Gjb2 (gap junction protein, beta 2) - Rat Genome Database

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Gene: Gjb2 (gap junction protein, beta 2) Rattus norvegicus
Analyze
Symbol: Gjb2
Name: gap junction protein, beta 2
RGD ID: 728891
Description: Enables gap junction channel activity. Involved in several processes, including cellular response to glucagon stimulus; decidualization; and response to steroid hormone. Located in several cellular components, including astrocyte projection; gap junction; and lateral plasma membrane. Used to study hepatocellular carcinoma and lung adenocarcinoma. Biomarker of autoimmune thyroiditis; extrahepatic cholestasis; ischemia; sensorineural hearing loss; and urethral obstruction. Human ortholog(s) of this gene implicated in Bart-Pumphrey syndrome; Vohwinkel syndrome; autosomal dominant keratitis-ichthyosis-deafness syndrome; nonsyndromic deafness (multiple); and palmoplantar keratoderma-deafness syndrome. Orthologous to human GJB2 (gap junction protein beta 2); INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 17beta-estradiol 3-benzoate.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: connexin 26; connexin e; connexin-26; Cx26; CXN-26; Cxne; gap junction beta-2 protein; gap junction channel protein connexin 26; gap junction membrane channel protein beta 2; MGC93804
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21531,260,390 - 31,278,222 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1531,260,357 - 31,278,177 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1533,251,720 - 33,257,696 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01534,402,373 - 34,408,349 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01532,660,503 - 32,666,480 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01537,377,313 - 37,394,494 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1537,377,316 - 37,383,277 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01541,224,497 - 41,236,203 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41536,153,526 - 36,159,490 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11536,169,226 - 36,175,190 (-)NCBI
Celera1530,972,813 - 30,978,777 (-)NCBICelera
Cytogenetic Map15p12NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
autism spectrum disorder  (ISO)
autoimmune thyroiditis  (IEP)
autosomal dominant keratitis-ichthyosis-deafness syndrome  (ISO,ISS)
autosomal dominant nonsyndromic deafness 3A  (ISO)
autosomal dominant nonsyndromic deafness 3B  (ISO)
autosomal recessive nonsyndromic deafness  (ISO)
autosomal recessive nonsyndromic deafness 104  (ISO)
autosomal recessive nonsyndromic deafness 12  (ISO)
autosomal recessive nonsyndromic deafness 1A  (ISO,ISS)
autosomal recessive nonsyndromic deafness 1B  (ISO)
Bart-Pumphrey syndrome  (ISO)
cataract 14 multiple types  (ISO)
cellulitis  (ISO)
Clouston syndrome  (ISO)
Deafness  (ISO)
ectodermal dysplasia  (ISO)
Experimental Diabetes Mellitus  (IEP)
Experimental Liver Neoplasms  (IEP)
extrahepatic cholestasis  (IEP)
genetic disease  (ISO)
Hearing Loss  (ISO)
Hearing Loss, Noise-Induced  (IEP)
hepatocellular carcinoma  (IDA)
HID Syndrome  (ISO)
hidradenitis suppurativa  (ISO)
ichthyosis  (ISO)
ichthyosis follicularis-alopecia-photophobia syndrome 1  (ISO)
ischemia  (IEP)
keratitis  (ISO)
Keratitis-Ichthyosis-Deafness Syndrome  (ISO)
Lipoyltransferase 1 Deficiency  (ISO)
lung adenocarcinoma  (IDA)
newborn respiratory distress syndrome  (ISO)
nonsyndromic deafness  (ISO)
Nonsyndromic Sensorineural Hearing Loss  (ISO)
Noonan syndrome 1  (ISO)
palmoplantar keratoderma-deafness syndrome  (ISO)
palmoplantar keratosis  (ISO)
