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GJB4 gap junction protein beta 4 [ Homo sapiens (human) ]

Gene ID: 127534, updated on 19-Mar-2019

Summary

Official Symbol
GJB4provided by HGNC
Official Full Name
gap junction protein beta 4provided by HGNC
Primary source
HGNC:HGNC:4286
See related
Ensembl:ENSG00000189433 MIM:605425
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
EKV; EKVP2; CX30.3
Summary
This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq, Dec 2009]
Expression
Biased expression in skin (RPKM 10.4), gall bladder (RPKM 1.6) and 2 other tissues See more
Orthologs

Genomic context

See GJB4 in Genome Data Viewer
Location:
1p34.3
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (34759741..34763724)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (35225342..35229325)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378641 Neighboring gene microRNA 552 Neighboring gene uncharacterized LOC105378642 Neighboring gene gap junction protein beta 5 Neighboring gene gap junction protein beta 3 Neighboring gene gap junction protein alpha 4

Genomic regions, transcripts, and products

Expression

  • Project title: 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC21116

Gene Ontology Provided by GOA

Function Evidence Code Pubs
gap junction channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
cell-cell signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
gap junction-mediated intercellular transport ISS
Inferred from Sequence or Structural Similarity
more info
 
olfactory behavior IEA
Inferred from Electronic Annotation
more info
 
sensory perception of smell IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell junction IDA
Inferred from Direct Assay
more info
 
connexin complex ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
gap junction beta-4 protein
Names
connexin 30.3
gap junction protein, beta 4, 30.3kDa

NCBI Reference Sequences (RefSeq)

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_016243.1 RefSeqGene

    Range
    5000..7587
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_153212.3NP_694944.1  gap junction beta-4 protein

    See identical proteins and their annotated locations for NP_694944.1

    Status: REVIEWED

    Source sequence(s)
    AK057628, AL121988
    Consensus CDS
    CCDS383.1
    UniProtKB/Swiss-Prot
    Q9NTQ9
    Related
    ENSP00000345868.1, ENST00000339480.1
    Conserved Domains (1) summary
    pfam00029
    Location:2210
    Connexin; Connexin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    34759741..34763724
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540679.2XP_011538981.1  gap junction beta-4 protein isoform X1

    See identical proteins and their annotated locations for XP_011538981.1

    UniProtKB/Swiss-Prot
    Q9NTQ9
    Conserved Domains (1) summary
    pfam00029
    Location:2210
    Connexin; Connexin
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