GJB2 and TIMMDC1

Number of citations of the paper that reports this interaction (PubMedID 32296183)
50

Data Source:
BioGRID (two hybrid)

		GJB2	TIMMDC1
Description		gap junction protein beta 2	translocase of inner mitochondrial membrane domain containing 1
Image			No pdb structure
GO Annotations	Cellular Component	Endoplasmic Reticulum-Golgi Intermediate Compartment Plasma Membrane Gap Junction Connexin Complex Membrane Anchoring Junction	Nucleoplasm Mitochondrion Mitochondrial Inner Membrane Membrane Mitochondrial 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
	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	Mitochondrial Respiratory Chain Complex I Assembly
Pathways		Oligomerization of connexins into connexons Transport of connexins along the secretory pathway Gap junction assembly Transport of connexons to the plasma membrane	Complex I biogenesis
Drugs
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
GWAS		Facial emotion recognition (happy faces) ( 28608620)	Autoimmune thyroid disease ( 32581359) Juvenile idiopathic arthritis (oligoarticular or rheumatoid factor-negative polyarticular) ( 23603761) Medication use (thyroid preparations) ( 31015401) Multiple sclerosis ( 24076602 31604244) Primary biliary cholangitis ( 30643196) Primary biliary cirrhosis ( 22961000) Systemic lupus erythematosus ( 28714469 33272962) Systemic sclerosis ( 31672989)
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	82 interacting genes: AGR3 ANKRD46 APOC2 APOC4 APOL2 APOL3 APP ARL6IP6 ARLN ATP6AP2 BCAP31 C14orf180 C3orf52 C5orf46 CCL4 CDS2 CMTM2 CREB3L1 CYB561D2 CYP4F12 DCBLD2 DIABLO DRAM1 EPGN FAM20B FAM210B FATE1 FXYD3 GJB2 GPR151 GPR152 GPX8 HGS HSD17B13 IFNA2 IGFBP5 KIR2DL4 LHFPL5 MARCHF5 NDUFB11 NINJ1 ORMDL1 ORMDL2 PEX16 PEX5 PIGF PTPN1 PTPRN REEP6 RNF24 SCAMP5 SCD SERF1A SERF1B SERP1 SERP2 SLC35E4 SLC35F6 SLC61A1 SLC71A2 SMO ST6GAL2 STX12 STX6 TMEM144 TMEM14B TMEM176A TMEM203 TMEM239 TMEM31 TMEM54 TMEM65 TMEM86A TVP23B UBIAD1 UNC50 UNC93A VAPB VMA12 YIF1A YIPF1 YIPF4
Entrez ID		2706	51300
HPRD ID		00413	12817
Ensembl ID		ENSG00000165474	ENSG00000113845
Uniprot IDs		H9U1J4 P29033	C9JU35 Q9NPL8
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
Enriched GO Terms of Interacting Partners?		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	Membrane Endoplasmic Reticulum Membrane Endoplasmic Reticulum Protein Binding Lipoprotein Metabolic Process Endoplasmic Reticulum Unfolded Protein Response Golgi Membrane Response To Unfolded Protein Very-low-density Lipoprotein Particle Golgi Apparatus Response To Endoplasmic Reticulum Stress High-density Lipoprotein Particle Chemical Homeostasis Intermediate-density Lipoprotein Particle Intracellular Sphingolipid Homeostasis Negative Regulation Of Ceramide Biosynthetic Process Amyloid Fibril Formation Protein Import Into Peroxisome Membrane Negative Regulation Of Sphingolipid Biosynthetic Process Menaquinone Metabolic Process Synaptic Vesicle Membrane Serine Palmitoyltransferase Complex Endoplasmic Reticulum-Golgi Intermediate Compartment
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