GJB3: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
m (Robot: Automated text replacement (-{{WikiDoc Cardiology Network Infobox}} +, -<references /> +{{reflist|2}}, -{{reflist}} +{{reflist|2}}))
 
m (Bot: HTTP→HTTPS)
 
Line 1: Line 1:
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Gap junction beta-3 protein''' (GJB3), also known as '''connexin 31''' (Cx31) — is a [[protein]] that in humans is encoded by the ''GJB3'' [[gene]].<ref name="pmid9843210">{{cite journal |vauthors=Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W, Hu DX, Zheng D, Shi XL, Wang DA, Xia K, Yu KP, Liao XD, Feng Y, Yang YF, Xiao JY, Xie DH, Huang JZ | title = Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment | journal = Nat Genet | volume = 20 | issue = 4 | pages = 370–3 |date=Dec 1998 | pmid = 9843210 | pmc =  | doi = 10.1038/3845 }}</ref><ref name="pmid9704026">{{cite journal |vauthors=Wenzel K, Manthey D, Willecke K, Grzeschik KH, Traub O | title = Human gap junction protein connexin31: molecular cloning and expression analysis | journal = Biochem Biophys Res Commun | volume = 248 | issue = 3 | pages = 910–5 |date=Sep 1998 | pmid = 9704026 | pmc = | doi = 10.1006/bbrc.1998.9070 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: GJB3 gap junction protein, beta 3, 31kDa| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2707| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Gap junction protein, beta 3, 31kDa
| HGNCid = 4285
| Symbol = GJB3
| AltSymbols =; CX31; DFNA2; EKV; FLJ22486; MGC102938
| OMIM = 603324
| ECnumber = 
| Homologene = 7338
| MGIid = 95721
| GeneAtlas_image1 = PBB_GE_GJB3_215243_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_GJB3_205490_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_GJB3_205491_s_at_tn.png
| Function = {{GNF_GO|id=GO:0015285 |text = gap-junction channel activity}}
| Component = {{GNF_GO|id=GO:0005922 |text = connexon complex}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0001890 |text = placenta development}} {{GNF_GO|id=GO:0007154 |text = cell communication}} {{GNF_GO|id=GO:0007605 |text = sensory perception of sound}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2707
    | Hs_Ensembl = ENSG00000188910
    | Hs_RefseqProtein = NP_001005752
    | Hs_RefseqmRNA = NM_001005752
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 1
    | Hs_GenLoc_start = 35019377
    | Hs_GenLoc_end = 35024557
    | Hs_Uniprot = O75712
    | Mm_EntrezGene = 14620
    | Mm_Ensembl = ENSMUSG00000042367
    | Mm_RefseqmRNA = NM_008126
    | Mm_RefseqProtein = NP_032152
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 4
    | Mm_GenLoc_start = 126827543
    | Mm_GenLoc_end = 126832897
    | Mm_Uniprot = Q6TPJ0
  }}
}}
'''Gap junction protein, beta 3, 31kDa''', also known as '''GJB3''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: GJB3 gap junction protein, beta 3, 31kDa| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2707| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or [[erythrokeratodermia variabilis]], a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein.<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein.<ref name="entrez">{{cite web | title = Entrez Gene: GJB3 gap junction protein, beta 3, 31kDa| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2707| accessdate = }}</ref>
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin|35em}}
{{PBB_Further_reading
*{{cite book|author1=Andrew L Harris |author2=Darren Locke | 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}}
