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GJB2 and NGLY1
Data Source:
HPRD
(in vivo)
GJB2
NGLY1
Description
gap junction protein beta 2
N-glycanase 1
Image
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
Protein 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
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
18 interacting genes:
APP
BICRAL
FAF1
GUCD1
NPAS2
NSFL1C
PAX5
PAX6
RAD23A
RAD23B
SRPK2
TCF12
TRAFD1
TRIM54
UBQLN1
UBXN2B
VCP
VMAC
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
6UVR
6UVS
6UVT
2CCQ
2CM0
Enriched GO Terms of Interacting Partners
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