UBE2E2

ubiquitin conjugating enzyme E2 E2, the group of Ubiquitin conjugating enzymes E2

Basic information

Region (hg38): 3:23203020-23591794

Links

ENSG00000182247 ∙ NCBI:7325 ∙ OMIM:602163 ∙ HGNC:12478 ∙ Uniprot:Q96LR5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the UBE2E2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UBE2E2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in UBE2E2

This is a list of pathogenic ClinVar variants found in the UBE2E2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-23208734-C-A		not specified	Uncertain significance (Dec 07, 2021)
3-23208736-A-G		not specified	Uncertain significance (Jan 19, 2024)
3-23208790-C-T		not specified	Uncertain significance (Feb 05, 2024)
3-23208803-A-C		not specified	Uncertain significance (Nov 18, 2022)
3-23208835-T-C		not specified	Uncertain significance (Dec 13, 2021)
3-23499684-G-C		not specified	Uncertain significance (Jul 25, 2023)
3-23499711-T-C		not specified	Uncertain significance (Oct 06, 2024)
3-23589815-A-G		not specified	Uncertain significance (Aug 11, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UBE2E2	protein_coding	protein_coding	ENST00000396703	5	388774

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.964	0.0362	125383	0	1	125384	0.00000399

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.29	44	112	0.393	0.00000587	1312
Missense in Polyphen		10	34.819	0.2872		418
Synonymous	-0.841	46	39.3	1.17	0.00000220	377
Loss of Function	2.98	0	10.3	0.00	5.17e-7	130

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000881	0.00000881
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys- 11'- and 'Lys-48'-, as well as 'Lys-63'-linked polyubiquitination. Catalyzes the ISGylation of influenza A virus NS1 protein. {ECO:0000269|PubMed:20061386, ECO:0000269|PubMed:20133869, ECO:0000269|PubMed:9371400}.
• Pathway: Ubiquitin mediated proteolysis - Homo sapiens (human);role of parkin in ubiquitin-proteasomal pathway;protein ubiquitylation;Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation (Consensus)

Intolerance Scores

• loftool: 0.152
• rvis_EVS: -0.12
• rvis_percentile_EVS: 44.54

Haploinsufficiency Scores

• pHI: 0.217
• hipred: Y
• hipred_score: 0.826
• ghis: 0.614

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.985

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low

Mouse Genome Informatics

• Gene name: Ube2e2
• Phenotype: renal/urinary system phenotype

Gene ontology

• Biological process: cellular response to DNA damage stimulus;ISG15-protein conjugation;protein K63-linked ubiquitination;protein K48-linked ubiquitination;protein K11-linked ubiquitination;positive regulation of G1/S transition of mitotic cell cycle
• Molecular function: ubiquitin-protein transferase activity;protein binding;ATP binding;ISG15 transferase activity;ubiquitin conjugating enzyme activity