RGSC_v3.4 5 146,771,804 - 146,772,616 (-) NCBI RGSC3.4 RGSC_v3.4 rn4 RGSC3.4 RGSC_v3.1 5 146,781,842 - 146,782,655 (-) NCBI Celera 5 138,143,911 - 138,144,723 (-) NCBI Celera Cytogenetic Map 5 q36 NCBI
JBrowse:
View Region in Genome Browser (JBrowse)
Model
Only show annotations with direct experimental evidence (0 objects hidden)
Gjb3 Rat 1,1,1-trichloroethane increases expression ISO Gjb3 (Mus musculus) 6480464 1 more ... CTD PMID:25270620 Gjb3 Rat 1,2-dichloroethane decreases expression ISO Gjb3 (Mus musculus) 6480464 ethylene dichloride results in decreased expression of GJB3 mRNA CTD PMID:28960355 Gjb3 Rat 17beta-estradiol multiple interactions ISO GJB3 (Homo sapiens) 6480464 [Estradiol binds to ESR2 protein] which results in increased expression of GJB3 mRNA CTD PMID:20404318 Gjb3 Rat 17beta-hydroxy-5alpha-androstan-3-one decreases expression ISO Gjb3 (Mus musculus) 6480464 Dihydrotestosterone results in decreased expression of GJB3 mRNA CTD PMID:17023530 Gjb3 Rat 2,3,7,8-tetrachlorodibenzodioxine decreases expression ISO Gjb3 (Mus musculus) 6480464 Tetrachlorodibenzodioxin results in decreased expression of GJB3 mRNA CTD PMID:19933214 Gjb3 Rat 2,3,7,8-tetrachlorodibenzodioxine affects expression ISO Gjb3 (Mus musculus) 6480464 Tetrachlorodibenzodioxin affects the expression of GJB3 mRNA CTD PMID:21570461 Gjb3 Rat 4,4'-sulfonyldiphenol decreases expression ISO Gjb3 (Mus musculus) 6480464 bisphenol S results in decreased expression of GJB3 mRNA CTD PMID:30951980 Gjb3 Rat 4,4'-sulfonyldiphenol affects methylation ISO Gjb3 (Mus musculus) 6480464 bisphenol S affects the methylation of GJB3 gene CTD PMID:31683443 Gjb3 Rat 4-hydroxyphenyl retinamide increases expression ISO Gjb3 (Mus musculus) 6480464 Fenretinide results in increased expression of GJB3 mRNA CTD PMID:28973697 Gjb3 Rat 5-aza-2'-deoxycytidine decreases expression ISO Gjb3 (Mus musculus) 6480464 Decitabine results in decreased expression of GJB3 mRNA CTD PMID:19222872 Gjb3 Rat 5-aza-2'-deoxycytidine multiple interactions ISO GJB3 (Homo sapiens) 6480464 Decitabine inhibits the reaction [Smoke results in decreased expression of GJB3 mRNA] CTD PMID:21095227 Gjb3 Rat actinomycin D multiple interactions ISO GJB3 (Homo sapiens) 6480464 [Dactinomycin co-treated with nutlin 3] results in increased expression of GJB3 mRNA CTD PMID:38460933 Gjb3 Rat all-trans-retinoic acid multiple interactions ISO Gjb3 (Mus musculus) 6480464 [mono-(2-ethylhexyl)phthalate co-treated with Tretinoin] results in decreased expression of GJB3 mRNA CTD PMID:36189433 Gjb3 Rat alpha-Zearalanol multiple interactions EXP 6480464 [Zeranol co-treated with perfluorooctanoic acid] results in decreased expression of GJB3 mRNA CTD PMID:35163327 Gjb3 Rat ammonium chloride affects expression EXP 6480464 Ammonium Chloride affects the expression of GJB3 mRNA CTD PMID:16483693 Gjb3 Rat arsane affects methylation ISO GJB3 (Homo sapiens) 6480464 Arsenic affects the methylation of GJB3 gene CTD PMID:25304211 Gjb3 Rat arsane increases expression ISO Gjb3 (Mus musculus) 6480464 Arsenic results in increased expression of GJB3 mRNA CTD PMID:36720308 Gjb3 Rat arsenic atom affects methylation ISO GJB3 (Homo sapiens) 6480464 Arsenic affects the methylation of GJB3 gene CTD PMID:25304211 Gjb3 Rat arsenic atom increases expression ISO Gjb3 (Mus musculus) 6480464 Arsenic results in increased expression of GJB3 mRNA CTD PMID:36720308 Gjb3 Rat arsenous acid decreases response to substance ISO GJB3 (Homo sapiens) 6480464 GJB3 protein results in decreased susceptibility to Arsenic Trioxide CTD PMID:20707922 Gjb3 Rat benzo[a]pyrene decreases expression ISO GJB3 (Homo sapiens) 6480464 Benzo(a)pyrene results in decreased expression of GJB3 mRNA CTD PMID:31255691 Gjb3 Rat benzo[a]pyrene increases expression ISO GJB3 (Homo sapiens) 6480464 Benzo(a)pyrene results in increased expression of GJB3 mRNA CTD PMID:32234424 Gjb3 Rat benzo[a]pyrene decreases expression EXP 6480464 Benzo(a)pyrene results in decreased expression of GJB3 mRNA CTD PMID:34283317 Gjb3 Rat benzo[a]pyrene affects methylation ISO GJB3 (Homo sapiens) 6480464 Benzo(a)pyrene affects the methylation of GJB3 5' UTR CTD PMID:27901495 Gjb3 Rat benzo[a]pyrene decreases methylation ISO GJB3 (Homo sapiens) 6480464 Benzo(a)pyrene results in decreased methylation of GJB3 exon and Benzo(a)pyrene results in decreased methylation of GJB3 promoter CTD PMID:27901495 Gjb3 Rat beta-lapachone increases expression ISO GJB3 (Homo