Summary ?
GeneID63895
SymbolPIEZO2
SynonymsC18orf30|C18orf58|DA3|DA5|FAM38B|FAM38B2|HsT748|HsT771|MWKS
Descriptionpiezo type mechanosensitive ion channel component 2
ReferenceMIM:613629|HGNC:HGNC:26270|Ensembl:ENSG00000154864|HPRD:07636|Vega:OTTHUMG00000178507
Gene typeprotein-coding
Map location18p11.22
Pascal p-value0.319
Sherlock p-value0.017
Fetal beta-1.727

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGCnpGenome-wide Association StudyGWAS
DNM:McCarthy_2014Whole Exome Sequencing analysisWhole exome sequencing of 57 trios with sporadic or familial schizophrenia.

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
PIEZO2chr1810691256NM_022068p.S2326Nmissense SNVCDSchizophreniaDNM:McCarthy_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs12144179chr17288506FAM38B638950.14trans
rs6725530chr240530640FAM38B638950.1trans
rs1526289chr2150606532FAM38B638950.18trans
rs6448932chr412595798FAM38B638950.13trans
rs7898310chr102819459FAM38B638950.16trans
rs2293743chr11298223FAM38B638950.18trans
rs6632306chrX35590460FAM38B638950.19trans
rs16999998chrX128224551FAM38B638950.16trans

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
ZHOU INFLAMMATORY RESPONSE FIMA UP 544308All SZGR 2.0 genes in this pathway
GRAHAM CML DIVIDING VS NORMAL DIVIDING UP 137All SZGR 2.0 genes in this pathway
GRAHAM CML DIVIDING VS NORMAL QUIESCENT UP 181101All SZGR 2.0 genes in this pathway
HAMAI APOPTOSIS VIA TRAIL UP 584356All SZGR 2.0 genes in this pathway
PATIL LIVER CANCER 747453All SZGR 2.0 genes in this pathway
ALCALAY AML BY NPM1 LOCALIZATION UP 14083All SZGR 2.0 genes in this pathway
VERHAAK AML WITH NPM1 MUTATED UP 183111All SZGR 2.0 genes in this pathway
RIGGI EWING SARCOMA PROGENITOR DN 191123All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER UP 973570All SZGR 2.0 genes in this pathway
SMID BREAST CANCER LUMINAL B UP 172109All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL DN 701446All SZGR 2.0 genes in this pathway
VALK AML CLUSTER 3 3312All SZGR 2.0 genes in this pathway
VALK AML CLUSTER 6 3322All SZGR 2.0 genes in this pathway
VALK AML WITH FLT3 ITD 4022All SZGR 2.0 genes in this pathway
CAIRO HEPATOBLASTOMA UP 207143All SZGR 2.0 genes in this pathway
RATTENBACHER BOUND BY CELF1 467251All SZGR 2.0 genes in this pathway
ACEVEDO FGFR1 TARGETS IN PROSTATE CANCER MODEL UP 289184All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 2ND EGF PULSE ONLY 1725838All SZGR 2.0 genes in this pathway