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| # | Reference Title | Reference Citation |
| 1. | Upregulation of connexins 30 and 32 gap junctions in rat hippocampus at transcription level by chronic central injection of lipopolysaccharide. | Abbasian M, etal., Iran Biomed J. 2012;16(3):127-32. doi: 10.6091/ibj.1099.2012. |
| 2. | Expression of connexin 30 and connexin 32 in hippocampus of rat during epileptogenesis in a kindling model of epilepsy. | Akbarpour B, etal., Neurosci Bull. 2012 Dec;28(6):729-36. doi: 10.1007/s12264-012-1279-6. Epub 2012 Nov 12. |
| 3. | Reduced gap junctional communication among astrocytes in experimental diabetes: contributions of altered connexin protein levels and oxidative-nitrosative modifications. | Ball KK, etal., J Neurosci Res. 2011 Dec;89(12):2052-67. doi: 10.1002/jnr.22663. Epub 2011 May 2. |
| 4. | 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. |
| 5. | 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. |
| 6. | Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss. | Chen P, etal., Int J Pediatr Otorhinolaryngol. 2012 Feb;76(2):265-7. doi: 10.1016/j.ijporl.2011.11.018. Epub 2011 Dec 18. |
| 7. | Connexin-30 mRNA is up-regulated in astrocytes and expressed in apoptotic neuronal cells of rat brain following kainate-induced seizures. | Condorelli DF, etal., Mol Cell Neurosci 2002 Sep;21(1):94-113. |
| 8. | 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. |
| 9. | 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. |
| 10. | 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. |
| 11. | Hydrogen supplemented air inhalation reduces changes of prooxidant enzyme and gap junction protein levels after transient global cerebral ischemia in the rat hippocampus. | Hugyecz M, etal., Brain Res. 2011 Aug 2;1404:31-8. Epub 2011 Jun 12. |
| 12. | Layer specific changes of astroglial gap junctions in the rat cerebellar cortex by persistent Borna Disease Virus infection. | Koster-Patzlaff C, etal., Brain Res. 2008 Jul 11;1219:143-58. doi: 10.1016/j.brainres.2008.04.062. Epub 2008 Apr 30. |
| 13. | Mutations in GJB6 cause hidrotic ectodermal dysplasia. | Lamartine J, etal., Nat Genet. 2000 Oct;26(2):142-4. |
| 14. | Developmental expression patterns of connexin26 and -30 in the rat cochlea. | Lautermann J, etal., Dev Genet. 1999;25(4):306-11. |
| 15. | 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. |
| 16. | High glucose-induced downregulation of connexin 30.2 promotes retinal vascular lesions: implications for diabetic retinopathy. | Manasson J, etal., Invest Ophthalmol Vis Sci. 2013 Mar 28;54(3):2361-6. doi: 10.1167/iovs.12-10815. |
| 17. | Connexin 30 expression and frequency of connexin heterogeneity in astrocyte gap junction plaques increase with age in the rat retina. | Mansour H, etal., PLoS One. 2013;8(3):e57038. doi: 10.1371/journal.pone.0057038. Epub 2013 Mar 14. |
| 18. | 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. |
| 19. | Localization of connexin 30 in the luminal membrane of cells in the distal nephron. | McCulloch F, etal., Am J Physiol Renal Physiol. 2005 Dec;289(6):F1304-12. Epub 2005 Aug 2. |
| 20. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 21. | Connexin30 in rodent, cat and human brain: selective expression in gray matter astrocytes, co-localization with connexin43 at gap junctions and late developmental appearance. | Nagy JI, etal., Neuroscience. 1999 Jan;88(2):447-68. |
| 22. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 23. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 24. | Rat gap junction connexin-30 inhibits proliferation of glioma cell lines. | Princen F, etal., Carcinogenesis. 2001 Mar;22(3):507-13. |
| 25. | 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. |
| 26. | GOA pipeline | RGD automated data pipeline |