sapiens) 6480464 beta-lapachone results in increased expression of GJB3 mRNA CTD PMID:38218311 Gjb3 Rat bisphenol A increases expression EXP 6480464 bisphenol A results in increased expression of GJB3 mRNA CTD PMID:25181051 Gjb3 Rat bisphenol A increases expression ISO Gjb3 (Mus musculus) 6480464 bisphenol A results in increased expression of GJB3 mRNA CTD PMID:32156529 Gjb3 Rat bisphenol A decreases methylation ISO Gjb3 (Mus musculus) 6480464 bisphenol A results in decreased methylation of GJB3 promoter CTD PMID:27312807 Gjb3 Rat bisphenol A increases methylation ISO Gjb3 (Mus musculus) 6480464 bisphenol A results in increased methylation of GJB3 promoter CTD PMID:27312807 Gjb3 Rat cadmium atom multiple interactions ISO Gjb3 (Mus musculus) 6480464 [Cadmium Chloride results in increased abundance of Cadmium] which results in increased expression of GJB3 mRNA CTD PMID:37325564 Gjb3 Rat cadmium dichloride increases expression ISO Gjb3 (Mus musculus) 6480464 Cadmium Chloride results in increased expression of GJB3 mRNA CTD PMID:24982889 Gjb3 Rat cadmium dichloride multiple interactions ISO Gjb3 (Mus musculus) 6480464 [Cadmium Chloride results in increased abundance of Cadmium] which results in increased expression of GJB3 mRNA CTD PMID:37325564 Gjb3 Rat camptothecin increases expression ISO GJB3 (Homo sapiens) 6480464 Camptothecin results in increased expression of GJB3 mRNA CTD PMID:38460933 Gjb3 Rat carbon nanotube increases expression ISO Gjb3 (Mus musculus) 6480464 Nanotubes more ... CTD PMID:25554681 Gjb3 Rat CGP 52608 multiple interactions ISO GJB3 (Homo sapiens) 6480464 CGP 52608 promotes the reaction [RORA protein binds to GJB3 gene] CTD PMID:28238834 Gjb3 Rat cyclosporin A decreases expression ISO GJB3 (Homo sapiens) 6480464 Cyclosporine results in decreased expression of GJB3 mRNA CTD PMID:27989131 Gjb3 Rat DDE decreases expression ISO GJB3 (Homo sapiens) 6480464 Dichlorodiphenyl Dichloroethylene results in decreased expression of GJB3 mRNA CTD PMID:38568856 Gjb3 Rat dexamethasone decreases expression ISO Gjb3 (Mus musculus) 6480464 Dexamethasone results in decreased expression of GJB3 mRNA CTD PMID:22733784 Gjb3 Rat diarsenic trioxide decreases response to substance ISO GJB3 (Homo sapiens) 6480464 GJB3 protein results in decreased susceptibility to Arsenic Trioxide CTD PMID:20707922 Gjb3 Rat dibenzo[a,l]pyrene decreases expression ISO GJB3 (Homo sapiens) 6480464 dibenzo(a and l)pyrene results in decreased expression of GJB3 mRNA CTD PMID:31255691 Gjb3 Rat dioxygen multiple interactions ISO Gjb3 (Mus musculus) 6480464 [NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of GJB3 mRNA CTD PMID:30529165 Gjb3 Rat endosulfan increases expression EXP 6480464 Endosulfan results in increased expression of GJB3 mRNA CTD PMID:29391264 Gjb3 Rat ethylparaben increases expression ISO GJB3 (Homo sapiens) 6480464 ethyl-p-hydroxybenzoate results in increased expression of GJB3 mRNA CTD PMID:37690743 Gjb3 Rat fenvalerate increases expression EXP 6480464 fenvalerate results in increased expression of GJB3 mRNA CTD PMID:30307764 Gjb3 Rat furan increases expression EXP 6480464 furan results in increased expression of GJB3 mRNA CTD PMID:27387713 Gjb3 Rat genistein increases expression ISO Gjb3 (Mus musculus) 6480464 Genistein results in increased expression of GJB3 mRNA CTD PMID:32186404 Gjb3 Rat Heptachlor epoxide decreases expression ISO Gjb3 (Mus musculus) 6480464 Heptachlor Epoxide results in decreased expression of GJB3 mRNA CTD PMID:25270620 Gjb3 Rat lead(0) affects methylation ISO GJB3 (Homo sapiens) 6480464 Lead affects the methylation of GJB3 gene CTD PMID:31636367 Gjb3 Rat mono(2-ethylhexyl) phthalate decreases expression ISO Gjb3 (Mus musculus) 6480464 mono-(2-ethylhexyl)phthalate results in decreased expression of GJB3 mRNA CTD PMID:36189433 Gjb3 Rat mono(2-ethylhexyl) phthalate multiple interactions ISO Gjb3 (Mus musculus) 6480464 [mono-(2-ethylhexyl)phthalate co-treated with Tretinoin] results in decreased expression of GJB3 mRNA CTD PMID:36189433 Gjb3 Rat Muraglitazar decreases expression EXP 6480464 muraglitazar results in decreased expression of GJB3 mRNA CTD PMID:21515302 Gjb3 Rat N-Nitrosopyrrolidine increases expression ISO GJB3 (Homo sapiens) 6480464 N-Nitrosopyrrolidine results in increased expression of GJB3 mRNA CTD PMID:32234424 Gjb3 Rat naphthalene increases expression ISO Gjb3 (Mus musculus) 6480464 naphthalene results in increased expression of GJB3 mRNA CTD