Gap junction beta-2 protein (GJB2)

Homo sapiens — UniProt P29033

Gene: GJB2Homo sapiensSwissProt reviewed

About Gap junction beta-2 protein

Gap junction beta-2 protein (GJB2) is a protein from Homo sapiens identified by UniProt accession P29033, 226 residues long. MolForge cross-references it against 0 known binders and 401 disease associations.

Target properties

Protein nameGap junction beta-2 protein
UniProt accessionP29033
GeneGJB2
OrganismHomo sapiens
Length226 residues
Molecular weight—
EC numbers—
Target classUNCLASSIFIED
Subcellular location—
Keywords—

Druggability

Target tractability assessment (Open Targets + pocket analysis). No approved drug

Druggability tierMEDIUM
Druggability score—
Pocket score—
Max clinical phase—

Approved drugs hitting this target (1)

DrugCentral-linked approved drugs that act on this protein.

Disease associations (401)

Diseases linked to this target (Open Targets).

  • palmoplantar keratoderma-deafness syndrome · score 0.81
  • Bart-Pumphrey syndrome · score 0.78
  • keratoderma hereditarium mutilans · score 0.78
  • autosomal dominant keratitis-ichthyosis-hearing loss syndrome · score 0.77
  • autosomal dominant nonsyndromic hearing loss 3A · score 0.77
  • Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome · score 0.74
  • autosomal dominant nonsyndromic hearing loss · score 0.72
  • hearing loss, autosomal recessive · score 0.71
  • deafness · score 0.71
  • hearing loss · score 0.68

3D Structure (1)

Experimental (PDB) and predicted (AlphaFold) structures for this protein.

StructureSourceMethodMean pLDDTResolution (Å)
AF-P29033-F1alphafoldPREDICTED86.18—

Amino-acid sequence (226 residues)

MDWGTLQTIL GGVNKHSTSI GKIWLTVLFI FRIMILVVAA KEVWGDEQAD FVCNTLQPGC KNVCYDHYFP ISHIRLWALQ LIFVSTPALL VAMHVAYRRH EKKRKFIKGE IKSEFKDIEE IKTQKVRIEG SLWWTYTSSI FFRVIFEAAF MYVFYVMYDG FSMQRLVKCN AWPCPNTVDC FVSRPTEKTV FTVFMIAVSG ICILLNVTEL CYLLIRYCSG KSKKPV

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Quick facts

UniProtP29033
GeneGJB2
OrganismHomo sapiens
Length226
Binders0
Diseases401
View on UniProt