O95452 (CXB6_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 103.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Gap junction beta-6 protein Alternative name(s): Connexin-30 Short name=Cx30 | ||
| Gene names |
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| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 261 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | 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. |
| Subunit structure | A connexon is composed of a hexamer of connexins. Interacts with CNST By similarity. |
| Subcellular location | Cell membrane; Multi-pass membrane protein. Cell junction › gap junction. |
| Involvement in disease | Defects in GJB6 are the cause of ectodermal dysplasia type 2 (ED2) [MIM:129500]; also known as Clouston syndrome. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. ED2 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 features. Hearing impairment has been detected in few cases of ED2. Ref.12 Ref.13 Defects in GJB6 are the cause of deafness autosomal recessive type 1B (DFNB1B) [MIM:612645]. DFNB1B is a form of 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. Ref.10 Ref.11 Defects in GJB6 are the cause of deafness autosomal dominant type 3B (DFNA3B) [MIM:612643]. |
| Sequence similarities | Belongs to the connexin family. Beta-type (group I) subfamily. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Hearing |
| Cellular component | Cell junction Cell membrane Gap junction Membrane |
| Coding sequence diversity | Polymorphism |
| Disease | Deafness Disease mutation Ectodermal dysplasia Non-syndromic deafness Palmoplantar keratoderma |
| Domain | Transmembrane Transmembrane helix |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | cell communication Inferred from electronic annotation. Source: InterPro sensory perception of soundTraceable author statement. Source: ProtInc |
| Cellular component | connexon complex Inferred from electronic annotation. Source: InterPro integral to membraneInferred from electronic annotation. Source: UniProtKB-KW intracellular membrane-bounded organelleInferred from direct assay. Source: HPA |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 261 | 261 | Gap junction beta-6 protein | PRO_0000057871 | |||||
Regions | |||||||||
| Topological domain | 1 – 22 | 22 | Cytoplasmic Potential | ||||||
| Transmembrane | 23 – 45 | 23 | Helical; Potential | ||||||
| Topological domain | 46 – 75 | 30 | Extracellular Potential | ||||||
| Transmembrane | 76 – 98 | 23 | Helical; Potential | ||||||
| Topological domain | 99 – 131 | 33 | Cytoplasmic Potential | ||||||
| Transmembrane | 132 – 154 | 23 | Helical; Potential | ||||||
| Topological domain | 155 – 192 | 38 | Extracellular Potential | ||||||
| Transmembrane | 193 – 215 | 23 | Helical; Potential | ||||||
| Topological domain | 216 – 261 | 46 | Cytoplasmic Potential | ||||||
Natural variations | |||||||||
| Natural variant | 5 | 1 | T → M in DFNA3B. Ref.1 | VAR_008711 | |||||
| Natural variant | 11 | 1 | G → R in ED2. Ref.12 | VAR_015696 | |||||
| Natural variant | 37 | 1 | V → E in ED2. Ref.13 | VAR_016838 | |||||
| Natural variant | 59 | 1 | G → R Found in one patient with a syndrome resembling Vohwinkel and Bart-Pumphrey syndromes. Ref.14 | VAR_057960 | |||||
| Natural variant | 88 | 1 | A → V in ED2. Ref.12 Corresponds to variant rs28937872 [ dbSNP | Ensembl ]. | VAR_015697 | |||||
| Natural variant | 139 | 1 | S → G. Ref.2 | VAR_022424 | |||||
| Natural variant | 159 | 1 | N → S. Corresponds to variant rs35277762 [ dbSNP | Ensembl ]. | VAR_048825 | |||||
| Natural variant | 199 | 1 | S → T. Ref.2 | VAR_022425 | |||||
Experimental info | |||||||||
| Sequence conflict | 11 | 1 | G → E in AAV67951. Ref.9 | ||||||
| Sequence conflict | 124 | 1 | Q → H in CAA06611. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus." Grifa A., Wagner C.A., D'Ambrosio L., Melchionda S., Bernardi F., Lopez-Bigas N., Rabionet R., Arbones M., Monica M.D., Estivill X., Zelante L., Lang F., Gasparini P. Nat. Genet. 23:16-18(1999) [PubMed: 10471490] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT DFNA3B MET-5. |
| [2] | "Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12." Kelley P.M., Abe S., Askew J.W., Smith S.D., Usami S., Kimberling W.J. Genomics 62:172-176(1999) [PubMed: 10610709] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLY-139 AND THR-199. |
| [3] | "Human connexin30, updated ORF." Enriquez A.D., Scherer S.S. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Corpus callosum. |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain cortex. |
| [5] | "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. Isogai T.DNA Res. 12:117-126(2005) [PubMed: 16303743] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Thyroid. |
| [6] | "The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. Ross M.T.Nature 428:522-528(2004) [PubMed: 15057823] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [8] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain. |
