Summary ?
GeneID8924
SymbolHERC2
SynonymsD15F37S1|MRT38|SHEP1|jdf2|p528
DescriptionHECT and RLD domain containing E3 ubiquitin protein ligase 2
ReferenceMIM:605837|HGNC:HGNC:4868|Ensembl:ENSG00000128731|HPRD:06905|Vega:OTTHUMG00000129251
Gene typeprotein-coding
Map location15q13
Pascal p-value0.406
Sherlock p-value0.215
DEG p-valueDEG:Sanders_2014:DS1_p=0.154:DS1_beta=0.022100:DS2_p=7.15e-01:DS2_beta=0.018:DS2_FDR=8.65e-01
Fetal beta-0.341
eGeneMyers' cis & trans
SupportCompositeSet
Darnell FMRP targets
Ascano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CNV:YESCopy number variation studiesManual curation
DEG:Sanders_2013MicroarrayWhole-genome gene expression profiles using microarrays on lymphoblastoid cell lines (LCLs) from 413 cases and 446 controls.
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophreniasClick to show details
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.0114 

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs4864466chr454403975HERC289240.2trans

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
CCNT20.950.96
ZNF3180.930.95
OGT0.930.95
C10orf180.930.96
BRWD10.930.94
MED230.930.95
ZNF6380.930.94
RBM12B0.930.96
ZNF2480.930.95
KIAA09470.920.95
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
FXYD1-0.76-0.85
AF347015.31-0.75-0.84
MT-CO2-0.74-0.85
IFI27-0.74-0.85
HIGD1B-0.73-0.86
AF347015.33-0.71-0.79
ENHO-0.70-0.83
S100B-0.70-0.78
TSC22D4-0.70-0.76
CST3-0.70-0.83

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005085guanyl-nucleotide exchange factor activityNAS9949213 
GO:0005515protein bindingIEA-
GO:0005524ATP bindingIEA-
GO:0004672protein kinase activityIEA-
GO:0016874ligase activityIEA-
GO:0016881acid-amino acid ligase activityIEA-
GO:0020037heme bindingIEA-
GO:0008270zinc ion bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006464protein modification processIEA-
GO:0006468protein amino acid phosphorylationIEA-
GO:0006511ubiquitin-dependent protein catabolic processIEA-
GO:0006886intracellular protein transportNAS9949213 
GO:0030071regulation of mitotic metaphase/anaphase transitionIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005575cellular_componentND-
GO:0005622intracellularIEA-
GO:0005680anaphase-promoting complexIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG UBIQUITIN MEDIATED PROTEOLYSIS 13898All SZGR 2.0 genes in this pathway
REACTOME IMMUNE SYSTEM 933616All SZGR 2.0 genes in this pathway
REACTOME ADAPTIVE IMMUNE SYSTEM 539350All SZGR 2.0 genes in this pathway
REACTOME CLASS I MHC MEDIATED ANTIGEN PROCESSING PRESENTATION 251156All SZGR 2.0 genes in this pathway
REACTOME ANTIGEN PROCESSING UBIQUITINATION PROTEASOME DEGRADATION 212129All SZGR 2.0 genes in this pathway
ONKEN UVEAL MELANOMA UP 783507All SZGR 2.0 genes in this pathway
DAVICIONI MOLECULAR ARMS VS ERMS UP 332228All SZGR 2.0 genes in this pathway
ENK UV RESPONSE EPIDERMIS DN 508354All SZGR 2.0 genes in this pathway
RASHI RESPONSE TO IONIZING RADIATION 5 14789All SZGR 2.0 genes in this pathway
SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN UP 479299All SZGR 2.0 genes in this pathway
GEORGES TARGETS OF MIR192 AND MIR215 893528All SZGR 2.0 genes in this pathway
SHEN SMARCA2 TARGETS UP 424268All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237837All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 2 473224All SZGR 2.0 genes in this pathway
LEE RECENT THYMIC EMIGRANT 227128All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 NOT SATB1 DN 448282All SZGR 2.0 genes in this pathway
ACEVEDO FGFR1 TARGETS IN PROSTATE CANCER MODEL DN 308187All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-103/1072312381A,m8hsa-miR-103brainAGCAGCAUUGUACAGGGCUAUGA
hsa-miR-107brainAGCAGCAUUGUACAGGGCUAUCA
miR-25/32/92/363/367334340m8hsa-miR-25brainCAUUGCACUUGUCUCGGUCUGA
hsa-miR-32UAUUGCACAUUACUAAGUUGC
hsa-miR-92UAUUGCACUUGUCCCGGCCUG
hsa-miR-367AAUUGCACUUUAGCAAUGGUGA
hsa-miR-92bSZUAUUGCACUCGUCCCGGCCUC
miR-30-5p254260m8hsa-miR-30a-5pUGUAAACAUCCUCGACUGGAAG
hsa-miR-30cbrainUGUAAACAUCCUACACUCUCAGC
hsa-miR-30dSZUGUAAACAUCCCCGACUGGAAG
hsa-miR-30bSZUGUAAACAUCCUACACUCAGCU
hsa-miR-30e-5pUGUAAACAUCCUUGACUGGA
miR-369-3p4204271A,m8hsa-miR-369-3pAAUAAUACAUGGUUGAUCUUU
miR-3744214281A,m8hsa-miR-374UUAUAAUACAACCUGAUAAGUG
miR-5003333391Ahsa-miR-500AUGCACCUGGGCAAGGAUUCUG