SZGR2

Summary ?

GeneID	2697
Symbol	GJA1
Synonyms	AVSD3\|CMDR\|CX43\|EKVP\|GJAL\|HLHS1\|HSS\|ODDD\|PPKCA
Description	gap junction protein alpha 1
Reference	MIM:121014\|HGNC:HGNC:4274\|Ensembl:ENSG00000152661\|HPRD:00414\|Vega:OTTHUMG00000015479
Gene type	protein-coding
Map location	6q22.31
Pascal p-value	0.597
Sherlock p-value	0.867
Fetal beta	-2.339
DMG	1 (# studies)
eGene	Meta
Support	ION BALANCE G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS CompositeSet

Gene in Data Sources

Gene set name	Method of gene set	Description	Info
CV:PGCnp	Genome-wide Association Study	GWAS
DMG:Wockner_2014	Genome-wide DNA methylation analysis	This dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24).	1
Network	Shortest path distance of core genes in the Human protein-protein interaction network	Contribution to shortest path in PPI network: 0.0033

Section I. Genetics and epigenetics annotation

Differentially methylated gene

Probe	Chromosome	Position	Nearest gene	P (dis)	Beta (dis)	FDR (dis)	Study
cg04652961	6	121758242	GJA1	2.041E-4	-0.389	0.035	DMG:Wockner_2014

Section II. Transcriptome annotation

General gene expression (GTEx)

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions

Section III. Gene Ontology annotation

Molecular function	GO term	Evidence	Neuro keywords	PubMed ID
GO:0004871	signal transducer activity	IMP		12761501
GO:0005515	protein binding	ISS		-
GO:0015075	ion transmembrane transporter activity	TAS		1696265
Biological process	GO term	Evidence	Neuro keywords	PubMed ID
GO:0007267	cell-cell signaling	TAS		7715640
GO:0007507	heart development	TAS		7715640
GO:0007605	sensory perception of sound	IEA		-
GO:0006810	transport	TAS		1696265
GO:0006936	muscle contraction	TAS		7715640
GO:0016264	gap junction assembly	TAS		15709751
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB cascade	IMP		12761501
Cellular component	GO term	Evidence	Neuro keywords	PubMed ID
GO:0005922	connexon complex	TAS		1850831
GO:0005886	plasma membrane	EXP		11124251 \|12506110 \|12907686
GO:0005886	plasma membrane	IEA		-
GO:0005887	integral to plasma membrane	TAS		15709751
GO:0030054	cell junction	IEA		-
GO:0030660	Golgi-associated vesicle membrane	EXP		12149451

Section IV. Protein-protein interaction annotation

Interactors	Aliases B	Official full name B	Experimental	Source	PubMed ID
CAV1	CAV \| MSTP085 \| VIP21	caveolin 1, caveolae protein, 22kDa	-	HPRD,BioGRID	11980479
CSNK1D	HCKID	casein kinase 1, delta	-	HPRD,BioGRID	12270943
GJA1	CX43 \| DFNB38 \| GJAL \| ODDD	gap junction protein, alpha 1, 43kDa	Co-fractionation	BioGRID	11739633
GJA3	CX46 \| CZP3	gap junction protein, alpha 3, 46kDa	-	HPRD,BioGRID	11739633
GJA5	CX40 \| MGC11185	gap junction protein, alpha 5, 40kDa	-	HPRD,BioGRID	11557558
MAPK7	BMK1 \| ERK4 \| ERK5 \| PRKM7	mitogen-activated protein kinase 7	-	HPRD,BioGRID	12637502
PRKCA	AAG6 \| MGC129900 \| MGC129901 \| PKC-alpha \| PKCA \| PRKACA	protein kinase C, alpha	-	HPRD,BioGRID	11273731
PRKCE	MGC125656 \| MGC125657 \| PKCE \| nPKC-epsilon	protein kinase C, epsilon	-	HPRD,BioGRID	10679481
S100A1	S100 \| S100-alpha \| S100A	S100 calcium binding protein A1	-	HPRD,BioGRID	12804600
SRC	ASV \| SRC1 \| c-SRC \| p60-Src	v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian)	-	HPRD	9278444
SRC	ASV \| SRC1 \| c-SRC \| p60-Src	v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian)	Cx43 interacts with v-Src. This interaction was modelled on a demonstrated interaction between rat Cx43 and human v-Src.	BIND	9278444
TJP1	DKFZp686M05161 \| MGC133289 \| ZO-1	tight junction protein 1 (zona occludens 1)	-	HPRD,BioGRID	9707407