Premature Obstetric Labor  (IDA)
Primary Pulmonary Hypertension, 1  (ISO)
psoriasis  (ISO)
Pulmonary Arterial Hypertension  (ISO)
sensorineural hearing loss  (IEP,ISO)
Skin Neoplasms  (ISO)
urethral obstruction  (IEP)
Vohwinkel syndrome  (ISO)
X-linked deafness 2  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (EXP)
2-acetamidofluorene  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (EXP)
7,12-dimethyltetraphene  (ISO)
8-Br-cAMP  (ISO)
acetamide  (EXP)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (ISO)
amitrole  (EXP)
arsenite(3-)  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (ISO)
Benzoyl peroxide  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromobenzene  (EXP)
butan-1-ol  (ISO)
butanal  (ISO)
cadmium sulfate  (ISO)
calcitriol  (ISO)
carbamazepine  (ISO)
carbon nanotube  (ISO)
chenodeoxycholic acid  (ISO)
chloral hydrate  (EXP)
chlordecone  (ISO)
chloropicrin  (ISO)
chloroquine  (EXP)
cisplatin  (EXP,ISO)
cocaine  (ISO)
coumarin  (EXP)
Cuprizon  (EXP)
cyclosporin A  (ISO)
deoxycholic acid  (ISO)
dibutyl phthalate  (EXP)
dieldrin  (EXP)
diethylstilbestrol  (ISO)
dimethyl sulfoxide  (EXP)
dioxygen  (EXP)
dorsomorphin  (ISO)
endosulfan  (EXP)
entinostat  (ISO)
flutamide  (EXP)
fonofos  (ISO)
fulvestrant  (ISO)
genistein  (EXP,ISO)
gentamycin  (EXP)
glycochenodeoxycholic acid  (ISO)
glycocholic acid  (ISO)
glycodeoxycholic acid  (ISO)
Heptachlor epoxide  (EXP)
hexachlorobenzene  (EXP)
Indeno[1,2,3-cd]pyrene  (ISO)
inulin  (ISO)
isobutanol  (ISO)
ketoconazole  (EXP)
lead nitrate  (ISO)
limonene  (EXP)
lipopolysaccharide  (ISO)
mercury dibromide  (ISO)
mercury dichloride  (ISO)
methapyrilene  (EXP,ISO)
methimazole  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-nitrosodiethylamine  (EXP,ISO)
N-nitrosodimethylamine  (EXP)
nefazodone  (EXP,ISO)
ochratoxin A  (EXP)
okadaic acid  (ISO)
oleamide  (ISO)
oxaliplatin  (EXP)
paclitaxel  (EXP)
panobinostat  (ISO)
paracetamol  (ISO)
parathion  (ISO)
pentanal  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
pirinixic acid  (EXP,ISO)
progesterone  (ISO)
propanal  (ISO)
propiconazole  (EXP,ISO)
raloxifene  (ISO)
resveratrol  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (ISO)
SB 431542  (ISO)
scopolamine  (EXP)
silicon dioxide  (ISO)
simvastatin  (ISO)
sodium arsenite  (ISO)
sodium dodecyl sulfate  (EXP)
sulfadimethoxine  (EXP)
Sunset Yellow FCF  (ISO)
tamoxifen  (ISO)
tartrazine  (ISO)
temozolomide  (ISO)
terbufos  (ISO)
tert-butyl hydroperoxide  (ISO)
testosterone  (EXP,ISO)
thioacetamide  (EXP)
titanium dioxide  (ISO)
topotecan  (EXP)
trichloroethene  (EXP)
trichostatin A  (ISO)
urethane  (ISO)
valdecoxib  (EXP)
valproic acid  (ISO)
vancomycin  (ISO)
vinclozolin  (EXP)
zearalenone  (EXP)
zoledronic acid  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Prevalent connexin 26 gene (GJB2) mutations in Japanese. Abe S, etal., J Med Genet. 2000 Jan;37(1):41-3.
2. Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders. Bakirtzis G, etal., Hum Mol Genet. 2003 Jul 15;12(14):1737-44.
3. Absence of GJB6 mutations in Indian patients with non-syndromic hearing loss. Bhalla S, etal., Int J Pediatr Otorhinolaryngol. 2011 Mar;75(3):356-9. doi: 10.1016/j.ijporl.2010.12.003. Epub 2011 Jan 11.
4. Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort. Cama E, etal., Int J Audiol. 2009 Jan;48(1):12-7. doi: 10.1080/14992020802400654.
5. 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.
6. Intracellular Delivery of Short Interfering RNA in Rat Organ of Corti Using a Cell-penetrating Peptide PepFect6. Dash-Wagh S, etal., Mol Ther Nucleic Acids. 2012 Dec 11;1:e61. doi: 10.1038/mtna.2012.50.