PMID:18978301 Gjb3 Rat Nutlin-3 multiple interactions ISO GJB3 (Homo sapiens) 6480464 [Dactinomycin co-treated with nutlin 3] results in increased expression of GJB3 mRNA CTD PMID:38460933 Gjb3 Rat ozone multiple interactions ISO Gjb3 (Mus musculus) 6480464 [Air Pollutants results in increased abundance of [Ozone co-treated with Soot]] which results in increased expression of GJB3 mRNA more ... CTD PMID:25658374 more ... Gjb3 Rat ozone increases expression ISO Gjb3 (Mus musculus) 6480464 Ozone results in increased expression of GJB3 mRNA CTD PMID:33026818 Gjb3 Rat paracetamol decreases expression EXP 6480464 Acetaminophen results in decreased expression of GJB3 mRNA CTD PMID:33387578 Gjb3 Rat paraquat increases expression EXP 6480464 Paraquat results in increased expression of GJB3 mRNA CTD PMID:32680482 Gjb3 Rat perfluorooctanoic acid multiple interactions EXP 6480464 [Zeranol co-treated with perfluorooctanoic acid] results in decreased expression of GJB3 mRNA CTD PMID:35163327 Gjb3 Rat permethrin increases expression ISO GJB3 (Homo sapiens) 6480464 Permethrin results in increased expression of GJB3 mRNA CTD PMID:37047231 Gjb3 Rat pirinixic acid multiple interactions ISO GJB3 (Homo sapiens) 6480464 [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of GJB3 mRNA CTD PMID:19710929 Gjb3 Rat progesterone decreases expression ISO Gjb3 (Mus musculus) 6480464 Progesterone results in decreased expression of GJB3 mRNA CTD PMID:22238285 Gjb3 Rat silicon dioxide increases expression ISO GJB3 (Homo sapiens) 6480464 Silicon Dioxide analog results in increased expression of GJB3 mRNA CTD PMID:25895662 Gjb3 Rat sodium arsenite decreases expression ISO GJB3 (Homo sapiens) 6480464 sodium arsenite results in decreased expression of GJB3 mRNA CTD PMID:38568856 Gjb3 Rat sodium arsenite increases expression ISO Gjb3 (Mus musculus) 6480464 sodium arsenite results in increased expression of GJB3 mRNA CTD PMID:37682722 Gjb3 Rat sotorasib multiple interactions ISO GJB3 (Homo sapiens) 6480464 [sotorasib co-treated with trametinib co-treated with NVP-BKM120] results in decreased expression of GJB3 mRNA CTD PMID:36139627 Gjb3 Rat Tesaglitazar decreases expression EXP 6480464 tesaglitazar results in decreased expression of GJB3 mRNA CTD PMID:21515302 Gjb3 Rat thiram decreases expression ISO GJB3 (Homo sapiens) 6480464 Thiram results in decreased expression of GJB3 mRNA CTD PMID:38568856 Gjb3 Rat titanium dioxide increases expression ISO Gjb3 (Mus musculus) 6480464 titanium dioxide results in increased expression of GJB3 mRNA CTD PMID:27760801 Gjb3 Rat titanium dioxide decreases methylation ISO Gjb3 (Mus musculus) 6480464 titanium dioxide results in decreased methylation of GJB3 gene CTD PMID:35295148 Gjb3 Rat trametinib multiple interactions ISO GJB3 (Homo sapiens) 6480464 [sotorasib co-treated with trametinib co-treated with NVP-BKM120] results in decreased expression of GJB3 mRNA CTD PMID:36139627 Gjb3 Rat troglitazone decreases expression EXP 6480464 troglitazone results in decreased expression of GJB3 mRNA CTD PMID:21515302 Gjb3 Rat valproic acid decreases expression ISO Gjb3 (Mus musculus) 6480464 Valproic Acid results in decreased expression of GJB3 mRNA CTD PMID:19136453 and PMID:21427059
1,1,1-trichloroethane (ISO) 1,2-dichloroethane (ISO) 17beta-estradiol (ISO) 17beta-hydroxy-5alpha-androstan-3-one (ISO) 2,3,7,8-tetrachlorodibenzodioxine (ISO) 4,4'-sulfonyldiphenol (ISO) 4-hydroxyphenyl retinamide (ISO) 5-aza-2'-deoxycytidine (ISO) actinomycin D (ISO) all-trans-retinoic acid (ISO) alpha-Zearalanol (EXP) ammonium chloride (EXP) arsane (ISO) arsenic atom (ISO) arsenous acid (ISO) benzo[a]pyrene (EXP,ISO) beta-lapachone (ISO) bisphenol A (EXP,ISO) cadmium atom (ISO) cadmium dichloride (ISO) camptothecin (ISO) carbon nanotube (ISO) CGP 52608 (ISO) cyclosporin A (ISO) DDE (ISO) dexamethasone (ISO) diarsenic trioxide (ISO) dibenzo[a,l]pyrene (ISO) dioxygen (ISO) endosulfan (EXP) ethylparaben (ISO) fenvalerate (EXP) furan (EXP) genistein (ISO) Heptachlor epoxide (ISO) lead(0) (ISO) mono(2-ethylhexyl) phthalate (ISO) Muraglitazar (EXP) N-Nitrosopyrrolidine (ISO) naphthalene (ISO) Nutlin-3 (ISO) ozone (ISO) paracetamol (EXP) paraquat (EXP) perfluorooctanoic acid (EXP) permethrin (ISO) pirinixic acid (ISO) progesterone (ISO) silicon dioxide (ISO) sodium arsenite (ISO) sotorasib (ISO) Tesaglitazar (EXP) thiram (ISO) titanium dioxide (ISO) trametinib (ISO) troglitazone (EXP) valproic acid (ISO)
1.
