Browse GJA5

Summary
SymbolGJA5
Namegap junction protein, alpha 5, 40kDa
Aliases CX40; connexin 40; gap junction protein, alpha 5, 40kD (connexin 40); gap junction protein, alpha 5, 40kDa ( ......
Chromosomal Location1q21.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Basic function annotation.
> Subcellular Location, Domain and Function
> Gene Ontology
> KEGG and Reactome Pathway
> Subcellular Location, Domain and Function
 
Subcellular Location Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
Domain PF00029 Connexin
PF16791 Connexin 40 C-terminal domain
Function

One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.

> Gene Ontology
 
Biological Process GO:0001501 skeletal system development
GO:0001508 action potential
GO:0001525 angiogenesis
GO:0001977 renal system process involved in regulation of blood volume
GO:0001990 regulation of systemic arterial blood pressure by hormone
GO:0001991 regulation of systemic arterial blood pressure by circulatory renin-angiotensin
GO:0001999 renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure
GO:0002001 renin secretion into blood stream
GO:0002027 regulation of heart rate
GO:0003007 heart morphogenesis
GO:0003012 muscle system process
GO:0003013 circulatory system process
GO:0003014 renal system process
GO:0003015 heart process
GO:0003018 vascular process in circulatory system
GO:0003044 regulation of systemic arterial blood pressure mediated by a chemical signal
GO:0003071 renal system process involved in regulation of systemic arterial blood pressure
GO:0003073 regulation of systemic arterial blood pressure
GO:0003081 regulation of systemic arterial blood pressure by renin-angiotensin
GO:0003093 regulation of glomerular filtration
GO:0003094 glomerular filtration
GO:0003105 negative regulation of glomerular filtration
GO:0003151 outflow tract morphogenesis
GO:0003158 endothelium development
GO:0003161 cardiac conduction system development
GO:0003170 heart valve development
GO:0003171 atrioventricular valve development
GO:0003174 mitral valve development
GO:0003177 pulmonary valve development
GO:0003179 heart valve morphogenesis
GO:0003184 pulmonary valve morphogenesis
GO:0003188 heart valve formation
GO:0003193 pulmonary valve formation
GO:0003205 cardiac chamber development
GO:0003206 cardiac chamber morphogenesis
GO:0003209 cardiac atrium morphogenesis
GO:0003230 cardiac atrium development
GO:0003231 cardiac ventricle development
GO:0003254 regulation of membrane depolarization
GO:0003279 cardiac septum development
GO:0003281 ventricular septum development
GO:0003283 atrial septum development
GO:0003284 septum primum development
GO:0003294 atrial ventricular junction remodeling
GO:0006813 potassium ion transport
GO:0006936 muscle contraction
GO:0006937 regulation of muscle contraction
GO:0006941 striated muscle contraction
GO:0006942 regulation of striated muscle contraction
GO:0007043 cell-cell junction assembly
GO:0007507 heart development
GO:0008015 blood circulation
GO:0008016 regulation of heart contraction
GO:0008217 regulation of blood pressure
GO:0009306 protein secretion
GO:0010643 cell communication by chemical coupling
GO:0010644 cell communication by electrical coupling
GO:0010645 regulation of cell communication by chemical coupling
GO:0010652 positive regulation of cell communication by chemical coupling
GO:0014706 striated muscle tissue development
GO:0015672 monovalent inorganic cation transport
GO:0016264 gap junction assembly
GO:0019229 regulation of vasoconstriction
GO:0030048 actin filament-based movement
GO:0030326 embryonic limb morphogenesis
GO:0032844 regulation of homeostatic process
GO:0032970 regulation of actin filament-based process
GO:0034329 cell junction assembly
GO:0034330 cell junction organization
GO:0034762 regulation of transmembrane transport
GO:0034765 regulation of ion transmembrane transport
GO:0035050 embryonic heart tube development
GO:0035107 appendage morphogenesis
GO:0035108 limb morphogenesis
GO:0035113 embryonic appendage morphogenesis
GO:0035150 regulation of tube size
GO:0035637 multicellular organismal signaling
GO:0035922 foramen ovale closure
GO:0042310 vasoconstriction
GO:0042311 vasodilation
GO:0042312 regulation of vasodilation
GO:0042391 regulation of membrane potential
GO:0044057 regulation of system process
GO:0044060 regulation of endocrine process
GO:0045216 cell-cell junction organization
GO:0045776 negative regulation of blood pressure
GO:0045907 positive regulation of vasoconstriction
GO:0045909 positive regulation of vasodilation
GO:0048514 blood vessel morphogenesis
GO:0048568 embryonic organ development
GO:0048736 appendage development
GO:0048738 cardiac muscle tissue development
GO:0048771 tissue remodeling
GO:0048844 artery morphogenesis
GO:0050708 regulation of protein secretion
GO:0050878 regulation of body fluid levels
GO:0050880 regulation of blood vessel size
GO:0050886 endocrine process
GO:0051259 protein oligomerization
GO:0051899 membrane depolarization
