Summary ?
GeneID8974
SymbolP4HA2
Synonyms-
Descriptionprolyl 4-hydroxylase subunit alpha 2
ReferenceMIM:600608|HGNC:HGNC:8547|Ensembl:ENSG00000072682|HPRD:11862|Vega:OTTHUMG00000059647
Gene typeprotein-coding
Map location5q31
Pascal p-value0.399
Sherlock p-value1.018E-4
Fetal beta-0.572
DMG1 (# studies)
eGenePutamen basal ganglia
Myers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 1
GSMA_IGenome scan meta-analysisPsr: 0.0032 

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg091402815131563492P4HA24.973E-4-0.3660.047DMG:Wockner_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs6689013chr1186980817P4HA289740.09trans
rs7607798chr2102043108P4HA289740.1trans
rs1879328chr346568156P4HA289740.18trans
rs7706288chr5141864248P4HA289740.12trans
rs3899870chr1397205717P4HA289740.04trans
rs9300361chr1397210272P4HA289740.05trans
rs16965683chr1538115683P4HA289741.326E-4trans
rs17283561chrX33355912P4HA289740.17trans
rs5975293chrX130948027P4HA289740.18trans
rs2019594595130864001P4HA2ENSG00000072682.142.703E-60.04767007gtex_brain_putamen_basal
rs258845131412238P4HA2ENSG00000072682.143.434E-60.04218770gtex_brain_putamen_basal
rs452365131440620P4HA2ENSG00000072682.143.03E-60.04190388gtex_brain_putamen_basal
rs2699005131482244P4HA2ENSG00000072682.143.03E-60.04148764gtex_brain_putamen_basal
rs25509735131511141P4HA2ENSG00000072682.143.001E-60.04119867gtex_brain_putamen_basal
rs2013815125131511399P4HA2ENSG00000072682.142.009E-60.04119609gtex_brain_putamen_basal
rs1520565131517482P4HA2ENSG00000072682.142.662E-60.04113526gtex_brain_putamen_basal

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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AGGF10.930.93
RAB6A0.920.92
ARMCX30.920.92
YWHAB0.910.89
BTRC0.910.90
C5orf220.900.90
SERINC10.900.90
CLTC0.900.90
VPS410.900.90
UCHL50.900.89
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
FXYD1-0.63-0.58
EIF4EBP3-0.63-0.66
MT-CO2-0.62-0.58
AF347015.21-0.62-0.53
HIGD1B-0.62-0.59
AF347015.31-0.61-0.59
ENHO-0.61-0.67
AF347015.2-0.61-0.56
TLCD1-0.60-0.57
PLA2G5-0.59-0.56

