Summary ?
GeneID1912
SymbolPHC2
SynonymsEDR2|HPH2|PH2
Descriptionpolyhomeotic homolog 2
ReferenceMIM:602979|HGNC:HGNC:3183|Ensembl:ENSG00000134686|HPRD:10340|Vega:OTTHUMG00000004133
Gene typeprotein-coding
Map location1p34.3
Pascal p-value0.129
Sherlock p-value0.963
Fetal beta0.632
eGeneMyers' cis & trans
Meta
SupportCompositeSet
Chromatin Remodeling Genes

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
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
PHC2chr133794548AGNM_004427
NM_198040
p.247M>T
p.782M>T
missense
missense
SchizophreniaDNM:Fromer_2014
PHC2chr133820513CTNM_198040p.440V>MmissenseSchizophreniaDNM:Fromer_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs4653081chr133819829PHC219120.03cis
rs6678247chr133823268PHC219120.01cis
rs942485chr133855822PHC219120.01cis
rs4652871chr133862516PHC219120.05cis

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 IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
AFG3L2FLJ25993AFG3 ATPase family gene 3-like 2 (yeast)Two-hybridBioGRID16169070 
BMI1MGC12685 | PCGF4 | RNF51BMI1 polycomb ring finger oncogene-HPRD,BioGRID9121482 
BSDC1DKFZp686B09139 | FLJ10276BSD domain containing 1Two-hybridBioGRID16169070 
FHL3MGC19547 | MGC23614 | MGC8696 | SLIM2four and a half LIM domains 3Two-hybridBioGRID16189514 
LMO3DAT1 | MGC26081 | RBTN3 | RBTNL2 | RHOM3 | Rhom-3LIM domain only 3 (rhombotin-like 2)Two-hybridBioGRID16189514 
MAPKAPK2MK2mitogen-activated protein kinase-activated protein kinase 2-HPRD,BioGRID15094067 
MAPKAPK33PK | MAPKAP3mitogen-activated protein kinase-activated protein kinase 33pK interacts with HPH2. This interaction was modeled on a demonstrated interaction between p3K from an unspecified species and human HPH2.BIND15563468 
MCM2BM28 | CCNL1 | CDCL1 | D3S3194 | KIAA0030 | MGC10606 | MITOTIN | cdc19minichromosome maintenance complex component 2Two-hybridBioGRID16169070 
MCRS1ICP22BP | INO80Q | MCRS2 | MSP58 | P78microspherule protein 1Affinity Capture-Western
Two-hybrid
BioGRID16189514 
PHC1EDR1 | HPH1 | RAE28polyhomeotic homolog 1 (Drosophila)-HPRD,BioGRID9121482 
PHC2EDR2 | HPH2 | MGC163502 | PH2polyhomeotic homolog 2 (Drosophila)Two-hybridBioGRID16189514 
RPL7MGC117326 | humL7-1ribosomal protein L7Two-hybridBioGRID16169070 
SCMH1Scml3sex comb on midleg homolog 1 (Drosophila)Two-hybridBioGRID16169070 
SFMBT1DKFZp434L243 | RU1 | SFMBTScm-like with four mbt domains 1Two-hybridBioGRID16189514 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
BERENJENO TRANSFORMED BY RHOA UP 536340All SZGR 2.0 genes in this pathway
LASTOWSKA NEUROBLASTOMA COPY NUMBER DN 800473All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS DN 848527All SZGR 2.0 genes in this pathway
PASQUALUCCI LYMPHOMA BY GC STAGE DN 165104All SZGR 2.0 genes in this pathway
STARK PREFRONTAL CORTEX 22Q11 DELETION DN 517309All SZGR 2.0 genes in this pathway
AMIT EGF RESPONSE 480 HELA 164118All SZGR 2.0 genes in this pathway
GEORGES TARGETS OF MIR192 AND MIR215 893528All SZGR 2.0 genes in this pathway
THEILGAARD NEUTROPHIL AT SKIN WOUND DN 225163All SZGR 2.0 genes in this pathway
CHIARETTI ACUTE LYMPHOBLASTIC LEUKEMIA ZAP70 6733All SZGR 2.0 genes in this pathway
GENTILE UV RESPONSE CLUSTER D4 5537All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP 16911088All SZGR 2.0 genes in this pathway
LEONARD HYPOXIA 4735All SZGR 2.0 genes in this pathway
DAZARD RESPONSE TO UV SCC DN 12386All SZGR 2.0 genes in this pathway
GENTILE UV HIGH DOSE DN 312203All SZGR 2.0 genes in this pathway
RAMPON ENRICHED LEARNING ENVIRONMENT EARLY UP 1512All SZGR 2.0 genes in this pathway
DAZARD RESPONSE TO UV NHEK DN 318220All SZGR 2.0 genes in this pathway
XU GH1 AUTOCRINE TARGETS UP 268157All SZGR 2.0 genes in this pathway
FOSTER TOLERANT MACROPHAGE DN 409268All SZGR 2.0 genes in this pathway
AGUIRRE PANCREATIC CANCER COPY NUMBER DN 238145All SZGR 2.0 genes in this pathway
FOURNIER ACINAR DEVELOPMENT LATE 2 277172All SZGR 2.0 genes in this pathway
PASINI SUZ12 TARGETS DN 315215All SZGR 2.0 genes in this pathway
KRIEG HYPOXIA NOT VIA KDM3A 770480All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 2ND EGF PULSE ONLY 1725838All SZGR 2.0 genes in this pathway