GJB2 and CAV1

Data Source:
BioGRID (affinity chromatography technology)
HPRD (in vivo, in vitro)

		GJB2	CAV1
Description		gap junction protein beta 2	caveolin 1
Image			No pdb structure
GO Annotations	Cellular Component	Endoplasmic Reticulum-Golgi Intermediate Compartment Cytosol Plasma Membrane Integral Component Of Plasma Membrane Gap Junction Connexin Complex Lateral Plasma Membrane Cell Body Perinuclear Region Of Cytoplasm Astrocyte Projection	Golgi Membrane Acrosomal Membrane Caveolar Macromolecular Signaling Complex Endosome Endoplasmic Reticulum Endoplasmic Reticulum Membrane Golgi Apparatus Lipid Droplet Plasma Membrane Integral Component Of Plasma Membrane Caveola Focal Adhesion Cilium Cell Cortex Membrane Endocytic Vesicle Membrane Cytoplasmic Vesicle Early Endosome Membrane Protein-containing Complex Sarcolemma Membrane Raft Perinuclear Region Of Cytoplasm
	Molecular Function	Gap Junction Channel Activity Calcium Ion Binding Protein Binding Identical Protein Binding Gap Junction Channel Activity Involved In Cell Communication By Electrical Coupling	Signaling Receptor Binding Patched Binding Protein Binding Cholesterol Binding Peptidase Activator Activity Enzyme Binding Protein Kinase Binding Protein-macromolecule Adaptor Activity Small GTPase Binding Identical Protein Binding Ion Channel Binding Protein-containing Complex Binding Protein Heterodimerization Activity Nitric-oxide Synthase Binding ATPase Binding Molecular Adaptor Activity Inward Rectifier Potassium Channel Inhibitor Activity
	Biological Process	Response To Ischemia Cell-cell Signaling Aging Sensory Perception Of Sound Cell Communication By Electrical Coupling Gap Junction Assembly Response To Estradiol Response To Lipopolysaccharide Response To Retinoic Acid Response To Progesterone Cellular Response To Oxidative Stress Response To Human Chorionic Gonadotropin Response To Antibiotic Decidualization Inner Ear Development Transmembrane Transport Cellular Response To Glucagon Stimulus Cellular Response To Dexamethasone Stimulus Epididymis Development Gap Junction-mediated Intercellular Transport	Negative Regulation Of Transcription By RNA Polymerase II Inactivation Of MAPK Activity Angiogenesis Vasculogenesis Response To Hypoxia Negative Regulation Of Endothelial Cell Proliferation Negative Regulation Of Cytokine-mediated Signaling Pathway Response To Ischemia Regulation Of The Force Of Heart Contraction By Chemical Signal Triglyceride Metabolic Process Calcium Ion Transport Cellular Calcium Ion Homeostasis Regulation Of Smooth Muscle Contraction Skeletal Muscle Tissue Development Lactation Protein Localization Response To Bacterium Positive Regulation Of Calcium Ion Transport Into Cytosol Posttranscriptional Regulation Of Gene Expression Positive Regulation Of Gene Expression Positive Regulation Of Cholesterol Efflux Positive Regulation Of Peptidase Activity Protein Transport Vesicle Organization Receptor-mediated Endocytosis Of Virus By Host Cell Regulation Of Fatty Acid Metabolic Process Lipid Storage Cell Differentiation Regulation Of Blood Coagulation Cholesterol Transport Positive Regulation Of Cell Migration Negative Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway Negative Regulation Of Epithelial Cell Differentiation Mammary Gland Development T Cell Costimulation Negative Regulation Of Protein Ubiquitination Positive Regulation Of Protein Ubiquitination Receptor Internalization Negative Regulation Of Protein Binding Positive Regulation Of Protein Binding Maintenance Of Protein Location In Cell Response To Progesterone Negative Regulation Of Peptidyl-serine Phosphorylation Positive Regulation Of Peptidyl-serine Phosphorylation Nitric Oxide Homeostasis Positive Regulation Of Toll-like Receptor 3 Signaling Pathway Insulin Receptor Internalization Vasoconstriction Negative Regulation Of Tyrosine Phosphorylation Of STAT Protein Cholesterol Homeostasis Positive Regulation Of Catalytic Activity Negative Regulation Of MAPK Cascade Response To Estrogen Protein Localization To Plasma Membrane Raft Negative Regulation Of Nitric Oxide Biosynthetic Process Positive Regulation Of Vasoconstriction Negative Regulation Of Receptor Signaling Pathway Via JAK-STAT Negative Regulation Of Pinocytosis Leukocyte Migration Regulation Of Nitric-oxide Synthase Activity Negative Regulation Of Nitric-oxide Synthase Activity Positive Regulation Of NF-kappaB Transcription Factor Activity Regulation Of Cytosolic Calcium Ion Concentration Response To Calcium Ion Membrane Depolarization Regulation Of Peptidase Activity Calcium Ion Homeostasis Mammary Gland Involution Positive Regulation Of Cell Adhesion Molecule Production Negative Regulation Of Necroptotic Process Negative Regulation Of Protein Tyrosine Kinase Activity Caveola Assembly Cellular Response To Exogenous DsRNA Cellular