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005506iron ion bindingIEA-
GO:0005515protein bindingIPI14667819 
GO:0004656procollagen-proline 4-dioxygenase activityTAS9211872 
GO:0016706oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donorsIEA-
GO:0016702oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygenIEA-
GO:0009055electron carrier activityTAS9211872 
GO:0016491oxidoreductase activityIEA-
GO:0031418L-ascorbic acid bindingIEA-
GO:0046872metal ion bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0019538protein metabolic processIEA-
GO:0055114oxidation reductionIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005788endoplasmic reticulum lumenIEA-
GO:0005783endoplasmic reticulumIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG ARGININE AND PROLINE METABOLISM 5439All SZGR 2.0 genes in this pathway
ONKEN UVEAL MELANOMA UP 783507All SZGR 2.0 genes in this pathway
FULCHER INFLAMMATORY RESPONSE LECTIN VS LPS UP 579346All SZGR 2.0 genes in this pathway
OSWALD HEMATOPOIETIC STEM CELL IN COLLAGEN GEL DN 275168All SZGR 2.0 genes in this pathway
UDAYAKUMAR MED1 TARGETS DN 240171All SZGR 2.0 genes in this pathway
KIM WT1 TARGETS 12HR UP 162116All SZGR 2.0 genes in this pathway
ELVIDGE HYPOXIA UP 171112All SZGR 2.0 genes in this pathway
ELVIDGE HYPOXIA BY DMOG UP 13085All SZGR 2.0 genes in this pathway
ELVIDGE HIF1A TARGETS DN 9158All SZGR 2.0 genes in this pathway
ELVIDGE HIF1A AND HIF2A TARGETS DN 10472All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED UP 633376All SZGR 2.0 genes in this pathway
PROVENZANI METASTASIS DN 13694All SZGR 2.0 genes in this pathway
DELYS THYROID CANCER UP 443294All SZGR 2.0 genes in this pathway
CHEBOTAEV GR TARGETS UP 7762All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY SERUM DEPRIVATION DN 234147All SZGR 2.0 genes in this pathway
CONCANNON APOPTOSIS BY EPOXOMICIN UP 239157All SZGR 2.0 genes in this pathway
MISSIAGLIA REGULATED BY METHYLATION UP 12678All SZGR 2.0 genes in this pathway
MARTORIATI MDM4 TARGETS FETAL LIVER UP 227137All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS UP 769437All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS UP 1037673All SZGR 2.0 genes in this pathway
BUYTAERT PHOTODYNAMIC THERAPY STRESS UP 811508All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED WELL VS POORLY DN 382224All SZGR 2.0 genes in this pathway
SCHAEFFER PROSTATE DEVELOPMENT 6HR UP 176115All SZGR 2.0 genes in this pathway
SCHAEFFER PROSTATE DEVELOPMENT 48HR DN 428306All SZGR 2.0 genes in this pathway
SWEET KRAS TARGETS UP 8451All SZGR 2.0 genes in this pathway
MANALO HYPOXIA UP 207145All SZGR 2.0 genes in this pathway
HADDAD B LYMPHOCYTE PROGENITOR 293193All SZGR 2.0 genes in this pathway
KANG IMMORTALIZED BY TERT UP 8961All SZGR 2.0 genes in this pathway
MENSE HYPOXIA UP 9871All SZGR 2.0 genes in this pathway
TRAYNOR RETT SYNDROM DN 1914All SZGR 2.0 genes in this pathway
YAMAZAKI TCEB3 TARGETS UP 175116All SZGR 2.0 genes in this pathway
LEONARD HYPOXIA 4735All SZGR 2.0 genes in this pathway
SEMENZA HIF1 TARGETS 3632All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 4 307185All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER UP 973570All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE UP 863514All SZGR 2.0 genes in this pathway
WEST ADRENOCORTICAL TUMOR UP 294199All SZGR 2.0 genes in this pathway
PODAR RESPONSE TO ADAPHOSTIN UP 14798All SZGR 2.0 genes in this pathway
QI PLASMACYTOMA DN 10063All SZGR 2.0 genes in this pathway
WINTER HYPOXIA METAGENE 242168All SZGR 2.0 genes in this pathway
MOOTHA PGC 420269All SZGR 2.0 genes in this pathway
BOYLAN MULTIPLE MYELOMA C D DN 252155All SZGR 2.0 genes in this pathway
TOOKER GEMCITABINE RESISTANCE DN 12284All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA CHEMOTAXIS DN 457302All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA HAPTOTAXIS DN 668419All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3K4ME2 AND H3K27ME3 349234All SZGR 2.0 genes in this pathway
MIKKELSEN NPC HCP WITH H3K4ME3 AND H3K27ME3 210148All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 8 4936All SZGR 2.0 genes in this pathway
SASSON RESPONSE TO GONADOTROPHINS UP 9159All SZGR 2.0 genes in this pathway
SASSON RESPONSE TO FORSKOLIN UP 9058All SZGR 2.0 genes in this pathway
VERHAAK GLIOBLASTOMA MESENCHYMAL 216130All SZGR 2.0 genes in this pathway
QI HYPOXIA 14096All SZGR 2.0 genes in this pathway
CHYLA CBFA2T3 TARGETS DN 242146All SZGR 2.0 genes in this pathway
WIERENGA STAT5A TARGETS UP 217131All SZGR 2.0 genes in this pathway
WIERENGA STAT5A TARGETS GROUP1 13676All SZGR 2.0 genes in this pathway
WIEDERSCHAIN TARGETS OF BMI1 AND PCGF2 5739All SZGR 2.0 genes in this pathway
LEE BMP2 TARGETS DN 882538All SZGR 2.0 genes in this pathway
FARDIN HYPOXIA 11 3229All SZGR 2.0 genes in this pathway
PEDERSEN METASTASIS BY ERBB2 ISOFORM 7 403240All SZGR 2.0 genes in this pathway
KRIEG HYPOXIA NOT VIA KDM3A 770480All SZGR 2.0 genes in this pathway
PHONG TNF RESPONSE NOT VIA P38 337236All SZGR 2.0 genes in this pathway
NABA ECM REGULATORS 238125All SZGR 2.0 genes in this pathway
NABA MATRISOME ASSOCIATED 753411All SZGR 2.0 genes in this pathway
NABA MATRISOME 1028559All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
let-7/982662721Ahsa-let-7abrainUGAGGUAGUAGGUUGUAUAGUU
hsa-let-7bbrainUGAGGUAGUAGGUUGUGUGGUU
hsa-let-7cbrainUGAGGUAGUAGGUUGUAUGGUU
hsa-let-7dbrainAGAGGUAGUAGGUUGCAUAGU
hsa-let-7ebrainUGAGGUAGGAGGUUGUAUAGU
hsa-let-7fbrainUGAGGUAGUAGAUUGUAUAGUU
hsa-miR-98brainUGAGGUAGUAAGUUGUAUUGUU
hsa-let-7gSZUGAGGUAGUAGUUUGUACAGU
hsa-let-7ibrainUGAGGUAGUAGUUUGUGCUGU
miR-124/506257263m8hsa-miR-506UAAGGCACCCUUCUGAGUAGA
hsa-miR-124brainUAAGGCACGCGGUGAAUGCC
miR-129-5p3673731Ahsa-miR-129brainCUUUUUGCGGUCUGGGCUUGC
hsa-miR-129-5pCUUUUUGCGGUCUGGGCUUGCU
miR-30-5p3203271A,m8hsa-miR-30a-5pUGUAAACAUCCUCGACUGGAAG
hsa-miR-30cbrainUGUAAACAUCCUACACUCUCAGC
hsa-miR-30dSZUGUAAACAUCCCCGACUGGAAG
hsa-miR-30bSZUGUAAACAUCCUACACUCAGCU
hsa-miR-30e-5pUGUAAACAUCCUUGACUGGA
miR-9302308m8hsa-miR-9SZUCUUUGGUUAUCUAGCUGUAUGA