GJB2: Difference between revisions

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{{Infobox_gene}}
{{Infobox_gene}}
'''Gap junction beta-2 protein''' (GJB2), also known as '''[[connexin]] 26''' (Cx26) — is a [[protein]] that in humans is encoded by the ''GJB2'' [[gene]]. Defects in this gene lead to the most common form of congenital [[deafness]] in developed countries, called DFNB1 (also known as connexin 26 deafness or ''GJB2''-related deafness).<ref>{{Cite journal|last=Kelsell|first=D. P.|last2=Dunlop|first2=J.|last3=Stevens|first3=H. P.|last4=Lench|first4=N. J.|last5=Liang|first5=J. N.|last6=Parry|first6=G.|last7=Mueller|first7=R. F.|last8=Leigh|first8=I. M.|date=1997-05-01|title=Connexin 26 mutations in hereditary non-syndromic sensorineural deafness|url=http://www.nature.com/nature/journal/v387/n6628/abs/387080a0.html|journal=Nature|language=en|volume=387|issue=6628|pages=80–83|doi=10.1038/387080a0}}</ref>
'''Gap junction beta-2 protein''' (GJB2), also known as '''[[connexin]] 26''' (Cx26) — is a [[protein]] that in humans is encoded by the ''GJB2'' [[gene]].
 
== Clinical significance ==
 
Defects in this gene lead to the most common form of congenital [[deafness]] in developed countries, called DFNB1 (also known as connexin 26 deafness or ''GJB2''-related deafness).<ref>{{cite journal | vauthors = Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM | title = Connexin 26 mutations in hereditary non-syndromic sensorineural deafness | journal = Nature | volume = 387 | issue = 6628 | pages = 80–3 | date = May 1997 | pmid = 9139825 | doi = 10.1038/387080a0 | url = http://www.nature.com/nature/journal/v387/n6628/abs/387080a0.html }}</ref>
 
Connexin 26 also plays a role in [[Tumor suppressor gene|tumor suppression]] through mediation of the cell cycle.<ref>{{Cite journal|last=Tanaka,Motoyoshi|last2=Barton|first2=Grossman,H.|date=2004-02-01|title=Connexin 26 induces growth suppression, apoptosis and increased efficacy of doxorubicin in prostate cancer cells|url=https://www.spandidos-publications.com/or/11/2/537|journal=Oncology Reports|volume=11|issue=2|issn=1021-335X}}</ref> The abnormal expression of Cx26, correlated with several types of human [[Cancer|cancers]], may serve as a prognostic factor for cancers such as colorectal cancer,<ref>{{cite journal | vauthors = Nomura S, Maeda K, Noda E, Inoue T, Fukunaga S, Nagahara H, Hirakawa K | title = Clinical significance of the expression of connexin26 in colorectal cancer | journal = Journal of Experimental & Clinical Cancer Research | volume = 29 | pages = 79 | date = June 2010 | pmid = 20565955 | doi = 10.1186/1756-9966-29-79 | url = https://doi.org/10.1186/1756-9966-29-79 }}</ref> breast cancer,<ref>{{cite journal | vauthors = Teleki I, Krenacs T, Szasz MA, Kulka J, Wichmann B, Leo C, Papassotiropoulos B, Riemenschnitter C, Moch H, Varga Z | title = The potential prognostic value of connexin 26 and 46 expression in neoadjuvant-treated breast cancer | journal = BMC Cancer | volume = 13 | pages = 50 | date = February 2013 | pmid = 23374644 | doi = 10.1186/1471-2407-13-50 | url = https://doi.org/10.1186/1471-2407-13-50 }}</ref> and bladder cancer.<ref>{{cite journal | vauthors = Gee J, Tanaka M, Grossman HB | title = Connexin 26 is abnormally expressed in bladder cancer | language = English | journal = The Journal of Urology | volume = 169 | issue = 3 | pages = 1135–7 | date = March 2003 | pmid = 12576868 | doi = 10.1097/01.ju.0000041954.91331.df | url = http://www.jurology.com/article/S0022-5347(05)63913-4/fulltext }}</ref> Furthermore, Cx26 over-expression is suggested to promote cancer development by facilitating cell migration and invasion<ref>{{cite journal | vauthors = Kotini M, Mayor R | title = Connexins in migration during development and cancer | journal = Developmental Biology | volume = 401 | issue = 1 | pages = 143–51 | date = May 2015 | pmid = 25553982 | doi = 10.1016/j.ydbio.2014.12.023 | url = https://www.sciencedirect.com/science/article/pii/S0012160614006538 }}</ref> and by stimulating the self-perpetuation ability of [[Cancer stem cell|cancer stem cells]].<ref>{{cite journal | vauthors = Thiagarajan PS, Sinyuk M, Turaga SM, Mulkearns-Hubert EE, Hale JS, Rao V, Demelash A, Saygin C, China A, Alban TJ, Hitomi M, Torre-Healy LA, Alvarado AG, Jarrar A, Wiechert A, Adorno-Cruz V, Fox PL, Calhoun BC, Guan JL, Liu H, Reizes O, Lathia JD | display-authors = 6 | title = Cx26 drives self-renewal in triple-negative breast cancer via interaction with NANOG and focal adhesion kinase | language = En | journal = Nature Communications | volume = 9 | issue = 1 | pages = 578 | date = February 2018 | pmid = 29422613 | doi = 10.1038/s41467-018-02938-1 | url = https://www.nature.com/articles/s41467-018-02938-1 }}</ref>