GO:0055117 regulation of cardiac muscle contraction
GO:0060047 heart contraction
GO:0060048 cardiac muscle contraction
GO:0060173 limb development
GO:0060306 regulation of membrane repolarization
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization
GO:0060371 regulation of atrial cardiac muscle cell membrane depolarization
GO:0060373 regulation of ventricular cardiac muscle cell membrane depolarization
GO:0060411 cardiac septum morphogenesis
GO:0060412 ventricular septum morphogenesis
GO:0060413 atrial septum morphogenesis
GO:0060537 muscle tissue development
GO:0060840 artery development
GO:0061337 cardiac conduction
GO:0070252 actin-mediated cell contraction
GO:0086001 cardiac muscle cell action potential
GO:0086002 cardiac muscle cell action potential involved in contraction
GO:0086003 cardiac muscle cell contraction
GO:0086004 regulation of cardiac muscle cell contraction
GO:0086005 ventricular cardiac muscle cell action potential
GO:0086009 membrane repolarization
GO:0086010 membrane depolarization during action potential
GO:0086012 membrane depolarization during cardiac muscle cell action potential
GO:0086014 atrial cardiac muscle cell action potential
GO:0086015 SA node cell action potential
GO:0086016 AV node cell action potential
GO:0086017 Purkinje myocyte action potential
GO:0086018 SA node cell to atrial cardiac muscle cell signalling
GO:0086019 cell-cell signaling involved in cardiac conduction
GO:0086026 atrial cardiac muscle cell to AV node cell signaling
GO:0086027 AV node cell to bundle of His cell signaling
GO:0086028 bundle of His cell to Purkinje myocyte signaling
GO:0086029 Purkinje myocyte to ventricular cardiac muscle cell signaling
GO:0086043 bundle of His cell action potential
GO:0086053 AV node cell to bundle of His cell communication by electrical coupling
GO:0086054 bundle of His cell to Purkinje myocyte communication by electrical coupling
GO:0086064 cell communication by electrical coupling involved in cardiac conduction
GO:0086065 cell communication involved in cardiac conduction
GO:0086066 atrial cardiac muscle cell to AV node cell communication
GO:0086067 AV node cell to bundle of His cell communication
GO:0086068 Purkinje myocyte to ventricular cardiac muscle cell communication
GO:0086069 bundle of His cell to Purkinje myocyte communication
GO:0086070 SA node cell to atrial cardiac muscle cell communication
GO:0086091 regulation of heart rate by cardiac conduction
GO:0090066 regulation of anatomical structure size
GO:0090257 regulation of muscle system process
GO:0097205 renal filtration
GO:0098801 regulation of renal system process
GO:0098900 regulation of action potential
GO:0098901 regulation of cardiac muscle cell action potential
GO:0098902 regulation of membrane depolarization during action potential
GO:0098904 regulation of AV node cell action potential
GO:0098905 regulation of bundle of His cell action potential
GO:0098906 regulation of Purkinje myocyte action potential
GO:0098910 regulation of atrial cardiac muscle cell action potential
GO:0099622 cardiac muscle cell membrane repolarization
GO:0099623 regulation of cardiac muscle cell membrane repolarization
GO:0099625 ventricular cardiac muscle cell membrane repolarization
GO:1900133 regulation of renin secretion into blood stream
GO:1900825 regulation of membrane depolarization during cardiac muscle cell action potential
GO:1903115 regulation of actin filament-based movement
GO:1903522 regulation of blood circulation
GO:1903524 positive regulation of blood circulation
GO:1903779 regulation of cardiac conduction
GO:1905314 semi-lunar valve development
GO:1990029 vasomotion
GO:2000021 regulation of ion homeostasis
Molecular Function GO:0005243 gap junction channel activity
GO:0015267 channel activity
GO:0022803 passive transmembrane transporter activity
GO:0022829 wide pore channel activity
GO:0055077 gap junction hemi-channel activity
GO:0071253 connexin binding
GO:0086075 gap junction channel activity involved in cardiac conduction electrical coupling
GO:0086077 gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling
GO:1903763 gap junction channel activity involved in cell communication by electrical coupling
Cellular Component GO:0005921 gap junction
GO:0005922 connexin complex
GO:0014704 intercalated disc
GO:0044291 cell-cell contact zone
> KEGG and Reactome Pathway
 
KEGG -
Reactome R-HSA-190861: Gap junction assembly
R-HSA-190828: Gap junction trafficking
R-HSA-157858: Gap junction trafficking and regulation
R-HSA-199991: Membrane Trafficking
R-HSA-5653656: Vesicle-mediated transport
Summary
SymbolGJA5
Namegap junction protein, alpha 5, 40kDa
Aliases CX40; connexin 40; gap junction protein, alpha 5, 40kD (connexin 40); gap junction protein, alpha 5, 40kDa ( ......
Chromosomal Location1q21.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Literatures that report relations between GJA5 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.
> Text Mining
 

