Gene Page: ACTA2

Summary ?
GeneID59
SymbolACTA2
SynonymsAAT6|ACTSA|MYMY5
Descriptionactin, alpha 2, smooth muscle, aorta
ReferenceMIM:102620|HGNC:HGNC:130|Ensembl:ENSG00000107796|HPRD:00031|Vega:OTTHUMG00000018700
Gene typeprotein-coding
Map location10q23.3
Pascal p-value0.648
Sherlock p-value0.598
TADA p-value0.01
Fetal beta-2.253
DMG1 (# studies)
eGeneMyers' cis & trans
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Jaffe_2016Genome-wide DNA methylation analysisThis dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 1
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
ACTA2chr1090695012CTNM_001141945
NM_001613		p.368G>R
p.368G>R		missense
missense		SchizophreniaDNM:Fromer_2014

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg033872561090750898ACTA21.2E-9-0.0091.28E-6DMG:Jaffe_2016

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs17126738chr1103045654ACTA2590.09trans
rs13191618chr646733068ACTA2590.18trans
rs4496986chr86079742ACTA2590.2trans
rs11002508chr1080099525ACTA2590.19trans
rs1018336chr1120744315ACTA2590.1trans
rs11231308chr1162788268ACTA2590.04trans
rs7145468chr1475923649ACTA2590.06trans
rs7254919chr1933219998ACTA2590trans
rs2868186chr1933245877ACTA2590.03trans
rs877910chr2136658376ACTA2590.14trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