7. Interruption of hepatic gap junctional communication in the rat during inflammation induced by bacterial lipopolysaccharide. De Maio A, etal., Shock. 2000 Jul;14(1):53-9.
8. A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. de Zwart-Storm EA, etal., Am J Pathol. 2008 Oct;173(4):1113-9. doi: 10.2353/ajpath.2008.080049. Epub 2008 Sep 11.
9. A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. de Zwart-Storm EA, etal., J Med Genet. 2008 Mar;45(3):161-6. Epub 2007 Nov 9.
10. Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins. del Castillo FJ, etal., Hum Mol Genet. 2010 Jan 15;19(2):262-75. doi: 10.1093/hmg/ddp490. Epub 2009 Oct 28.
11. Expression of multiple connexins in the rat epididymis indicates a complex regulation of gap junctional communication. Dufresne J, etal., Am J Physiol Cell Physiol 2003 Jan;284(1):C33-43.
12. Altered expression and function of hepatocyte gap junctions after common bile duct ligation in the rat. Fallon MB, etal., Am J Physiol. 1995 May;268(5 Pt 1):C1186-94.
13. 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.
14. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
15. Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2. Gravina LP, etal., Int J Pediatr Otorhinolaryngol. 2010 Mar;74(3):250-4. doi: 10.1016/j.ijporl.2009.11.014. Epub 2009 Dec 22.
16. Reduced cell-cell communication in experimentally induced autoimmune thyroid disease. Green LM, etal., Endocrinology. 1996 Jul;137(7):2823-32.
17. Gap junction connexin genes cx26 and cx43 are differentially regulated by ovarian steroid hormones in rat endometrium. Grummer R, etal., Endocrinology. 1999 Jun;140(6):2509-16.
18. Connexins 43 and 26 are differentially increased after rat bladder outlet obstruction. Haefliger JA, etal., Exp Cell Res. 2002 Apr 1;274(2):216-25.
19. Prevalence of GJB2 (CX26) gene mutations in south Iranian patients with autosomal recessive nonsyndromic sensorineural hearing loss. Hashemi SB, etal., Mol Biol Rep. 2012 Dec;39(12):10481-7. doi: 10.1007/s11033-012-1929-9. Epub 2012 Oct 17.
20. Prevalence of Connexin 26 (GJB2) and Pendred (SLC26A4) mutations in a population of adult cochlear implant candidates. Hochman JB, etal., Otol Neurotol. 2010 Aug;31(6):919-22. doi: 10.1097/MAO.0b013e3181e3d324.
21. Expression of connexin 26 in the lateral wall of the rat cochlea after acoustic trauma. Hsu WC, etal., Acta Otolaryngol. 2004 May;124(4):459-63.
22. Gentamicin affects connexin 26 expression in the cochlear lateral wall. Hu P, etal., B-ENT. 2012;8(2):77-84.
23. New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma. Iossa S, etal., Am J Med Genet A. 2009 Feb 15;149A(4):685-8. doi: 10.1002/ajmg.a.32462.
24. R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar keratoderma. Jiang SJ, etal., Int J Pediatr Otorhinolaryngol. 2014 Sep;78(9):1461-6. doi: 10.1016/j.ijporl.2014.06.008. Epub 2014 Jun 16.
25. Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity. Kim SY, etal., PLoS One. 2013 Apr 25;8(4):e61592. doi: 10.1371/journal.pone.0061592. Print 2013.
26. Effects of oxygen radical scavengers on connexins 32 and 26 expression in primary cultures of adult rat hepatocytes. Kojima T, etal., Carcinogenesis. 1996 Mar;17(3):537-44.
27. Changes in cellular distribution of connexins 32 and 26 during formation of gap junctions in primary cultures of rat hepatocytes. Kojima T, etal., Exp Cell Res. 1996 Mar 15;223(2):314-26.
28. Induction and regulation of connexin26 by glucagon in primary cultures of adult rat hepatocytes. Kojima T, etal., J Cell Sci. 1995 Aug;108 ( Pt 8):2771-80.
29. Developmental expression patterns of connexin26 and -30 in the rat cochlea. Lautermann J, etal., Dev Genet. 1999;25(4):306-11.
