CXB6_HUMAN
ID CXB6_HUMAN Reviewed; 261 AA.
AC O95452; B3KQN2; Q5Q1H9; Q5Q1I0; Q5Q1I1; Q5T5U0; Q8IUP0;
DT 15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT 19-SEP-2003, sequence version 2.
DT 03-AUG-2022, entry version 180.
DE RecName: Full=Gap junction beta-6 protein;
DE AltName: Full=Connexin-30;
DE Short=Cx30;
GN Name=GJB6;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT DFNA3B MET-5.
RX PubMed=10471490; DOI=10.1038/12612;
RA Grifa A., Wagner C.A., D'Ambrosio L., Melchionda S., Bernardi F.,
RA Lopez-Bigas N., Rabionet R., Arbones M., Monica M.D., Estivill X.,
RA Zelante L., Lang F., Gasparini P.;
RT "Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3
RT locus.";
RL Nat. Genet. 23:16-18(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS GLY-139 AND THR-199.
RX PubMed=10610709; DOI=10.1006/geno.1999.6002;
RA Kelley P.M., Abe S., Askew J.W., Smith S.D., Usami S., Kimberling W.J.;
RT "Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss:
RT molecular cloning, tissue-specific expression, and assignment to chromosome
RT 13q12.";
RL Genomics 62:172-176(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Corpus callosum;
RA Enriquez A.D., Scherer S.S.;
RT "Human connexin30, updated ORF.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain cortex;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Thyroid;
RX PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA Isogai T.;
RT "Signal sequence and keyword trap in silico for selection of full-length
RT human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA
RT libraries.";
RL DNA Res. 12:117-126(2005).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [9]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-40, AND GENE STRUCTURE.
RC TISSUE=Hair follicle;
RX PubMed=15792634; DOI=10.1016/j.gene.2004.12.048;
RA Essenfelder G.M., Larderet G., Waksman G., Lamartine J.;
RT "Gene structure and promoter analysis of the human GJB6 gene encoding
RT connexin 30.";
RL Gene 350:33-40(2005).
RN [10]
RP INVOLVEMENT IN DFNB1B.
RX PubMed=11807148; DOI=10.1056/nejmoa012052;
RA del Castillo I., Villamar M., Moreno-Pelayo M.A., del Castillo F.J.,
RA Alvarez A., Telleria D., Menendez I., Moreno F.;
RT "A deletion involving the connexin 30 gene in nonsyndromic hearing
RT impairment.";
RL N. Engl. J. Med. 346:243-249(2002).
RN [11]
RP INVOLVEMENT IN DFNB1B.
RX PubMed=15994881; DOI=10.1136/jmg.2004.028324;
RA del Castillo F.J., Rodriguez-Ballesteros M., Alvarez A., Hutchin T.,
RA Leonardi E., de Oliveira C.A., Azaiez H., Brownstein Z., Avenarius M.R.,
RA Marlin S., Pandya A., Shahin H., Siemering K.R., Weil D., Wuyts W.,
RA Aguirre L.A., Martin Y., Moreno-Pelayo M.A., Villamar M., Avraham K.B.,
RA Dahl H.H., Kanaan M., Nance W.E., Petit C., Smith R.J., Van Camp G.,
RA Sartorato E.L., Murgia A., Moreno F., del Castillo I.;
RT "A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found
RT in trans with mutations in the GJB2 gene (connexin-26) in subjects with
RT DFNB1 non-syndromic hearing impairment.";
RL J. Med. Genet. 42:588-594(2005).
RN [12]
RP VARIANTS ECTD2 ARG-11 AND VAL-88.
RX PubMed=11017065; DOI=10.1038/79851;
RA Lamartine J., Munhoz Essenfelder G., Kibar Z., Lanneluc I., Callouet E.,
RA Laoudj D., Lemaitre G., Hand C., Hayflick S.J., Zonana J., Antonarakis S.,
RA Radhakrishna U., Kelsell D.P., Christianson A.L., Pitaval A.,
RA Der Kaloustian V., Fraser C., Blanchet-Bardon C., Rouleau G.A., Waksman G.;
RT "Mutations in GJB6 cause hidrotic ectodermal dysplasia.";
RL Nat. Genet. 26:142-144(2000).