| 27. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 28. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 29. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 30. | The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice. | Schutz M, etal., Hum Mol Genet. 2010 Dec 15;19(24):4759-73. doi: 10.1093/hmg/ddq402. Epub 2010 Sep 21. |
| 31. | Expression of connexins in the normal and obstructed developing kidney. | Silverstein DM, etal., Pediatr Nephrol. 2003 Mar;18(3):216-24. Epub 2003 Feb 7. |
| 32. | 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. |
| 33. | Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential. | Teubner B, etal., Hum Mol Genet. 2003 Jan 1;12(1):13-21. |
| 34. | Differential expression of hippocampal connexins after acute hypoxia in the developing brain. | Zeinieh MP, etal., Brain Dev. 2010 Nov;32(10):810-7. doi: 10.1016/j.braindev.2009.11.003. Epub 2010 Jan 19. |
| PMID:12767933 | PMID:14595769 | PMID:19285977 | PMID:20089884 | PMID:22871113 | PMID:24301293 | PMID:24590285 | PMID:27130897 | PMID:28875331 | PMID:32462383 |
| Gjb6 (Rattus norvegicus - Norway rat) |
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| GJB6 (Homo sapiens - human) |
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| Gjb6 (Mus musculus - house mouse) |
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| Gjb6 (Chinchilla lanigera - long-tailed chinchilla) |
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| GJB6 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| GJB6 (Canis lupus familiaris - dog) |
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| Gjb6 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| GJB6 (Sus scrofa - pig) |
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| GJB6 (Chlorocebus sabaeus - green monkey) |
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| Gjb6 (Heterocephalus glaber - naked mole-rat) |
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| Gjb6 (Rattus rattus - black rat) |
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.
Variants in Gjb6
128 total Variants
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| 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. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| RH131114 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 5 | 9 | 34 | 136 | 55 | 59 | 29 | 23 | 29 | 6 | 180 | 76 | 10 | 113 | 62 | 84 | 30 | 3 | 3 |
| RefSeq Transcripts | NM_001393806 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_053388 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006252080 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008770781 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008770782 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017599810 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063274731 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AF170284 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| BC078753 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH474049 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000015 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| LT990398 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000011742 ⟹ ENSRNOP00000011828 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000081757 ⟹ ENSRNOP00000071038 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000094969 ⟹ ENSRNOP00000097059 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000099568 ⟹ ENSRNOP00000086326 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000139621 ⟹ ENSRNOP00000108582 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001393806 ⟹ NP_001380735 | ||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | NM_053388 ⟹ NP_445840 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_006252080 ⟹ XP_006252142 | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_063274731 ⟹ XP_063130801 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Protein RefSeqs | NP_001380735 | (Get FASTA) | NCBI Sequence Viewer |
| NP_445840 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006252142 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063130801 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAD50911 | (Get FASTA) | NCBI Sequence Viewer |
