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

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Gene: Gjb2 (gap junction protein, beta 2) Mus musculus
Analyze
Symbol: Gjb2
Name: gap junction protein, beta 2
RGD ID: 1550135
MGI Page MGI
Description: Enables gap junction channel activity. Involved in cell-cell signaling and gap junction-mediated intercellular transport. Acts upstream of or within gap junction assembly. Located in gap junction and plasma membrane. Part of connexin complex. Is expressed in several structures, including alimentary system; ear; genitourinary system; meninges; and skin. Used to study autosomal dominant keratitis-ichthyosis-deafness syndrome and autosomal recessive nonsyndromic deafness 1A. 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).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AI325222; Cnx26; connexin 26; connexin e; connexin-26; Cx26; Cxne; gap junction beta-2 protein; gap junction membrane channel protein beta 2; Gjb-2
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
autism spectrum disorder  (ISO)
autoimmune thyroiditis  (ISO)
autosomal dominant keratitis-ichthyosis-deafness syndrome  (IAGP,IMP,ISO)
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  (IAGP,ISO)
autosomal recessive nonsyndromic deafness 1B  (ISO)
Bart-Pumphrey syndrome  (ISO)
cataract 14 multiple types  (ISO)
cellulitis  (ISO)
Clouston syndrome  (ISO)
Deafness  (IMP,ISO)
ectodermal dysplasia  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Neoplasms  (ISO)
extrahepatic cholestasis  (ISO)
genetic disease  (ISO)
Hearing Loss  (ISO)
Hearing Loss, Noise-Induced  (ISO)
hepatocellular carcinoma  (ISO)
HID Syndrome  (ISO)
hidradenitis suppurativa  (ISO)
ichthyosis  (ISO)
ichthyosis follicularis-alopecia-photophobia syndrome 1  (ISO)
ischemia  (ISO)
keratitis  (ISO)
Keratitis-Ichthyosis-Deafness Syndrome  (ISO)
lung adenocarcinoma  (ISO)
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  (ISO)
psoriasis  (ISO)
Pulmonary Arterial Hypertension  (ISO)
sensorineural hearing loss  (ISO)
Skin Neoplasms  (ISO)
urethral obstruction  (ISO)
Vohwinkel syndrome  (IMP,ISO)
X-linked deafness 2  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (EXP)
1,2-dimethylhydrazine  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2,6-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (EXP)
8-Br-cAMP  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
amitrole  (ISO)
arsenite(3-)  (ISO)
atrazine  (ISO)
benzo[a]pyrene  (ISO)
benzo[e]pyrene  (ISO)
Benzoyl peroxide  (EXP)
bis(2-chloroethyl) sulfide  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bromobenzene  (ISO)
butan-1-ol  (ISO)
butanal  (ISO)
cadmium sulfate  (EXP)
calcitriol  (ISO)
carbamazepine  (ISO)
carbon nanotube  (EXP,ISO)
chenodeoxycholic acid  (ISO)
chloral hydrate  (ISO)
chlordecone  (EXP)
chloropicrin  (ISO)
chloroquine  (ISO)
cisplatin  (EXP,ISO)
cocaine  (ISO)
coumarin  (ISO)
Cuprizon  (ISO)
cyclosporin A  (ISO)
deoxycholic acid  (ISO)
dibutyl phthalate  (ISO)
dieldrin  (ISO)
diethylstilbestrol  (EXP)
diisononyl phthalate  (EXP)
dimethyl sulfoxide  (ISO)
dioxygen  (ISO)
dorsomorphin  (ISO)
endosulfan  (ISO)
entinostat  (ISO)
ethylparaben  (ISO)
flutamide  (ISO)
fonofos  (ISO)
fulvestrant  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
glycochenodeoxycholic acid  (ISO)
glycocholic acid  (ISO)
glycodeoxycholic acid  (ISO)
Heptachlor epoxide  (ISO)
hexachlorobenzene  (ISO)
Indeno[1,2,3-cd]pyrene  (ISO)
inulin  (EXP)
isobutanol  (ISO)
ketoconazole  (ISO)
lead nitrate  (EXP)
limonene  (ISO)
lipopolysaccharide  (ISO)
mercury dibromide  (ISO)
mercury dichloride  (ISO)
methapyrilene  (ISO)