30. A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome? Lazic T, etal., Pediatr Dermatol. 2008 Sep-Oct;25(5):535-40. doi: 10.1111/j.1525-1470.2008.00767.x.
31. Cell degeneration is not a primary causer for Connexin26 (GJB2) deficiency associated hearing loss. Liang C, etal., Neurosci Lett. 2012 Oct 18;528(1):36-41. doi: 10.1016/j.neulet.2012.08.085. Epub 2012 Sep 11.
32. Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. Liu XZ, etal., Hum Mol Genet. 2001 Dec 1;10(25):2945-51.
33. Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China. Lu Y, etal., J Biomed Res. 2011 Sep;25(5):309-18. doi: 10.1016/S1674-8301(11)60042-0.
34. Early inner retinal astrocyte dysfunction during diabetes and development of hypoxia, retinal stress, and neuronal functional loss. Ly A, etal., Invest Ophthalmol Vis Sci. 2011 Dec 2;52(13):9316-26. doi: 10.1167/iovs.11-7879.
35. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Maestrini E, etal., Hum Mol Genet. 1999 Jul;8(7):1237-43.
36. Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients. Matos TD, etal., Int J Audiol. 2013 Jul;52(7):466-71. doi: 10.3109/14992027.2013.783719. Epub 2013 May 13.
37. Connexin 26 and basic fibroblast growth factor are expressed primarily in the subpial and subependymal layers in adult brain parenchyma: roles in stem cell proliferation and morphological plasticity? Mercier F and Hatton GI, J Comp Neurol. 2001 Feb 26;431(1):88-104.
38. The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome. Mese G, etal., Mol Biol Cell. 2011 Dec;22(24):4776-86. doi: 10.1091/mbc.E11-09-0778. Epub 2011 Oct 26.
39. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
40. NCBI rat LocusLink and RefSeq merged data October 15, 2003 NCBI rat LocusLink and RefSeq merged data October 15, 2003
41. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
42. Rat endometrial stromal cells express the gap junction genes connexins 26 and 43 and form functional gap junctions during in vitro decidualization. Orlando-Mathur CE, etal., Biol Reprod. 1996 Apr;54(4):905-13.
43. Connexin-26 and connexin-43 are differentially expressed and regulated in the rat myometrium throughout late pregnancy and with the onset of labor. Orsino A, etal., Endocrinology. 1996 May;137(5):1545-53.
44. Expression of connexin-43 and connexin-26 in the rat myometrium during pregnancy and labor is differentially regulated by mechanical and hormonal signals. Ou CW, etal., Endocrinology. 1997 Dec;138(12):5398-407.
45. Prevalence of GBJ2 mutations in patients with severe to profound congenital nonsyndromic sensorineural hearing loss in Bulgarian population. Popova DP, etal., Eur Arch Otorhinolaryngol. 2012 Jun;269(6):1589-92. doi: 10.1007/s00405-011-1817-2. Epub 2011 Oct 29.
46. [Progressive Hearing Impairment with Deletion in GJB2 Gene Despite Normal Newborn Hearing Screening.] Prera N, etal., Laryngorhinootologie. 2013 Sep 10.
47. Identification of cells expressing Cx43, Cx30, Cx26, Cx32 and Cx36 in gap junctions of rat brain and spinal cord. Rash JE, etal., Cell Commun Adhes 2001;8(4-6):315-20.
48. GOA pipeline RGD automated data pipeline
49. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
50. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
51. Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss. Riahi Z, etal., Gene. 2013 Aug 1;525(1):1-4. doi: 10.1016/j.gene.2013.04.078. Epub 2013 May 13.
52. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. Richard G, etal., J Invest Dermatol. 2004 Nov;123(5):856-63.
53. Modulation of gap junction expression during transient hyperplasia of rat epidermis. Risek B, etal., J Cell Sci. 1998 May;111 ( Pt 10):1395-404.
54. Differential changes in expression of gap junction proteins connexin 26 and 32 during hepatocarcinogenesis in rats. Sakamoto H, etal., Jpn J Cancer Res. 1992 Nov;83(11):1210-5.
55. The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome. Schutz M, etal., Hum Mol Genet. 2011 Jan 1;20(1):28-39. doi: 10.1093/hmg/ddq429. Epub 2010 Oct 6.
