Gene Page: UBE3A

Summary ?
GeneID7337
SymbolUBE3A
SynonymsANCR|AS|E6-AP|EPVE6AP|HPVE6A
Descriptionubiquitin protein ligase E3A
ReferenceMIM:601623|HGNC:HGNC:12496|Ensembl:ENSG00000114062|HPRD:03375|Vega:OTTHUMG00000171548
Gene typeprotein-coding
Map location15q11.2
Pascal p-value0.681
Sherlock p-value0.63
Fetal beta0.778
DMG1 (# studies)

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CNV:YESCopy number variation studiesManual curation
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Nishioka_2013Genome-wide DNA methylation analysisThe authors investigated the methylation profiles of DNA in peripheral blood cells from 18 patients with first-episode schizophrenia (FESZ) and from 15 normal controls. 1
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
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 1 

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg187669121525683909UBE3A-0.0510.29DMG:Nishioka_2013


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
ARL20.450.30
CLEC9A0.410.14
CNFN0.410.22
HLA-DPB10.410.29
HLA-DRA0.390.23
HLA-DMA0.380.22
TRAC0.380.22
HLA-DPA10.380.23
CDC42EP10.380.26
CD740.380.19
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
GNB4-0.17-0.09
DPP4-0.16-0.09
C14orf37-0.16-0.08
NAV3-0.16-0.06
PCDH11Y-0.16-0.15
PDE4D-0.16-0.06
MPPED1-0.16-0.07
SSBP2-0.16-0.04
RAB39-0.15-0.05
KLHL1-0.15-0.06

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005515protein bindingIEA-
GO:0005515protein bindingIPI16493710 
GO:0004842ubiquitin-protein ligase activityIEA-
GO:0016874ligase activityIEA-
GO:0016881acid-amino acid ligase activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007420brain developmentTASBrain (GO term level: 7)8988171 
GO:0006464protein modification processIEA-
GO:0006508proteolysisTAS8221889 
GO:0006511ubiquitin-dependent protein catabolic processIEA-
GO:0006511ubiquitin-dependent protein catabolic processTAS8221889 
GO:0044419interspecies interaction between organismsIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005829cytosolIEA-
GO:0005622intracellularIEA-
GO:0005634nucleusIEA-
GO:0043234protein complexIEA-

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
BARD1-BRCA1 associated RING domain 1Reconstituted ComplexBioGRID12890688 
BLKMGC10442B lymphoid tyrosine kinase-HPRD,BioGRID10449731 
BPY2BPY2A | VCY2 | VCY2Abasic charge, Y-linked, 2-HPRD,BioGRID12207887 
BPY2BBPY2 | VCY2 | VCY2Bbasic charge, Y-linked, 2B-HPRD12207887 
BRCA1BRCAI | BRCC1 | IRIS | PSCP | RNF53breast cancer 1, early onsetReconstituted ComplexBioGRID12890688 
CUL7KIAA0076 | dJ20C7.5cullin 7-HPRD12481031 
LCKYT16 | p56lck | pp58lcklymphocyte-specific protein tyrosine kinaseReconstituted Complex
Two-hybrid		BioGRID10449731 
MCM7CDABP0042 | CDC47 | MCM2 | P1.1-MCM3 | P1CDC47 | P85MCM | PNAS-146minichromosome maintenance complex component 7-HPRD,BioGRID9852095 
PGRNR3C3 | PRprogesterone receptor-HPRD,BioGRID9891052 
TP53FLJ92943 | LFS1 | TRP53 | p53tumor protein p53-HPRD9143503 |9369221 
TSC2FLJ43106 | LAM | TSC4tuberous sclerosis 2Reconstituted ComplexBioGRID15175323 
UBE2D1E2(17)KB1 | SFT | UBC4/5 | UBCH5 | UBCH5Aubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)-HPRD,BioGRID10066826 
UBE2D2E2(17)KB2 | PUBC1 | UBC4 | UBC4/5 | UBCH5Bubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast)Biochemical Activity
Reconstituted Complex
Two-hybrid		BioGRID9182527 |9990509 
UBE2D3E2(17)KB3 | MGC43926 | MGC5416 | UBC4/5 | UBCH5Cubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)-HPRD,BioGRID9990509 
UBE2E1UBCH6ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)-HPRD8576257 
UBE2G1E217K | UBC7 | UBE2Gubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, yeast)-HPRD10558980 
UBE2G2UBC7ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast)-HPRD10558980 
UBE2L3E2-F1 | L-UBC | UBCH7 | UbcM4ubiquitin-conjugating enzyme E2L 3UbcH7 interacts with E6AP.BIND9153201 
UBE2L3E2-F1 | L-UBC | UBCH7 | UbcM4ubiquitin-conjugating enzyme E2L 3Biochemical Activity
Co-crystal Structure		BioGRID8576257 |9990509 
|10558980 
UBE2L3E2-F1 | L-UBC | UBCH7 | UbcM4ubiquitin-conjugating enzyme E2L 3-HPRD8576257 |10558980 
UBE2L6MGC40331 | RIG-B | UBCH8ubiquitin-conjugating enzyme E2L 6UbcH8 interacts with E6AP.BIND9153201 
UBE2L6MGC40331 | RIG-B | UBCH8ubiquitin-conjugating enzyme E2L 6-HPRD10558980 
UBQLN2CHAP1 | CHAP1/DSK2 | Dsk2 | HRIHFB2157 | LIC-2 | N4BP4 | PLIC-2 | PLIC2 | RIHFB2157ubiquilin 2-HPRD,BioGRID10983987 