RN [13]
RP VARIANT ECTD2 GLU-37.
RX PubMed=11874494; DOI=10.1046/j.0022-202x.2001.01689.x;
RA Smith F.J., Morley S.M., McLean W.H.I.;
RT "A novel connexin 30 mutation in Clouston syndrome.";
RL J. Invest. Dermatol. 118:530-532(2002).
RN [14]
RP VARIANT ARG-59.
RX PubMed=19416251; DOI=10.1111/j.1365-2133.2009.09137.x;
RA Nemoto-Hasebe I., Akiyama M., Kudo S., Ishiko A., Tanaka A., Arita K.,
RA Shimizu H.;
RT "Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies
RT palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing
RT loss.";
RL Br. J. Dermatol. 161:452-455(2009).
CC -!- FUNCTION: One gap junction consists of a cluster of closely packed
CC pairs of transmembrane channels, the connexons, through which materials
CC of low MW diffuse from one cell to a neighboring cell.
CC -!- SUBUNIT: A connexon is composed of a hexamer of connexins. Interacts
CC with CNST (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC O95452; Q15125: EBP; NbExp=3; IntAct=EBI-13345609, EBI-3915253;
CC O95452; Q9BZJ8: GPR61; NbExp=3; IntAct=EBI-13345609, EBI-12808020;
CC O95452; P26715: KLRC1; NbExp=3; IntAct=EBI-13345609, EBI-9018187;
CC O95452; Q8TAF8: LHFPL5; NbExp=3; IntAct=EBI-13345609, EBI-2820517;
CC O95452; Q5J8X5: MS4A13; NbExp=3; IntAct=EBI-13345609, EBI-12070086;
CC O95452; Q96IW7: SEC22A; NbExp=3; IntAct=EBI-13345609, EBI-8652744;
CC O95452; O75396: SEC22B; NbExp=3; IntAct=EBI-13345609, EBI-1058865;
CC O95452; Q3KNW5: SLC10A6; NbExp=3; IntAct=EBI-13345609, EBI-18159983;
CC O95452; A2RU14: TMEM218; NbExp=3; IntAct=EBI-13345609, EBI-10173151;
CC O95452; Q9H2L4: TMEM60; NbExp=3; IntAct=EBI-13345609, EBI-2852148;
CC -!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell
CC junction, gap junction.
CC -!- DISEASE: Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500]: A
CC form of ectodermal dysplasia, a heterogeneous group of disorders due to
CC abnormal development of two or more ectodermal structures such as hair,
CC teeth, nails and sweat glands, with or without any additional clinical
CC sign. Each combination of clinical features represents a different type
CC of ectodermal dysplasia. ECTD2 is an autosomal dominant condition
CC characterized by atrichosis, nail hypoplasia and deformities,
CC hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous
CC gland function. Palmoplantar hyperkeratosis is a frequent feature.
CC Hearing impairment has been detected in few cases.
CC {ECO:0000269|PubMed:11017065, ECO:0000269|PubMed:11874494}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Deafness, autosomal recessive, 1B (DFNB1B) [MIM:612645]: A
CC form of non-syndromic sensorineural hearing loss. Sensorineural
CC deafness results from damage to the neural receptors of the inner ear,
CC the nerve pathways to the brain, or the area of the brain that receives
CC sound information. {ECO:0000269|PubMed:11807148,
CC ECO:0000269|PubMed:15994881}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Deafness, autosomal dominant, 3B (DFNA3B) [MIM:612643]: A form
CC of non-syndromic sensorineural hearing loss characterized by a variable
CC phenotype, ranging from bilateral middle to high frequency hearing loss
CC to profound sensorineural deafness. Sensorineural deafness results from
CC damage to the neural receptors of the inner ear, the nerve pathways to
CC the brain, or the area of the brain that receives sound information.