56. Reduced expression of the Connexin26 gene and its aberrant DNA methylation in rat lung adenocarcinomas induced by N-nitrosobis(2-hydroxypropyl)amine. Shimizu K, etal., Mol Carcinog. 2006 Sep;45(9):710-4.
57. Immunolocalization of GLUT1 and connexin 26 in the rat placenta. Shin BC, etal., Cell Tissue Res. 1996 Jul;285(1):83-9.
58. Localization of connexin26 and connexin32 in putative CO(2)-chemosensitive brainstem regions in rat. Solomon IC, etal., Respir Physiol. 2001 Dec;129(1-2):101-21.
59. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
60. Genetics of non syndromic hearing loss in the republic of macedonia. Sukarova Stefanovska E, etal., Balkan J Med Genet. 2012 Dec;15(Suppl):57-9. doi: 10.2478/v10034-012-0020-0.
61. Urinary bladder mucosal responses to ischemia. Sunagawa M, etal., World J Urol. 2015 Feb;33(2):275-80. doi: 10.1007/s00345-014-1298-1. Epub 2014 Apr 12.
62. Long-lasting changes in the cochlear K recycling structures after acute energy failure. Takiguchi Y, etal., Neurosci Res. 2013 Jul 1. pii: S0168-0102(13)00159-4. doi: 10.1016/j.neures.2013.06.003.
63. Connexin26 is regulated in rat urothelium by the scaffold protein IB1/JIP-1. Tawadros T, etal., Cell Commun Adhes 2001;8(4-6):303-6.
64. Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss. Terrinoni A, etal., Biochem Biophys Res Commun. 2010 Apr 23;395(1):25-30. doi: 10.1016/j.bbrc.2010.03.098. Epub 2010 Mar 20.
65. CpG site hypermethylation of E-cadherin and Connexin26 genes in hepatocellular carcinomas induced by a choline-deficient L-Amino Acid-defined diet in rats. Tsujiuchi T, etal., Mol Carcinog. 2007 Apr;46(4):269-74.
66. Expression of different connexin genes in rat uterus during decidualization and at term. Winterhager E, etal., Eur J Cell Biol. 1991 Jun;55(1):133-42.
67. Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome. Wonkam A, etal., BMC Med Genet. 2013 Aug 7;14:81. doi: 10.1186/1471-2350-14-81.
68. Reduced expression of Connexin26 and its DNA promoter hypermethylation in the inner ear of mimetic aging rats induced by d-galactose. Wu X, etal., Biochem Biophys Res Commun. 2014 Sep 26;452(3):340-6. doi: 10.1016/j.bbrc.2014.08.063. Epub 2014 Aug 23.
69. Direct modulation of tumor suppressor connexin 26 gene by human chorionic gonadotropin in rat mammary glands. You S, etal., Cancer Res. 1998 Apr 1;58(7):1498-502.
Additional References at PubMed
PMID:2557354   PMID:2823143   PMID:11745652   PMID:12767933   PMID:14595769   PMID:14676473   PMID:15028626   PMID:15128867   PMID:15489334   PMID:15692151   PMID:17551008   PMID:17693411  
PMID:17713529   PMID:19194037   PMID:19340074   PMID:19775242   PMID:20089884   PMID:20441744   PMID:20654614   PMID:21094651   PMID:24590285   PMID:25365227   PMID:26590355   PMID:26753910  
PMID:27053364   PMID:27143357   PMID:27816814   PMID:29207085   PMID:33171391  


Genomics

Comparative Map Data
Gjb2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21531,260,390 - 31,278,222 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1531,260,357 - 31,278,177 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1533,251,720 - 33,257,696 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01534,402,373 - 34,408,349 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01532,660,503 - 32,666,480 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01537,377,313 - 37,394,494 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1537,377,316 - 37,383,277 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01541,224,497 - 41,236,203 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41536,153,526 - 36,159,490 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11536,169,226 - 36,175,190 (-)NCBI
Celera1530,972,813 - 30,978,777 (-)NCBICelera
Cytogenetic Map15p12NCBI
GJB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381320,187,470 - 20,192,938 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1320,187,463 - 20,192,938 (-)EnsemblGRCh38hg38GRCh38
GRCh371320,761,609 - 20,767,077 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361319,659,605 - 19,665,114 (-)NCBINCBI36Build 36hg18NCBI36
Build 341319,659,608 - 19,665,037NCBI
Celera131,823,407 - 1,828,919 (-)NCBICelera
Cytogenetic Map13q12.11NCBI
HuRef131,567,054 - 1,572,566 (-)NCBIHuRef
