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GJB1 and GJB2
Data Source:
BioGRID
(two hybrid)
HPRD
(in vivo)
GJB1
GJB2
Description
gap junction protein beta 1
gap junction protein beta 2
Image
GO Annotations
Cellular Component
Endoplasmic Reticulum Membrane
Connexin Complex
Integral Component Of Membrane
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
Molecular Function
Gap Junction Channel Activity
Protein Binding
Gap Junction Channel Activity
Calcium Ion Binding
Protein Binding
Identical Protein Binding
Gap Junction Channel Activity Involved In Cell Communication By Electrical Coupling
Biological Process
Cell-cell Signaling
Nervous System Development
Gap Junction Assembly
Transmembrane Transport
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
Pathways
Oligomerization of connexins into connexons
Oligomerization of connexins into connexons
Transport of connexins along the secretory pathway
Gap junction assembly
Oligomerization of connexins into connexons
Transport of connexins along the secretory pathway
Gap junction assembly
Transport of connexons to the plasma membrane
Drugs
Diseases
Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
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
57 interacting genes:
APOL3
APP
BMP10
C1GALT1
C2CD2L
C3orf52
CALM1
CD37
CD79A
CDIPT
CLEC7A
CMTM3
CMTM5
CNST
COMT
CTXN3
CXCL9
EFNA5
EGFR
EMP3
EPHA1
GJB2
GLP1R
GPR25
IER3IP1
ITGAM
LAT
LHFPL2
MAL
MAL2
MFF
MS4A13
MST1R
NDUFB11
NIPAL4
PRKACA
PRKCA
PTPN2
PTPN9
RTP2
SCD
SERTM1
SLC12A7
SRC
STX8
TEX264
TF
TM4SF4
TMEM120B
TMEM14C
TMEM19
TMEM218
TMEM98
UPK1B
VEGFA
VKORC1
YIPF6
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
Entrez ID
2705
2706
HPRD ID
02367
00413
Ensembl ID
ENSG00000169562
ENSG00000165474
Uniprot IDs
A0A654ICJ7
P08034
H9U1J4
P29033
PDB IDs
1TXH
5KK9
1XIR
2ZW3
3IZ1
3IZ2
5ER7
5ERA
5KJ3
5KJG
6UVR
6UVS
6UVT
Enriched GO Terms of Interacting Partners
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Tagcloud (Difference)
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Tagcloud (Intersection)
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