== Function ==
== Function ==
Gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels. Proteins, called connexins, purified from fractions of enriched gap junctions from different tissues differ. The connexins are designated by their molecular mass. Another system of nomenclature divides gap junction proteins into two categories, alpha and beta, according to sequence similarities at the nucleotide and amino acid levels. For example, CX43 (MIM 121014) is designated alpha-1 gap junction protein, whereas CX32 ([[GJB1]]; MIM 304040) and CX26 (this protein) are called beta-1 and beta-2 gap junction proteins, respectively. This nomenclature emphasizes that CX32 and CX26 are more homologous to each other than either of them is to [[Gap junction protein, alpha 1|CX43]].<ref>{{cite web | title = Entrez Gene: GJB2 gap junction protein, beta 2, 26kDa| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2706| accessdate = }}</ref>
[[Gap junction]]s were first characterized by [[electron microscopy]] as regionally specialized structures on [[plasma membrane]]s of contacting adherent cells. These structures were shown to consist of cell-to-cell channels. Proteins, called [[connexin]]s, purified from fractions of enriched gap junctions from different tissues differ. The connexins are designated by their molecular mass. Another system of nomenclature divides gap junction proteins into two categories, alpha and beta, according to sequence similarities at the nucleotide and amino acid levels. For example, CX43 ([[GJA1]]) is designated alpha-1 gap junction protein, whereas [[GJB1]] (CX32), and GJB2 (CX26; this protein) are called beta-1 and beta-2 gap junction proteins, respectively. This nomenclature emphasizes that GJB1 and GJB2 are more homologous to each other than either of them is to gap junction protein, alpha GJA1.<ref>{{cite web | title = Entrez Gene: GJB2 gap junction protein, beta 2, 26kDa| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2706 }}</ref>


==See also==
== See also ==
* [[Connexin]]
* [[Connexin]]
* [[Gap junction]]
* [[Gap junction]]
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* [[Bart–Pumphrey syndrome]]
* [[Bart–Pumphrey syndrome]]