Molecular profiling and cellular localization of connexin isoforms in the rat ciliary epithelium.
Coffey KL, etal., Exp Eye Res. 2002 Jul;75(1):9-21.
2.
Clinical and genetic heterogeneity of erythrokeratoderma variabilis.
Common JE, etal., J Invest Dermatol. 2005 Nov;125(5):920-7.
3.
Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria.
Frei K, etal., Hear Res. 2004 Aug;194(1-2):81-6.
4.
Erythrokeratoderma variabilis caused by a recessive mutation in GJB3.
Fuchs-Telem D, etal., Clin Exp Dermatol. 2011 Jun;36(4):406-11. doi: 10.1111/j.1365-2230.2010.03986.x.
5.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.
Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
6.
Rat ISS GO annotations from GOA human gene data--August 2006
GOA data from the GO Consortium
7.
Expression of gap junction proteins Cx26, Cx31.1, Cx37, and Cx43 in developing and mature rat epidermis.
Goliger JA and Paul DL, Dev Dyn. 1994 May;200(1):1-13.
8.
A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein.
Gottfried I, etal., Hum Mol Genet. 2002 May 15;11(11):1311-6.
9.
Regulation of connexin31 gene expression upon retinoic acid treatment in rat choriocarcinoma cells.
Grümmer R, etal., Exp Cell Res. 1996 Aug 25;227(1):23-32.
10.
Molecular cloning and characterization of a new member of the gap junction gene family, connexin-31.
Hoh JH, etal., J Biol Chem 1991 Apr 5;266(10):6524-31.
11.
Impact of Genetic Variation in MicroRNA-binding Site on Susceptibility to Colorectal Cancer.
Kang BW, etal., Anticancer Res. 2016 Jul;36(7):3353-61.
12.
Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.
Liu XZ, etal., Hum Genet. 2009 Feb;125(1):53-62. doi: 10.1007/s00439-008-0602-9. Epub 2008 Dec 3.
13.
Rat ISS GO annotations from MGI mouse gene data--August 2006
MGD data from the GO Consortium
14.
Differential expression of gap-junction gene connexin 31 in seminiferous epithelium of rat testes.
Mok BW, etal., FEBS Lett. 1999 Jun 25;453(3):243-8.
15.
A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis.
Morley SM, etal., Br J Dermatol. 2005 Jun;152(6):1143-8.
16.
Electronic Transfer of LocusLink and RefSeq Data
NCBI rat LocusLink and RefSeq merged data July 26, 2002
17.
OMIM Disease Annotation Pipeline
OMIM Disease Annotation Pipeline
18.
Connexin31-deficiency in mice causes transient placental dysmorphogenesis but does not impair hearing and skin differentiation.
Plum A, etal., Dev Biol. 2001 Mar 15;231(2):334-47.
19.
Expression of connexin31 and connexin43 genes in early rat embryos.
Reuss B, etal., Dev Genet. 1997;21(1):82-90.
20.
GOA pipeline
RGD automated data pipeline
21.
ClinVar Automated Import and Annotation Pipeline
RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
22.
Data Import for Chemical-Gene Interactions
RGD automated import pipeline for gene-chemical interactions
23.
Comprehensive gene review and curation
RGD comprehensive gene curation
24.
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.
Richard G, etal., Hum Genet. 2000 Mar;106(3):321-9.
25.
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
Richard G, etal., Nat Genet. 1998 Dec;20(4):366-9.
26.
Distribution of ORM1, C6, C7 and APO C-II allele frequencies in populations from mainland Italy and Sardinia.
Scacchi R, etal., Hum Hered 1992;42(5):309-15.
27.
Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis.
Scott CA, etal., Clin Exp Dermatol. 2011 Jan;36(1):88-90.