CHM1_11320,730,111 - 20,735,623 (-)NCBICHM1_1
T2T-CHM13v2.01319,383,900 - 19,389,385 (-)NCBIT2T-CHM13v2.0
Gjb2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391457,336,059 - 57,342,159 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1457,336,057 - 57,342,159 (-)EnsemblGRCm39 Ensembl
GRCm381457,098,602 - 57,104,702 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1457,098,600 - 57,104,702 (-)EnsemblGRCm38mm10GRCm38
MGSCv371457,717,439 - 57,723,539 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361456,052,728 - 56,058,775 (-)NCBIMGSCv36mm8
Celera1454,889,190 - 54,895,282 (-)NCBICelera
Cytogenetic Map14C3NCBI
cM Map1430.1NCBI
Gjb2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955497988,422 - 989,099 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955497987,213 - 989,477 (-)NCBIChiLan1.0ChiLan1.0
GJB2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan11310,930,180 - 10,936,024 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0131,514,714 - 1,520,239 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11319,829,838 - 19,831,999 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1319,831,274 - 19,831,954 (-)Ensemblpanpan1.1panPan2
GJB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12517,952,851 - 17,958,289 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2517,952,851 - 17,958,289 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2517,983,495 - 17,988,934 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02518,090,743 - 18,096,185 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2518,090,743 - 18,096,185 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12517,957,195 - 17,962,619 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02517,968,886 - 17,974,320 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02518,025,532 - 18,030,958 (+)NCBIUU_Cfam_GSD_1.0
Gjb2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945119,960,764 - 119,982,667 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367201,528,249 - 1,528,929 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367201,528,205 - 1,530,296 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GJB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl11775,166 - 775,846 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.111774,090 - 781,252 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
GJB2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.13801,786 - 808,165 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl3807,379 - 808,059 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605743,777,267 - 43,781,704 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gjb2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477617,518,284 - 17,522,936 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477617,517,824 - 17,522,683 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Gjb2
17 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:167
Count of miRNA genes:115
Interacting mature miRNAs:137
Transcripts:ENSRNOT00000011711
Prediction methods:Miranda, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
8552920Pigfal8Plasma insulin-like growth factor 1 level QTL 83blood insulin-like growth factor amount (VT:0010479)plasma insulin-like growth factor 1 level (CMO:0001299)15134723002Rat
8694361Abfw6Abdominal fat weight QTL 610.20.001visceral adipose mass (VT:0010063)abdominal fat pad weight to body weight ratio (CMO:0000095)15134723002Rat
9589149Insul29Insulin level QTL 299.060.001blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)15134723002Rat
731170Pur3Proteinuria QTL 32.30.0005urine protein amount (VT:0005160)urine protein excretion rate (CMO:0000759)15141686771Rat
1641887Alcrsp14Alcohol response QTL 14response to alcohol trait (VT:0010489)brain neurotensin receptor 1 density (CMO:0002068)15142356671Rat
2298549Neuinf12Neuroinflammation QTL 123.5nervous system integrity trait (VT:0010566)spinal cord beta-2 microglobulin mRNA level (CMO:0002125)15155302115Rat
10401805Kidm51Kidney mass QTL 51kidney mass (VT:0002707)both kidneys wet weight (CMO:0000085)1530632945306329Rat
738017Hcas7Hepatocarcinoma susceptibility QTL 72.91liver integrity trait (VT:0010547)liver nonremodeling tumorous lesion volume to total liver volume ratio (CMO:0001464)15226636846921453Rat