Section V. Pathway annotation

Pathway name	Pathway size	# SZGR 2.0 genes in pathway	Info
KEGG GAP JUNCTION	90	68	All SZGR 2.0 genes in this pathway
KEGG ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY ARVC	76	59	All SZGR 2.0 genes in this pathway
BIOCARTA GSK3 PATHWAY	27	26	All SZGR 2.0 genes in this pathway
PID FRA PATHWAY	37	28	All SZGR 2.0 genes in this pathway
PID AP1 PATHWAY	70	60	All SZGR 2.0 genes in this pathway
PID NCADHERIN PATHWAY	33	32	All SZGR 2.0 genes in this pathway
REACTOME GAP JUNCTION DEGRADATION	10	8	All SZGR 2.0 genes in this pathway
REACTOME MEMBRANE TRAFFICKING	129	74	All SZGR 2.0 genes in this pathway
REACTOME GAP JUNCTION TRAFFICKING	27	19	All SZGR 2.0 genes in this pathway
REACTOME GAP JUNCTION ASSEMBLY	18	12	All SZGR 2.0 genes in this pathway
PICCALUGA ANGIOIMMUNOBLASTIC LYMPHOMA UP	205	140	All SZGR 2.0 genes in this pathway
LIU PROSTATE CANCER DN	481	290	All SZGR 2.0 genes in this pathway
SENGUPTA NASOPHARYNGEAL CARCINOMA UP	294	178	All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL DN	460	312	All SZGR 2.0 genes in this pathway
JAEGER METASTASIS DN	258	141	All SZGR 2.0 genes in this pathway
TAKEDA TARGETS OF NUP98 HOXA9 FUSION 8D UP	157	91	All SZGR 2.0 genes in this pathway
PAPASPYRIDONOS UNSTABLE ATEROSCLEROTIC PLAQUE DN	43	29	All SZGR 2.0 genes in this pathway
KIM WT1 TARGETS DN	459	276	All SZGR 2.0 genes in this pathway
ELVIDGE HYPOXIA UP	171	112	All SZGR 2.0 genes in this pathway
ELVIDGE HYPOXIA BY DMOG UP	130	85	All SZGR 2.0 genes in this pathway
ELVIDGE HIF1A TARGETS DN	91	58	All SZGR 2.0 genes in this pathway
ELVIDGE HIF1A AND HIF2A TARGETS DN	104	72	All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA DN	1375	806	All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED DN	805	505	All SZGR 2.0 genes in this pathway
KOKKINAKIS METHIONINE DEPRIVATION 48HR UP	128	95	All SZGR 2.0 genes in this pathway
KOKKINAKIS METHIONINE DEPRIVATION 96HR UP	117	84	All SZGR 2.0 genes in this pathway
LANDIS BREAST CANCER PROGRESSION DN	70	43	All SZGR 2.0 genes in this pathway
CHIARADONNA NEOPLASTIC TRANSFORMATION KRAS CDC25 UP	58	39	All SZGR 2.0 genes in this pathway
CHIARADONNA NEOPLASTIC TRANSFORMATION KRAS UP	126	72	All SZGR 2.0 genes in this pathway
CASTELLANO NRAS TARGETS UP	68	41	All SZGR 2.0 genes in this pathway
MARKEY RB1 CHRONIC LOF UP	115	78	All SZGR 2.0 genes in this pathway
BERENJENO TRANSFORMED BY RHOA FOREVER DN	31	23	All SZGR 2.0 genes in this pathway
LANDIS ERBB2 BREAST TUMORS 324 DN	149	93	All SZGR 2.0 genes in this pathway
BERENJENO TRANSFORMED BY RHOA UP	536	340	All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 3 4WK UP	214	144	All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL TGFB1 TARGETS UP	169	127	All SZGR 2.0 genes in this pathway