methimazole  (ISO)
N-ethyl-N-nitrosourea  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-nitrosodiethylamine  (EXP,ISO)
N-nitrosodimethylamine  (ISO)
nefazodone  (ISO)
ochratoxin A  (ISO)
okadaic acid  (EXP)
oleamide  (ISO)
oxaliplatin  (ISO)
paclitaxel  (ISO)
panobinostat  (ISO)
paracetamol  (EXP,ISO)
parathion  (ISO)
pentanal  (ISO)
perfluorohexanesulfonic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
phenobarbital  (EXP)
phenylmercury acetate  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
pirinixic acid  (ISO)
progesterone  (EXP,ISO)
propanal  (ISO)
propiconazole  (EXP,ISO)
raloxifene  (EXP)
resveratrol  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (ISO)
SB 431542  (ISO)
scopolamine  (ISO)
silicon dioxide  (ISO)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
sodium dodecyl sulfate  (ISO)
sulfadimethoxine  (ISO)
Sunset Yellow FCF  (ISO)
tamoxifen  (EXP)
tartrazine  (ISO)
temozolomide  (ISO)
terbufos  (ISO)
tert-butyl hydroperoxide  (ISO)
testosterone  (ISO)
thioacetamide  (ISO)
titanium dioxide  (EXP)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (ISO)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (EXP)
vinclozolin  (ISO)
zearalenone  (ISO)
zoledronic acid  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
astrocyte projection  (IEA,ISO)
cell body  (IEA,ISO)
cell junction  (ISO)
connexin complex  (IBA,IDA,ISO,ISS)
gap junction  (IDA,ISO)
lateral plasma membrane  (IEA,ISO)
perinuclear region of cytoplasm  (IEA,ISO)
plasma membrane  (IDA,ISO,ISS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal cochlea morphology  (IAGP)
abnormal cochlear endolymph ionic homeostasis  (IAGP)
abnormal cochlear inner hair cell morphology  (IAGP)
abnormal ear physiology  (IAGP)
abnormal hair cell physiology  (IAGP)
abnormal inner hair cell synaptic ribbon morphology  (IAGP)
abnormal interdental cell morphology  (IAGP)
abnormal lymphatic vessel morphology  (IAGP)
abnormal mesenchyme morphology  (IAGP)
abnormal nail morphology  (IAGP)
abnormal placenta development  (IAGP)
abnormal placental labyrinth vasculature morphology  (IAGP)
abnormal placental transport  (IAGP)
abnormal plasma membrane morphology  (IAGP)
abnormal skin morphology  (IAGP)
abnormal tail morphology  (IAGP)
absent lymphatic vessels  (IAGP)
absent mandible  (IAGP)
cochlear degeneration  (IAGP)
cochlear ganglion degeneration  (IAGP)
cochlear hair cell degeneration  (IAGP)
cochlear outer hair cell degeneration  (IAGP)
deafness  (IAGP)
decreased body size  (IAGP)
decreased embryo size  (IAGP)
decreased endocochlear potential  (IAGP)
decreased fetal size  (IAGP)
decreased placental labyrinth size  (IAGP)
degeneration of organ of Corti supporting cells  (IAGP)
embryonic growth retardation  (IAGP)
embryonic lethality during organogenesis, complete penetrance  (IAGP)
epidermal hyperplasia  (IAGP)
female infertility  (IAGP)
fetal growth retardation  (IAGP)
hyperkeratosis  (IAGP)
impaired hearing  (IAGP)
impaired skin barrier function  (IAGP)
increased keratinocyte proliferation  (IAGP)
increased or absent threshold for auditory brainstem response  (IAGP)
lethality throughout fetal growth and development, complete penetrance  (IAGP)
lymphedema  (IAGP)
no abnormal phenotype detected  (IAGP)
organ of Corti degeneration  (IAGP)
postnatal lethality, incomplete penetrance  (IAGP)
prenatal lethality, complete penetrance  (IAGP)
prenatal lethality, incomplete penetrance  (IAGP)
scaly skin  (IAGP)
sensorineural hearing loss  (IAGP)
shiny skin  (IAGP)
short tail  (IAGP)
thick epidermis  (IAGP)
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. 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.