| citations =  
*{{cite journal  |vauthors=Coucke P, Van Camp G, Djoyodiharjo B |title=Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families |journal=N. Engl. J. Med. |volume=331 |issue= 7 |pages= 425–31 |year= 1994 |pmid= 8035838 |doi=10.1056/NEJM199408183310702  |display-authors=etal}}
*{{cite journal  | author=Coucke P, Van Camp G, Djoyodiharjo B, ''et al.'' |title=Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. |journal=N. Engl. J. Med. |volume=331 |issue= 7 |pages= 425-31 |year= 1994 |pmid= 8035838 |doi=  }}
*{{cite journal  |vauthors=Van Camp G, Coucke PJ, Kunst H |title=Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p |journal=Genomics |volume=41 |issue= 1 |pages= 70–4 |year= 1997 |pmid= 9126484 |doi= 10.1006/geno.1997.4624 |display-authors=etal}}
*{{cite journal  | author=Van Camp G, Coucke PJ, Kunst H, ''et al.'' |title=Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p. |journal=Genomics |volume=41 |issue= 1 |pages= 70-4 |year= 1997 |pmid= 9126484 |doi= 10.1006/geno.1997.4624 }}
*{{cite journal  |vauthors=Richard G, Smith LE, Bailey RA |title=Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis |journal=Nat. Genet. |volume=20 |issue= 4 |pages= 366–9 |year= 1998 |pmid= 9843209 |doi= 10.1038/3840 |display-authors=etal}}
*{{cite journal  | author=Wenzel K, Manthey D, Willecke K, ''et al.'' |title=Human gap junction protein connexin31: molecular cloning and expression analysis. |journal=Biochem. Biophys. Res. Commun. |volume=248 |issue= 3 |pages= 910-5 |year= 1998 |pmid= 9704026 |doi= 10.1006/bbrc.1998.9070 }}
*{{cite journal  |vauthors=Liu XZ, Xia XJ, Xu LR |title=Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss |journal=Hum. Mol. Genet. |volume=9 |issue= 1 |pages= 63–7 |year= 2000 |pmid= 10587579 |doi=10.1093/hmg/9.1.63  |display-authors=etal}}
*{{cite journal  | author=Richard G, Smith LE, Bailey RA, ''et al.'' |title=Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. |journal=Nat. Genet. |volume=20 |issue= 4 |pages= 366-9 |year= 1998 |pmid= 9843209 |doi= 10.1038/3840 }}
*{{cite journal  |vauthors=Wilgoss A, Leigh IM, Barnes MR |title=Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis |journal=J. Invest. Dermatol. |volume=113 |issue= 6 |pages= 1119–22 |year= 2000 |pmid= 10594760 |doi= 10.1046/j.1523-1747.1999.00792.x |display-authors=etal}}
*{{cite journal  | author=Xia JH, Liu CY, Tang BS, ''et al.'' |title=Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. |journal=Nat. Genet. |volume=20 |issue= 4 |pages= 370-3 |year= 1998 |pmid= 9843210 |doi= 10.1038/3845 }}
*{{cite journal  |vauthors=Kelsell DP, Wilgoss AL, Richard G |title=Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family |journal=Eur. J. Hum. Genet. |volume=8 |issue= 2 |pages= 141–4 |year= 2000 |pmid= 10757647 |doi= 10.1038/sj.ejhg.5200407 |display-authors=etal}}
*{{cite journal  | author=Liu XZ, Xia XJ, Xu LR, ''et al.'' |title=Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. |journal=Hum. Mol. Genet. |volume=9 |issue= 1 |pages= 63-7 |year= 2000 |pmid= 10587579 |doi= }}
*{{cite journal  |vauthors=López-Bigas N, Rabionet R, Martínez E |title=Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene |journal=Hum. Mutat. |volume=15 |issue= 5 |pages= 481–2 |year= 2000 |pmid= 10790215 |doi= 10.1002/(SICI)1098-1004(200005)15:5<481::AID-HUMU15>3.0.CO;2-7 |display-authors=etal}}