HUMMERICH SKIN CANCER PROGRESSION DN	100	64	All SZGR 2.0 genes in this pathway
LI CISPLATIN RESISTANCE UP	28	20	All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN	855	609	All SZGR 2.0 genes in this pathway
JOHANSSON BRAIN CANCER EARLY VS LATE DN	45	35	All SZGR 2.0 genes in this pathway
GROSS HYPOXIA VIA ELK3 DN	156	106	All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS UP	1037	673	All SZGR 2.0 genes in this pathway
WU CELL MIGRATION	184	114	All SZGR 2.0 genes in this pathway
GOTZMANN EPITHELIAL TO MESENCHYMAL TRANSITION DN	206	136	All SZGR 2.0 genes in this pathway
BENPORATH ES 1	379	235	All SZGR 2.0 genes in this pathway
BENPORATH NANOG TARGETS	988	594	All SZGR 2.0 genes in this pathway
BENPORATH OCT4 TARGETS	290	172	All SZGR 2.0 genes in this pathway
BENPORATH SOX2 TARGETS	734	436	All SZGR 2.0 genes in this pathway
BENPORATH NOS TARGETS	179	105	All SZGR 2.0 genes in this pathway
PETRETTO HEART MASS QTL CIS DN	24	15	All SZGR 2.0 genes in this pathway
LEE TARGETS OF PTCH1 AND SUFU DN	83	69	All SZGR 2.0 genes in this pathway
CERVERA SDHB TARGETS 2	114	76	All SZGR 2.0 genes in this pathway
WILLERT WNT SIGNALING	24	13	All SZGR 2.0 genes in this pathway
SANA RESPONSE TO IFNG DN	85	56	All SZGR 2.0 genes in this pathway
BECKER TAMOXIFEN RESISTANCE DN	52	37	All SZGR 2.0 genes in this pathway
BHATTACHARYA EMBRYONIC STEM CELL	89	60	All SZGR 2.0 genes in this pathway
STOSSI RESPONSE TO ESTRADIOL	50	35	All SZGR 2.0 genes in this pathway
LEI MYB TARGETS	318	215	All SZGR 2.0 genes in this pathway
TAVOR CEBPA TARGETS DN	30	21	All SZGR 2.0 genes in this pathway
YAO HOXA10 TARGETS VIA PROGESTERONE DN	19	12	All SZGR 2.0 genes in this pathway
VERHAAK AML WITH NPM1 MUTATED DN	246	180	All SZGR 2.0 genes in this pathway
IGLESIAS E2F TARGETS UP	151	103	All SZGR 2.0 genes in this pathway
REN ALVEOLAR RHABDOMYOSARCOMA DN	408	274	All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE INCIPIENT UP	390	242	All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 16HR DN	86	62	All SZGR 2.0 genes in this pathway
CHEN LVAD SUPPORT OF FAILING HEART DN	42	32	All SZGR 2.0 genes in this pathway
PAL PRMT5 TARGETS UP	203	135	All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP	1691	1088	All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 48HR DN	504	323	All SZGR 2.0 genes in this pathway
LU AGING BRAIN UP	262	186	All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS 2	72	52	All SZGR 2.0 genes in this pathway
ZHANG ANTIVIRAL RESPONSE TO RIBAVIRIN UP	30	21	All SZGR 2.0 genes in this pathway
TSENG IRS1 TARGETS DN	135	88	All SZGR 2.0 genes in this pathway