==References==
== References ==
{{Reflist}}
{{Reflist}}


==Further reading==
== Further reading ==
{{Refbegin | 2}}
{{Refbegin | 2}}
*{{Cite journal |vauthors=Kenneson A, Van Naarden Braun K, Boyle C |title=GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. |journal=Genet. Med. |volume=4 |issue= 4 |pages= 258–74 |year= 2002 |pmid= 12172392 |doi= 10.1097/00125817-200207000-00004}}
* {{cite journal | vauthors = Kenneson A, Van Naarden Braun K, Boyle C | title = GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review | journal = Genetics in Medicine | volume = 4 | issue = 4 | pages = 258–74 | year = 2002 | pmid = 12172392 | doi = 10.1097/00125817-200207000-00004 }}
*{{Cite journal |vauthors=Thalmann R, Henzl MT, Killick R |title=Toward an understanding of cochlear homeostasis: the impact of location and the role of OCP1 and OCP2. |journal=Acta Otolaryngol. |volume=123 |issue= 2 |pages= 203–8 |year= 2003 |pmid= 12701741 |doi=10.1080/0036554021000028100 |display-authors=etal}}
* {{cite journal | vauthors = Thalmann R, Henzl MT, Killick R, Ignatova EG, Thalmann I | title = Toward an understanding of cochlear homeostasis: the impact of location and the role of OCP1 and OCP2 | journal = Acta Oto-Laryngologica | volume = 123 | issue = 2 | pages = 203–8 | date = January 2003 | pmid = 12701741 | doi = 10.1080/0036554021000028100 }}
*{{Cite journal |vauthors=Yotsumoto S, Hashiguchi T, Chen X |title=Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. |journal=Br. J. Dermatol. |volume=148 |issue= 4 |pages= 649–53 |year= 2003 |pmid= 12752120 |doi=10.1046/j.1365-2133.2003.05245.x |display-authors=etal}}
* {{cite journal | vauthors = Yotsumoto S, Hashiguchi T, Chen X, Ohtake N, Tomitaka A, Akamatsu H, Matsunaga K, Shiraishi S, Miura H, Adachi J, Kanzaki T | title = Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome | journal = The British Journal of Dermatology | volume = 148 | issue = 4 | pages = 649–53 | date = April 2003 | pmid = 12752120 | doi = 10.1046/j.1365-2133.2003.05245.x }}
*{{Cite journal |vauthors=Apps SA, Rankin WA, Kurmis AP |title=Connexin 26 mutations in autosomal recessive deafness disorders: a review. |journal=International journal of audiology |volume=46 |issue= 2 |pages= 75–81 |year= 2007 |pmid= 17365058 |doi= 10.1080/14992020600582190 }}
* {{cite journal | vauthors = Apps SA, Rankin WA, Kurmis AP | title = Connexin 26 mutations in autosomal recessive deafness disorders: a review | journal = International Journal of Audiology | volume = 46 | issue = 2 | pages = 75–81 | date = February 2007 | pmid = 17365058 | doi = 10.1080/14992020600582190 }}
*{{Cite journal |vauthors=Welch KO, Marin RS, Pandya A, Arnos KS |title=Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature. |journal=Am. J. Med. Genet. A |volume=143 |issue= 14 |pages= 1567–73 |year= 2007 |pmid= 17431919 |doi= 10.1002/ajmg.a.31701 }}
* {{cite journal | vauthors = Welch KO, Marin RS, Pandya A, Arnos KS | title = Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature | journal = American Journal of Medical Genetics. Part A | volume = 143A | issue = 14 | pages = 1567–73 | date = July 2007 | pmid = 17431919 | doi = 10.1002/ajmg.a.31701 }}
*{{Cite book|author1=Harris, A.  |author2=Locke, D. | title = Connexins, A Guide | publisher = Springer | year = 2009 | location = New York | pages = 574 | url = https://www.springer.com/978-1-934115-46-6  | isbn = 978-1-934115-46-6}}
* {{cite book | vauthors = Harris A, Locke D | title = Connexins, A Guide | publisher = Springer | year = 2009 | location = New York | pages = 574 | url = https://www.springer.com/978-1-934115-46-6  | isbn = 978-1-934115-46-6}}
{{Refend}}
* {{cite book |first1=Richard JH |last1=Smith |first2=A Eliot |last2=Shearer |first3=Michael S |last3=Hildebrand |first4=Guy |last4=Van Camp |date= January 2014 | name-list-format = vanc |title=Deafness and Hereditary Hearing Loss Overview |id=NBK1434 |url=https://www.ncbi.nlm.nih.gov/books/NBK1434/ }} In {{cite book |veditors=Pagon RA, Bird TD, Dolan CR |title=GeneReviews™ &#x05B;Internet&#x05D; |year=1993 |publisher=University of Washington, Seattle |location=Seattle WA |url=https://www.ncbi.nlm.nih.gov/books/n/gene/TOC/ |ref={{harvid|GeneReviews}}|display-editors=etal}}
 
* {{cite book |first1=Richard JH |last1=Smith |first2=Abraham M |last2=Sheffield |first3=Guy |last3=Van Camp | name-list-format = vanc |date=2012-04-19 |title=Nonsyndromic Hearing Loss and Deafness, DFNA3 |id=NBK1536 |url=https://www.ncbi.nlm.nih.gov/books/NBK1536/ }} In {{harvnb|GeneReviews}}
==External links==
* {{cite book |first1=Richard JH |last1=Smith |first2=Guy |last2=Van Camp | name-list-format = vanc |date=2014-01-02 |title=Nonsyndromic Hearing Loss and Deafness, DFNB1 |id=NBK1272 |url=https://www.ncbi.nlm.nih.gov/books/NBK1272/ }} In {{harvnb|GeneReviews}}
{{refbegin}}
*{{cite book |first1=Richard JH |last1=Smith |first2=A Eliot |last2=Shearer |first3=Michael S |last3=Hildebrand |first4=Guy |last4=Van Camp |date=2014-01-09 |title=Deafness and Hereditary Hearing Loss Overview |id=NBK1434 |url=https://www.ncbi.nlm.nih.gov/books/NBK1434/ }} In {{cite book |veditors=Pagon RA, Bird TD, Dolan CR |title=GeneReviews™ &#x05B;Internet&#x05D; |year=1993– |publisher=University of Washington, Seattle |location=Seattle WA |url=https://www.ncbi.nlm.nih.gov/books/n/gene/TOC/ |ref={{harvid|GeneReviews}}|display-editors=etal}}
*{{cite book |first1=Richard JH |last1=Smith |first2=Abraham M |last2=Sheffield |first3=Guy |last3=Van Camp |date=2012-04-19 |title=Nonsyndromic Hearing Loss and Deafness, DFNA3 |id=NBK1536 |url=https://www.ncbi.nlm.nih.gov/books/NBK1536/ }} In {{harvnb|GeneReviews}}
*{{cite book |first1=Richard JH |last1=Smith |first2=Guy |last2=Van Camp |date=2014-01-02 |title=Nonsyndromic Hearing Loss and Deafness, DFNB1 |id=NBK1272 |url=https://www.ncbi.nlm.nih.gov/books/NBK1272/ }} In {{harvnb|GeneReviews}}
{{refend}}
{{refend}}


