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GJB6 gap junction protein beta 6 [ Homo sapiens (human) ]

Gene ID: 10804, updated on 8-May-2016
Official Symbol
GJB6provided by HGNC
Official Full Name
gap junction protein beta 6provided by HGNC
Primary source
HGNC:HGNC:4288
See related
Ensembl:ENSG00000121742 HPRD:05107; MIM:604418; Vega:OTTHUMG00000016515
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ED2; EDH; HED; CX30; HED2; DFNA3; ECTD2; DFNA3B; DFNB1B
Summary
Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]
Orthologs
Location:
13q12
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 13 NC_000013.11 (20221962..20232395, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (20796101..20806534, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene peptidylprolyl isomerase A pseudogene 28 Neighboring gene gap junction protein beta 2 Neighboring gene uncharacterized LOC105370102 Neighboring gene crystallin lambda 1 Neighboring gene microRNA 4499

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
    Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
  • Gap junction assembly, organism-specific biosystem (from REACTOME)
    Gap junction assembly, organism-specific biosystemThe assembly of gap junctions involves (1) synthesis of connexin polypeptides at endoplasmic reticulum membranes, (2) oligomerization into homomeric- and heteromeric gap junction connexons (hemi-chan...
  • Gap junction trafficking, organism-specific biosystem (from REACTOME)
    Gap junction trafficking, organism-specific biosystemGap junctions are intercellular communication channels formed from Cx (connexin) protein subunits (see Segretain and Falk 2004 and Evans et al. 2006 for comprehensive reviews). Connexins are transpor...
  • Gap junction trafficking and regulation, organism-specific biosystem (from REACTOME)
    Gap junction trafficking and regulation, organism-specific biosystemGap junctions are clusters of intercellular channels connecting adjacent cells and permitting the direct exchange of ions and small molecules between cells. These channels are composed of two hemicha...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
aging IEA
Inferred from Electronic Annotation
more info
 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cell communication IEA
Inferred from Electronic Annotation
more info
 
cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
 
ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
inner ear development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
response to electrical stimulus IEA
Inferred from Electronic Annotation
more info
 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cell junction IDA
Inferred from Direct Assay
more info
 
connexon complex IEA
Inferred from Electronic Annotation
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
gap junction beta-6 protein
Names
connexin 30
connexin-30
ectodermal dysplasia 2, hidrotic (Clouston syndrome)
gap junction protein, beta 6 (connexin 30)
gap junction protein, beta 6, 30kDa

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008323.1 RefSeqGene

    Range
    6163..15434
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001110219.2NP_001103689.1  gap junction beta-6 protein

    See identical proteins and their annotated locations for NP_001103689.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All variants encode the same protein.
    Source sequence(s)
    AK075247, BC038934, BP227986, CF453597, DN998505
    Consensus CDS
    CCDS9291.1
    UniProtKB/Swiss-Prot
    O95452
    UniProtKB/TrEMBL
    A0A024RDS4
    Related
    ENSP00000348521, OTTHUMP00000176870, ENST00000356192, OTTHUMT00000272906
    Conserved Domains (2) summary
    pfam00029
    Location:2108
    Connexin; Connexin
    smart01089
    Location:146213
    Connexin_CCC; Gap junction channel protein cysteine-rich domain
  2. NM_001110220.2NP_001103690.1  gap junction beta-6 protein

    See identical proteins and their annotated locations for NP_001103690.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a segment in the 5' UTR, compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AY789475, BC038934, BP227986, DB577868, DN998505
    Consensus CDS
    CCDS9291.1
    UniProtKB/Swiss-Prot
    O95452
    UniProtKB/TrEMBL
    A0A024RDS4
    Related
    ENSP00000382939, OTTHUMP00000176872, ENST00000400066, OTTHUMT00000044070
    Conserved Domains (2) summary
    pfam00029
    Location:2108
    Connexin; Connexin
    smart01089
    Location:146213
    Connexin_CCC; Gap junction channel protein cysteine-rich domain
  3. NM_001110221.2NP_001103691.1  gap junction beta-6 protein

    See identical proteins and their annotated locations for NP_001103691.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two 5' UTR segments, compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    BC038934, BP227986, DB577868, DN998505
    Consensus CDS
    CCDS9291.1
    UniProtKB/Swiss-Prot
    O95452
    UniProtKB/TrEMBL
    A0A024RDS4
    Related
    ENSP00000382938, OTTHUMP00000176871, ENST00000400065, OTTHUMT00000044069
    Conserved Domains (2) summary
    pfam00029
    Location:2108
    Connexin; Connexin
    smart01089
    Location:146213
    Connexin_CCC; Gap junction channel protein cysteine-rich domain
  4. NM_006783.4NP_006774.2  gap junction beta-6 protein

    See identical proteins and their annotated locations for NP_006774.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AK289592, BC038934, BE181310, DC337465
    Consensus CDS
    CCDS9291.1
    UniProtKB/Swiss-Prot
    O95452
    UniProtKB/TrEMBL
    A0A024RDS4
    Related
    ENSP00000241124, OTTHUMP00000018096, ENST00000241124, OTTHUMT00000044068
    Conserved Domains (2) summary
    pfam00029
    Location:2108
    Connexin; Connexin
    smart01089
    Location:146213
    Connexin_CCC; Gap junction channel protein cysteine-rich domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p2 Primary Assembly

    Range
    20221962..20232395 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 Alternate CHM1_1.1

    Range
    20764612..20775034 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)