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

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