UniProtKB - O95452 (CXB6_HUMAN)
Protein
Gap junction beta-6 protein
Gene
GJB6
Organism
Homo sapiens (Human)
Status
Functioni
One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
GO - Molecular functioni
- actin filament binding Source: ARUK-UCL
- beta-tubulin binding Source: ARUK-UCL
- gap junction channel activity Source: ARUK-UCL
- gap junction channel activity involved in cell communication by electrical coupling Source: ARUK-UCL
- microtubule binding Source: ARUK-UCL
GO - Biological processi
- aging Source: Ensembl
- apoptotic process Source: Ensembl
- cell-cell signaling Source: GO_Central
- cellular response to glucose stimulus Source: Ensembl
- ear morphogenesis Source: Ensembl
- gap junction assembly Source: ARUK-UCL
- gap junction-mediated intercellular transport Source: ARUK-UCL
- inner ear development Source: Ensembl
- maintenance of blood-brain barrier Source: ARUK-UCL
- negative regulation of cell population proliferation Source: Ensembl
- response to electrical stimulus Source: Ensembl
- response to lipopolysaccharide Source: Ensembl
- sensory perception of sound Source: ProtInc
- transmembrane transport Source: ARUK-UCL
Keywordsi
Biological process | Hearing |
Enzyme and pathway databases
PathwayCommonsi | O95452 |
Reactomei | R-HSA-190861, Gap junction assembly |
Names & Taxonomyi
Protein namesi | Recommended name: Gap junction beta-6 proteinAlternative name(s): Connexin-30 Short name: Cx30 |
Gene namesi | Name:GJB6 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4288, GJB6 |
MIMi | 604418, gene |
neXtProti | NX_O95452 |
VEuPathDBi | HostDB:ENSG00000121742.15 |
Subcellular locationi
Plasma membrane
Other locations
Cytoskeleton
- actin filament Source: ARUK-UCL
Cytosol
- cytosol Source: Ensembl
Plasma Membrane
- apical plasma membrane Source: Ensembl
- connexin complex Source: GO_Central
Other locations
- cell junction Source: HPA
- gap junction Source: ARUK-UCL
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 22 | CytoplasmicSequence analysisAdd BLAST | 22 | |
Transmembranei | 23 – 45 | HelicalSequence analysisAdd BLAST | 23 | |
Topological domaini | 46 – 75 | ExtracellularSequence analysisAdd BLAST | 30 | |
Transmembranei | 76 – 98 | HelicalSequence analysisAdd BLAST | 23 | |
Topological domaini | 99 – 131 | CytoplasmicSequence analysisAdd BLAST | 33 | |
Transmembranei | 132 – 154 | HelicalSequence analysisAdd BLAST | 23 | |
Topological domaini | 155 – 192 | ExtracellularSequence analysisAdd BLAST | 38 | |
Transmembranei | 193 – 215 | HelicalSequence analysisAdd BLAST | 23 | |
Topological domaini | 216 – 261 | CytoplasmicSequence analysisAdd BLAST | 46 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Gap junction, MembranePathology & Biotechi
Involvement in diseasei
Ectodermal dysplasia 2, Clouston type (ECTD2)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent feature. Hearing impairment has been detected in few cases.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015696 | 11 | G → R in ECTD2. 1 PublicationCorresponds to variant dbSNP:rs104894415EnsemblClinVar. | 1 | |
Natural variantiVAR_016838 | 37 | V → E in ECTD2. 1 PublicationCorresponds to variant dbSNP:rs104894416EnsemblClinVar. | 1 | |