*{{cite journal  | author=Wilgoss A, Leigh IM, Barnes MR, ''et al.'' |title=Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. |journal=J. Invest. Dermatol. |volume=113 |issue= 6 |pages= 1119-22 |year= 2000 |pmid= 10594760 |doi= 10.1046/j.1523-1747.1999.00792.x }}
*{{cite journal  |vauthors=Richard G, Brown N, Smith LE |title=The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3 |journal=Hum. Genet. |volume=106 |issue= 3 |pages= 321–9 |year= 2000 |pmid= 10798362 |doi=10.1007/s004390051045  |display-authors=etal}}
*{{cite journal  | author=Kelsell DP, Wilgoss AL, Richard G, ''et al.'' |title=Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. |journal=Eur. J. Hum. Genet. |volume=8 |issue= 2 |pages= 141-4 |year= 2000 |pmid= 10757647 |doi= 10.1038/sj.ejhg.5200407 }}
*{{cite journal  |vauthors=López-Bigas N, Olivé M, Rabionet R |title=Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment |journal=Hum. Mol. Genet. |volume=10 |issue= 9 |pages= 947–52 |year= 2001 |pmid= 11309368 |doi=10.1093/hmg/10.9.947 |display-authors=etal}}
*{{cite journal  | author=López-Bigas N, Rabionet R, Martínez E, ''et al.'' |title=Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene. |journal=Hum. Mutat. |volume=15 |issue= 5 |pages= 481-2 |year= 2000 |pmid= 10790215 |doi= 10.1002/(SICI)1098-1004(200005)15:5<481::AID-HUMU15>3.0.CO;2-7 }}
*{{cite journal  |vauthors=Gottfried I, Landau M, Glaser F |title=A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein |journal=Hum. Mol. Genet. |volume=11 |issue= 11 |pages= 1311–6 |year= 2002 |pmid= 12019212 |doi=10.1093/hmg/11.11.1311  |display-authors=etal}}
*{{cite journal  | author=Richard G, Brown N, Smith LE, ''et al.'' |title=The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. |journal=Hum. Genet. |volume=106 |issue= 3 |pages= 321-9 |year= 2000 |pmid= 10798362 |doi=  }}
*{{cite journal  |vauthors=Nielsen PA, Beahm DL, Giepmans BN |title=Molecular cloning, functional expression, and tissue distribution of a novel human gap junction-forming protein, connexin-31.9. Interaction with zona occludens protein-1 |journal=J. Biol. Chem. |volume=277 |issue= 41 |pages= 38272–83 |year= 2002 |pmid= 12154091 |doi= 10.1074/jbc.M205348200 |display-authors=etal}}
*{{cite journal  | author=López-Bigas N, Olivé M, Rabionet R, ''et al.'' |title=Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. |journal=Hum. Mol. Genet. |volume=10 |issue= 9 |pages= 947-52 |year= 2001 |pmid= 11309368 |doi= }}
*{{cite journal  |vauthors=Di WL, Monypenny J, Common JE |title=Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations |journal=Hum. Mol. Genet. |volume=11 |issue= 17 |pages= 2005–14 |year= 2003 |pmid= 12165562 |doi=10.1093/hmg/11.17.2005  |display-authors=etal}}
*{{cite journal  | author=Gottfried I, Landau M, Glaser F, ''et al.'' |title=A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. |journal=Hum. Mol. Genet. |volume=11 |issue= 11 |pages= 1311-6 |year= 2002 |pmid= 12019212 |doi= }}
*{{cite journal  |vauthors=Diestel S, Richard G, Döring B, Traub O |title=Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells |journal=Biochem. Biophys. Res. Commun. |volume=296 |issue= 3 |pages= 721–8 |year= 2002 |pmid= 12176042 |doi=10.1016/S0006-291X(02)00929-4  }}
*{{cite journal  | author=Nielsen PA, Beahm DL, Giepmans BN, ''et al.'' |title=Molecular cloning, functional expression, and tissue distribution of a novel human gap junction-forming protein, connexin-31.9. Interaction with zona occludens protein-1. |journal=J. Biol. Chem. |volume=277 |issue= 41 |pages= 38272-83 |year= 2002 |pmid= 12154091 |doi= 10.1074/jbc.M205348200 }}