28.
The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis.
Sugiura K, etal., Br J Dermatol. 2015 Jul;173(1):309-11. doi: 10.1111/bjd.13641. Epub 2015 May 28.
29.
A missense mutation in the GJB3 gene responsible for erythrokeratodermia variabilis in a Chinese family.
Wang W, etal., Clin Exp Dermatol. 2012 Dec;37(8):919-21. doi: 10.1111/j.1365-2230.2012.04406.x. Epub 2012 Jun 8.
30.
Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.
Wilgoss A, etal., J Invest Dermatol. 1999 Dec;113(6):1119-22.
31.
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.
Xia JH, etal., Nat Genet 1998 Dec;20(4):370-3.
Gjb3 Rat Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl GRCr8 5 144,933,692 - 144,939,435 (-) NCBI GRCr8 mRatBN7.2 5 139,649,227 - 139,654,970 (-) NCBI mRatBN7.2 mRatBN7.2 mRatBN7.2 Ensembl 5 139,649,195 - 139,654,980 (-) Ensembl mRatBN7.2 Ensembl UTH_Rnor_SHR_Utx 5 142,344,777 - 142,345,589 (-) NCBI Rnor_SHR UTH_Rnor_SHR_Utx UTH_Rnor_SHRSP_BbbUtx_1.0 5 144,114,766 - 144,115,578 (-) NCBI Rnor_SHRSP UTH_Rnor_SHRSP_BbbUtx_1.0 UTH_Rnor_WKY_Bbb_1.0 5 144,115,567 - 144,116,379 (-) NCBI Rnor_WKY UTH_Rnor_WKY_Bbb_1.0 Rnor_6.0 5 145,390,590 - 145,397,271 (-) NCBI Rnor6.0 Rnor_6.0 rn6 Rnor6.0 Rnor_6.0 Ensembl 5 145,391,311 - 145,392,123 (-) Ensembl Rnor6.0 rn6 Rnor6.0 Rnor_5.0 5 149,158,599 - 149,164,702 (-) NCBI Rnor5.0 Rnor_5.0 rn5 Rnor5.0 RGSC_v3.4 5 146,771,804 - 146,772,616 (-) NCBI RGSC3.4 RGSC_v3.4 rn4 RGSC3.4 RGSC_v3.1 5 146,781,842 - 146,782,655 (-) NCBI Celera 5 138,143,911 - 138,144,723 (-) NCBI Celera Cytogenetic Map 5 q36 NCBI
GJB3 Human Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl GRCh38 1 34,781,214 - 34,786,364 (+) NCBI GRCh38 GRCh38 hg38 GRCh38 GRCh38.p14 Ensembl 1 34,781,214 - 34,786,369 (+) Ensembl GRCh38 hg38 GRCh38 GRCh37 1 35,246,815 - 35,251,965 (+) NCBI GRCh37 GRCh37 hg19 GRCh37 Build 36 1 35,019,377 - 35,024,554 (+) NCBI NCBI36 Build 36 hg18 NCBI36 Build 34 1 34,915,882 - 34,921,057 NCBI Celera 1 33,520,514 - 33,525,691 (+) NCBI Celera Cytogenetic Map 1 p34.3 NCBI HuRef 1 33,364,392 - 33,369,569 (+) NCBI HuRef CHM1_1 1 35,362,359 - 35,367,536 (+) NCBI CHM1_1 T2T-CHM13v2.0 1 34,643,843 - 34,648,993 (+) NCBI T2T-CHM13v2.0
Gjb3 Mouse Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl GRCm39 4 127,219,028 - 127,224,633 (-) NCBI GRCm39 GRCm39 mm39 GRCm39 Ensembl 4 127,219,028 - 127,224,637 (-) Ensembl GRCm39 Ensembl GRCm38 4 127,325,235 - 127,330,836 (-) NCBI GRCm38 GRCm38 mm10 GRCm38 GRCm38.p6 Ensembl 4 127,325,235 - 127,330,844 (-) Ensembl GRCm38 mm10 GRCm38 MGSCv37 4 127,002,479 - 127,008,080 (-) NCBI GRCm37 MGSCv37 mm9 NCBIm37 MGSCv36 4 126,827,539 - 126,831,465 (-) NCBI MGSCv36 mm8 Celera 4 125,659,630 - 125,665,228 (-) NCBI Celera Cytogenetic Map 4 D2.2 NCBI cM Map 4 61.48 NCBI
Gjb3 Chinchilla Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl ChiLan1.0 Ensembl NW_004955452 12,892,687 - 12,896,290 (+) Ensembl ChiLan1.0 ChiLan1.0 NW_004955452 12,892,687 - 12,896,290 (+) NCBI ChiLan1.0 ChiLan1.0
GJB3 Bonobo Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl NHGRI_mPanPan1-v2 1 192,059,544 - 192,064,679 (-) NCBI NHGRI_mPanPan1-v2 NHGRI_mPanPan1 1 191,180,713 - 191,185,856 (-) NCBI NHGRI_mPanPan1 Mhudiblu_PPA_v0 1 34,048,136 - 34,053,298 (+) NCBI Mhudiblu_PPA_v0 Mhudiblu_PPA_v0 panPan3 PanPan1.1 1 35,229,660 - 35,234,821 (+) NCBI panpan1.1 PanPan1.1 panPan2
GJB3 Dog Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl CanFam3.1 15 7,175,010 - 7,177,145 (-) NCBI CanFam3.1 CanFam3.1 canFam3 CanFam3.1 Dog10K_Boxer_Tasha 15 7,413,106 - 7,418,450 (-) NCBI Dog10K_Boxer_Tasha ROS_Cfam_1.0 15 7,319,962 - 7,325,307 (-) NCBI ROS_Cfam_1.0 ROS_Cfam_1.0 Ensembl 15 7,320,683 - 7,321,495 (-) Ensembl ROS_Cfam_1.0 Ensembl UMICH_Zoey_3.1 15 7,182,367 - 7,187,711 (-) NCBI UMICH_Zoey_3.1 UNSW_CanFamBas_1.0 15 7,230,346 - 7,235,691 (-) NCBI UNSW_CanFamBas_1.0 UU_Cfam_GSD_1.0 15 7,244,564 - 7,249,909 (-) NCBI UU_Cfam_GSD_1.0
