GJB4: 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-4 protein''' (GJB4), also known as '''connexin 30.3''' (Cx30.3) — is a [[protein]] that in humans is encoded by the ''GJB4'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: GJB4 gap junction protein, beta 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=127534| 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. -->
==References==
{{GNF_Protein_box
{{reflist}}
| image = 
| image_source = 
| PDB =
| Name = Gap junction protein, beta 4
| HGNCid = 4286
| Symbol = GJB4
| AltSymbols =; EKV; CX30.3; MGC21116
| OMIM = 605425
| ECnumber = 
| Homologene = 7339
| MGIid = 95722
| GeneAtlas_image1 = PBB_GE_GJB4_216579_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:0007154 |text = cell communication}} {{GNF_GO|id=GO:0007605 |text = sensory perception of sound}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 127534
    | Hs_Ensembl = ENSG00000189433
    | Hs_RefseqProtein = NP_694944
    | Hs_RefseqmRNA = NM_153212
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 1
    | Hs_GenLoc_start = 34997929
    | Hs_GenLoc_end = 35001912
    | Hs_Uniprot = Q9NTQ9
    | Mm_EntrezGene = 14621
    | Mm_Ensembl = ENSMUSG00000046623
    | Mm_RefseqmRNA = XM_001005325
    | Mm_RefseqProtein = XP_001005325
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 4
    | Mm_GenLoc_start = 126853390
    | Mm_GenLoc_end = 126856385
    | Mm_Uniprot = Q8C677
  }}
}}
'''Gap junction protein, beta 4''', also known as '''GJB4''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: GJB4 gap junction protein, beta 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=127534| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text =
}}
==References==
{{reflist|2}}
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{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=Gregory SG, Barlow KF, McLay KE |title=The DNA sequence and biological annotation of human chromosome 1. |journal=Nature |volume=441 |issue= 7091 |pages= 315–21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 |display-authors=etal}}
*{{cite journal  | author=Gregory SG, Barlow KF, McLay KE, ''et al.'' |title=The DNA sequence and biological annotation of human chromosome 1. |journal=Nature |volume=441 |issue= 7091 |pages= 315-21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 }}
*{{cite journal  |vauthors=Common JE, O'Toole EA, Leigh IM |title=Clinical and genetic heterogeneity of erythrokeratoderma variabilis. |journal=J. Invest. Dermatol. |volume=125 |issue= 5 |pages= 920–7 |year= 2006 |pmid= 16297190 |doi= 10.1111/j.0022-202X.2005.23919.x |display-authors=etal}}
*{{cite journal  | author=Common JE, O'Toole EA, Leigh IM, ''et al.'' |title=Clinical and genetic heterogeneity of erythrokeratoderma variabilis. |journal=J. Invest. Dermatol. |volume=125 |issue= 5 |pages= 920-7 |year= 2006 |pmid= 16297190 |doi= 10.1111/j.0022-202X.2005.23919.x }}
*{{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=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 }}
*{{cite journal  |vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{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=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  |vauthors=Richard G, Brown N, Rouan F |title=Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. |journal=J. Invest. Dermatol. |volume=120 |issue= 4 |pages= 601–9 |year= 2003 |pmid= 12648223 |doi= 10.1046/j.1523-1747.2003.12080.x |display-authors=etal}}
*{{cite journal  | author=Richard G, Brown N, Rouan F, ''et al.'' |title=Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. |journal=J. Invest. Dermatol. |volume=120 |issue= 4 |pages= 601-9 |year= 2003 |pmid= 12648223 |doi= 10.1046/j.1523-1747.2003.12080.x }}
*{{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=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=López-Bigas N, Melchionda S, Gasparini P |title=A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families. |journal=Hum. Mutat. |volume=19 |issue= 4 |pages= 458 |year= 2002 |pmid= 11933201 |doi= 10.1002/humu.9023 |display-authors=etal}}
*{{cite journal  | author=López-Bigas N, Melchionda S, Gasparini P, ''et al.'' |title=A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families. |journal=Hum. Mutat. |volume=19 |issue= 4 |pages= 458 |year= 2002 |pmid= 11933201 |doi= 10.1002/humu.9023 }}
*{{cite journal  |vauthors=Manthey D, Banach K, Desplantez T |title=Intracellular domains of mouse connexin26 and -30 affect diffusional and electrical properties of gap junction channels. |journal=J. Membr. Biol. |volume=181 |issue= 2 |pages= 137–48 |year= 2001 |pmid= 11420600 |doi=  10.1007/s00232-001-0017-1|display-authors=etal}}
*{{cite journal  | author=Manthey D, Banach K, Desplantez T, ''et al.'' |title=Intracellular domains of mouse connexin26 and -30 affect diffusional and electrical properties of gap junction channels. |journal=J. Membr. Biol. |volume=181 |issue= 2 |pages= 137-48 |year= 2001 |pmid= 11420600 |doi=  }}
*{{cite journal  |vauthors=Macari F, Landau M, Cousin P |title=Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. |journal=Am. J. Hum. Genet. |volume=67 |issue= 5 |pages= 1296–301 |year= 2000 |pmid= 11017804 |doi=10.1016/S0002-9297(07)62957-7  | pmc=1288569 |display-authors=etal}}
*{{cite journal  | author=Macari F, Landau M, Cousin P, ''et al.'' |title=Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. |journal=Am. J. Hum. Genet. |volume=67 |issue= 5 |pages= 1296-301 |year= 2000 |pmid= 11017804 |doi=  }}
*{{cite journal  |vauthors=Hennemann H, Dahl E, White JB |title=Two gap junction genes, connexin 31.1 and 30.3, are closely linked on mouse chromosome 4 and preferentially expressed in skin. |journal=J. Biol. Chem. |volume=267 |issue= 24 |pages= 17225–33 |year= 1992 |pmid= 1512260 |doi=  |display-authors=etal}}
*{{cite journal  | author=Hennemann H, Dahl E, White JB, ''et al.'' |title=Two gap junction genes, connexin 31.1 and 30.3, are closely linked on mouse chromosome 4 and preferentially expressed in skin. |journal=J. Biol. Chem. |volume=267 |issue= 24 |pages= 17225-33 |year= 1992 |pmid= 1512260 |doi=  }}
*{{cite journal  |vauthors=Hacham-Zadeh S, Even-Paz Z |title=Erythrokeratodermia variabilis in a Jewish Kurdish family. |journal=Clin. Genet. |volume=13 |issue= 5 |pages= 404–8 |year= 1978 |pmid= 148984 |doi=10.1111/j.1399-0004.1978.tb04138.x }}
*{{cite journal  | author=Hacham-Zadeh S, Even-Paz Z |title=Erythrokeratodermia variabilis in a Jewish Kurdish family. |journal=Clin. Genet. |volume=13 |issue= 5 |pages= 404-8 |year= 1978 |pmid= 148984 |doi=  }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
{{Ion channels|g4}}
{{WikiDoc Sources}}
 
 
{{gene-1-stub}}
 
[[Category:Connexins]]

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-4 protein (GJB4), also known as connexin 30.3 (Cx30.3) — is a protein that in humans is encoded by the GJB4 gene.[1]

References

  1. ↑ "Entrez Gene: GJB4 gap junction protein, beta 4".

Further reading


Retrieved from "https://www.wikidoc.org/index.php?title=GJB4&oldid=1411187"