U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 127534, updated on 8-Dec-2022

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; AllianceGenome:HGNC:4286
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See GJB4 in Genome Data Viewer
Location:
1p34.3
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (34759740..34762327)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (34622378..34624965)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (35225341..35227928)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes 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 Functions

What's a GeneRIF?

Pathways from PubChem

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
enables gap junction channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell-cell signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in gap junction-mediated intercellular transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in olfactory behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory perception of smell IEA
Inferred from Electronic Annotation
more info
 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cell junction IDA
Inferred from Direct Assay
more info
 
part_of connexin complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
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)

NEW Try the new Transcript table

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), LRG_1331

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
    B3KQ82, Q9NTQ9
    UniProtKB/TrEMBL
    A0A654IBS8
    Related
    ENSP00000345868.1, ENST00000339480.3
    Conserved Domains (1) summary
    pfam00029
    Location:2210
    Connexin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    34759740..34762327
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540679.3XP_011538981.1  gap junction beta-4 protein isoform X1

    See identical proteins and their annotated locations for XP_011538981.1

    UniProtKB/Swiss-Prot
    B3KQ82, Q9NTQ9
    UniProtKB/TrEMBL
    A0A654IBS8
    Conserved Domains (1) summary
    pfam00029
    Location:2210
    Connexin

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    34622378..34624965
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)