Natural variantiVAR_015697 | 88 | A → V in ECTD2. 1 PublicationCorresponds to variant dbSNP:rs28937872EnsemblClinVar. | 1 |
Deafness, autosomal recessive, 1B (DFNB1B)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Related information in OMIMDeafness, autosomal dominant, 3B (DFNA3B)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss characterized by a variable phenotype, ranging from bilateral middle to high frequency hearing loss to profound sensorineural deafness. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_008711 | 5 | T → M in DFNA3B. 1 PublicationCorresponds to variant dbSNP:rs104894414EnsemblClinVar. | 1 |
Keywords - Diseasei
Deafness, Disease variant, Ectodermal dysplasia, Non-syndromic deafness, Palmoplantar keratodermaOrganism-specific databases
DisGeNETi | 10804 |
GeneReviewsi | GJB6 |
MalaCardsi | GJB6 |
MIMi | 129500, phenotype 612643, phenotype 612645, phenotype |
OpenTargetsi | ENSG00000121742 |
Orphaneti | 90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB 189, Hidrotic ectodermal dysplasia 477, KID syndrome |
PharmGKBi | PA28699 |
Miscellaneous databases
Pharosi | O95452, Tbio |
Genetic variation databases
BioMutai | GJB6 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000057871 | 1 – 261 | Gap junction beta-6 proteinAdd BLAST | 261 |
Proteomic databases
MassIVEi | O95452 |
PaxDbi | O95452 |
PeptideAtlasi | O95452 |
PRIDEi | O95452 |
ProteomicsDBi | 50885 |
PTM databases
PhosphoSitePlusi | O95452 |
Expressioni
Gene expression databases
Bgeei | ENSG00000121742, Expressed in mouth mucosa and 145 other tissues |
ExpressionAtlasi | O95452, baseline and differential |
Genevisiblei | O95452, HS |
Organism-specific databases
HPAi | ENSG00000121742, Tissue enhanced (bone marrow, esophagus, tongue) |
Interactioni
Subunit structurei
A connexon is composed of a hexamer of connexins.
Interacts with CNST (By similarity).
By similarityBinary interactionsi
Hide detailsO95452
GO - Molecular functioni
- actin filament binding Source: ARUK-UCL
- beta-tubulin binding Source: ARUK-UCL
- microtubule binding Source: ARUK-UCL
Protein-protein interaction databases
BioGRIDi | 116018, 11 interactors |
CORUMi | O95452 |
IntActi | O95452, 12 interactors |
MINTi | O95452 |
STRINGi | 9606.ENSP00000348521 |
Miscellaneous databases
RNActi | O95452, protein |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QWM8, Eukaryota |
GeneTreei | ENSGT00990000203622 |
HOGENOMi | CLU_037388_4_1_1 |
InParanoidi | O95452 |
OMAi | PNHAIKE |
OrthoDBi | 1043502at2759 |
PhylomeDBi | O95452 |
TreeFami | TF329606 |
Family and domain databases
Gene3Di | 1.20.1440.80, 1 hit |
InterProi | View protein in InterPro IPR000500, Connexin IPR019570, Connexin_CCC IPR017990, Connexin_CS IPR013092, Connexin_N IPR038359, Connexin_N_sf |
PANTHERi | PTHR11984, PTHR11984, 1 hit |
Pfami | View protein in Pfam PF00029, Connexin, 1 hit |
PRINTSi | PR00206, CONNEXIN |
SMARTi | View protein in SMART SM00037, CNX, 1 hit SM01089, Connexin_CCC, 1 hit |
PROSITEi | View protein in PROSITE PS00407, CONNEXINS_1, 1 hit PS00408, CONNEXINS_2, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All
