GJB2 and PLEKHB2

Number of citations: 50 (PubMedID 32296183)
Data Source: BioGRID (two hybrid)

		GJB2	PLEKHB2
Name		gap junction protein beta 2	pleckstrin homology domain containing B2
Structure
GO Annotations	Cellular Component	Endoplasmic Reticulum-Golgi Intermediate Compartment Plasma Membrane Gap Junction Connexin Complex Membrane Anchoring Junction	Endosome Membrane Recycling Endosome Membrane
	Molecular Function	Gap Junction Channel Activity Calcium Ion Binding Protein Binding Identical Protein Binding Metal Ion Binding Gap Junction Channel Activity Involved In Cell Communication By Electrical Coupling	Protein Binding Phosphatidylinositol-3,4,5-trisphosphate Binding
	Biological Process	Cell Communication Cell-cell Signaling Sensory Perception Of Sound Cell Communication By Electrical Coupling Gap Junction Assembly Transmembrane Transport Gap Junction-mediated Intercellular Transport	Regulation Of Cell Differentiation
Pathways		Oligomerization of connexins into connexons Transport of connexins along the secretory pathway Gap junction assembly Transport of connexons to the plasma membrane	None
Diseases		Deafness, autosomal recessive Keratitis-ichthyosis-deafness syndrome Vohwinkel syndrome, including: Vohwinkel syndrome (VS); Vohwinkel syndrome with ichthyosis Deafness, autosomal dominant Palmoplantar keratoderma with deafness	None
GWAS		Facial emotion recognition (happy faces) ( 28608620 )	No GWAS studies recorded
Interacting Genes		44 interacting genes: AMIGO1 APLNR AQP6 ARL13B CAV1 CD14 CNST CREB3 EBP ERGIC3 FAM209A FFAR2 GJA5 GJA8 GJB1 GJB6 GPR152 GPR42 HSD17B13 KCNK5 KLRC1 LHFPL5 LMNA LRRC4C MFSD6 MS4A6E PEX12 PLEKHB2 SAR1A SHISAL1 SLC10A6 SLC18A1 SLC30A2 SSMEM1 TBXA2R TEX29 TIMMDC1 TLCD4 TM2D2 TMEM106A TMEM237 TMEM31 TMX2 TRHR	51 interacting genes: ATF7IP BHLHE40 C1orf94 CD68 CDA CFTR CLDN19 DAZAP2 DCUN1D1 EMP1 EMP3 EPN1 EPN2 FAM168A FOXD4L3 GGA3 GJB2 GLIS2 HEY1 HEYL HGS HIVEP1 MAP3K1 MED25 MTURN NTAQ1 OTUB2 PIP4P1 PITX1 POGZ PROP1 RHBDD1 RPS27A RUNX1 SFT2D1 SNRPB STAM2 SYNGR1 TAX1BP1 TRARG1 UBA52 UBAC1 UBAP2 UBASH3A UBB UBC UBQLN2 UBXN6 UPF1 YOD1 ZFAND2A
Entrez ID		2706	55041
HPRD ID		00413	15144
Ensembl ID		ENSG00000165474	ENSG00000115762
Uniprot IDs		H9U1J4 P29033	A0A0A0MSE9 A0A0A0MSI4 B4DJB7 Q96CS7
PDB IDs		2ZW3 3IZ1 3IZ2 5ER7 5ERA 5KJ3 5KJG 6UVR 6UVS 6UVT 7QEO 7QEQ 7QER 7QES 7QET 7QEU 7QEV 7QEW 7QEY 8Q9Z 8QA0 8QA1 8QA2 8QA3	3AJ4 3VIA
GO Terms Enriched among Interactors		Membrane Connexin Complex Gap Junction Channel Activity Gap Junction Gap Junction Assembly Protein Binding Plasma Membrane Innate Immune Response Activating Cell Surface Receptor Signaling Pathway Positive Regulation Of Vasoconstriction Connexin Binding Atrioventricular Valve Development Gap Junction-mediated Intercellular Transport Regulation Of Gap Junction Assembly Intercellular Transport G Protein-coupled Receptor Activity Negative Regulation Of Cardiac Muscle Hypertrophy In Response To Stress Cell Surface Pattern Recognition Receptor Signaling Pathway Regulation Of Muscle System Process Transmembrane Transport Regulation Of Vasoconstriction	Protein Tag Activity Endosome Membrane ESCRT-0 Complex Positive Regulation Of Macromolecule Metabolic Process Cytoplasm DNA-binding Transcription Repressor Activity, RNA Polymerase II-specific Macromolecule Catabolic Process Endocytic Vesicle Membrane Post-translational Protein Modification Proteolysis Involved In Protein Catabolic Process Ubiquitin Protein Ligase Binding Autophagy Endosome Transport Via Multivesicular Body Sorting Pathway Ubiquitin Binding Clathrin Vesicle Coat ERAD Pathway Early Endosome Membrane Bleb Assembly Multivesicular Body Sorting Pathway Endosome Protein K11-linked Deubiquitination Negative Regulation Of Vascular Endothelial Growth Factor Receptor Signaling Pathway