CC {ECO:0000269|PubMed:10471490}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the connexin family. Beta-type (group I)
CC subfamily. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Connexin-deafness homepage;
CC URL="http://perelman.crg.es/deafness/";
CC -!- WEB RESOURCE: Name=Hereditary hearing loss homepage; Note=Gene page;
CC URL="https://hereditaryhearingloss.org/dominant-genes";
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DR EMBL; AJ005585; CAA06611.1; -; Genomic_DNA.
DR EMBL; AY297110; AAP51162.1; -; mRNA.
DR EMBL; AK289592; BAF82281.1; -; mRNA.
DR EMBL; AK075247; BAG52094.1; -; mRNA.
DR EMBL; AL355984; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471075; EAX08254.1; -; Genomic_DNA.
DR EMBL; BC038934; AAH38934.1; -; mRNA.
DR EMBL; AY789474; AAV67951.1; -; mRNA.
DR EMBL; AY789475; AAV67952.1; -; mRNA.
DR EMBL; AY789476; AAV67953.1; -; mRNA.
DR CCDS; CCDS9291.1; -.
DR RefSeq; NP_001103689.1; NM_001110219.2.
DR RefSeq; NP_001103690.1; NM_001110220.2.
DR RefSeq; NP_001103691.1; NM_001110221.2.
DR RefSeq; NP_006774.2; NM_006783.4.
DR RefSeq; XP_016875846.1; XM_017020357.1.
DR RefSeq; XP_016875847.1; XM_017020358.1.
DR RefSeq; XP_016875848.1; XM_017020359.1.
DR RefSeq; XP_016875849.1; XM_017020360.1.
DR AlphaFoldDB; O95452; -.
DR SMR; O95452; -.
DR BioGRID; 116018; 15.
DR CORUM; O95452; -.
DR IntAct; O95452; 12.
DR MINT; O95452; -.
DR STRING; 9606.ENSP00000348521; -.
DR PhosphoSitePlus; O95452; -.
DR BioMuta; GJB6; -.
DR MassIVE; O95452; -.
DR PaxDb; O95452; -.
DR PeptideAtlas; O95452; -.
DR PRIDE; O95452; -.
DR ProteomicsDB; 50885; -.
DR Antibodypedia; 6442; 249 antibodies from 29 providers.
DR DNASU; 10804; -.
DR Ensembl; ENST00000241124.11; ENSP00000241124.6; ENSG00000121742.19.
DR Ensembl; ENST00000400065.7; ENSP00000382938.3; ENSG00000121742.19.
DR Ensembl; ENST00000400066.8; ENSP00000382939.3; ENSG00000121742.19.
DR Ensembl; ENST00000636852.1; ENSP00000489698.1; ENSG00000121742.19.
DR Ensembl; ENST00000643121.1; ENSP00000494468.1; ENSG00000121742.19.
DR Ensembl; ENST00000643211.1; ENSP00000495841.1; ENSG00000121742.19.
DR Ensembl; ENST00000644283.1; ENSP00000495320.1; ENSG00000121742.19.
DR Ensembl; ENST00000644667.1; ENSP00000493621.1; ENSG00000121742.19.
DR Ensembl; ENST00000647029.1; ENSP00000493834.1; ENSG00000121742.19.
DR Ensembl; ENST00000647243.1; ENSP00000494733.1; ENSG00000121742.19.
DR GeneID; 10804; -.
DR KEGG; hsa:10804; -.
DR MANE-Select; ENST00000647029.1; ENSP00000493834.1; NM_001110219.3; NP_001103689.1.
DR UCSC; uc001umz.5; human.
DR CTD; 10804; -.
DR DisGeNET; 10804; -.
DR GeneCards; GJB6; -.
DR GeneReviews; GJB6; -.
