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GJB2 gap junction protein, beta 2, 26kDa [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_004004 Homo sapiens gap junction protein, beta 2, 26kDa (GJB2), mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10
XM_005266354 PREDICTED: Homo sapiens gap junction protein, beta 2, 26kDa (GJB2), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $399.00 14
XM_005266355 PREDICTED: Homo sapiens gap junction protein, beta 2, 26kDa (GJB2), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $399.00 14
XM_005266356 PREDICTED: Homo sapiens gap junction protein, beta 2, 26kDa (GJB2), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $399.00 14

*Business Day

Related Services

Gene Symbol GJB2
Entrez Gene ID 2706
Full Name gap junction protein, beta 2, 26kDa
Synonyms CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK
General protein information
Preferred Names
gap junction beta-2 protein
Names
gap junction beta-2 protein
connexin 26
gap junction protein beta 2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

13

13q11-q12

Summary This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008].
Disorder

MIM: 121011

Deafness, autosomal recessive 1A, 220290 (3); Deafness, autosomal

mRNA Protein Product Sequence Price Select
NM_004004, 195539329 NP_003995, 42558283 gap junction beta-2 protein ORF Sequence $159.00
XM_005266354, 530402292 XP_005266411, 530402293 gap junction beta-2 protein isoform X1 ORF Sequence $250.00
XM_005266355, 530402294 XP_005266412, 530402295 gap junction beta-2 protein isoform X2 ORF Sequence $250.00
XM_005266356, 530402296 XP_005266413, 530402297 gap junction beta-2 protein isoform X3 ORF Sequence $250.00
WikiPathways
WP536Calcium Regulation in the Cardiac Cell
Reactome
REACT_9411Gap junction trafficking
REACT_9480Gap junction trafficking and regulation
REACT_9392Transport of connexins along the secretory pathway
REACT_9398Oligomerization of connexins into connexons
REACT_9509Gap junction assembly
REACT_11050Transport of connexons to the plasma membrane
REACT_11123Membrane Trafficking
Homo sapiens (human)GJB2NP_003995.2
Pan troglodytes (chimpanzee)GJB2XP_522618.1
Macaca mulatta (Rhesus monkey)GJB2NP_001038200.1
Canis lupus familiaris (dog)GJB2NP_001184077.1
Bos taurus (cattle)GJB2NP_001077106.1
Mus musculus (house mouse)Gjb2NP_032151.1
Rattus norvegicus (Norway rat)Gjb2NP_001004099.1
Gallus gallus (chicken)GJB2NP_001257745.1
Process
IDNameEvidence
GO:0006810transportTAS
GO:0007267cell-cell signalingIEA
GO:0007605sensory perception of soundIEA
GO:0016264gap junction assemblyTAS
GO:0030539male genitalia developmentIEA
GO:0055085transmembrane transportIEA
GO:0061024membrane organizationTAS
Component
IDNameEvidence
GO:0005793endoplasmic reticulum-Golgi intermediate compartmentTAS
GO:0005886plasma membraneTAS
GO:0005922connexon complexIEA
GO:0016021integral component of membraneIEA
GO:0016328lateral plasma membraneIEA
Function
IDNameEvidence
GO:0005243gap junction channel activityIEA
GeneCards GJB2
PDB 3IZ2, 2ZW3, 1XIR, 3IZ1
UniProt H9U1J4, P29033
Vega OTTHUMG00000016513
MIM 121011
Ensembl ENSG00000165474
HGNC 4284
HPRD 00413

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the GJB2 gene?

The GJB2 gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells that are in contact with each other. The size of the gap junction and the types of particles that move through it are determined by the particular connexin proteins that make up the channel. Gap junctions made with connexin 26 transport potassium ions and certain small molecules.

Connexin 26 is found in cells throughout the body, including the inner ear and the skin. Because of its presence in the inner ear, especially the snail-shaped structure called the cochlea, researchers are interested in this protein's role in hearing. Hearing requires the conversion of sound waves to electrical nerve impulses. This conversion involves many processes, including maintaining the proper level of potassium ions in the inner ear. Some studies indicate that channels made with connexin 26 help to maintain the correct level of potassium ions. Other research suggests that connexin 26 is required for the maturation of certain cells in the cochlea. Connexin 26 also plays a role in the growth, maturation, and stability of the outermost layer of skin (the epidermis).

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