1582251Gluco24Glucose level QTL 243.20.0008blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)15553075650530756Rat
631273Lecl2Lens clarity QTL 20.001lens clarity trait (VT:0001304)age of onset/diagnosis of cataract (CMO:0001584)151059608955596089Rat
2300167Bmd63Bone mineral density QTL 635.90.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)151111114256111142Rat
2300173Bmd62Bone mineral density QTL 6212.80.0001lumbar vertebra mineral mass (VT:0010511)volumetric bone mineral density (CMO:0001553)151111114256111142Rat
2293688Bss29Bone structure and strength QTL 295.310.0001femur morphology trait (VT:0000559)femur midshaft cortical cross-sectional area (CMO:0001663)151111114256111142Rat
2317750Glom26Glomerulus QTL 264.3urine protein amount (VT:0005160)urine protein level (CMO:0000591)151249614165205939Rat
61424Scl1Serum cholesterol level QTL 17.70.001blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)151672552880672115Rat
1331729Rf42Renal function QTL 423.071kidney blood vessel physiology trait (VT:0100012)absolute change in renal blood flow rate (CMO:0001168)151736289773690657Rat
631550Bw7Body weight QTL 73.6body mass (VT:0001259)body weight (CMO:0000012)151985656634924750Rat
2324620Coatc3Coat color QTL 3coat/hair pigmentation trait (VT:0010463)pigmented coat/hair area to total coat/hair area ratio (CMO:0001810)151985656646187442Rat
10054130Srcrt8Stress Responsive Cort QTL 82.180.0085blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)152211793367117933Rat
1578646Bmd18Bone mineral density QTL 185.2femur mineral mass (VT:0010011)trabecular volumetric bone mineral density (CMO:0001729)152280624098288169Rat
1578647Bmd17Bone mineral density QTL 174femur mineral mass (VT:0010011)total volumetric bone mineral density (CMO:0001728)152280624098288169Rat
1578660Bss19Bone structure and strength QTL 194.3femur morphology trait (VT:0000559)bone trabecular cross-sectional area (CMO:0002311)152280624098288169Rat
1582214Stl21Serum triglyceride level QTL 213.10.022blood triglyceride amount (VT:0002644)serum triglyceride level (CMO:0000360)152803066582262678Rat
1582227Gluco30Glucose level QTL 303.60.0003blood glucose amount (VT:0000188)absolute change in blood glucose level area under curve (CMO:0002034)152803066582262678Rat
1582228Epfw3Epididymal fat weight QTL 34.10.0002epididymal fat pad mass (VT:0010421)epididymal fat pad weight to body weight ratio (CMO:0000658)152803066582262678Rat
1582242Gluco28Glucose level QTL 283.30.0008blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)152803066582262678Rat
1582244Bw79Body weight QTL 7940.0002epididymal fat pad mass (VT:0010421)epididymal fat pad weight to body weight ratio (CMO:0000658)152803066582262678Rat

Markers in Region
RH129172  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21531,262,544 - 31,262,734 (+)MAPPERmRatBN7.2
Rnor_6.01537,379,468 - 37,379,657NCBIRnor6.0
Rnor_5.01541,226,652 - 41,226,841UniSTSRnor5.0
RGSC_v3.41536,155,681 - 36,155,870UniSTSRGSC3.4
Celera1530,974,968 - 30,975,157UniSTS
RH 3.4 Map15260.89UniSTS
Cytogenetic Map15p12UniSTS
RH133850  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21531,261,074 - 31,261,270 (+)MAPPERmRatBN7.2
Rnor_6.01537,377,998 - 37,378,193NCBIRnor6.0
Rnor_5.01541,225,182 - 41,225,377UniSTSRnor5.0
RGSC_v3.41536,154,211 - 36,154,406UniSTSRGSC3.4
Celera1530,973,498 - 30,973,693UniSTS
Cytogenetic Map15p12UniSTS
RH137073  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21531,260,535 - 31,260,727 (+)MAPPERmRatBN7.2
Rnor_6.01537,377,459 - 37,377,650NCBIRnor6.0
Rnor_5.01541,224,643 - 41,224,834UniSTSRnor5.0
RGSC_v3.41536,153,672 - 36,153,863UniSTSRGSC3.4
Celera1530,972,959 - 30,973,150UniSTS
RH 3.4 Map15214.77UniSTS
Cytogenetic Map15p12UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system appendage
High
Medium 2 27 21 6 21 34 23 3
Low 1 20 22 20 13 20 3 4 38 12 27 11 3
Below cutoff 21 8 5 7 2 11 5

Sequence


Reference Sequences
RefSeq Acc Id: ENSRNOT00000011711   ⟹   ENSRNOP00000011711
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1531,260,357 - 31,266,463 (-)Ensembl
Rnor_6.0 Ensembl1537,377,316 - 37,383,277 (-)Ensembl
RefSeq Acc Id: ENSRNOT00000104368   ⟹   ENSRNOP00000082358
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1531,260,403 - 31,278,177 (-)Ensembl
