Details for: GJB6

Gene ID: 10804

Symbol: GJB6

Ensembl ID: ENSG00000121742

Description: gap junction protein beta 6

Associated with

Other Information

Genular Protein ID: 4192315414

Symbol: CXB6_HUMAN

Name: Gap junction beta-6 protein

UniProtKB Accession Codes:

O95452 B3KQN2 Q5Q1H9 Q5Q1I0 Q5Q1I1 Q5T5U0 Q8IUP0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 10 Ensembl 10 ExpressionAtlas 1 GO 23 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 8 SMART 2 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 neXtProt 1

Citations:

PubMed ID: 10471490

Title: Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.

PubMed ID: 10471490

DOI: 10.1038/12612

PubMed ID: 10610709

Title: Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12.

PubMed ID: 10610709

DOI: 10.1006/geno.1999.6002

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16303743

Title: Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.

PubMed ID: 16303743

DOI: 10.1093/dnares/12.2.117

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15792634

Title: Gene structure and promoter analysis of the human GJB6 gene encoding connexin 30.

PubMed ID: 15792634

DOI: 10.1016/j.gene.2004.12.048

PubMed ID: 11807148

Title: A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.

PubMed ID: 11807148

DOI: 10.1056/nejmoa012052

PubMed ID: 15994881

Title: 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.

PubMed ID: 15994881

DOI: 10.1136/jmg.2004.028324

PubMed ID: 11017065

Title: Mutations in GJB6 cause hidrotic ectodermal dysplasia.

PubMed ID: 11017065

DOI: 10.1038/79851

PubMed ID: 11874494

Title: A novel connexin 30 mutation in Clouston syndrome.

PubMed ID: 11874494

DOI: 10.1046/j.0022-202x.2001.01689.x

PubMed ID: 19416251

Title: Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.

PubMed ID: 19416251

DOI: 10.1111/j.1365-2133.2009.09137.x

Sequence Information:

  • Length: 261
  • Mass: 30387
  • Checksum: 394A2D97E08EEB43
  • Sequence:
    • 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

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.