DR HGNC; HGNC:4288; GJB6.
DR HPA; ENSG00000121742; Tissue enhanced (bone marrow, esophagus, vagina).
DR MalaCards; GJB6; -.
DR MIM; 129500; phenotype.
DR MIM; 604418; gene.
DR MIM; 612643; phenotype.
DR MIM; 612645; phenotype.
DR neXtProt; NX_O95452; -.
DR OpenTargets; ENSG00000121742; -.
DR Orphanet; 90635; Autosomal dominant non-syndromic sensorineural deafness type DFNA.
DR Orphanet; 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB.
DR Orphanet; 189; Hidrotic ectodermal dysplasia.
DR Orphanet; 477; KID syndrome.
DR PharmGKB; PA28699; -.
DR VEuPathDB; HostDB:ENSG00000121742; -.
DR eggNOG; ENOG502QWM8; Eukaryota.
DR GeneTree; ENSGT01030000234513; -.
DR HOGENOM; CLU_037388_4_1_1; -.
DR InParanoid; O95452; -.
DR OMA; PNHAIKE; -.
DR OrthoDB; 1043502at2759; -.
DR PhylomeDB; O95452; -.
DR TreeFam; TF329606; -.
DR PathwayCommons; O95452; -.
DR Reactome; R-HSA-190861; Gap junction assembly.
DR SignaLink; O95452; -.
DR BioGRID-ORCS; 10804; 13 hits in 1071 CRISPR screens.
DR ChiTaRS; GJB6; human.
DR GeneWiki; GJB6; -.
DR GenomeRNAi; 10804; -.
DR Pharos; O95452; Tbio.
DR PRO; PR:O95452; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; O95452; protein.
DR Bgee; ENSG00000121742; Expressed in upper arm skin and 130 other tissues.
DR ExpressionAtlas; O95452; baseline and differential.
DR Genevisible; O95452; HS.
DR GO; GO:0005884; C:actin filament; IMP:ARUK-UCL.
DR GO; GO:0016324; C:apical plasma membrane; IEA:Ensembl.
DR GO; GO:0030054; C:cell junction; IDA:HPA.
DR GO; GO:0005922; C:connexin complex; IEA:InterPro.
DR GO; GO:0005829; C:cytosol; IEA:Ensembl.
DR GO; GO:0005921; C:gap junction; IMP:ARUK-UCL.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0051015; F:actin filament binding; IDA:ARUK-UCL.
DR GO; GO:0048487; F:beta-tubulin binding; IDA:ARUK-UCL.
DR GO; GO:0005243; F:gap junction channel activity; IDA:ARUK-UCL.
DR GO; GO:1903763; F:gap junction channel activity involved in cell communication by electrical coupling; IDA:ARUK-UCL.
DR GO; GO:0008017; F:microtubule binding; IDA:ARUK-UCL.
DR GO; GO:0007568; P:aging; IEA:Ensembl.
DR GO; GO:0006915; P:apoptotic process; IEA:Ensembl.
DR GO; GO:0007267; P:cell-cell signaling; IBA:GO_Central.
DR GO; GO:0071333; P:cellular response to glucose stimulus; IEA:Ensembl.
DR GO; GO:0042471; P:ear morphogenesis; IEA:Ensembl.
DR GO; GO:0016264; P:gap junction assembly; IMP:ARUK-UCL.
DR GO; GO:1990349; P:gap junction-mediated intercellular transport; IDA:ARUK-UCL.
DR GO; GO:0048839; P:inner ear development; IEA:Ensembl.
DR GO; GO:0035633; P:maintenance of blood-brain barrier; NAS:ARUK-UCL.
DR GO; GO:0008285; P:negative regulation of cell population proliferation; IEA:Ensembl.
DR GO; GO:0051602; P:response to electrical stimulus; IEA:Ensembl.
DR GO; GO:0032496; P:response to lipopolysaccharide; IEA:Ensembl.