| [9] | "Gene structure and promoter analysis of the human GJB6 gene encoding connexin 30." Essenfelder G.M., Larderet G., Waksman G., Lamartine J. Gene 350:33-40(2005) [PubMed: 15792634] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-40, GENE STRUCTURE. Tissue: Hair follicle. |
| [10] | "A deletion involving the connexin 30 gene in nonsyndromic hearing impairment." del Castillo I., Villamar M., Moreno-Pelayo M.A., del Castillo F.J., Alvarez A., Telleria D., Menendez I., Moreno F. N. Engl. J. Med. 346:243-249(2002) [PubMed: 11807148] [Abstract] Cited for: INVOLVEMENT IN DFNB1B. |
| [11] | "A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment." del Castillo F.J., Rodriguez-Ballesteros M., Alvarez A., Hutchin T., Leonardi E., de Oliveira C.A., Azaiez H., Brownstein Z., Avenarius M.R., Marlin S., Pandya A., Shahin H., Siemering K.R., Weil D., Wuyts W., Aguirre L.A., Martin Y., Moreno-Pelayo M.A. del Castillo I.J. Med. Genet. 42:588-594(2005) [PubMed: 15994881] [Abstract] Cited for: INVOLVEMENT IN DFNB1B. |
| [12] | "Mutations in GJB6 cause hidrotic ectodermal dysplasia." Lamartine J., Munhoz Essenfelder G., Kibar Z., Lanneluc I., Callouet E., Laoudj D., Lemaitre G., Hand C., Hayflick S.J., Zonana J., Antonarakis S., Radhakrishna U., Kelsell D.P., Christianson A.L., Pitaval A., Der Kaloustian V., Fraser C., Blanchet-Bardon C., Rouleau G.A., Waksman G. Nat. Genet. 26:142-144(2000) [PubMed: 11017065] [Abstract] Cited for: VARIANTS ED2 ARG-11 AND VAL-88. |
| [13] | "A novel connexin 30 mutation in Clouston syndrome." Smith F.J., Morley S.M., McLean W.H.I. J. Invest. Dermatol. 118:530-532(2002) [PubMed: 11874494] [Abstract] Cited for: VARIANT ED2 GLU-37. |
| [14] | "Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss." Nemoto-Hasebe I., Akiyama M., Kudo S., Ishiko A., Tanaka A., Arita K., Shimizu H. Br. J. Dermatol. 161:452-455(2009) [PubMed: 19416251] [Abstract] Cited for: VARIANT ARG-59. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AJ005585 Genomic DNA. Translation: CAA06611.1. AY297110 mRNA. Translation: AAP51162.1. AK289592 mRNA. Translation: BAF82281.1. AK075247 mRNA. Translation: BAG52094.1. AL355984 Genomic DNA. Translation: CAI14832.1. 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. |
| IPI | IPI00030763. |
| RefSeq | NP_001103689.1. NM_001110219.2. NP_001103690.1. NM_001110220.2. NP_001103691.1. NM_001110221.2. NP_006774.2. NM_006783.4. |
| UniGene | Hs.511757. |
3D structure databases | |
| ProteinModelPortal | O95452. |
| SMR | O95452. Positions 2-216. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | O95452. |
Proteomic databases | |
| PRIDE | O95452. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000241124; ENSP00000241124; ENSG00000121742. ENST00000356192; ENSP00000348521; ENSG00000121742. ENST00000400065; ENSP00000382938; ENSG00000121742. ENST00000400066; ENSP00000382939; ENSG00000121742. |
| GeneID | 10804. |
| KEGG | hsa:10804. |
| UCSC | uc001umz.2. human. |
Organism-specific databases | |
| CTD | 10804. |
| GeneCards | GC13M020796. |
| H-InvDB | HIX0026551. |
| HGNC | HGNC:4288. GJB6. |
| HPA | HPA014846. |
| MIM | 129500. phenotype. 604418. gene. 612643. phenotype. 612645. phenotype. |
| neXtProt | NX_O95452. |
| Orphanet | 90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA. 90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB. 189. Clouston syndrome. 477. KID syndrome. |
| PharmGKB | PA28699. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG18755. |
| GeneTree | ENSGT00560000076934. |
| HOVERGEN | HBG009576. |
| InParanoid | O95452. |
| OMA | RNEFKDI. |
| OrthoDB | EOG4PK28F. |
| PhylomeDB | O95452. |
Enzyme and pathway databases | |
| Reactome | REACT_11123. Membrane Trafficking. |
Gene expression databases | |
| ArrayExpress | O95452. |
| Bgee | O95452. |
| CleanEx | HS_GJB6. |
| Genevestigator | O95452. |
| GermOnline | ENSG00000121742. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000500. Connexin. IPR019570. Connexin_CCC. IPR017990. Connexin_CS. IPR013092. Connexin_N. [Graphical view] |
| KO | K07625. |
| PANTHER | PTHR11984. Connexin. 1 hit. |
| Pfam | PF00029. Connexin. 1 hit. PF10582. Connexin_CCC. 1 hit. [Graphical view] |
| PRINTS | PR00206. CONNEXIN. |
| SMART | SM00037. CNX. 1 hit. SM01089. Connexin_CCC. 1 hit. [Graphical view] |
| PROSITE | PS00407. CONNEXINS_1. 1 hit. PS00408. CONNEXINS_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 41041. |
| SOURCE | Search... |
Entry information
| Entry name | CXB6_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O95452 Secondary accession number(s): B3KQN2 Q8IUP0 | ||||||||
| Entry history |
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| Entry status | 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. | ||||||||
Relevant documents
| Human chromosome 13 Human chromosome 13: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with