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Protein

Gap junction beta-6 protein

Gene

GJB6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 - Biological processi

Keywordsi

Biological processHearing

Enzyme and pathway databases

ReactomeiR-HSA-190861. Gap junction assembly.

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction beta-6 protein
Alternative name(s):
Connexin-30
Short name:
Cx30
Gene namesi
Name:GJB6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000121742.15.
HGNCiHGNC:4288. GJB6.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 22CytoplasmicSequence analysisAdd BLAST22
Transmembranei23 – 45HelicalSequence analysisAdd BLAST23
Topological domaini46 – 75ExtracellularSequence analysisAdd BLAST30
Transmembranei76 – 98HelicalSequence analysisAdd BLAST23
Topological domaini99 – 131CytoplasmicSequence analysisAdd BLAST33
Transmembranei132 – 154HelicalSequence analysisAdd BLAST23
Topological domaini155 – 192ExtracellularSequence analysisAdd BLAST38
Transmembranei193 – 215HelicalSequence analysisAdd BLAST23
Topological domaini216 – 261CytoplasmicSequence analysisAdd BLAST46

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Involvement in diseasei

Ectodermal dysplasia 2, Clouston type (ECTD2)2 Publications
The disease is caused by mutations 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.
See also OMIM:129500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01569611G → R in ECTD2. 1 PublicationCorresponds to variant dbSNP:rs104894415Ensembl.1
Natural variantiVAR_01683837V → E in ECTD2. 1 PublicationCorresponds to variant dbSNP:rs104894416Ensembl.1
Natural variantiVAR_01569788A → V in ECTD2. 1 PublicationCorresponds to variant dbSNP:rs28937872Ensembl.1
Deafness, autosomal recessive, 1B (DFNB1B)2 Publications
The disease is caused by mutations 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.
See also OMIM:612645
Deafness, autosomal dominant, 3B (DFNA3B)1 Publication
The disease is caused by mutations 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.
See also OMIM:612643
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0087115T → M in DFNA3B. 1 PublicationCorresponds to variant dbSNP:rs104894414Ensembl.1

Keywords - Diseasei

Deafness, Disease mutation, Ectodermal dysplasia, Non-syndromic deafness, Palmoplantar keratoderma

Organism-specific databases

DisGeNETi10804.
GeneReviewsiGJB6.
MalaCardsiGJB6.
MIMi129500. phenotype.
612643. phenotype.
612645. phenotype.
OpenTargetsiENSG00000121742.
Orphaneti90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
189. Hidrotic ectodermal dysplasia.
477. KID syndrome.
PharmGKBiPA28699.

Polymorphism and mutation databases

BioMutaiGJB6.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000578711 – 261Gap junction beta-6 proteinAdd BLAST261

Proteomic databases

PaxDbiO95452.
PeptideAtlasiO95452.
PRIDEiO95452.

PTM databases

PhosphoSitePlusiO95452.

Expressioni

Gene expression databases

BgeeiENSG00000121742.
CleanExiHS_GJB6.
ExpressionAtlasiO95452. baseline and differential.
GenevisibleiO95452. HS.

Organism-specific databases

HPAiHPA014846.

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity).By similarity

Protein-protein interaction databases

BioGridi116018. 1 interactor.
CORUMiO95452.
IntActiO95452. 1 interactor.
STRINGi9606.ENSP00000241124.

Structurei

3D structure databases

ProteinModelPortaliO95452.
SMRiO95452.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFM8. Eukaryota.
ENOG410Y7VN. LUCA.
GeneTreeiENSGT00900000140773.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiO95452.
KOiK07625.
OMAiQTQRNHP.
OrthoDBiEOG091G0FKH.
PhylomeDBiO95452.
TreeFamiTF329606.

Family and domain databases

InterProiView protein in InterPro
IPR000500. Connexin.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
PANTHERiPTHR11984. PTHR11984. 1 hit.
PfamiView protein in Pfam
PF00029. Connexin. 1 hit.
PRINTSiPR00206. CONNEXIN.
SMARTiView protein in SMART
SM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
PROSITEiView protein in PROSITE
PS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.

Sequencei

Sequence statusi: Complete.

O95452-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:261
Mass (Da):30,387
Last modified:September 19, 2003 - v2
Checksum:i394A2D97E08EEB43
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti11G → E in AAV67951 (PubMed:15792634).Curated1
Sequence conflicti124Q → H in CAA06611 (PubMed:10471490).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0087115T → M in DFNA3B. 1 PublicationCorresponds to variant dbSNP:rs104894414Ensembl.1
Natural variantiVAR_01569611G → R in ECTD2. 1 PublicationCorresponds to variant dbSNP:rs104894415Ensembl.1
Natural variantiVAR_01683837V → E in ECTD2. 1 PublicationCorresponds to variant dbSNP:rs104894416Ensembl.1
Natural variantiVAR_05796059G → R Found in one patient with a syndrome resembling Vohwinkel and Bart-Pumphrey syndromes. 1 Publication1
Natural variantiVAR_01569788A → V in ECTD2. 1 PublicationCorresponds to variant dbSNP:rs28937872Ensembl.1
Natural variantiVAR_022424139S → G1 Publication1
Natural variantiVAR_048825159N → S. Corresponds to variant dbSNP:rs35277762Ensembl.1
Natural variantiVAR_022425199S → T1 PublicationCorresponds to variant dbSNP:rs111033338Ensembl.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.
CCDSiCCDS9291.1.
RefSeqiNP_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.
UniGeneiHs.511757.

Genome annotation databases

EnsembliENST00000241124; ENSP00000241124; ENSG00000121742.
ENST00000356192; ENSP00000348521; ENSG00000121742.
ENST00000400065; ENSP00000382938; ENSG00000121742.
ENST00000400066; ENSP00000382939; ENSG00000121742.
ENST00000636852; ENSP00000489698; ENSG00000121742.
GeneIDi10804.
KEGGihsa:10804.
UCSCiuc001umz.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCXB6_HUMAN
AccessioniPrimary (citable) accession number: O95452
Secondary accession number(s): B3KQN2
, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: September 19, 2003
Last modified: October 25, 2017
This is version 152 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families