| AAH78753 | (Get FASTA) | NCBI Sequence Viewer | |
| EDM14340 | (Get FASTA) | NCBI Sequence Viewer | |
| EDM14341 | (Get FASTA) | NCBI Sequence Viewer | |
| EDM14342 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000011828.2 | ||
| ENSRNOP00000071038 | |||
| ENSRNOP00000071038.1 | |||
| ENSRNOP00000086326.1 | |||
| ENSRNOP00000108582 | |||
| ENSRNOP00000108582.1 | |||
| GenBank Protein | VZP20198 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_445840 ⟸ NM_053388 |
| - UniProtKB: | Q6AZ42 (UniProtKB/TrEMBL), A6KHB3 (UniProtKB/TrEMBL), Q9R140 (UniProtKB/TrEMBL), A6KHB2 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_006252142 ⟸ XM_006252080 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q6AZ42 (UniProtKB/TrEMBL), A6KHB3 (UniProtKB/TrEMBL), Q9R140 (UniProtKB/TrEMBL), A6KHB2 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000011828 ⟸ ENSRNOT00000011742 |
| Ensembl Acc Id: | ENSRNOP00000071038 ⟸ ENSRNOT00000081757 |
| Ensembl Acc Id: | ENSRNOP00000097059 ⟸ ENSRNOT00000094969 |
| Ensembl Acc Id: | ENSRNOP00000086326 ⟸ ENSRNOT00000099568 |
| RefSeq Acc Id: | NP_001380735 ⟸ NM_001393806 |
| - UniProtKB: | Q6AZ42 (UniProtKB/TrEMBL), A6KHB3 (UniProtKB/TrEMBL), Q9R140 (UniProtKB/TrEMBL), A6KHB2 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063130801 ⟸ XM_063274731 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A6KHB2 (UniProtKB/TrEMBL), A6KHB3 (UniProtKB/TrEMBL), Q6AZ42 (UniProtKB/TrEMBL), Q9R140 (UniProtKB/TrEMBL) |
| Ensembl Acc Id: | ENSRNOP00000108582 ⟸ ENSRNOT00000139621 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-Q6AZ42-F1-model_v2 | AlphaFold | Q6AZ42 | 1-261 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:621830 | AgrOrtholog |
| BioCyc Gene | G2FUF-13608 | BioCyc |
| Ensembl Genes | ENSRNOG00000022116 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000011742.5 | UniProtKB/TrEMBL |
| ENSRNOT00000081757 | ENTREZGENE | |
| ENSRNOT00000081757.3 | UniProtKB/TrEMBL | |
| ENSRNOT00000099568.2 | UniProtKB/TrEMBL | |
| ENSRNOT00000139621 | ENTREZGENE | |
| ENSRNOT00000139621.1 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 1.20.1440.80 | UniProtKB/TrEMBL |
| IMAGE_CLONE | IMAGE:7132296 | IMAGE-MGC_LOAD |
| InterPro | Connexin | UniProtKB/TrEMBL |
| Connexin_CCC | UniProtKB/TrEMBL | |
| Connexin_CS | UniProtKB/TrEMBL | |
| Connexin_N | UniProtKB/TrEMBL | |
| Connexin_N_sf | UniProtKB/TrEMBL | |
| MGC_CLONE | MGC:93246 | IMAGE-MGC_LOAD |
| NCBI Gene | 84403 | ENTREZGENE |
| PANTHER | Connexin | UniProtKB/TrEMBL |
| GAP JUNCTION BETA-6 PROTEIN | UniProtKB/TrEMBL | |
| Pfam | Connexin | UniProtKB/TrEMBL |
| PhenoGen | Gjb6 | PhenoGen |
| PRINTS | CONNEXIN | UniProtKB/TrEMBL |
| PROSITE | CONNEXINS_1 | UniProtKB/TrEMBL |
| CONNEXINS_2 | UniProtKB/TrEMBL | |
| RatGTEx | ENSRNOG00000022116 | RatGTEx |
| SMART | CNX | UniProtKB/TrEMBL |
| Connexin_CCC | UniProtKB/TrEMBL | |
| UniProt | A6KHB2 | ENTREZGENE, UniProtKB/TrEMBL |
| A6KHB3 | ENTREZGENE | |
| Q6AZ42 | ENTREZGENE, UniProtKB/TrEMBL | |
| Q9R140 | ENTREZGENE, UniProtKB/TrEMBL | |
| UniProt Secondary | A6KHB3 | UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2008-05-20 | Gjb6 | gap junction protein, beta 6 | Gjb6 | gap junction membrane channel protein beta 6 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2005-01-20 | Gjb6 | gap junction membrane channel protein beta 6 | gap junction protein, beta 6 (connexin 30) | Name updated | 1299863 | APPROVED | |
| 2002-08-07 | Gjb6 | gap junction protein, beta 6 (connexin 30) | Symbol and Name status set to provisional | 70820 | PROVISIONAL |
| Note Type | Note | Reference |
|---|---|---|
| gene_expression | expressed in grey matter astrocytes of the brain | 632751 |
| gene_expression | expressed in adult epididymis | 628541 |
| gene_regulation | enhanced expression in neuronal cells undergoing cell death by kainate-induced seizures | 632751 |