6. 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.
7. 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.
8. 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.
9. Reduced cell-cell communication in experimentally induced autoimmune thyroid disease. Green LM, etal., Endocrinology. 1996 Jul;137(7):2823-32.
10. 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.
11. Four novel members of the connexin family of gap junction proteins. Molecular cloning, expression, and chromosome mapping. Haefliger JA, etal., J Biol Chem 1992 Jan 25;267(3):2057-64.
12. 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.
13. 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.
14. 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.
15. 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.
16. 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.
17. 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.
18. 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.
19. 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.
20. 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.
21. 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.
22. 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.
23. 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.
24. 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.
25. MGDs mouse GO annotations MGD data from the GO Consortium
26. MGD IEA MGD IEA
27. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
28. 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.
29. 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.
30. [Progressive Hearing Impairment with Deletion in GJB2 Gene Despite Normal Newborn Hearing Screening.] Prera N, etal., Laryngorhinootologie. 2013 Sep 10.
31. Mouse MP Annotation Import Pipeline RGD automated import pipeline
32. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
33. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
34. 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.
35. 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.
36. 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.
37. 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.
38. 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.
39. 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.
40. 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.
41. 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.
42. 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.
43. 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.
44. 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.
Additional References at PubMed
PMID:1303276   PMID:1319348   PMID:1322820   PMID:1332196   PMID:1332989   PMID:1338686   PMID:1425357   PMID:1664214   PMID:1849321   PMID:2060697   PMID:7654373   PMID:7664837  
PMID:7788845   PMID:7889986   PMID:8014476   PMID:8245504   PMID:8453108   PMID:8622914   PMID:8631157   PMID:8735949   PMID:8834803   PMID:8856922   PMID:8935156   PMID:8978770  
PMID:9139825   PMID:9415427   PMID:9508777   PMID:9555025   PMID:9861669   PMID:10079507   PMID:10099690   PMID:10196667   PMID:10209481   PMID:10349636   PMID:10623655   PMID:10673337  
PMID:10751667   PMID:10764796   PMID:10805080   PMID:11042159   PMID:11076861   PMID:11217851   PMID:11501764   PMID:11781569   PMID:11850622   PMID:12064619   PMID:12121617   PMID:12466851  
PMID:12477932   PMID:12801416   PMID:12829745   PMID:12859965   PMID:14595769   PMID:14681012   PMID:14681042   PMID:14681479   PMID:14686892   PMID:15013803   PMID:15081111   PMID:15255617  
PMID:15265710   PMID:15457338   PMID:15466892   PMID:15489334   PMID:15692151   PMID:15782199   PMID:15895417   PMID:16103213   PMID:16141072   PMID:16141073   PMID:16217030   PMID:16579977  
PMID:16601118   PMID:16628254   PMID:16740338   PMID:16806848   PMID:17029244   PMID:17130451   PMID:17227867   PMID:17290388   PMID:17601673   PMID:17640036   PMID:17693411   PMID:17702002  
PMID:17961533   PMID:18231833   PMID:18287559   PMID:18308698   PMID:18353863   PMID:18508043   PMID:18793701   PMID:18829945   PMID:19022256   PMID:19047635   PMID:19047647   PMID:19050930  
PMID:19197295   PMID:19433060   PMID:19564597   PMID:19673007   PMID:19712724   PMID:19743445   PMID:19864490   PMID:20089884   PMID:20346939   PMID:20510229   PMID:20685850   PMID:20703012  
PMID:20930145   PMID:21267068   PMID:21423764   PMID:21478159   PMID:21606200   PMID:21714813   PMID:21807945   PMID:21813206   PMID:21832197   PMID:21873635   PMID:21876744   PMID:21925491  