*{{cite journal  |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Di WL, Monypenny J, Common JE, ''et al.'' |title=Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations. |journal=Hum. Mol. Genet. |volume=11 |issue= 17 |pages= 2005-14 |year= 2003 |pmid= 12165562 |doi= }}
*{{cite journal  |vauthors=Mhatre AN, Weld E, Lalwani AK |title=Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment |journal=Clin. Genet. |volume=63 |issue= 2 |pages= 154–9 |year= 2003 |pmid= 12630965 |doi=10.1034/j.1399-0004.2003.00031.x  }}
*{{cite journal  | author=Diestel S, Richard G, Döring B, Traub O |title=Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells. |journal=Biochem. Biophys. Res. Commun. |volume=296 |issue= 3 |pages= 721-8 |year= 2002 |pmid= 12176042 |doi=  }}
*{{cite journal  |vauthors=Rouan F, Lo CW, Fertala A |title=Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro |journal=Exp. Dermatol. |volume=12 |issue= 2 |pages= 191–7 |year= 2004 |pmid= 12702148 |doi=10.1034/j.1600-0625.2003.120210.x |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  |vauthors=Plantard L, Huber M, Macari F |title=Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis |journal=Hum. Mol. Genet. |volume=12 |issue= 24 |pages= 3287–94 |year= 2004 |pmid= 14583444 |doi= 10.1093/hmg/ddg364 |display-authors=etal}}
*{{cite journal  | author=Mhatre AN, Weld E, Lalwani AK |title=Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment. |journal=Clin. Genet. |volume=63 |issue= 2 |pages= 154-9 |year= 2003 |pmid= 12630965 |doi=  }}
*{{cite journal  |vauthors=Gerhard DS, Wagner L, Feingold EA |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
*{{cite journal  | author=Rouan F, Lo CW, Fertala A, ''et al.'' |title=Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro. |journal=Exp. Dermatol. |volume=12 |issue= 2 |pages= 191-7 |year= 2004 |pmid= 12702148 |doi= }}
*{{cite journal  | author=Plantard L, Huber M, Macari F, ''et al.'' |title=Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis. |journal=Hum. Mol. Genet. |volume=12 |issue= 24 |pages= 3287-94 |year= 2004 |pmid= 14583444 |doi= 10.1093/hmg/ddg364 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
==External links==
{{WikiDoc Sources}}
* [https://www.ncbi.nlm.nih.gov/books/NBK1434/  GeneReviews/NCBI/NIH/UW entry on Deafness and Hereditary Hearing Loss Overview]
 
{{Ion channels|g4}}
 
[[Category:Connexins]]
 
 
{{gene-1-stub}}

Latest revision as of 08:46, 31 August 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Gap junction beta-3 protein (GJB3), also known as connexin 31 (Cx31) — is a protein that in humans is encoded by the GJB3 gene.[1][2][3]

Function

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein.[3]

References

  1. ↑ Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W, Hu DX, Zheng D, Shi XL, Wang DA, Xia K, Yu KP, Liao XD, Feng Y, Yang YF, Xiao JY, Xie DH, Huang JZ (Dec 1998). "Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment". Nat Genet. 20 (4): 370–3. doi:10.1038/3845. PMID 9843210.
  2. ↑ Wenzel K, Manthey D, Willecke K, Grzeschik KH, Traub O (Sep 1998). "Human gap junction protein connexin31: molecular cloning and expression analysis". Biochem Biophys Res Commun. 248 (3): 910–5. doi:10.1006/bbrc.1998.9070. PMID 9704026.
  3. ↑ 3.0 3.1 "Entrez Gene: GJB3 gap junction protein, beta 3, 31kDa".

Further reading

External links


Retrieved from "https://www.wikidoc.org/index.php?title=GJB3&oldid=1410938"