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
BIOCARTA PROTEASOME PATHWAY 2819All SZGR 2.0 genes in this pathway
PID AR PATHWAY 6146All SZGR 2.0 genes in this pathway
PID TELOMERASE PATHWAY 6848All 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
KINSEY TARGETS OF EWSR1 FLII FUSION UP 1278748All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA DN 1375806All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 4 5WK DN 196131All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 5 6WK UP 11668All SZGR 2.0 genes in this pathway
HAMAI APOPTOSIS VIA TRAIL UP 584356All SZGR 2.0 genes in this pathway
HUMMERICH SKIN CANCER PROGRESSION DN 10064All SZGR 2.0 genes in this pathway
SCHLOSSER SERUM RESPONSE DN 712443All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN 855609All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 COMMON DN 483336All SZGR 2.0 genes in this pathway
KOYAMA SEMA3B TARGETS UP 292168All SZGR 2.0 genes in this pathway
PARK HSC VS MULTIPOTENT PROGENITORS DN 1812All SZGR 2.0 genes in this pathway
MAGRANGEAS MULTIPLE MYELOMA IGLL VS IGLK UP 4224All SZGR 2.0 genes in this pathway
GUO HEX TARGETS UP 8154All SZGR 2.0 genes in this pathway
MATSUDA NATURAL KILLER DIFFERENTIATION 475313All SZGR 2.0 genes in this pathway
XU RESPONSE TO TRETINOIN DN 138All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 20HR UP 240152All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 48HR DN 504323All SZGR 2.0 genes in this pathway
YAMAZAKI TCEB3 TARGETS DN 215132All SZGR 2.0 genes in this pathway
KAAB HEART ATRIUM VS VENTRICLE DN 261183All SZGR 2.0 genes in this pathway
XU GH1 EXOGENOUS TARGETS DN 12069All SZGR 2.0 genes in this pathway
WONG PROTEASOME GENE MODULE 4935All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS DN 543317All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS DN 593372All SZGR 2.0 genes in this pathway
MARTINEZ RB1 AND TP53 TARGETS DN 591366All SZGR 2.0 genes in this pathway
MATZUK EARLY ANTRAL FOLLICLE 1311All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305895All SZGR 2.0 genes in this pathway
ROME INSULIN TARGETS IN MUSCLE UP 442263All SZGR 2.0 genes in this pathway
SAKAI CHRONIC HEPATITIS VS LIVER CANCER UP 8363All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 4HR UP 5541All SZGR 2.0 genes in this pathway
GREGORY SYNTHETIC LETHAL WITH IMATINIB 14583All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 2 DN 336211All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE LATE 1137655All SZGR 2.0 genes in this pathway
BRIDEAU IMPRINTED GENES 6347All SZGR 2.0 genes in this pathway
ZWANG CLASS 1 TRANSIENTLY INDUCED BY EGF 516308All SZGR 2.0 genes in this pathway