DR GO; GO:0007605; P:sensory perception of sound; TAS:ProtInc.
DR GO; GO:0003163; P:sinoatrial node development; NAS:BHF-UCL.
DR GO; GO:0055085; P:transmembrane transport; IDA:ARUK-UCL.
DR Gene3D; 1.20.1440.80; -; 1.
DR InterPro; IPR000500; Connexin.
DR InterPro; IPR019570; Connexin_CCC.
DR InterPro; IPR017990; Connexin_CS.
DR InterPro; IPR013092; Connexin_N.
DR InterPro; IPR038359; Connexin_N_sf.
DR PANTHER; PTHR11984; PTHR11984; 1.
DR Pfam; PF00029; Connexin; 1.
DR PRINTS; PR00206; CONNEXIN.
DR SMART; SM00037; CNX; 1.
DR SMART; SM01089; Connexin_CCC; 1.
DR PROSITE; PS00407; CONNEXINS_1; 1.
DR PROSITE; PS00408; CONNEXINS_2; 1.
PE 1: Evidence at protein level;
KW Cell junction; Cell membrane; Deafness; Disease variant;
KW Ectodermal dysplasia; Gap junction; Hearing; Membrane;
KW Non-syndromic deafness; Palmoplantar keratoderma; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..261
FT /note="Gap junction beta-6 protein"
FT /id="PRO_0000057871"
FT TOPO_DOM 1..22
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 23..45
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 46..75
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 76..98
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 99..131
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 132..154
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 155..192
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 193..215
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 216..261
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT VARIANT 5
FT /note="T -> M (in DFNA3B; dbSNP:rs104894414)"
FT /evidence="ECO:0000269|PubMed:10471490"
FT /id="VAR_008711"
FT VARIANT 11
FT /note="G -> R (in ECTD2; dbSNP:rs104894415)"
FT /evidence="ECO:0000269|PubMed:11017065"
FT /id="VAR_015696"
FT VARIANT 37
FT /note="V -> E (in ECTD2; dbSNP:rs104894416)"
FT /evidence="ECO:0000269|PubMed:11874494"
FT /id="VAR_016838"
FT VARIANT 59
FT /note="G -> R (found in one patient with a syndrome
FT resembling Vohwinkel and Bart-Pumphrey syndromes)"
FT /evidence="ECO:0000269|PubMed:19416251"
FT /id="VAR_057960"
FT VARIANT 88
FT /note="A -> V (in ECTD2; dbSNP:rs28937872)"
FT /evidence="ECO:0000269|PubMed:11017065"
FT /id="VAR_015697"
FT VARIANT 139
FT /note="S -> G"
FT /evidence="ECO:0000269|PubMed:10610709"
FT /id="VAR_022424"
FT VARIANT 159
FT /note="N -> S (in dbSNP:rs35277762)"
FT /id="VAR_048825"
FT VARIANT 199
FT /note="S -> T (in dbSNP:rs111033338)"
FT /evidence="ECO:0000269|PubMed:10610709"
FT /id="VAR_022425"
FT CONFLICT 11
FT /note="G -> E (in Ref. 9; AAV67951)"
FT /evidence="ECO:0000305"
FT CONFLICT 124
FT /note="Q -> H (in Ref. 1; CAA06611)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 261 AA; 30387 MW; 394A2D97E08EEB43 CRC64;
MDWGTLHTFI GGVNKHSTSI GKVWITVIFI FRVMILVVAA QEVWGDEQED FVCNTLQPGC
KNVCYDHFFP VSHIRLWALQ LIFVSTPALL VAMHVAYYRH ETTRKFRRGE KRNDFKDIED
IKKQKVRIEG SLWWTYTSSI FFRIIFEAAF MYVFYFLYNG YHLPWVLKCG IDPCPNLVDC
FISRPTEKTV FTIFMISASV ICMLLNVAEL CYLLLKVCFR RSKRAQTQKN HPNHALKESK
QNEMNELISD SGQNAITGFP S
