Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	GJA1
Previous Symbol	ODDD, GJAL
Symbol Alias	CX43, ODD, ODOD, SDTY3
Approved Name	gap junction protein, alpha 1, 43kDa
Previous Name	gap junction protein, alpha-like, "gap junction protein, alpha 1, 43kDa (connexin 43)"
Name Alias	oculodentodigital dysplasia (syndactyly type III), "connexin 43"
Location	6q22.31
Position	chr6:121435692-121449727, 1
External Links	HGNC: 4274 Entrez Gene: 2697 Ensembl: ENSG00000152661 UCSC: uc003pyr.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Fan, J., 2010	SNP: rs2892767	For gene-based test, P-value = 0.24 in STEP1; P-value = 0.01 in NIMH; P-value = 0.017 in STEP1 and NIMH. nominally significant in NIMH sample and pooled sample, but not survive Bonferroni correction test.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 94)

GO terms by PBA (count: 6)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005764	lysosome	cellular component	IEA	16
GO:0005886	plasma membrane	cellular component	ISS; TAS	360
GO:0005887	integral component of plasma membrane	cellular component	TAS[15709751]	158
GO:0005102	receptor binding	molecular function	IEA	37
GO:0030165	PDZ domain binding	molecular function	IEA	16
GO:0004871	signal transducer activity	molecular function	IDA[1696265]; IMP[12761501]	32

GO terms by database search (count: 88)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0048514	blood vessel morphogenesis	biological process	IEA	3
GO:0010628	positive regulation of gene expression	biological process	IEA	23
GO:0030500	regulation of bone mineralization	biological process	IEA	1
GO:0003104	positive regulation of glomerular filtration	biological process	IEA	1
GO:0007204	positive regulation of cytosolic calcium ion concentration	biological process	IEA	21
GO:0005882	intermediate filament	cellular component	IEA	8
GO:0045669	positive regulation of osteoblast differentiation	biological process	IEA	7
GO:0006915	apoptotic process	biological process	IEA	39
GO:0048812	neuron projection morphogenesis	biological process	IEA	7
GO:0032024	positive regulation of insulin secretion	biological process	IEA	7
GO:0007507	heart development	biological process	TAS[7715640]	20
GO:0030660	Golgi-associated vesicle membrane	cellular component	TAS	3
GO:0003294	atrial ventricular junction remodeling	biological process	IEA	2
GO:0016264	gap junction assembly	biological process	TAS[15709751]	2
GO:0016328	lateral plasma membrane	cellular component	IEA	7
GO:0005922	connexon complex	cellular component	IEA	3
GO:2000810	regulation of tight junction assembly	biological process	IEA	2
GO:0086075	gap junction channel activity involved in cardiac conduction electrical coupling	molecular function	NAS[1696265]	2
GO:0002088	lens development in camera-type eye	biological process	IEA	3
GO:0005794	Golgi apparatus	cellular component	ISS	60
GO:0045844	positive regulation of striated muscle tissue development	biological process	IEA	2
GO:0010232	vascular transport	biological process	IEA	1
GO:0005771	multivesicular body	cellular component	IEA	4
GO:0045732	positive regulation of protein catabolic process	biological process	IEA	4
GO:1903763	gap junction channel activity involved in cell communication by electrical coupling	molecular function	IDA[1696265]	1
GO:0009749	response to glucose	biological process	IEA	8
GO:0086014	atrial cardiac muscle cell action potential	biological process	TAS[23348765]	2
GO:0000139	Golgi membrane	cellular component	TAS	36
GO:0001649	osteoblast differentiation	biological process	IEA	9
GO:0017124	SH3 domain binding	molecular function	IEA	11
GO:0086064	cell communication by electrical coupling involved in cardiac conduction	biological process	NAS[1696265]	7
GO:0006936	muscle contraction	biological process	TAS[7715640]	10
GO:0060156	milk ejection	biological process	IEA	1
GO:0043292	contractile fiber	cellular component	IEA	1
GO:0071253	connexin binding	molecular function	IEA	2
GO:0034405	response to fluid shear stress	biological process	IEA	6
GO:0070062	extracellular vesicular exosome	cellular component	IDA[23376485]	176
GO:0045121	membrane raft	cellular component	ISS	22
GO:0005741	mitochondrial outer membrane	cellular component	IEA	10
GO:0046850	regulation of bone remodeling	biological process	IEA	1
GO:0005789	endoplasmic reticulum membrane	cellular component	TAS	52
GO:0003158	endothelium development	biological process	IEA	2
GO:0010629	negative regulation of gene expression	biological process	IEA	12
GO:0005829	cytosol	cellular component	IEA	223
GO:0005515	protein binding	molecular function	IPI[15709751]	563
GO:0051924	regulation of calcium ion transport	biological process	IEA	8
GO:0016324	apical plasma membrane	cellular component	IEA	24
GO:0043434	response to peptide hormone	biological process	IEA	9
GO:0010644	cell communication by electrical coupling	biological process	IDA[16790700]	1
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	biological process	IMP[12761501]	14
GO:0002544	chronic inflammatory response	biological process	IEA	2
GO:0060373	regulation of ventricular cardiac muscle cell membrane depolarization	biological process	IEA	2
GO:0005925	focal adhesion	cellular component	IDA[21423176]	32
GO:0045909	positive regulation of vasodilation	biological process	IEA	14
GO:2000987	positive regulation of behavioral fear response	biological process	IEA	2
GO:0042733	embryonic digit morphogenesis	biological process	IEA	6
GO:0005769	early endosome	cellular component	IEA	13
GO:0060371	regulation of atrial cardiac muscle cell membrane depolarization	biological process	IEA	2
GO:0005921	gap junction	cellular component	IDA[1696265]; ISS	2
GO:0001701	in utero embryonic development	biological process	IEA	17
GO:0007267	cell-cell signaling	biological process	IDA[1696265]	29
GO:0010643	cell communication by chemical coupling	biological process	IEA	2
GO:0043403	skeletal muscle tissue regeneration	biological process	IEA	2
GO:0061045	negative regulation of wound healing	biological process	IEA	1
GO:0034220	ion transmembrane transport	biological process	IDA[1696265]	50
GO:0010652	positive regulation of cell communication by chemical coupling	biological process	IEA	2
GO:0060044	negative regulation of cardiac muscle cell proliferation	biological process	IEA	1
GO:0051259	protein oligomerization	biological process	IEA	7
GO:0001947	heart looping	biological process	IEA	1
GO:0001937	negative regulation of endothelial cell proliferation	biological process	IEA	3
GO:0061024	membrane organization	biological process	TAS	14
GO:0005916	fascia adherens	cellular component	IEA	4
GO:0014704	intercalated disc	cellular component	IDA[22889254]; ISS	8
GO:0002070	epithelial cell maturation	biological process	IEA	1
GO:0009268	response to pH	biological process	IEA	1
GO:0007512	adult heart development	biological process	IEA	3
GO:0006810	transport	biological process	TAS[1696265]	47
GO:0015867	ATP transport	biological process	IEA	1
GO:2000279	negative regulation of DNA biosynthetic process	biological process	IEA	1
GO:0005243	gap junction channel activity	molecular function	IDA[16790700]	2
GO:0048487	beta-tubulin binding	molecular function	IEA	4
GO:0071260	cellular response to mechanical stimulus	biological process	IEA	12
GO:0097110	scaffold protein binding	molecular function	IEA	5
GO:0007165	signal transduction	biological process	IDA[1696265]	136
GO:0015075	ion transmembrane transporter activity	molecular function	IDA[1696265]	2
GO:0045907	positive regulation of vasoconstriction	biological process	IEA	12
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization	biological process	IEA	3
GO:0001764	neuron migration	biological process	IEA	18

Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04540	Gap junction	15

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa01430	Cell Communication	11

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
gsk3Pathway	Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages	5

Gene related interactors from protein-protein interactions data in HPRD (count: 16)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GJA1	PRKCE	YES	in vivo	10679481
GJA1	MAPK7	NO	in vitro;in vivo	12637502 , 8631994 , 9535909 , 9535905
GJA1	PRKCB	NO	in vitro;in vivo	10871288
GJA1	CSK	NO	in vitro	11035005
GJA1	CSNK1D	YES	in vitro;in vivo	12270943
GJA1	TJP1	NO	in vivo;yeast 2-hybrid	9707407
GJA1	GJA3	NO	in vivo	11739633
GJA1	S100A1	NO	in vitro;in vivo	12804600
GJA1	MAPK1	NO	in vitro;in vivo	12637502 , 8631994 , 9535909 , 9535905
GJA1	PRKCG	NO	in vitro;in vivo	10871288
GJA1	PRKCA	NO	in vitro;in vivo	11273731 , 10871288
GJA1	SRC	NO	in vitro;in vivo	9278444 , 11514593
GJA1	NOV	NO	in vitro;in vivo	15181016
GJA1	SGSM3	NO	in vitro;in vivo;yeast 2-hybrid	15709751
GJA1	MAPK3	NO	in vitro;in vivo	12637502 , 8631994 , 9535909 , 9535905
GJA1	CAV1	NO	in vitro	11980479

Related other genetic factors

Gene related SNPs (count: 4)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2892767	chr6:121428781 - 121428781(1)		1(1/0/0)

LD-proxies (count: 3)

rs_ID	Location	Functional Annotation
rs6901938	chr6:121432728 - 121432728(1)	upstream_gene_variant
rs2071165	chr6:121435063 - 121435063(1)	upstream_gene_variant
rs6917166	chr6:121432378 - 121432378(1)	upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 6	chr6:0-170805979	3 (0/3/0)
6q14-22	chr6:75200000-130000000	1 (0/0/1)
6q22.1-6q22.33	chr6:114200000-130000000	1 (0/1/0)
6q21-22	chr6:105000000-130000000	1 (0/0/1)
6q22	chr6:114200000-130000000	1 (1/0/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr6:121435692..121449727 View in gBrowse