Gap Junction Protein, Beta-2

Alternative Names

  • GJB2
  • Gap Junction Protein, 26-KD
  • Connexin 26
  • CX26
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OMIM Number

121011

NCBI Gene ID

2706

Uniprot ID

P29033

Length

5548 bases

No. of Exons

3

No. of isoforms

1

Protein Name

Gap junction beta-2 protein

Molecular Mass

26215Da

Amino Acid Count

226

Genomic Location

chr13:20187463-20193010

Gene Map Locus
13q12.11

Description

Gap junction beta-2 protein (connexin 26) is a member of the gap junction protein family which is also known as connexins. Gap junctions are reponsible for intercellular communication and they control diffusion of nutrients, ions and metabolites between cells. Several findings support the importance of connexin 26 in auditory transduction. Although the exact involvement of GJB2 in cochlear cells is not known, research has shown that connexin 26 may be involved in the maintenance of potassium ion equilibrium within the cochlear cells, a process important for the conversion of sound waves to electrical impulses. Studies also suggests that connexin 26 may play a role in the maturation and development of cochlear cells.

Mutations in the GJB2 gene have been implicated in nonsyndromic deafness (autosomal dominant and autosomal recessive), Vohwinkel syndrome, palmoplantar keratoderma with deafness, Bart-Pumphrey syndrome, and keratitis-ichthyosis-deafness (KID) syndrome. Connexin 26 mutations account for 10-30% of sporadic non-syndromic deafness.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004004.5:c.109G>AAlgeria; EgyptNC_000013.11:g.20189473C>TBenign, Likely Benign, Likely Pathogenic, PathogenicLikely Pathogenic, PathogenicDeafness, Autosomal Recessive 1ANG_008358.1:g.8503G>A; NM_004004.5:c.109G>A; NP_003995.2:p.Val37Ile7247422417023
NM_004004.5:c.139G>TAlgeria; TunisiaNC_000013.11:g.20189443C>APathogenicPathogenicDeafness, Autosomal Recessive 1ANG_008358.1:g.8533G>T; NM_004004.5:c.139G>T; NP_003995.2:p.Glu47Ter10489439817005
NM_004004.5:c.167delAlgeria; PalestineNC_000013.11:g.20189415delPathogenicLikely PathogenicDeafness, Autosomal Recessive 1ANG_008358.1:g.8561del; NM_004004.5:c.167del; NP_003995.2:p.Leu56ArgfsTer268033894217010
NM_004004.5:c.-22-12C>TUnited Arab EmiratesNC_000013.11:g.20189615G>ABenignBenignNG_008358.1:g.8361C>T; NM_004004.5:c.-22-12C>T; NP_003995.2:p.?957826044717
NM_004004.5:c.229T>CPalestineNC_000013.11:g.20189353A>GPathogenicPathogenicDeafness, Autosomal Recessive 1ANG_008358.1:g.8623T>C; NM_004004.5:c.229T>C; NP_003995.2:p.Trp77Arg10489439717003
NM_004004.5:c.-23+1G>AAlgeria; Egypt; Palest...NC_000013.11:g.20192782C>TLikely Pathogenic, PathogenicLikely Pathogenic, PathogenicDeafness, Autosomal Recessive 1ANG_008358.1:g.5194G>A; NM_004004.5:c.-23+1G>A8033894017029
NM_004004.5:c.235delPalestineNC_000013.11:g.20189349delPathogenicPathogenicDeafness, Autosomal Recessive 1ANG_008358.1:g.8629del; NM_004004.5:c.235del; NP_003995.2:p.Leu79fs8033894317014
NM_004004.5:c.23C>TEgyptNC_000013.11:g.20189559G>AUncertain SignificanceDeafness, Autosomal Recessive 1ANG_008358.1:g.8417C>T; NM_004004.5:c.23C>T; NP_003995.2:p.Thr8Met529500747379889
NM_004004.5:c.35delAlgeria; Egypt; Jordan...NC_000013.11:g.20189552delPathogenicLikely Pathogenic, PathogenicDeafness, Autosomal Recessive 1ANG_008358.1:g.8429del; NM_004004.5:c.35del; NP_003995.2:p.Gly12ValfsTer28033893917004
NM_004004.5:c.438C>TUnited Arab EmiratesNC_000013.11:g.20189144G>AUncertain SignificanceDeafness, Autosomal Recessive 1ANG_008358.1:g.8832C>T; NM_004004.5:c.438C>T; NP_003995.2:p.Phe146=7507954751083190
NM_004004.5:c.457G>AEgyptNC_000013.11:g.20189125C>TBenign, Likely Benign, Likely PathogenicUncertain SignificanceDeafness, Autosomal Recessive 1ANG_008358.1:g.8851G>A; NM_004004.5:c.457G>A; NP_003995.2:p.Val153Ile11103318644754
NM_004004.5:c.506G>AUnited Arab EmiratesNC_000013.11:g.20189076C>TPathogenicPathogenicDeafness, Autosomal Recessive 1ANG_008358.1:g.8900G>A; NM_004004.5:c.506G>A; NP_003995.2:p.Cys169Tyr774518779265481
NM_004004.5:c.617A>GAlgeriaNC_000013.11:g.20188965T>CLikely Pathogenic, PathogenicPathogenicDeafness, Autosomal Recessive 1ANG_008358.1:g.9011A>G; NM_004004.5:c.617A>G; NP_003995.2:p.Asn206Ser11103329444763
NM_004004.5:c.95G>ALebanonchr13:20189487PathogenicPathogenicDeafness, Autosomal Recessive 1ANG_008358.1:g.8489G>A; NM_004004.5:c.95G>A; NP_003995.2:p.Arg32His11103319044766
NM_004004.6:c.-1G>AUnited Arab EmiratesNC_000013.11:g.20189582C>TUncertain SignificanceLikely PathogenicDeafness, Autosomal Recessive 1ANG_008358.1:g.8394G>A; NM_004004.6:c.-1G>A; NP_003995.2:p.?768338285883513
NM_004004.6:c.290dupLebanonNC_000013.11:g.20189292dupPathogenicLikely PathogenicDeafness, Autosomal Recessive 1ANG_008358.1:g.8684dup; NM_004004.6:c.290dup; NP_003995.2:p.Tyr97Ter786204491188821
NM_004004.6:c.334_335delEgyptNC_000013.11:g.20189248_20189249delLikely Pathogenic, PathogenicLikely PathogenicDeafness, Autosomal Recessive 1ANG_008358.1:g.8728_8729del; NM_004004.6:c.334_335del; NP_003995.2:p.Lys112fs756484720189051

Other Reports

Oman

In two separate studies reported by Simsek et al. (2001a and 2001b), 35delG mutation in GJB2 gene wasn't detected among Omani patients with nonsyndromic autosomal recessive deafness (NARD) or control subjects. Simsek et al. (2001a) concluded that 35delG may not be associated with NARD in Oman.

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