O95452-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MDWGTLHTFI GGVNKHSTSI GKVWITVIFI FRVMILVVAA QEVWGDEQED
60 70 80 90 100
FVCNTLQPGC KNVCYDHFFP VSHIRLWALQ LIFVSTPALL VAMHVAYYRH
110 120 130 140 150
ETTRKFRRGE KRNDFKDIED IKKQKVRIEG SLWWTYTSSI FFRIIFEAAF
160 170 180 190 200
MYVFYFLYNG YHLPWVLKCG IDPCPNLVDC FISRPTEKTV FTIFMISASV
210 220 230 240 250
ICMLLNVAEL CYLLLKVCFR RSKRAQTQKN HPNHALKESK QNEMNELISD
260
SGQNAITGFP S
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A2R8Y4J9 | A0A2R8Y4J9_HUMAN | Gap junction beta-6 protein | GJB6 | 108 | Annotation score: | ||
A0A2R8Y5T6 | A0A2R8Y5T6_HUMAN | Gap junction beta-6 protein | GJB6 | 103 | Annotation score: | ||
A0A2R8YCY0 | A0A2R8YCY0_HUMAN | Gap junction beta-6 protein | GJB6 | 78 | Annotation score: | ||
A0A2R8Y6N2 | A0A2R8Y6N2_HUMAN | Gap junction beta-6 protein | GJB6 | 45 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 11 | G → E in AAV67951 (PubMed:15792634).Curated | 1 | |
Sequence conflicti | 124 | Q → H in CAA06611 (PubMed:10471490).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_008711 | 5 | T → M in DFNA3B. 1 PublicationCorresponds to variant dbSNP:rs104894414EnsemblClinVar. | 1 | |
Natural variantiVAR_015696 | 11 | G → R in ECTD2. 1 PublicationCorresponds to variant dbSNP:rs104894415EnsemblClinVar. | 1 | |
Natural variantiVAR_016838 | 37 | V → E in ECTD2. 1 PublicationCorresponds to variant dbSNP:rs104894416EnsemblClinVar. | 1 | |
Natural variantiVAR_057960 | 59 | G → R Found in one patient with a syndrome resembling Vohwinkel and Bart-Pumphrey syndromes. 1 Publication | 1 | |
Natural variantiVAR_015697 | 88 | A → V in ECTD2. 1 PublicationCorresponds to variant dbSNP:rs28937872EnsemblClinVar. | 1 | |
Natural variantiVAR_022424 | 139 | S → G1 Publication | 1 | |
Natural variantiVAR_048825 | 159 | N → S. Corresponds to variant dbSNP:rs35277762EnsemblClinVar. | 1 | |
Natural variantiVAR_022425 | 199 | S → T1 PublicationCorresponds to variant dbSNP:rs111033338EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ005585 Genomic DNA Translation: CAA06611.1 AY297110 mRNA Translation: AAP51162.1 AK289592 mRNA Translation: BAF82281.1 AK075247 mRNA Translation: BAG52094.1 AL355984 Genomic DNA No translation available. CH471075 Genomic DNA Translation: EAX08254.1 BC038934 mRNA Translation: AAH38934.1 AY789474 mRNA Translation: AAV67951.1 AY789475 mRNA Translation: AAV67952.1 AY789476 mRNA Translation: AAV67953.1 |
CCDSi | CCDS9291.1 |
RefSeqi | NP_001103689.1, NM_001110219.2 NP_001103690.1, NM_001110220.2 NP_001103691.1, NM_001110221.2 NP_006774.2, NM_006783.4 XP_016875846.1, XM_017020357.1 XP_016875847.1, XM_017020358.1 XP_016875848.1, XM_017020359.1 XP_016875849.1, XM_017020360.1 |
Genome annotation databases
Similar proteinsi
Cross-referencesi
Web resourcesi
Connexin-deafness homepage |
Hereditary hearing loss homepage Gene page |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ005585 Genomic DNA Translation: CAA06611.1 AY297110 mRNA Translation: AAP51162.1 AK289592 mRNA Translation: BAF82281.1 AK075247 mRNA Translation: BAG52094.1 AL355984 Genomic DNA No translation available. CH471075 Genomic DNA Translation: EAX08254.1 BC038934 mRNA Translation: AAH38934.1 AY789474 mRNA Translation: AAV67951.1 AY789475 mRNA Translation: AAV67952.1 AY789476 mRNA Translation: AAV67953.1 |