CUI TCF21 TARGETS 2 UP	428	266	All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS STEM CELL AND PROGENITOR	681	420	All SZGR 2.0 genes in this pathway
BAELDE DIABETIC NEPHROPATHY DN	434	302	All SZGR 2.0 genes in this pathway
TSENG ADIPOGENIC POTENTIAL DN	46	28	All SZGR 2.0 genes in this pathway
HARRIS BRAIN CANCER PROGENITORS	44	23	All SZGR 2.0 genes in this pathway
LEIN ASTROCYTE MARKERS	42	35	All SZGR 2.0 genes in this pathway
GAVIN FOXP3 TARGETS CLUSTER P2	79	55	All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 UNSTIMULATED	1229	713	All SZGR 2.0 genes in this pathway
RIGGINS TAMOXIFEN RESISTANCE DN	220	147	All SZGR 2.0 genes in this pathway
FOSTER TOLERANT MACROPHAGE DN	409	268	All SZGR 2.0 genes in this pathway
KONDO EZH2 TARGETS	245	148	All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS DN	292	189	All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS SILENCED BY METHYLATION DN	281	179	All SZGR 2.0 genes in this pathway
COATES MACROPHAGE M1 VS M2 UP	81	52	All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS UP	673	430	All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS UP	602	364	All SZGR 2.0 genes in this pathway
MARTINEZ RB1 AND TP53 TARGETS UP	601	369	All SZGR 2.0 genes in this pathway
WALLACE PROSTATE CANCER DN	6	6	All SZGR 2.0 genes in this pathway
IWANAGA CARCINOGENESIS BY KRAS UP	170	107	All SZGR 2.0 genes in this pathway
MASRI RESISTANCE TO TAMOXIFEN AND AROMATASE INHIBITORS UP	20	10	All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL DN	701	446	All SZGR 2.0 genes in this pathway
MATZUK EMBRYONIC GERM CELL	19	16	All SZGR 2.0 genes in this pathway
MATZUK MALE REPRODUCTION SERTOLI	28	23	All SZGR 2.0 genes in this pathway
MATZUK SPERMATOGONIA	24	17	All SZGR 2.0 genes in this pathway
BRUECKNER TARGETS OF MIRLET7A3 UP	111	69	All SZGR 2.0 genes in this pathway
CONRAD STEM CELL	39	27	All SZGR 2.0 genes in this pathway
HUPER BREAST BASAL VS LUMINAL UP	54	29	All SZGR 2.0 genes in this pathway
MALONEY RESPONSE TO 17AAG DN	79	45	All SZGR 2.0 genes in this pathway
SWEET LUNG CANCER KRAS UP	491	316	All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA HAPTOTAXIS DN	668	419	All SZGR 2.0 genes in this pathway
CROONQUIST NRAS VS STROMAL STIMULATION DN	99	65	All SZGR 2.0 genes in this pathway
CHIANG LIVER CANCER SUBCLASS UNANNOTATED DN	193	112	All SZGR 2.0 genes in this pathway
KORKOLA EMBRYONIC CARCINOMA VS SEMINOMA UP	22	15	All SZGR 2.0 genes in this pathway
CAIRO HEPATOBLASTOMA UP	207	143	All SZGR 2.0 genes in this pathway
CAIRO LIVER DEVELOPMENT UP	166	105	All SZGR 2.0 genes in this pathway
WONG EMBRYONIC STEM CELL CORE	335	193	All SZGR 2.0 genes in this pathway
WONG ADULT TISSUE STEM MODULE	721	492	All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 30MIN DN	150	99	All SZGR 2.0 genes in this pathway