Response To Peptide Hormone Stimulus Cellular Response To Hyperoxia Cellular Response To Transforming Growth Factor Beta Stimulus Basement Membrane Organization Caveolin-mediated Endocytosis Regulation Of Heart Rate By Cardiac Conduction Angiotensin-activated Signaling Pathway Involved In Heart Process Negative Regulation Of Canonical Wnt Signaling Pathway Positive Regulation Of Canonical Wnt Signaling Pathway Apoptotic Signaling Pathway Regulation Of Membrane Repolarization During Action Potential Regulation Of Cardiac Muscle Cell Action Potential Involved In Regulation Of Contraction Regulation Of Ventricular Cardiac Muscle Cell Action Potential Positive Regulation Of Cold-induced Thermogenesis Regulation Of Ruffle Assembly Negative Regulation Of Peptidyl-tyrosine Autophosphorylation Negative Regulation Of Potassium Ion Transmembrane Transport Regulation Of Cell Communication By Electrical Coupling Involved In Cardiac Conduction Positive Regulation Of ER-associated Ubiquitin-dependent Protein Catabolic Process Protein Localization To Basolateral Plasma Membrane Positive Regulation Of Gap Junction Assembly Negative Regulation Of Inward Rectifier Potassium Channel Activity Beta-catenin Destruction Complex Disassembly Receptor Internalization Involved In Canonical Wnt Signaling Pathway Regulation Of Entry Of Bacterium Into Host Cell Negative Regulation Of Anoikis Positive Regulation Of Extrinsic Apoptotic Signaling Pathway Positive Regulation Of Intrinsic Apoptotic Signaling Pathway
Pathways		Oligomerization of connexins into connexons Transport of connexins along the secretory pathway Gap junction assembly Transport of connexons to the plasma membrane	Triglyceride catabolism eNOS activation NOSTRIN mediated eNOS trafficking Basigin interactions Disassembly of the destruction complex and recruitment of AXIN to the membrane VEGFR2 mediated vascular permeability Extra-nuclear estrogen signaling FOXO-mediated transcription of cell cycle genes
Drugs
Diseases		Keratitis-ichthyosis-deafness syndrome Palmoplantar keratoderma with deafness Deafness, autosomal dominant Deafness, autosomal recessive Vohwinkel syndrome, including: Vohwinkel syndrome (VS); Vohwinkel syndrome with ichthyosis	Congenital generalized lipodystrophy (CGL)
GWAS		Facial emotion recognition (happy faces) ( 28608620)	Atrial fibrillation ( 28416822 30061737 29892015 22544366) Electrocardiogram morphology (amplitude at temporal datapoints) ( 32916098) Electrocardiographic traits ( 32602732 20062063 25055868) Glaucoma ( 30054594) Glaucoma (primary open-angle) ( 29891935 25173105 20835238) Heart rate increase in response to exercise ( 29497042) Heart rate response to recovery post exercise (10 sec) ( 29497042) Heart rate response to recovery post exercise (20 sec) ( 29497042) Heart rate response to recovery post exercise (30 sec) ( 29497042) Heart rate response to recovery post exercise (40 sec) ( 29497042) Heart rate response to recovery post exercise (50 sec) ( 29497042) High light scatter reticulocyte count ( 32888494 27863252) High light scatter reticulocyte percentage of red cells ( 32888494 27863252) Immature fraction of reticulocytes ( 32888494 27863252) Intraocular pressure ( 29617998 25173106 28073927 29235454) Ischemic stroke (cardioembolic) ( 29531354) Lymphocyte counts ( 32888494) Lymphocyte percentage of white cells ( 32888494) Monocyte count ( 32888494) Monocyte percentage of white cells ( 32888494) P wave duration ( 28794112) Platelet distribution width ( 32888494) PR interval ( 30679814 29127183 30046033 32439900 20062060 25035420 23139255) PR segment ( 24850809) Proportion of activated microglia (inferior temporal cortex) ( 30679421) QRS duration ( 30012220) QT interval ( 24952745 29874175) Refractive error ( 32231278) Reticulocyte count ( 32888494 27863252) Reticulocyte fraction of red cells ( 32888494 27863252)
Interacting Genes		43 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 SLC18A1 SLC30A2 SSMEM1 TBXA2R TEX29 TIMMDC1 TLCD4 TM2D2 TMEM106A TMEM237 TMEM31 TMX2 TRHR	84 interacting genes: ABCB1 ABL1 AKAP1 APP AR BMX BSG BST1 BTK CAV2 CD40 CSK CSNK2A1 CSNK2A2 DAG1 DNM1 EDNRB EGFR ERBB2 ESR1 FLNA FLOT2 FYN GJA1 GJA3 GJB2 GLP1R GNAI2 GRB7 GRK1 GRK2 GRK5 HRAS HTR1F IGF1R IGFBP3 ILK INSR IRS1 KCNA3 KDR LATS1 LRP1 MALL MAPK1 MAPK3 MMP14 NEU3 NGFR NOS2 NOS3 NTRK1 PDGFRA PDGFRB PLD1 PLD2 PPP1CA PPP2CA PRNP PTEN PTGS2 PTPN1 PTPN11 PTPN6 PTPRF RAC1 RCVRN RHOA RHOC S1PR1 SCP2 SNCA SOS1 SRC STOML3 STRN STRN4 TEK TGFBR1 TNFRSF1B TRAF2 TRAF6 TRPC1 VAV2
Entrez ID		2706	857
HPRD ID		00413	03028
Ensembl ID		ENSG00000165474	ENSG00000105974
Uniprot IDs		H9U1J4 P29033	A0A024R757 A9XTE5 Q03135 Q2TNI1 Q59E85 Q7Z4F3
PDB IDs		1XIR 2ZW3 3IZ1 3IZ2 5ER7 5ERA 5KJ3 5KJG 6UVR 6UVS 6UVT
Enriched GO Terms of Interacting Partners?
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