PMID:21983115   PMID:22032925   PMID:22098503   PMID:22142852   PMID:22496425   PMID:22505190   PMID:22513384   PMID:22967998   PMID:23589895   PMID:23590695   PMID:23627777   PMID:23653198  
PMID:23687377   PMID:23917463   PMID:24333301   PMID:24387126   PMID:24491564   PMID:24590285   PMID:24700326   PMID:24727668   PMID:24732355   PMID:24866916   PMID:24952082   PMID:24988191  
PMID:25251605   PMID:25451287   PMID:25801282   PMID:25862083   PMID:26035172   PMID:26067236   PMID:26070424   PMID:26075897   PMID:26107991   PMID:26203858   PMID:26232528   PMID:26439696  
PMID:26490746   PMID:26709778   PMID:26777423   PMID:26927086   PMID:26965868   PMID:27488639   PMID:27623246   PMID:27840044   PMID:27959894   PMID:27965054   PMID:28060940   PMID:28077706  
PMID:28265099   PMID:28320871   PMID:28552523   PMID:28569788   PMID:28701711   PMID:28779115   PMID:28823936   PMID:29107558   PMID:29361521   PMID:29624127   PMID:29866044   PMID:30013986  
PMID:30041406   PMID:30150563   PMID:30181354   PMID:30199819   PMID:30452456   PMID:30518746   PMID:30732922   PMID:31001720   PMID:31034913   PMID:31562289   PMID:32127020   PMID:32408529  
PMID:32958814   PMID:33505961   PMID:33964205   PMID:34321999   PMID:34639052   PMID:34907797   PMID:35308122   PMID:35345836   PMID:35372344   PMID:35388219   PMID:35681537   PMID:35790771  
PMID:35831953   PMID:36343245   PMID:36398730   PMID:36445537   PMID:36699003   PMID:36736132   PMID:36753545   PMID:37178259   PMID:37279265   PMID:37368868   PMID:37528140   PMID:37681746  
PMID:38602877  


Genomics

Comparative Map Data
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
(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
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81535,375,977 - 35,393,817 (-)NCBIGRCr8
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
(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_mPanPan1-v21419,817,860 - 19,823,690 (-)NCBINHGRI_mPanPan1-v2
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
172 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:488
Count of miRNA genes:338
Interacting mature miRNAs:392
Transcripts:ENSMUST00000055698
Prediction methods:Miranda, Rnahybrid, 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 (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357589Kdnw2_mkidney weight 2 (mouse)Not determined1420887473121269804Mouse
1301489Lbm10_mlean body mass 10 (mouse)Not determined145376129687761529Mouse
1301777Bglq15_mbody growth late QTL 15 (mouse)Not determined144296241676962593Mouse
1300625Cosz2_mcocaine seizure 2 (mouse)Not determined143504579768785736Mouse
1301424Skull21_mskull morphology 21 (mouse)Not determined144296241676962593Mouse
1357527Epfpq1_mepididymal fat percentage QTL 1 (mouse)Not determined142106245071885801Mouse
4142364Pbwg18_mpostnatal body weight growth 18 (mouse)Not determined145228198486282125Mouse
4141400Nilac8_mnicotine induced locomotor activity 8 (mouse)Not determined144306584777066045Mouse
10043889Cia52_mcollagen induced arthritis QTL 52 (mouse)Not determined145608238190082509Mouse
1301562Hwq1_mheart weight quantitative locus 1 (mouse)Not determined145654674590546941Mouse
27226774Tibl15_mtibia length 15, 10 week (mouse)143032195787937436Mouse
4142485Modor2_mmodifier of ocular retardation 2 (mouse)Not determined142492624858179769Mouse
4142419Tgq26_mtriglyceride QTL 26 (mouse)Not determined4033731974337319Mouse
1300605El5_mepilepsy 5 (mouse)Not determined144945542583455556Mouse
27226737Metcl12_mmetatarsal-calcaneal length 12, 10 week (mouse)143322195759437449Mouse
1301091Bbaa21_mB.burgdorferi-associated arthritis 21 (mouse)Not determined144306584777066045Mouse
4141484Hcbip1_mhexachlorobenzene induced porphyria 1 (mouse)Not determined4733525059962593Mouse
12880432Fgf23lq3_mFGF23 serum level QTL 3 (mouse)145393744087937440Mouse
1300998Cia17_mcollagen induced arthritis 17 (mouse)Not determined143033525064335381Mouse
1300805Mors3_mmodifier of obesity related sterility 3 (mouse)Not determined144303727077037418Mouse
10043887Cia50_mcollagen induced arthritis QTL 50 (mouse)Not determined143743018571430320Mouse
10043886Cia49_mcollagen induced arthritis QTL 49 (mouse)Not determined142999699463997133Mouse
1300909Ath13_matherosclerosis 13 (mouse)Not determined143033525064335381Mouse
13506929Recrq10_mrecombination rate in male meiosis QTL 10 (mouse)142792195761137449Mouse

