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O95452 (CXB6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 125. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Gap junction beta-6 protein
Alternative name(s):
Connexin-30
Short name=Cx30
Gene names
Name:GJB6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length261 AA.
Sequence statusComplete.
Protein existenceEvidence 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 junctiongap junction.

Involvement in disease

Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12 Ref.13

Deafness, autosomal recessive, 1B (DFNB1B) [MIM:612645]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.11

Deafness, autosomal dominant, 3B (DFNA3B) [MIM:612643]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1

Sequence similarities

Belongs to the connexin family. Beta-type (group I) subfamily.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 261261Gap junction beta-6 protein
PRO_0000057871

Regions

Topological domain1 – 2222Cytoplasmic Potential
Transmembrane23 – 4523Helical; Potential
Topological domain46 – 7530Extracellular Potential
Transmembrane76 – 9823Helical; Potential
Topological domain99 – 13133Cytoplasmic Potential
Transmembrane132 – 15423Helical; Potential
Topological domain155 – 19238Extracellular Potential
Transmembrane193 – 21523Helical; Potential
Topological domain216 – 26146Cytoplasmic Potential

Natural variations

Natural variant51T → M in DFNA3B. Ref.1
VAR_008711
Natural variant111G → R in ECTD2. Ref.12
VAR_015696
Natural variant371V → E in ECTD2. Ref.13
VAR_016838
Natural variant591G → R Found in one patient with a syndrome resembling Vohwinkel and Bart-Pumphrey syndromes. Ref.14
VAR_057960
Natural variant881A → V in ECTD2. Ref.12
Corresponds to variant rs28937872 [ dbSNP | Ensembl ].
VAR_015697
Natural variant1391S → G. Ref.2
VAR_022424
Natural variant1591N → S.
Corresponds to variant rs35277762 [ dbSNP | Ensembl ].
VAR_048825
Natural variant1991S → T. Ref.2
Corresponds to variant rs111033338 [ dbSNP | Ensembl ].
VAR_022425

Experimental info

Sequence conflict111G → E in AAV67951. Ref.9
Sequence conflict1241Q → H in CAA06611. Ref.1

Sequences

Sequence LengthMass (Da)Tools
O95452 [UniParc].

Last modified September 19, 2003. Version 2.
Checksum: 394A2D97E08EEB43

FASTA26130,387
        10         20         30         40         50         60 
MDWGTLHTFI GGVNKHSTSI GKVWITVIFI FRVMILVVAA QEVWGDEQED FVCNTLQPGC 

        70         80         90        100        110        120 
KNVCYDHFFP VSHIRLWALQ LIFVSTPALL VAMHVAYYRH ETTRKFRRGE KRNDFKDIED 

       130        140        150        160        170        180 
IKKQKVRIEG SLWWTYTSSI FFRIIFEAAF MYVFYFLYNG YHLPWVLKCG IDPCPNLVDC 

       190        200        210        220        230        240 
FISRPTEKTV FTIFMISASV ICMLLNVAEL CYLLLKVCFR RSKRAQTQKN HPNHALKESK 

       250        260 
QNEMNELISD SGQNAITGFP S 

« Hide

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] [Europe PMC] [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] [Europe PMC] [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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [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. expand/collapse author list , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [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. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
Nature 428:522-528(2004) [PubMed] [Europe PMC] [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. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., 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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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. expand/collapse author list , Villamar M., Avraham K.B., Dahl H.H., Kanaan M., Nance W.E., Petit C., Smith R.J., Van Camp G., Sartorato E.L., Murgia A., Moreno F., del Castillo I.
J. Med. Genet. 42:588-594(2005) [PubMed] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: VARIANTS ECTD2 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] [Europe PMC] [Abstract]
Cited for: VARIANT ECTD2 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] [Europe PMC] [Abstract]
Cited for: VARIANT ARG-59.
+Additional computationally mapped references.

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.
RefSeqNP_001103689.1. NM_001110219.2.
NP_001103690.1. NM_001110220.2.
NP_001103691.1. NM_001110221.2.
NP_006774.2. NM_006783.4.
UniGeneHs.511757.

3D structure databases

ProteinModelPortalO95452.
SMRO95452. Positions 2-216.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116018. 1 interaction.
STRING9606.ENSP00000241124.

Chemistry

GuidetoPHARMACOLOGY717.

Proteomic databases

PaxDbO95452.
PRIDEO95452.

Protocols and materials databases

DNASU10804.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000241124; ENSP00000241124; ENSG00000121742.
ENST00000356192; ENSP00000348521; ENSG00000121742.
ENST00000400065; ENSP00000382938; ENSG00000121742.
ENST00000400066; ENSP00000382939; ENSG00000121742.
GeneID10804.
KEGGhsa:10804.
UCSCuc001umz.4. human.

Organism-specific databases

CTD10804.
GeneCardsGC13M020796.
HGNCHGNC:4288. GJB6.
HPAHPA014846.
MIM129500. phenotype.
604418. gene.
612643. phenotype.
612645. phenotype.
neXtProtNX_O95452.
Orphanet90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
189. Hidrotic ectodermal dysplasia.
477. KID syndrome.
PharmGKBPA28699.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG39645.
HOGENOMHOG000231127.
HOVERGENHBG009576.
InParanoidO95452.
KOK07625.
OMAQTQRNHP.
OrthoDBEOG7P2XSS.
PhylomeDBO95452.
TreeFamTF329606.

Enzyme and pathway databases

ReactomeREACT_11123. Membrane Trafficking.

Gene expression databases

BgeeO95452.
CleanExHS_GJB6.
GenevestigatorO95452.

Family and domain databases

InterProIPR000500. Connexin.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERPTHR11984. PTHR11984. 1 hit.
PfamPF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]
PRINTSPR00206. CONNEXIN.
SMARTSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGJB6.
GenomeRNAi10804.
NextBio41041.
PROO95452.
SOURCESearch...

Entry information

Entry nameCXB6_HUMAN
AccessionPrimary (citable) accession number: O95452
Secondary accession number(s): B3KQN2 expand/collapse secondary AC list , Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: September 19, 2003
Last modified: April 16, 2014
This is version 125 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM