GJA1 | OmnibusX

Name	Number of supported studies	Average coverage
endothelial cell	29 studies	31% ± 13%	Explore
endothelial cell of lymphatic vessel	19 studies	42% ± 18%	Explore
astrocyte	17 studies	56% ± 17%	Explore
fibroblast	13 studies	29% ± 19%	Explore
endothelial cell of vascular tree	10 studies	46% ± 16%	Explore
type I pneumocyte	9 studies	37% ± 13%	Explore
capillary endothelial cell	9 studies	26% ± 14%	Explore
connective tissue cell	8 studies	33% ± 22%	Explore
mesothelial cell	8 studies	32% ± 16%	Explore
vein endothelial cell	8 studies	29% ± 16%	Explore
endothelial cell of artery	7 studies	25% ± 7%	Explore
basal cell	6 studies	27% ± 10%	Explore
abnormal cell	3 studies	24% ± 5%	Explore
retinal pigment epithelial cell	3 studies	45% ± 21%	Explore
cardiac muscle cell	3 studies	20% ± 2%	Explore
epithelial cell	3 studies	29% ± 6%	Explore
ependymal cell	3 studies	51% ± 15%	Explore
keratinocyte	3 studies	45% ± 22%	Explore

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of GJA1 at tissue level.

Tissue	GTEx Coverage	GTEx Average TPM	GTEx Number of samples	TCGA Coverage	TCGA Average TPM	TCGA Number of samples
thymus	100%	13729.79	651 / 653	89%	222.99	537 / 605
brain	92%	18015.83	2428 / 2642	95%	586.04	672 / 705
breast	96%	7808.88	442 / 459	82%	340.52	918 / 1118
esophagus	99%	15352.54	1433 / 1445	69%	246.11	127 / 183
lung	91%	7890.56	526 / 578	74%	235.44	855 / 1155
prostate	90%	8559.94	220 / 245	65%	68.56	324 / 502
uterus	81%	8311.13	138 / 170	72%	189.88	331 / 459
adrenal gland	100%	41382.36	258 / 258	53%	120.42	121 / 230
bladder	90%	9160.62	19 / 21	52%	111.23	264 / 504
skin	100%	30990.91	1808 / 1809	22%	35.57	104 / 472
ovary	65%	4585.16	117 / 180	53%	66.05	228 / 430
adipose	98%	11938.90	1179 / 1204	0%	0	0 / 0
kidney	28%	1516.38	25 / 89	63%	125.77	570 / 901
blood vessel	87%	12519.96	1164 / 1335	0%	0	0 / 0
heart	83%	7596.32	713 / 861	0%	0	0 / 0
pancreas	3%	120.29	9 / 328	78%	96.74	138 / 178
tonsil	0%	0	0 / 0	78%	208.43	35 / 45
stomach	36%	3068.57	129 / 359	22%	24.20	62 / 286
intestine	27%	1487.16	259 / 966	20%	23.37	105 / 527
eye	0%	0	0 / 0	9%	5.29	7 / 80
liver	0%	0	0 / 226	5%	7.45	20 / 406
lymph node	0%	0	0 / 0	3%	2.41	1 / 29
muscle	1%	64.80	12 / 803	0%	0	0 / 0
abdomen	0%	0	0 / 0	0%	0	0 / 0
bone marrow	0%	0	0 / 0	0%	0	0 / 0
diaphragm	0%	0	0 / 0	0%	0	0 / 0
gingiva	0%	0	0 / 0	0%	0	0 / 0
nasal cavity	0%	0	0 / 0	0%	0	0 / 0
nasopharynx	0%	0	0 / 0	0%	0	0 / 0
nose	0%	0	0 / 0	0%	0	0 / 0
peripheral blood	0%	0	0 / 929	0%	0	0 / 0
placenta	0%	0	0 / 0	0%	0	0 / 0
spinal column	0%	0	0 / 0	0%	0	0 / 0
spleen	0%	0	0 / 241	0%	0	0 / 0
ureter	0%	0	0 / 0	0%	0	0 / 1

III. Associated gene sets

GO_0071467	Biological process	cellular response to pH
GO_0032277	Biological process	negative regulation of gonadotropin secretion
GO_0042098	Biological process	T cell proliferation
GO_0001947	Biological process	heart looping
GO_0042733	Biological process	embryonic digit morphogenesis
GO_0001764	Biological process	neuron migration
GO_1905332	Biological process	positive regulation of morphogenesis of an epithelium
GO_0007267	Biological process	cell-cell signaling
GO_0140115	Biological process	export across plasma membrane
GO_0120162	Biological process	positive regulation of cold-induced thermogenesis
GO_1904707	Biological process	positive regulation of vascular associated smooth muscle cell proliferation
GO_0045844	Biological process	positive regulation of striated muscle tissue development
GO_0097402	Biological process	neuroblast migration
GO_0003161	Biological process	cardiac conduction system development
GO_0001701	Biological process	in utero embryonic development
GO_0010643	Biological process	cell communication by chemical coupling
GO_0046850	Biological process	regulation of bone remodeling
GO_0010629	Biological process	negative regulation of gene expression
GO_0001649	Biological process	osteoblast differentiation
GO_0002069	Biological process	columnar/cuboidal epithelial cell maturation
GO_0007165	Biological process	signal transduction
GO_0010628	Biological process	positive regulation of gene expression
GO_0000132	Biological process	establishment of mitotic spindle orientation
GO_0043403	Biological process	skeletal muscle tissue regeneration
GO_0060373	Biological process	regulation of ventricular cardiac muscle cell membrane depolarization
GO_0086014	Biological process	atrial cardiac muscle cell action potential
GO_0007512	Biological process	adult heart development
GO_0060348	Biological process	bone development
GO_0030308	Biological process	negative regulation of cell growth
GO_0060307	Biological process	regulation of ventricular cardiac muscle cell membrane repolarization
GO_0003294	Biological process	atrial ventricular junction remodeling
GO_0086064	Biological process	cell communication by electrical coupling involved in cardiac conduction
GO_0034220	Biological process	monoatomic ion transmembrane transport
GO_0042908	Biological process	xenobiotic transport
GO_0046849	Biological process	bone remodeling
GO_1905772	Biological process	positive regulation of mesodermal cell differentiation
GO_0060371	Biological process	regulation of atrial cardiac muscle cell membrane depolarization
GO_0008584	Biological process	male gonad development
GO_1904646	Biological process	cellular response to amyloid-beta
GO_0014047	Biological process	glutamate secretion
GO_0010644	Biological process	cell communication by electrical coupling
GO_0007283	Biological process	spermatogenesis
GO_0034775	Biological process	glutathione transmembrane transport
GO_0007507	Biological process	heart development
GO_0060156	Biological process	milk ejection reflex
GO_0030500	Biological process	regulation of bone mineralization
GO_1901164	Biological process	negative regulation of trophoblast cell migration
GO_2000648	Biological process	positive regulation of stem cell proliferation
GO_0043123	Biological process	positive regulation of canonical NF-kappaB signal transduction
GO_0035633	Biological process	maintenance of blood-brain barrier
GO_0002088	Biological process	lens development in camera-type eye
GO_0008104	Biological process	protein localization
GO_0048514	Biological process	blood vessel morphogenesis
GO_0016264	Biological process	gap junction assembly
GO_0045121	Cellular component	membrane raft
GO_0005789	Cellular component	endoplasmic reticulum membrane
GO_0005916	Cellular component	fascia adherens
GO_0005654	Cellular component	nucleoplasm
GO_0044291	Cellular component	cell-cell contact zone
GO_0005882	Cellular component	intermediate filament
GO_0043231	Cellular component	intracellular membrane-bounded organelle
GO_0030660	Cellular component	Golgi-associated vesicle membrane
GO_0014704	Cellular component	intercalated disc
GO_0005886	Cellular component	plasma membrane
GO_0005739	Cellular component	mitochondrion
GO_0005922	Cellular component	connexin complex
GO_0005794	Cellular component	Golgi apparatus
GO_0000139	Cellular component	Golgi membrane
GO_0016328	Cellular component	lateral plasma membrane
GO_0005737	Cellular component	cytoplasm
GO_0016324	Cellular component	apical plasma membrane
GO_0070160	Cellular component	tight junction
GO_0005925	Cellular component	focal adhesion
GO_0043292	Cellular component	contractile muscle fiber
GO_0005829	Cellular component	cytosol
GO_0005921	Cellular component	gap junction
GO_0030054	Cellular component	cell junction
GO_0048487	Molecular function	beta-tubulin binding
GO_0015562	Molecular function	efflux transmembrane transporter activity
GO_0097110	Molecular function	scaffold protein binding
GO_0034634	Molecular function	glutathione transmembrane transporter activity
GO_0005102	Molecular function	signaling receptor binding
GO_0015075	Molecular function	monoatomic ion transmembrane transporter activity
GO_1990782	Molecular function	protein tyrosine kinase binding
GO_0005243	Molecular function	gap junction channel activity
GO_0005515	Molecular function	protein binding
GO_0055077	Molecular function	gap junction hemi-channel activity
GO_0015631	Molecular function	tubulin binding
GO_0008013	Molecular function	beta-catenin binding
GO_0086075	Molecular function	gap junction channel activity involved in cardiac conduction electrical coupling
GO_1903763	Molecular function	gap junction channel activity involved in cell communication by electrical coupling

Gene name	GJA1
Protein name	Gap junction alpha-1 protein (Connexin-43) (Cx43) (Gap junction 43 kDa heart protein)
Synonyms	GJAL
Description	FUNCTION: Gap junction protein that acts as a regulator of bladder capacity. A 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. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract (By similarity). May play a role in cell growth inhibition through the regulation of NOV expression and localization. Plays an essential role in gap junction communication in the ventricles (By similarity). .
Accessions	P17302 ENST00000282561.4 ENST00000649003.1 ENST00000650427.1 ENST00000647564.1

GJA1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

IV. Literature review