GJB2 and NGLY1

		GJB2	NGLY1
Description		gap junction protein beta 2	N-glycanase 1
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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	Nucleus Cytoplasm Cytosol
	Molecular Function	Gap Junction Channel Activity Calcium Ion Binding Identical Protein Binding Gap Junction Channel Activity Involved In Cell Communication By Electrical Coupling	Peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine Amidase Activity Protein Binding Metal Ion Binding
	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	Protein Folding Protein Quality Control For Misfolded Or Incompletely Synthesized Proteins Glycoprotein Catabolic Process Protein Deglycosylation
Pathways		Oligomerization of connexins into connexons Transport of connexins along the secretory pathway Gap junction assembly Transport of connexons to the plasma membrane	N-glycan trimming in the ER and Calnexin/Calreticulin cycle
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
GWAS		Facial emotion recognition (happy faces) ( 28608620)
Interacting Genes		8 interacting genes: CAV1 CD14 CNST CREB3 GJB1 GJB6 LMNA NGLY1	19 interacting genes: APP FAF1 GJB2 GRM7 GUCD1 LIMD1 MAP3K2 NSFL1C OPA3 PROC RAD23A RAD23B SH3BP1 SRPK2 TRAFD1 TRIM54 UBQLN1 UBXN2B VCP
Entrez ID		2706	55768
HPRD ID		00413	10118
Ensembl ID		ENSG00000165474	ENSG00000151092
Uniprot IDs		H9U1J4 P29033	Q96IV0
PDB IDs		1XIR 2ZW3 3IZ1 3IZ2 5ER7 5ERA 5KJ3 5KJG	2CCQ 2CM0
Enriched GO Terms of Interacting Partners?
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