Gjb3 Squirrel Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl HiC_Itri_2 NW_024405058 51,602,426 - 51,606,586 (+) NCBI HiC_Itri_2 SpeTri2.0 Ensembl NW_004936474 17,429,926 - 17,430,729 (+) Ensembl SpeTri2.0 SpeTri2.0 Ensembl SpeTri2.0 NW_004936474 17,427,255 - 17,431,368 (+) NCBI SpeTri2.0 SpeTri2.0 SpeTri2.0
GJB3
GJB3 Green Monkey Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl ChlSab1.1 20 98,100,285 - 98,106,517 (-) NCBI ChlSab1.1 ChlSab1.1 chlSab2 ChlSab1.1 Ensembl 20 98,102,413 - 98,103,225 (-) Ensembl ChlSab1.1 ChlSab1.1 Ensembl chlSab2 Vero_WHO_p1.0 NW_023666033 18,734,683 - 18,739,822 (+) NCBI Vero_WHO_p1.0 Vero_WHO_p1.0
Gjb3
.
Predicted Target Of
Count of predictions: 122 Count of miRNA genes: 102 Interacting mature miRNAs: 113 Transcripts: ENSRNOT00000019266 Prediction methods: Microtar, Miranda, Rnahybrid Result types: miRGate_prediction
1331796 Thshl2 Thyroid stimulating hormone level QTL 2 2.3 blood thyroid-stimulating hormone amount (VT:0005119) serum thyroid stimulating hormone level (CMO:0001248) 5 97059760 147465714 Rat 10053720 Scort26 Serum corticosterone level QTL 26 2.06 0.0147 blood corticosterone amount (VT:0005345) plasma corticosterone level (CMO:0001173) 5 124965598 166875058 Rat 1549845 Scl44 Serum cholesterol level QTL 44 6 blood cholesterol amount (VT:0000180) serum total cholesterol level (CMO:0000363) 5 40128307 148607290 Rat 8552960 Pigfal15 Plasma insulin-like growth factor 1 level QTL 15 blood insulin-like growth factor amount (VT:0010479) plasma insulin-like growth factor 1 level (CMO:0001299) 5 111416838 156416838 Rat 631562 Apr2 Acute phase response QTL 2 3.7 blood murinoglobulin 1 amount (VT:0010597) plasma murinoglobulin 1 level (CMO:0001931) 5 135927956 166875058 Rat 61444 Strs2 Sensitivity to stroke QTL 2 4.7 cerebrum integrity trait (VT:0010549) post-insult time to onset of cerebrovascular lesion (CMO:0002343) 5 135929696 166875058 Rat 1300122 Wbc1 White blood cell count QTL 1 2.75 leukocyte quantity (VT:0000217) total white blood cell count (CMO:0000365) 5 125392826 139989768 Rat 61452 Ciaa5 CIA Autoantibody QTL 5 3.5 blood autoantibody amount (VT:0003725) calculated serum anti-rat type 2 collagen autoantibody titer (CMO:0001281) 5 94858972 143070159 Rat 70156 Niddm30 Non-insulin dependent diabetes mellitus QTL 30 3.98 blood glucose amount (VT:0000188) blood glucose level area under curve (AUC) (CMO:0000350) 5 129132447 151006154 Rat 8552908 Pigfal4 Plasma insulin-like growth factor 1 level QTL 4 6.6 blood insulin-like growth factor amount (VT:0010479) plasma insulin-like growth factor 1 level (CMO:0001299) 5 128506074 166875058 Rat 1331803 Rf32 Renal function QTL 32 2.798 kidney blood vessel physiology trait (VT:0100012) absolute change in renal vascular resistance (CMO:0001900) 5 129132428 143070159 Rat 61393 Bp7 Blood pressure QTL 7 4.5 0.0001 arterial blood pressure trait (VT:2000000) systolic blood pressure (CMO:0000004) 5 60293434 161481680 Rat 7794791 Mcs33 Mammary carcinoma susceptibility QTL 33 1.93 mammary gland integrity trait (VT:0010552) mammary tumor incidence/prevalence measurement (CMO:0000946) 5 131345754 166875058 Rat 7207486 Bss109 Bone structure and strength QTL 109 femur strength trait (VT:0010010) femur total energy absorbed before break (CMO:0001677) 5 106906205 151906205 Rat 7207481 Bss106 Bone structure and strength QTL 106 7.9 femur strength trait (VT:0010010) femur ultimate force (CMO:0001675) 5 106906205 151906205 Rat 1302790 Scl20 Serum cholesterol level QTL 