Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	UBE2L3
Symbol Alias	UBCH7
Approved Name	ubiquitin-conjugating enzyme E2L 3
Location	22q11.2
Position	chr22:21549447-21624034, 1
External Links	HGNC: 12488 Entrez Gene: 7332 Ensembl: ENSG00000185651 UCSC: uc031rxe.1
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Fallin, M. D.,2005		2 SNP typed, Median D'=1, Median r<sup>2</sup> =1, 1 LD blocks, 0.3 block coverage, all SNP or haplotype P-value > 0.05 in BP and SZ/SZA... This gene is not suggestive to BP.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 28)

GO terms by PBA (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IDA	283

GO terms by database search (count: 27)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0031398	positive regulation of protein ubiquitination	biological process	IGI[12628165]	5
GO:0005524	ATP binding	molecular function	IEA	118
GO:0005515	protein binding	molecular function	IPI[10888878]	563
GO:0016874	ligase activity	molecular function	IEA	16
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0016567	protein ubiquitination	biological process	IDA[21532592]	18
GO:0000151	ubiquitin ligase complex	cellular component	TAS[8563171]	4
GO:0019899	enzyme binding	molecular function	TAS[8563171]	34
GO:0070979	protein K11-linked ubiquitination	biological process	IDA[20061386]	4
GO:0051443	positive regulation of ubiquitin-protein transferase activity	biological process	IGI[12628165]	1
GO:0071385	cellular response to glucocorticoid stimulus	biological process	IDA[17003263]	4
GO:0044770	cell cycle phase transition	biological process	IMP[18946090]	3
GO:0003713	transcription coactivator activity	molecular function	IDA[15367689]	22
GO:0044822	poly(A) RNA binding	molecular function	IDA[22658674]	44
GO:0004842	ubiquitin-protein transferase activity	molecular function	IDA[14765125]; IMP[10888878]; TAS[8563171]	12
GO:0006464	cellular protein modification process	biological process	TAS[8576257]	7
GO:0061631	ubiquitin conjugating enzyme activity	molecular function	IDA[20061386]	2
GO:0070062	extracellular vesicular exosome	cellular component	IDA[23376485]	176
GO:0006355	regulation of transcription, DNA-templated	biological process	IDA[17003263]; IMP[15367689]	62
GO:0031625	ubiquitin protein ligase binding	molecular function	IPI[11278816]	25
GO:0000209	protein polyubiquitination	biological process	IDA[10888878]	7
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0008283	cell proliferation	biological process	IMP[18946090]	37
GO:0006511	ubiquitin-dependent protein catabolic process	biological process	TAS[8563171]	5
GO:0097027	ubiquitin-protein transferase activator activity	molecular function	IGI[12628165]	1
GO:0071383	cellular response to steroid hormone stimulus	biological process	IMP[15367689]	6
GO:1903955	positive regulation of protein targeting to mitochondrion	biological process	IMP[24270810]	7

Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04120	Ubiquitin mediated proteolysis	4

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa05020	Parkinson's disease	3

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
parkinPathway	Role of Parkin in the Ubiquitin-Proteasomal Pathway	3

Gene related interactors from protein-protein interactions data in HPRD (count: 17)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
UBE2L3	PARK2	YES	in vivo	11078524 , 11278816
UBE2L3	UBE3A	NO	in vitro;in vivo;yeast 2-hybrid	10558980 , 8576257
UBE2L3	PTEN	NO	in vitro	12620973
UBE2L3	BRCA1	NO	in vitro	12732733
UBE2L3	CCNB1IP1	NO	yeast 2-hybrid	12612082
UBE2L3	RNF216	NO	in vitro	15107846
UBE2L3	NEDD4	NO	in vitro	9990509
UBE2L3	RNF19A	NO	in vivo	11237715
UBE2L3	CBL	NO	in vitro	10966114 , 10531381 , 11278816
UBE2L3	RNF144B	YES	in vitro	16427630
UBE2L3	SMAD4	NO	in vitro;in vivo	12794086
UBE2L3	CUL9	YES	in vitro;yeast 2-hybrid	10521492
UBE2L3	ARIH2	NO	yeast 2-hybrid	16169070
UBE2L3	UBOX5	NO	in vitro;in vivo;yeast 2-hybrid	11274149
UBE2L3	ARIH1	NO	in vitro;in vivo;yeast 2-hybrid	11278816 , 10521492
UBE2L3	NEDD4L	NO	in vitro	8576257
UBE2L3	RNF144A	NO	in vivo;yeast 2-hybrid	10431818

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
22q11	chr22:15000000-25500000	1 (0/1/0)
22q11.2	chr22:17400000-25500000	2 (0/2/0)
Chr 22	chr22:0-50818468	2 (0/1/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
16380905	This gene is not suggestive to SZ/SZA.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 1)

Reference	ID in SZGene	Result Category
16380905	474	Negative

Gene relationship with MDD

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Region: chr22:21549447..21624034 View in gBrowse