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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

*Business Day

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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
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
WikiPathways
WP536Calcium Regulation in the Cardiac Cell
Reactome
REACT_9392Transport of connexins along the secretory pathway
REACT_9411Gap junction trafficking
REACT_9480Gap junction trafficking and regulation
REACT_9509Gap junction assembly
REACT_11123Membrane Trafficking
REACT_9398Oligomerization of connexins into connexons
REACT_11050Transport of connexons to the plasma membrane
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)GJB2XP_425641.3
GeneCards GJB2
PDB 3IZ2, 2ZW3, 1XIR, 3IZ1
UniProt H9U1J4, P29033
MIM 121011
Ensembl ENSG00000165474
HGNC 4284
HPRD 00413

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

General protein information

Preferred Names
gap junction beta-2 protein
Names
gap junction beta-2 protein
connexin 26
gap junction protein beta 2

Interactant



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