{{Ion channels|g4}}
{{Ion channels|g4}}


{{gene-13-stub}}
{{gene-13-stub}}


[[Category:Connexins]]
[[Category:Connexins]]

Revision as of 06:11, 18 February 2018

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Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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View/Edit Human

Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) — is a protein that in humans is encoded by the GJB2 gene.

Clinical significance

Defects in this gene lead to the most common form of congenital deafness in developed countries, called DFNB1 (also known as connexin 26 deafness or GJB2-related deafness).[1]

Connexin 26 also plays a role in tumor suppression through mediation of the cell cycle.[2] The abnormal expression of Cx26, correlated with several types of human cancers, may serve as a prognostic factor for cancers such as colorectal cancer,[3] breast cancer,[4] and bladder cancer.[5] Furthermore, Cx26 over-expression is suggested to promote cancer development by facilitating cell migration and invasion[6] and by stimulating the self-perpetuation ability of cancer stem cells.[7]

Function

Gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels. Proteins, called connexins, purified from fractions of enriched gap junctions from different tissues differ. The connexins are designated by their molecular mass. Another system of nomenclature divides gap junction proteins into two categories, alpha and beta, according to sequence similarities at the nucleotide and amino acid levels. For example, CX43 (GJA1) is designated alpha-1 gap junction protein, whereas GJB1 (CX32), and GJB2 (CX26; this protein) are called beta-1 and beta-2 gap junction proteins, respectively. This nomenclature emphasizes that GJB1 and GJB2 are more homologous to each other than either of them is to gap junction protein, alpha GJA1.[8]

See also

References

  1. ↑ Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM (May 1997). "Connexin 26 mutations in hereditary non-syndromic sensorineural deafness". Nature. 387 (6628): 80–3. doi:10.1038/387080a0. PMID 9139825.
  2. ↑ Tanaka,Motoyoshi; Barton, Grossman,H. (2004-02-01). "Connexin 26 induces growth suppression, apoptosis and increased efficacy of doxorubicin in prostate cancer cells". Oncology Reports. 11 (2). ISSN 1021-335X.
  3. ↑ Nomura S, Maeda K, Noda E, Inoue T, Fukunaga S, Nagahara H, Hirakawa K (June 2010). "Clinical significance of the expression of connexin26 in colorectal cancer". Journal of Experimental & Clinical Cancer Research. 29: 79. doi:10.1186/1756-9966-29-79. PMID 20565955.
  4. ↑ Teleki I, Krenacs T, Szasz MA, Kulka J, Wichmann B, Leo C, Papassotiropoulos B, Riemenschnitter C, Moch H, Varga Z (February 2013). "The potential prognostic value of connexin 26 and 46 expression in neoadjuvant-treated breast cancer". BMC Cancer. 13: 50. doi:10.1186/1471-2407-13-50. PMID 23374644.
  5. ↑ Gee J, Tanaka M, Grossman HB (March 2003). "Connexin 26 is abnormally expressed in bladder cancer". The Journal of Urology. 169 (3): 1135–7. doi:10.1097/01.ju.0000041954.91331.df. PMID 12576868.
  6. ↑ Kotini M, Mayor R (May 2015). "Connexins in migration during development and cancer". Developmental Biology. 401 (1): 143–51. doi:10.1016/j.ydbio.2014.12.023. PMID 25553982.
  7. ↑ Thiagarajan PS, Sinyuk M, Turaga SM, Mulkearns-Hubert EE, Hale JS, Rao V, et al. (February 2018). "Cx26 drives self-renewal in triple-negative breast cancer via interaction with NANOG and focal adhesion kinase". Nature Communications. 9 (1): 578. doi:10.1038/s41467-018-02938-1. PMID 29422613.
  8. ↑ "Entrez Gene: GJB2 gap junction protein, beta 2, 26kDa".

Further reading

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