20 6.4 0.0001 blood cholesterol amount (VT:0000180) plasma total cholesterol level (CMO:0000585) 5 82394392 166664054 Rat 1598861 Cm64 Cardiac mass QTL 64 2.9 heart mass (VT:0007028) heart weight to body weight ratio (CMO:0000074) 5 127798274 166875058 Rat 1578766 Tcas11 Tongue tumor susceptibility QTL 11 4.12 tongue integrity trait (VT:0010553) number of squamous cell tumors of the tongue with diameter greater than 3 mm (CMO:0001950) 5 46711509 161317411 Rat 631505 Bp103 Blood pressure QTL 103 3.2 arterial blood pressure trait (VT:2000000) systolic blood pressure (CMO:0000004) 5 132717196 165560427 Rat 1549838 Bss4 Bone structure and strength QTL 4 9.2 femur strength trait (VT:0010010) femur midshaft polar moment of inertia (CMO:0001669) 5 106906205 151906205 Rat 1641920 Colcs1 Colorectal carcinoma susceptibility QTL 1 2.99 0.0055 intestine integrity trait (VT:0010554) benign colorectal tumor surface area measurement (CMO:0001799) 5 121846814 166846814 Rat 8694169 Bw148 Body weight QTL 148 5 0.001 body mass (VT:0001259) body weight gain (CMO:0000420) 5 128506074 166875058 Rat 8657050 Bw146 Body weight QTL 146 19.84 0.001 body mass (VT:0001259) body weight gain (CMO:0000420) 5 108938288 153938288 Rat 1581510 Cm54 Cardiac mass QTL 54 3.4 0.05 heart left ventricle mass (VT:0007031) heart left ventricle weight to body weight ratio (CMO:0000530) 5 120740824 143608494 Rat 1576312 Emca8 Estrogen-induced mammary cancer QTL 8 4.1 mammary gland integrity trait (VT:0010552) mammary tumor number (CMO:0000343) 5 50328551 141643988 Rat 1641912 Alcrsp18 Alcohol response QTL 18 response to alcohol trait (VT:0010489) duration of loss of righting reflex (CMO:0002289) 5 35189153 141643988 Rat 1576314 Eutr1 Estrogen induced uterine response QTL 1 uterus integrity trait (VT:0010575) pyometritis severity score (CMO:0002009) 5 2138965 166875058 Rat 2317056 Wbc3 White blood cell count QTL 3 2.51 0.01 leukocyte quantity (VT:0000217) white blood cell count (CMO:0000027) 5 105999803 150999803 Rat 634349 Bp139 Blood pressure QTL 139 0.001 arterial blood pressure trait (VT:2000000) systolic blood pressure (CMO:0000004) 5 128924607 166875058 Rat 724525 Bp147 Blood pressure QTL 147 4.3 0.0001 arterial blood pressure trait (VT:2000000) systolic blood pressure (CMO:0000004) 5 126424772 166875058 Rat 1598847 Cm62 Cardiac mass QTL 62 3.4 heart mass (VT:0007028) heart weight to body weight ratio (CMO:0000074) 5 108845856 153845856 Rat 2293642 Bss37 Bone structure and strength QTL 37 4.64 0.0001 femur strength trait (VT:0010010) femur ultimate force (CMO:0001675) 5 120740824 151018848 Rat 1578673 Bmd13 Bone mineral density QTL 13 4.9 femur mineral mass (VT:0010011) trabecular volumetric bone mineral density (CMO:0001729) 5 103689353 148689353 Rat 738018 Anxrr4 Anxiety related response QTL 4 5.1 exploratory behavior trait (VT:0010471) percentage of entries into a discrete space in an experimental apparatus (CMO:0000961) 5 130130159 166875058 Rat 7207488 Bss110 Bone structure and strength QTL 1 8.4 femur strength trait (VT:0010010) femur stiffness (CMO:0001674) 5 106906205 151906205 Rat 8694441 Bw169 Body weight QTL 169 17.61 0.001 retroperitoneal fat pad mass (VT:0010430) retroperitoneal fat pad weight to body weight ratio (CMO:0000635) 5 111416838 156416838 Rat 7207491 Bss112 Bone structure and strength QTL 112 7 femur morphology trait (VT:0000559) femur midshaft cortical cross-sectional area (CMO:0001663) 5 106906205 151906205 Rat 8694389 Bw160 Body weight QTL 160 6.17 0.001 body lean mass (VT:0010483) lean tissue morphological measurement (CMO:0002184) 5 111416838 156416838 Rat 61426 Scl2 Serum cholesterol level QTL 2 7.3 0.001 blood cholesterol amount (VT:0000180) serum