There is no record.
Summary
SymbolGJA5
Namegap junction protein, alpha 5, 40kDa
Aliases CX40; connexin 40; gap junction protein, alpha 5, 40kD (connexin 40); gap junction protein, alpha 5, 40kDa ( ......
Chromosomal Location1q21.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.
> High-throughput Screening
  Statistical results of GJA5 in screening data sets for detecting immune reponses.
PMID Screening System Cancer Type Cell Line Data Set Statistical Results Relation to immunity
29301958CRISPR-Cas9 melanomaB16F10Pmel-1 T cell NA/NSNA/NS
29301958CRISPR-Cas9 melanomaB16F10OT-1 T cell NA/NSNA/NS
28783722CRISPR-Cas9 melanomaMel6242CT-CRISPR NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX+Anti-PD1 NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX NA/NSNA/NS
25691366RNAiBreast cancerMCF7Luc-CTL assay NA/NSNA/NS
24476824shRNAmelanomaB16Primary screen NA/NSNA/NS
24476824shRNAmelanomaB16Secondary screen NA/NSNA/NS
Summary
SymbolGJA5
Namegap junction protein, alpha 5, 40kDa
Aliases CX40; connexin 40; gap junction protein, alpha 5, 40kD (connexin 40); gap junction protein, alpha 5, 40kDa ( ......
Chromosomal Location1q21.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets.
> Expression difference between responders and non-responders
> Mutation difference between responders and non-responders
> Expression difference between responders and non-responders
 
Points in the above scatter plot represent the expression difference of GJA5 in various data sets.
No PMID Cancer type Group Drug # Res # NRes Log2 (Fold Change) P value Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)1412-0.8640.00927
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)65-0.7550.378
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)87-0.9450.17
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 916-0.290.432
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 59-0.4840.699
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 47-0.0550.966
729033130MelanomaallAnti-PD-1 (nivolumab) 2623-0.0140.978
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 1511-0.0050.996
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 1112-0.0090.993
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 4801
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 2801
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 68230-0.1150.56
> Mutation difference between responders and non-responders
 
Points in the above scatter plot represent the mutation difference of GJA5 in various data sets.
No PMID Cancer type Group Drug # Res # NRes % Mut/Res % Mut/NRes % Diff (R vs NR) Pval Anno
125765070Non-small cell lung cancer (NSCLC)allAnti-PD-1 (pembrolizumab) 14170001
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 1030001
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 4140001
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 27733.71.42.30.469
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 0140001
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 27593.71.720.532
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)21174.85.9-1.11
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)860001
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)13117.79.1-1.41
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 9160001
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 590001
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470001
1329033130MelanomaallAnti-PD-1 (nivolumab) 38275.305.30.507
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 22134.504.51
1529033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 16146.206.21
1629301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 11130001
1729301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 610001
1829301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 5120001
Summary
SymbolGJA5
Namegap junction protein, alpha 5, 40kDa
Aliases CX40; connexin 40; gap junction protein, alpha 5, 40kD (connexin 40); gap junction protein, alpha 5, 40kDa ( ......
Chromosomal Location1q21.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of GJA5. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.
> Lymphocyte
 
Summary
SymbolGJA5
Namegap junction protein, alpha 5, 40kDa
Aliases CX40; connexin 40; gap junction protein, alpha 5, 40kD (connexin 40); gap junction protein, alpha 5, 40kDa ( ......
Chromosomal Location1q21.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of GJA5. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by GJA5.
> Immunoinhibitor
> Immunostimulator
> MHC molecule
> Immunoinhibitor
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolGJA5
Namegap junction protein, alpha 5, 40kDa
Aliases CX40; connexin 40; gap junction protein, alpha 5, 40kD (connexin 40); gap junction protein, alpha 5, 40kDa ( ......
Chromosomal Location1q21.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of GJA5. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene.
> Chemokine
> Receptor
> Chemokine
 
> Receptor
 
Summary
SymbolGJA5
Namegap junction protein, alpha 5, 40kDa
Aliases CX40; connexin 40; gap junction protein, alpha 5, 40kD (connexin 40); gap junction protein, alpha 5, 40kDa ( ......
Chromosomal Location1q21.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of GJA5 expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolGJA5
Namegap junction protein, alpha 5, 40kDa
Aliases CX40; connexin 40; gap junction protein, alpha 5, 40kD (connexin 40); gap junction protein, alpha 5, 40kDa ( ......
Chromosomal Location1q21.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between GJA5 and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolGJA5
Namegap junction protein, alpha 5, 40kDa
Aliases CX40; connexin 40; gap junction protein, alpha 5, 40kD (connexin 40); gap junction protein, alpha 5, 40kDa ( ......
Chromosomal Location1q21.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting GJA5 collected from DrugBank database.
> Drugs from DrugBank database
 

There is no record.