RefSeq Acc Id: NM_001004099   ⟹   NP_001004099
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.21531,260,390 - 31,266,367 (-)NCBI
Rnor_6.01537,377,313 - 37,383,277 (-)NCBI
Rnor_5.01541,224,497 - 41,236,203 (-)NCBI
RGSC_v3.41536,153,526 - 36,159,490 (-)RGD
Celera1530,972,813 - 30,978,777 (-)RGD
Sequence:
RefSeq Acc Id: XM_017599765   ⟹   XP_017455254
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.21531,260,390 - 31,278,222 (-)NCBI
Rnor_6.01537,377,313 - 37,394,494 (-)NCBI
Sequence:
RefSeq Acc Id: XM_039093557   ⟹   XP_038949485
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.21531,260,390 - 31,272,192 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001004099   ⟸   NM_001004099
- UniProtKB: P21994 (UniProtKB/Swiss-Prot),   A6KHA9 (UniProtKB/TrEMBL),   A0A654IDU4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_017455254   ⟸   XM_017599765
- Peptide Label: isoform X1
- UniProtKB: P21994 (UniProtKB/Swiss-Prot),   A6KHA9 (UniProtKB/TrEMBL),   A0A654IDU4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000011711   ⟸   ENSRNOT00000011711
RefSeq Acc Id: XP_038949485   ⟸   XM_039093557
- Peptide Label: isoform X1
- UniProtKB: P21994 (UniProtKB/Swiss-Prot),   A6KHA9 (UniProtKB/TrEMBL),   A0A654IDU4 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSRNOP00000082358   ⟸   ENSRNOT00000104368
Protein Domains
Connexin N-terminal   Gap junction protein cysteine-rich

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P21994-F1-model_v2 AlphaFold P21994 1-226 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

Promoters
RGD ID:13699717
Promoter ID:EPDNEW_R10240
Type:multiple initiation site
Name:Gjb2_1
Description:gap junction protein, beta 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.01537,383,288 - 37,383,348EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:728891 AgrOrtholog
BioCyc Gene G2FUF-13609 BioCyc
Ensembl Genes ENSRNOG00000008855 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSRNOT00000011711 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSRNOT00000104368 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1440.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
IMAGE_CLONE IMAGE:7110122 IMAGE-MGC_LOAD
InterPro Connexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin26 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_CCC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:394266 UniProtKB/Swiss-Prot
MGC_CLONE MGC:93804 IMAGE-MGC_LOAD
NCBI Gene 394266 ENTREZGENE
PANTHER GAP JUNCTION BETA-2 PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11984 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Connexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Gjb2 PhenoGen
PRINTS CONNEXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CONNEXINB2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CONNEXINS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CONNEXINS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RatGTEx ENSRNOG00000008855 RatGTEx
SMART CNX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_CCC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A654IDU4 ENTREZGENE, UniProtKB/TrEMBL
  A6KHA9 ENTREZGENE, UniProtKB/TrEMBL
  CXB2_RAT UniProtKB/Swiss-Prot, ENTREZGENE
  Q80XF9_RAT UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2008-05-20 Gjb2  gap junction protein, beta 2  Gjb2  gap junction membrane channel protein beta 2  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2004-12-14 Gjb2  gap junction membrane channel protein beta 2      Symbol and Name status set to approved 1299863 APPROVED
2004-10-28 Gjb2  gap junction membrane channel protein beta 2  Cx26  gap junction channel protein connexin 26  Data merged from RGD:727824 737654 PROVISIONAL

RGD Curation Notes
Note Type Note Reference
gene_expression expressed in epididymis of young animals; present between adjacent epithelial cells of the epididymis 628541
gene_physical_interaction interacts with other subunits as homomers and heteromers to form gap junction 628541
gene_process may play a role in epididymal development 628541
gene_regulation mRNA appears only in the caput-corpus region of the epididymis and increases by fivefold during the first 4 week postnatally, and eventually diminishes 628541