total cholesterol level (CMO:0000363) 5 59793399 143070159 Rat 1354598 Srn6 Serum renin concentration QTL 6 3.8 blood renin amount (VT:0003349) plasma renin activity level (CMO:0000116) 5 69540295 151018848 Rat 8694198 Abfw3 Abdominal fat weight QTL 3 16.13 0.001 visceral adipose mass (VT:0010063) abdominal fat pad weight to body weight ratio (CMO:0000095) 5 111416838 156416838 Rat 1298089 Scl14 Serum cholesterol level QTL 14 5.8 0.0004 blood cholesterol amount (VT:0000180) plasma total cholesterol level (CMO:0000585) 5 108845856 153845856 Rat 1598819 Bp292 Blood pressure QTL 292 4.3 arterial blood pressure trait (VT:2000000) systolic blood pressure (CMO:0000004) 5 127798274 166875058 Rat 1358187 Emca1 Estrogen-induced mammary cancer QTL 1 4.4 mammary gland integrity trait (VT:0010552) post-insult time to mammary tumor formation (CMO:0000345) 5 99216724 148607142 Rat
UniSTS:472855
Rat Assembly Chr Position (strand) Source JBrowse mRatBN7.2 5 139,650,209 - 139,650,761 (+) MAPPER mRatBN7.2 Rnor_6.0 5 145,391,573 - 145,392,124 NCBI Rnor6.0 Rnor_5.0 5 149,159,582 - 149,160,133 UniSTS Rnor5.0 RGSC_v3.4 5 146,772,066 - 146,772,617 UniSTS RGSC3.4 Celera 5 138,144,173 - 138,144,724 UniSTS Cytogenetic Map 5 q36 UniSTS
Click on a value in the shaded box below the category label to view a detailed expression data table for that system.
alimentary part of gastrointestinal system
9
3
38
85
66
71
41
17
41
6
162
65
71
44
60
30
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Ensembl Acc Id:
ENSRNOT00000019266 ⟹ ENSRNOP00000019266
Type:
CODING
Position:
Rat Assembly Chr Position (strand) Source mRatBN7.2 Ensembl 5 139,649,195 - 139,653,443 (-) Ensembl Rnor_6.0 Ensembl 5 145,391,311 - 145,392,123 (-) Ensembl
Ensembl Acc Id:
ENSRNOT00000111000 ⟹ ENSRNOP00000084913
Type:
CODING
Position:
Rat Assembly Chr Position (strand) Source mRatBN7.2 Ensembl 5 139,649,195 - 139,654,980 (-) Ensembl
RefSeq Acc Id:
NM_001411660 ⟹ NP_001398589
RefSeq Status:
VALIDATED
Type:
CODING
Position:
Rat Assembly Chr Position (strand) Source GRCr8 5 144,933,692 - 144,937,766 (-) NCBI mRatBN7.2 5 139,649,227 - 139,653,301 (-) NCBI
RefSeq Acc Id:
NM_019240 ⟹ NP_062113
RefSeq Status:
VALIDATED
Type:
CODING
Position:
Rat Assembly Chr Position (strand) Source GRCr8 5 144,933,692 - 144,939,435 (-) NCBI mRatBN7.2 5 139,649,227 - 139,654,970 (-) NCBI Rnor_6.0 5 145,391,311 - 145,392,123 (-) NCBI Rnor_5.0 5 149,158,599 - 149,164,702 (-) NCBI RGSC_v3.4 5 146,771,804 - 146,772,616 (-) RGD Celera 5 138,143,911 - 138,144,723 (-) RGD
Sequence:
ATGGATTGGAAGAAGCTTCAGGACCTGTTGAGCGGTGTGAACCAGTACTCCACCGCATTCGGGCGCATCTGGCTGTCGGTAGTGTTCGTCTTCCGGGTGCTGGTGTATGTGGTGGCTGCAGAGCGTGT
hide sequence
RefSeq Acc Id:
NP_062113 ⟸ NM_019240
- UniProtKB:
P25305 (UniProtKB/Swiss-Prot), A0A654ICZ5 (UniProtKB/TrEMBL)
- Sequence:
MDWKKLQDLLSGVNQYSTAFGRIWLSVVFVFRVLVYVVAAERVWGDEQKDFDCNTRQPGCTNVCYDNFFPISNIRLWALQLIFVTCPSMLVILHVAYREERERKHRQKHGEHCAKLYSHPGKKHGGLW
hide sequence
Ensembl Acc Id:
ENSRNOP00000019266 ⟸ ENSRNOT00000019266
Ensembl Acc Id:
ENSRNOP00000084913 ⟸ ENSRNOT00000111000
RefSeq Acc Id:
NP_001398589 ⟸ NM_001411660
- UniProtKB:
P25305 (UniProtKB/Swiss-Prot), A0A654ICZ5 (UniProtKB/TrEMBL)
Date
Current Symbol
Current Name
Previous Symbol
Previous Name
Description
Reference
Status
2008-05-20
Gjb3
gap junction protein, beta 3
Gjb3
gap junction membrane channel protein beta 3
Nomenclature updated to reflect human and mouse nomenclature
1299863 APPROVED
2002-06-10
Gjb3
gap junction membrane channel protein beta 3
Name updated
70584 APPROVED
Note Type
Note
Reference
gene_disease
mutation of the human homolog is detected in two families with bilateral hearing impairment
1300214
gene_expression
expressed in inner ear
1300214