CCDSi | CCDS9291.1 |
RefSeqi | NP_001103689.1, NM_001110219.2 NP_001103690.1, NM_001110220.2 NP_001103691.1, NM_001110221.2 NP_006774.2, NM_006783.4 XP_016875846.1, XM_017020357.1 XP_016875847.1, XM_017020358.1 XP_016875848.1, XM_017020359.1 XP_016875849.1, XM_017020360.1 |
3D structure databases
SMRi | O95452 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 116018, 11 interactors |
CORUMi | O95452 |
IntActi | O95452, 12 interactors |
MINTi | O95452 |
STRINGi | 9606.ENSP00000348521 |
PTM databases
PhosphoSitePlusi | O95452 |
Genetic variation databases
BioMutai | GJB6 |
Proteomic databases
MassIVEi | O95452 |
PaxDbi | O95452 |
PeptideAtlasi | O95452 |
PRIDEi | O95452 |
ProteomicsDBi | 50885 |
Protocols and materials databases
Antibodypediai | 6442, 231 antibodies |
DNASUi | 10804 |
Genome annotation databases
Organism-specific databases
CTDi | 10804 |
DisGeNETi | 10804 |
GeneCardsi | GJB6 |
GeneReviewsi | GJB6 |
HGNCi | HGNC:4288, GJB6 |
HPAi | ENSG00000121742, Tissue enhanced (bone marrow, esophagus, tongue) |
MalaCardsi | GJB6 |
MIMi | 129500, phenotype 604418, gene 612643, phenotype 612645, phenotype |
neXtProti | NX_O95452 |
OpenTargetsi | ENSG00000121742 |
Orphaneti | 90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB 189, Hidrotic ectodermal dysplasia 477, KID syndrome |
PharmGKBi | PA28699 |
VEuPathDBi | HostDB:ENSG00000121742.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QWM8, Eukaryota |
GeneTreei | ENSGT00990000203622 |
HOGENOMi | CLU_037388_4_1_1 |
InParanoidi | O95452 |
OMAi | PNHAIKE |
OrthoDBi | 1043502at2759 |
PhylomeDBi | O95452 |
TreeFami | TF329606 |
Enzyme and pathway databases
PathwayCommonsi | O95452 |
Reactomei | R-HSA-190861, Gap junction assembly |
Miscellaneous databases
BioGRID-ORCSi | 10804, 2 hits in 869 CRISPR screens |
ChiTaRSi | GJB6, human |
GeneWikii | GJB6 |
GenomeRNAii | 10804 |
Pharosi | O95452, Tbio |
PROi | PR:O95452 |
RNActi | O95452, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000121742, Expressed in mouth mucosa and 145 other tissues |
ExpressionAtlasi | O95452, baseline and differential |
Genevisiblei | O95452, HS |
Family and domain databases
Gene3Di | 1.20.1440.80, 1 hit |
InterProi | View protein in InterPro IPR000500, Connexin IPR019570, Connexin_CCC IPR017990, Connexin_CS IPR013092, Connexin_N IPR038359, Connexin_N_sf |
PANTHERi | PTHR11984, PTHR11984, 1 hit |
Pfami | View protein in Pfam PF00029, Connexin, 1 hit |
PRINTSi | PR00206, CONNEXIN |
SMARTi | View protein in SMART SM00037, CNX, 1 hit SM01089, Connexin_CCC, 1 hit |
PROSITEi | View protein in PROSITE PS00407, CONNEXINS_1, 1 hit PS00408, CONNEXINS_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CXB6_HUMAN | |
Accessioni | O95452Primary (citable) accession number: O95452 Secondary accession number(s): B3KQN2 Q8IUP0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1999 |
Last sequence update: | September 19, 2003 | |
Last modified: | February 10, 2021 | |
This is version 174 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 13
Human chromosome 13: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families