Markers in Region
RH129172  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381457,100,761 - 57,100,939UniSTSGRCm38
MGSCv371457,719,598 - 57,719,776UniSTSGRCm37
Celera1454,891,349 - 54,891,527UniSTS
Cytogenetic Map14D1-E1UniSTS
AI325222  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381457,098,945 - 57,099,062UniSTSGRCm38
MGSCv371457,717,782 - 57,717,899UniSTSGRCm37
Celera1454,889,533 - 54,889,650UniSTS
Cytogenetic Map14D1-E1UniSTS
Whitehead/MRC_RH14651.8UniSTS
M81445  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381457,099,809 - 57,099,977UniSTSGRCm38
MGSCv371457,718,646 - 57,718,814UniSTSGRCm37
Celera1454,890,397 - 54,890,565UniSTS
Cytogenetic Map14D1-E1UniSTS
Whitehead_YAC14 UniSTS
D14Mit83  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381457,105,026 - 57,105,230UniSTSGRCm38
MGSCv371457,723,863 - 57,724,067UniSTSGRCm37
Celera1454,895,607 - 54,895,811UniSTS
Cytogenetic Map14D1-E1UniSTS
cM Map1421.0UniSTS
Whitehead Genetic1430.6UniSTS
Whitehead/MRC_RH14650.08UniSTS
Whitehead_YAC14 UniSTS
Gjb2  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14D1-E1UniSTS
cM Map1421.0UniSTS
Gjb2  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14D1-E1UniSTS
cM Map1421.0UniSTS
Gjb2  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14D1-E1UniSTS


Expression

RNA-SEQ Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_008125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC119952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK133942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK135055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK146485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK157920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK160905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK178984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK189228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BB756861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT990377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M63803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M81444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M81445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL679536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENSMUST00000055698   ⟹   ENSMUSP00000054343
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1457,336,057 - 57,342,159 (-)Ensembl
GRCm38.p6 Ensembl1457,098,600 - 57,104,702 (-)Ensembl
RefSeq Acc Id: NM_008125   ⟹   NP_032151
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391457,336,059 - 57,342,159 (-)NCBI
GRCm381457,098,602 - 57,104,702 (-)ENTREZGENE
MGSCv371457,717,439 - 57,723,539 (-)RGD
Celera1454,889,190 - 54,895,282 (-)RGD
cM Map14 ENTREZGENE
Sequence:
RefSeq Acc Id: NP_032151   ⟸   NM_008125
- UniProtKB: Q00977 (UniProtKB/Swiss-Prot),   Q3UJE9 (UniProtKB/TrEMBL),   Q3TZE5 (UniProtKB/TrEMBL),   Q3UY12 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSMUSP00000054343   ⟸   ENSMUST00000055698
Protein Domains
Connexin N-terminal   Gap junction protein cysteine-rich

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q00977-F1-model_v2 AlphaFold Q00977 1-226 view protein structure

Promoters
RGD ID:8682542
Promoter ID:EPDNEW_M19301
Type:initiation region
Name:Gjb2_1
Description:Mus musculus gap junction protein, beta 2 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381457,104,701 - 57,104,761EPDNEW
RGD ID:6824952
Promoter ID:MM_KWN:17050
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Kidney,   Liver,   Lung,   MEF_B4
Transcripts:NM_008125
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361457,723,149 - 57,723,649 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:95720 AgrOrtholog
Ensembl Genes ENSMUSG00000046352 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000055698 ENTREZGENE
  ENSMUST00000055698.8 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1440.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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 mmu:14619 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:95720 ENTREZGENE
NCBI Gene 14619 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
SMART CNX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_CCC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt CXB2_MOUSE UniProtKB/Swiss-Prot, ENTREZGENE
  Q3TZE5 ENTREZGENE, UniProtKB/TrEMBL
  Q3UJE9 ENTREZGENE, UniProtKB/TrEMBL
  Q3UY12 ENTREZGENE, UniProtKB/TrEMBL