VERHAAK GLIOBLASTOMA CLASSICAL	162	122	All SZGR 2.0 genes in this pathway
LEE BMP2 TARGETS DN	882	538	All SZGR 2.0 genes in this pathway
IKEDA MIR30 TARGETS DN	27	24	All SZGR 2.0 genes in this pathway
DELACROIX RAR BOUND ES	462	273	All SZGR 2.0 genes in this pathway
RAO BOUND BY SALL4	227	149	All SZGR 2.0 genes in this pathway
LIM MAMMARY STEM CELL UP	489	314	All SZGR 2.0 genes in this pathway
ZWANG EGF PERSISTENTLY DN	61	36	All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA family	Target position			miRNA ID	miRNA seq
miRNA family	UTR start	UTR end	Match method	miRNA ID	miRNA seq
miR-1/206	1609	1616	1A,m8	hsa-miR-1	UGGAAUGUAAAGAAGUAUGUA
				hsa-miR-206^SZ	UGGAAUGUAAGGAAGUGUGUGG
				hsa-miR-613	AGGAAUGUUCCUUCUUUGCC
				hsa-miR-1	UGGAAUGUAAAGAAGUAUGUA
				hsa-miR-206^SZ	UGGAAUGUAAGGAAGUGUGUGG
				hsa-miR-613	AGGAAUGUUCCUUCUUUGCC
miR-101	1186	1193	1A,m8	hsa-miR-101	UACAGUACUGUGAUAACUGAAG
miR-125/351	783	789	1A	hsa-miR-125b^brain	UCCCUGAGACCCUAACUUGUGA
miR-125/351	783	789	1A	hsa-miR-125a^brain	UCCCUGAGACCCUUUAACCUGUG
miR-130/301	1378	1385	1A,m8	hsa-miR-130a^brain	CAGUGCAAUGUUAAAAGGGCAU
				hsa-miR-301	CAGUGCAAUAGUAUUGUCAAAGC
				hsa-miR-130b^brain	CAGUGCAAUGAUGAAAGGGCAU
				hsa-miR-454-3p	UAGUGCAAUAUUGCUUAUAGGGUUU
miR-144	1187	1193	1A	hsa-miR-144	UACAGUAUAGAUGAUGUACUAG
miR-186	1694	1700	1A	hsa-miR-186	CAAAGAAUUCUCCUUUUGGGCUU
miR-19	1377	1383	m8	hsa-miR-19a	UGUGCAAAUCUAUGCAAAACUGA
miR-19	1377	1383	m8	hsa-miR-19b	UGUGCAAAUCCAUGCAAAACUGA
miR-218	1005	1011	m8	hsa-miR-218^brain	UUGUGCUUGAUCUAACCAUGU
miR-23	1211	1217	m8	hsa-miR-23a^brain	AUCACAUUGCCAGGGAUUUCC
miR-23	1211	1217	m8	hsa-miR-23b^brain	AUCACAUUGCCAGGGAUUACC
miR-30-5p	971	978	1A,m8	hsa-miR-30a-5p	UGUAAACAUCCUCGACUGGAAG
				hsa-miR-30c^brain	UGUAAACAUCCUACACUCUCAGC
				hsa-miR-30d^SZ	UGUAAACAUCCCCGACUGGAAG
				hsa-miR-30b^SZ	UGUAAACAUCCUACACUCAGCU
				hsa-miR-30e-5p	UGUAAACAUCCUUGACUGGA
miR-323	1210	1217	1A,m8	hsa-miR-323^brain	GCACAUUACACGGUCGACCUCU
miR-328	959	965	1A	hsa-miR-328^brain	CUGGCCCUCUCUGCCCUUCCGU
miR-342	1213	1219	1A	hsa-miR-342^brain	UCUCACACAGAAAUCGCACCCGUC
miR-381	1323	1329	m8	hsa-miR-381	UAUACAAGGGCAAGCUCUCUGU
miR-409-3p	477	483	m8	hsa-miR-409-3p	CGAAUGUUGCUCGGUGAACCCCU
miR-495	1066	1072	1A	hsa-miR-495^brain	AAACAAACAUGGUGCACUUCUUU
miR-496	1648	1654	m8	hsa-miR-496	AUUACAUGGCCAAUCUC

SZ: miRNAs which differentially expressed in brain cortex of schizophrenia patients comparing with control samples using microarray. Click here to see the list of SZ related miRNAs.
Brain: miRNAs which are expressed in brain based on miRNA microarray expression studies. Click here to see the list of brain related miRNAs.

Gene Page: GJA1