UBE2R2

ubiquitin conjugating enzyme E2 R2, the group of Ubiquitin conjugating enzymes E2

Basic information

Region (hg38): 9:33817160-33920399

Links

ENSG00000107341 ∙ NCBI:54926 ∙ OMIM:612506 ∙ HGNC:19907 ∙ Uniprot:Q712K3 ∙ 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 UBE2R2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UBE2R2 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			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	0	0

Variants in UBE2R2

This is a list of pathogenic ClinVar variants found in the UBE2R2 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-33817792-C-T		not specified	Uncertain significance (Dec 01, 2022)
9-33817854-G-A		not specified	Uncertain significance (Oct 13, 2023)
9-33886899-A-G		not specified	Uncertain significance (Jul 25, 2023)
9-33917168-T-A		not specified	Uncertain significance (Dec 08, 2021)
9-33917196-G-A		not specified	Uncertain significance (Dec 05, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UBE2R2	protein_coding	protein_coding	ENST00000263228	5	102838

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.978	0.0218	123758	0	1	123759	0.00000404

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.78	40	129	0.310	0.00000615	1579
Missense in Polyphen		8	47.561	0.16821		583
Synonymous	0.184	53	54.7	0.968	0.00000328	422
Loss of Function	3.17	0	11.7	0.00	4.95e-7	144

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)	0.00000889	0.00000889
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 monoubiquitination and 'Lys-48'-linked polyubiquitination. May be involved in degradation of katenin. {ECO:0000269|PubMed:12037680, ECO:0000269|PubMed:20061386}.
• Pathway: Ubiquitin mediated proteolysis - Homo sapiens (human);Herpes simplex infection - Homo sapiens (human);Post-translational protein modification;protein ubiquitylation;Metabolism of proteins;Synthesis of active ubiquitin: roles of E1 and E2 enzymes;Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation;Protein ubiquitination (Consensus)

Recessive Scores

• pRec: 0.159

Intolerance Scores

• rvis_EVS: -0.08
• rvis_percentile_EVS: 47.79

Haploinsufficiency Scores

• pHI: 0.721
• hipred: Y
• hipred_score: 0.739
• ghis: 0.603

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.678

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ube2r2

Gene ontology

• Biological process: protein polyubiquitination;ubiquitin-dependent protein catabolic process;protein monoubiquitination;protein ubiquitination;proteasome-mediated ubiquitin-dependent protein catabolic process;protein K48-linked ubiquitination
• Cellular component: cytosol
• Molecular function: ubiquitin-protein transferase activity;protein binding;ATP binding;ubiquitin conjugating enzyme activity