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 V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG VASCULAR SMOOTH MUSCLE CONTRACTION 11581All SZGR 2.0 genes in this pathway
PID PDGFRB PATHWAY 129103All SZGR 2.0 genes in this pathway
REACTOME MUSCLE CONTRACTION 4824All SZGR 2.0 genes in this pathway
REACTOME SMOOTH MUSCLE CONTRACTION 2514All SZGR 2.0 genes in this pathway
PICCALUGA ANGIOIMMUNOBLASTIC LYMPHOMA UP 205140All SZGR 2.0 genes in this pathway
LIU PROSTATE CANCER DN 481290All SZGR 2.0 genes in this pathway
BERTUCCI MEDULLARY VS DUCTAL BREAST CANCER DN 169118All SZGR 2.0 genes in this pathway
SENGUPTA NASOPHARYNGEAL CARCINOMA UP 294178All SZGR 2.0 genes in this pathway
TURASHVILI BREAST DUCTAL CARCINOMA VS DUCTAL NORMAL DN 198110All SZGR 2.0 genes in this pathway
TURASHVILI BREAST DUCTAL CARCINOMA VS LOBULAR NORMAL DN 6943All SZGR 2.0 genes in this pathway
TURASHVILI BREAST LOBULAR CARCINOMA VS DUCTAL NORMAL DN 9153All SZGR 2.0 genes in this pathway
TURASHVILI BREAST LOBULAR CARCINOMA VS LOBULAR NORMAL UP 9459All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL DN 460312All SZGR 2.0 genes in this pathway
HORIUCHI WTAP TARGETS UP 306188All SZGR 2.0 genes in this pathway
WANG LMO4 TARGETS DN 352225All SZGR 2.0 genes in this pathway
TONKS TARGETS OF RUNX1 RUNX1T1 FUSION HSC UP 185126All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA DN 1375806All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED DN 805505All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA ANAPLASTIC DN 537339All SZGR 2.0 genes in this pathway
BERENJENO ROCK SIGNALING NOT VIA RHOA DN 4834All SZGR 2.0 genes in this pathway
LANDIS ERBB2 BREAST TUMORS 65 DN 3722All SZGR 2.0 genes in this pathway
CONCANNON APOPTOSIS BY EPOXOMICIN UP 239157All SZGR 2.0 genes in this pathway
GAUSSMANN MLL AF4 FUSION TARGETS G UP 238135All SZGR 2.0 genes in this pathway
LANDIS ERBB2 BREAST TUMORS 324 DN 14993All SZGR 2.0 genes in this pathway
KERLEY RESPONSE TO CISPLATIN UP 4430All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 4 5WK UP 271175All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 6 7WK DN 7954All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL TGFB1 TARGETS UP 169127All SZGR 2.0 genes in this pathway
DARWICHE SKIN TUMOR PROMOTER UP 14296All SZGR 2.0 genes in this pathway
DARWICHE PAPILLOMA RISK LOW DN 165107All SZGR 2.0 genes in this pathway
DARWICHE PAPILLOMA RISK HIGH DN 180110All SZGR 2.0 genes in this pathway
DARWICHE SQUAMOUS CELL CARCINOMA DN 181107All SZGR 2.0 genes in this pathway
ABDULRAHMAN KIDNEY CANCER VHL DN 149All SZGR 2.0 genes in this pathway
EBAUER TARGETS OF PAX3 FOXO1 FUSION UP 207128All SZGR 2.0 genes in this pathway
RASHI RESPONSE TO IONIZING RADIATION 2 12792All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 2B 392251All SZGR 2.0 genes in this pathway
EBAUER MYOGENIC TARGETS OF PAX3 FOXO1 FUSION 5026All SZGR 2.0 genes in this pathway
SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN UP 479299All SZGR 2.0 genes in this pathway
MANTOVANI VIRAL GPCR SIGNALING UP 8654All SZGR 2.0 genes in this pathway
GOTZMANN EPITHELIAL TO MESENCHYMAL TRANSITION UP 6955All SZGR 2.0 genes in this pathway
PETRETTO CARDIAC HYPERTROPHY 3426All SZGR 2.0 genes in this pathway
ONDER CDH1 TARGETS 2 UP 256159All SZGR 2.0 genes in this pathway
ONDER CDH1 SIGNALING VIA CTNNB1 8358All SZGR 2.0 genes in this pathway
LEI HOXC8 TARGETS DN 1713All SZGR 2.0 genes in this pathway
KANNAN TP53 TARGETS UP 5840All SZGR 2.0 genes in this pathway
TARTE PLASMA CELL VS PLASMABLAST DN 309206All SZGR 2.0 genes in this pathway
OKUMURA INFLAMMATORY RESPONSE LPS 183115All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT OK VS DONOR UP 555346All SZGR 2.0 genes in this pathway
LEI MYB TARGETS 318215All SZGR 2.0 genes in this pathway
GERY CEBP TARGETS 12690All SZGR 2.0 genes in this pathway
PETROVA ENDOTHELIUM LYMPHATIC VS BLOOD DN 162102All SZGR 2.0 genes in this pathway
MOREAUX MULTIPLE MYELOMA BY TACI UP 412249All SZGR 2.0 genes in this pathway
IGLESIAS E2F TARGETS UP 151103All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS MATURE CELL 293160All SZGR 2.0 genes in this pathway
KAAB HEART ATRIUM VS VENTRICLE UP 249170All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 24HR DN 148102All SZGR 2.0 genes in this pathway
APRELIKOVA BRCA1 TARGETS 4933All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS 8 8657All SZGR 2.0 genes in this pathway
ZHU CMV 24 HR DN 9164All SZGR 2.0 genes in this pathway
WELCSH BRCA1 TARGETS UP 198132All SZGR 2.0 genes in this pathway
ZHU CMV ALL DN 12893All SZGR 2.0 genes in this pathway
KEEN RESPONSE TO ROSIGLITAZONE DN 10668All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS PEAK AT 0HR 6348All SZGR 2.0 genes in this pathway
NIELSEN LEIOMYOSARCOMA CNN1 UP 1913All SZGR 2.0 genes in this pathway
WANG SMARCE1 TARGETS UP 280183All SZGR 2.0 genes in this pathway
MARCHINI TRABECTEDIN RESISTANCE DN 4934All SZGR 2.0 genes in this pathway
DOUGLAS BMI1 TARGETS DN 314188All SZGR 2.0 genes in this pathway
ZHONG SECRETOME OF LUNG CANCER AND FIBROBLAST 13293All SZGR 2.0 genes in this pathway
IWANAGA CARCINOGENESIS BY KRAS PTEN UP 181112All SZGR 2.0 genes in this pathway
FUJII YBX1 TARGETS UP 4328All SZGR 2.0 genes in this pathway
NADELLA PRKAR1A TARGETS DN 88All SZGR 2.0 genes in this pathway
SMID BREAST CANCER NORMAL LIKE UP 476285All SZGR 2.0 genes in this pathway
SCHRAETS MLL TARGETS UP 3521All SZGR 2.0 genes in this pathway
SWEET LUNG CANCER KRAS DN 435289All SZGR 2.0 genes in this pathway
CROONQUIST STROMAL STIMULATION UP 6042All SZGR 2.0 genes in this pathway
CROONQUIST NRAS VS STROMAL STIMULATION DN 9965All SZGR 2.0 genes in this pathway
MIKKELSEN MCV6 ICP WITH H3K4ME3 AND H3K27ME3 3421All SZGR 2.0 genes in this pathway
NAKAYAMA FGF2 TARGETS 2917All SZGR 2.0 genes in this pathway
HOSHIDA LIVER CANCER SUBCLASS S1 237159All SZGR 2.0 genes in this pathway
SASSON RESPONSE TO GONADOTROPHINS DN 8766All SZGR 2.0 genes in this pathway
SASSON RESPONSE TO FORSKOLIN DN 8868All SZGR 2.0 genes in this pathway
LI INDUCED T TO NATURAL KILLER DN 11683All SZGR 2.0 genes in this pathway
CHICAS RB1 TARGETS CONFLUENT 567365All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP A 898516All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE LATE 1137655All SZGR 2.0 genes in this pathway
PASINI SUZ12 TARGETS DN 315215All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 NOT SATB1 UP 344215All SZGR 2.0 genes in this pathway
ACEVEDO FGFR1 TARGETS IN PROSTATE CANCER MODEL DN 308187All SZGR 2.0 genes in this pathway
ANASTASSIOU CANCER MESENCHYMAL TRANSITION SIGNATURE 6440All SZGR 2.0 genes in this pathway
LIM MAMMARY STEM CELL UP 489314All SZGR 2.0 genes in this pathway
SMIRNOV RESPONSE TO IR 6HR UP 16697All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 2ND EGF PULSE ONLY 1725838All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 1ST EGF PULSE ONLY 1839928All SZGR 2.0 genes in this pathway