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

Gene ID: 10804, updated on 17-Sep-2024

Summary

Official Symbol
GJB6provided by HGNC
Official Full Name
gap junction protein beta 6provided by HGNC
Primary source
HGNC:HGNC:4288
See related
Ensembl:ENSG00000121742 MIM:604418; AllianceGenome:HGNC:4288
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]
Expression
Biased expression in esophagus (RPKM 49.4), bone marrow (RPKM 18.1) and 3 other tissues See more
Orthologs
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Genomic context

See GJB6 in Genome Data Viewer
Location:
13q12.11
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (20221962..20232319, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (19418446..19428785, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (20796101..20806458, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984553 Neighboring gene peptidylprolyl isomerase A pseudogene 28 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7417 Neighboring gene gap junction protein beta 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32461 Neighboring gene uncharacterized LOC105370102 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr13:20924041-20924563 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:20953976-20955175 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:20965718-20966226 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:20966227-20966734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:20979975-20980494 Neighboring gene NANOG hESC enhancer GRCh37_chr13:20986998-20987499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:20989417-20989998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:20989999-20990580 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:20993166-20994365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7418 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7421 Neighboring gene crystallin lambda 1 Neighboring gene microRNA 4499

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
enables beta-tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables gap junction channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables gap junction channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables gap junction channel activity involved in cell communication by electrical coupling IDA
Inferred from Direct Assay
more info
PubMed 
enables microtubule binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell communication by electrical coupling IEA
Inferred from Electronic Annotation
more info
 
involved_in cell-cell signaling IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in gap junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in gap junction assembly NAS
Non-traceable Author Statement
more info
PubMed 
involved_in gap junction-mediated intercellular transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in gap junction-mediated intercellular transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in inner ear development IEA
Inferred from Electronic Annotation
more info
 
involved_in maintenance of blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
involved_in negative regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in response to electrical stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
involved_in sinoatrial node development NAS
Non-traceable Author Statement
more info
PubMed 
involved_in transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in actin filament IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in cell junction IDA
Inferred from Direct Assay
more info
 
part_of connexin complex IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in gap junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in gap junction NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
gap junction beta-6 protein
Names
connexin 30
ectodermal dysplasia 2, hidrotic (Clouston syndrome)
gap junction protein, beta 6, 30kDa

NCBI Reference Sequences (RefSeq)

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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
    5077..15434
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1395

mRNA and Protein(s)

  1. NM_001110219.3NP_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
    B3KQN2, O95452, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
    UniProtKB/TrEMBL
    A0A024RDS4
    Related
    ENSP00000493834.1, ENST00000647029.1
    Conserved Domains (1) summary
    pfam00029
    Location:2215
    Connexin
  2. NM_001110220.3NP_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
    B3KQN2, O95452, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
    UniProtKB/TrEMBL
    A0A024RDS4
    Related
    ENSP00000495320.1, ENST00000644283.1
    Conserved Domains (1) summary
    pfam00029
    Location:2215
    Connexin
  3. NM_001110221.3NP_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
    B3KQN2, O95452, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
    UniProtKB/TrEMBL
    A0A024RDS4
    Related
    ENSP00000382938.3, ENST00000400065.7
    Conserved Domains (1) summary
    pfam00029
    Location:2215
    Connexin
  4. NM_001370090.1NP_001357019.1  gap junction beta-6 protein

    Status: REVIEWED

    Source sequence(s)
    AL355984
    Consensus CDS
    CCDS9291.1
    UniProtKB/Swiss-Prot
    B3KQN2, O95452, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
    UniProtKB/TrEMBL
    A0A024RDS4
    Related
    ENSP00000495841.1, ENST00000643211.1
    Conserved Domains (1) summary
    pfam00029
    Location:2215
    Connexin
  5. NM_001370091.1NP_001357020.1  gap junction beta-6 protein

    Status: REVIEWED

    Source sequence(s)
    AL355984, DC420777
    Consensus CDS
    CCDS9291.1
    UniProtKB/Swiss-Prot
    B3KQN2, O95452, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
    UniProtKB/TrEMBL
    A0A024RDS4
    Related
    ENSP00000382939.3, ENST00000400066.8
    Conserved Domains (1) summary
    pfam00029
    Location:2215
    Connexin
  6. NM_001370092.1NP_001357021.1  gap junction beta-6 protein

    Status: REVIEWED

    Source sequence(s)
    AL355984
    Consensus CDS
    CCDS9291.1
    UniProtKB/Swiss-Prot
    B3KQN2, O95452, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
    UniProtKB/TrEMBL
    A0A024RDS4
    Related
    ENSP00000494733.1, ENST00000647243.1
    Conserved Domains (1) summary
    pfam00029
    Location:2215
    Connexin
  7. NM_006783.5NP_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
    Consensus CDS
    CCDS9291.1
    UniProtKB/Swiss-Prot
    B3KQN2, O95452, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
    UniProtKB/TrEMBL
    A0A024RDS4
    Related
    ENSP00000241124.6, ENST00000241124.11
    Conserved Domains (1) summary
    pfam00029
    Location:2215
    Connexin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    20221962..20232319 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047430056.1XP_047286012.1  gap junction beta-6 protein isoform X1

    UniProtKB/Swiss-Prot
    B3KQN2, O95452, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
    UniProtKB/TrEMBL
    A0A024RDS4
  2. XM_047430057.1XP_047286013.1  gap junction beta-6 protein isoform X1

    UniProtKB/Swiss-Prot
    B3KQN2, O95452, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
    UniProtKB/TrEMBL
    A0A024RDS4
    Related
    ENSP00000493621.1, ENST00000644667.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    19418446..19428785 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374035.1XP_054230010.1  gap junction beta-6 protein isoform X1

    UniProtKB/Swiss-Prot
    B3KQN2, O95452, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
    UniProtKB/TrEMBL
    A0A024RDS4
  2. XM_054374036.1XP_054230011.1  gap junction beta-6 protein isoform X1

    UniProtKB/Swiss-Prot
    B3KQN2, O95452, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
    UniProtKB/TrEMBL
    A0A024RDS4