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	UBE2E2
Symbol Alias	UbcH8, FLJ25157
Approved Name	ubiquitin-conjugating enzyme E2E 2
Previous Name	ubiquitin-conjugating enzyme E2E 2 (homologous to yeast UBC4/5), "ubiquitin-conjugating enzyme E2E 2 (UBC4/5 homolog, yeast)"
Location	3p24.2
Position	chr3:23203020-23591793, 1
External Links	HGNC: 12478 Entrez Gene: 7325 Ensembl: ENSG00000182247 UCSC: uc003ccg.2
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
Kajio, Y., 2014	SNP: rs7612463	No significant association of this gene was observed in BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 12)

GO terms by PBA (count: 0)

GO terms by database search (count: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0070979	protein K11-linked ubiquitination	biological process	IDA[20061386]	4
GO:0005515	protein binding	molecular function	IPI[19549727]	563
GO:0006974	cellular response to DNA damage stimulus	biological process	IMP[21628527]	14
GO:0016874	ligase activity	molecular function	IEA	16
GO:0070534	protein K63-linked ubiquitination	biological process	IDA[20061386]	4
GO:0070936	protein K48-linked ubiquitination	biological process	IDA[20061386]	3
GO:0004842	ubiquitin-protein transferase activity	molecular function	IDA[20061386]	12
GO:1900087	positive regulation of G1/S transition of mitotic cell cycle	biological process	IGI[21628527]	3
GO:0032020	ISG15-protein conjugation	biological process	IDA[16428300]	1
GO:0061631	ubiquitin conjugating enzyme activity	molecular function	IDA[21628527]	2
GO:0005524	ATP binding	molecular function	IEA	118
GO:0042296	ISG15 transferase activity	molecular function	IDA[16428300]	1

Gene related KEGG pathways (count: 1)

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: 0)

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: 4)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
UBE2E2	CUL9	YES	in vivo	10521492
UBE2E2	RNF19A	NO	in vivo	11237715
UBE2E2	RNF8	YES	yeast 2-hybrid	11322894
UBE2E2	UBOX5	NO	yeast 2-hybrid	11274149

Related other genetic factors

Gene related SNPs (count: 19)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs7612463	chr3:23294959 - 23294959(1)	intron_variant; NMD_transcript_variant	1(0/1/0)

LD-proxies (count: 18)

rs_ID	Location	Functional Annotation
rs7641437	chr3:23485980 - 23485980(1)	intron_variant; NMD_transcript_variant
rs17013266	chr3:23449390 - 23449390(1)	intron_variant; NMD_transcript_variant
rs2359766	chr3:23426341 - 23426341(1)	intron_variant; NMD_transcript_variant
rs2359765	chr3:23426282 - 23426282(1)	intron_variant; NMD_transcript_variant
rs7628372	chr3:23424764 - 23424764(1)	intron_variant; NMD_transcript_variant
rs1908475	chr3:23226665 - 23226665(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs10510536	chr3:23228279 - 23228279(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs11926494	chr3:23217123 - 23217123(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs17012829	chr3:23219843 - 23219843(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs1495130	chr3:23199518 - 23199518(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs13094957	chr3:23415589 - 23415589(1)	intron_variant; NMD_transcript_variant
rs7627525	chr3:23423668 - 23423668(1)	intron_variant; NMD_transcript_variant
rs1496653	chr3:23413299 - 23413299(1)	intron_variant; NMD_transcript_variant
rs7613185	chr3:23413973 - 23413973(1)	intron_variant; NMD_transcript_variant
rs2017065	chr3:23332584 - 23332584(1)	intron_variant; NMD_transcript_variant
rs2173058	chr3:23404000 - 23404000(1)	intron_variant; NMD_transcript_variant
rs6792370	chr3:23248401 - 23248401(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs7627380	chr3:23305304 - 23305304(1)	intron_variant; NMD_transcript_variant

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)
3p24	chr3:16300000-30800000	1 (0/1/0)
Chr 3	chr3:0-198295559	2 (0/2/0)
3p24-p26	chr3:0-30800000	1 (0/1/0)

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
24196380	In the SCZ sample, only one SNP in UBE2E2 (rs7612463) showed a nominal significant association (Puncorrected<0.05)	Positive

Overlap with SZ from candidate gene intersection analysis (count: 0)

Gene relationship with MDD

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Region: chr3:23203020..23591793 View in gBrowse