UBE2Q2

ubiquitin conjugating enzyme E2 Q2, the group of Ubiquitin conjugating enzymes E2

Basic information

Region (hg38): 15:75843307-75901078

Links

ENSG00000140367 ∙ NCBI:92912 ∙ OMIM:612501 ∙ HGNC:19248 ∙ Uniprot:Q8WVN8 ∙ 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 UBE2Q2 gene.

• not_specified (48 variants)
• Congenital_dyserythropoietic_anemia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UBE2Q2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000173469.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			48			48
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	48	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UBE2Q2	protein_coding	protein_coding	ENST00000267938	13	57798

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.74e-8	0.918	125692	0	56	125748	0.000223

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.624	163	187	0.872	0.00000871	2447
Missense in Polyphen		66	71.763	0.91969		1016
Synonymous	0.665	61	68.0	0.897	0.00000321	657
Loss of Function	1.77	15	24.5	0.613	0.00000104	324

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000441	0.000441
Ashkenazi Jewish	0.00	0.00
East Asian	0.000226	0.000217
Finnish	0.000324	0.000323
European (Non-Finnish)	0.000136	0.000132
Middle Eastern	0.000226	0.000217
South Asian	0.000482	0.000457
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys- 48'-linked polyubiquitination. {ECO:0000269|PubMed:20061386}.
• Pathway: Ubiquitin mediated proteolysis - 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: 0.0929

Intolerance Scores

• loftool: 0.366
• rvis_EVS: 0.49
• rvis_percentile_EVS: 79.38

Haploinsufficiency Scores

• pHI: 0.175
• hipred: N
• hipred_score: 0.379
• ghis: 0.506

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.629

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ube2q2

Gene ontology

• Biological process: protein ubiquitination;protein K48-linked ubiquitination
• Cellular component: cytosol
• Molecular function: ubiquitin-protein transferase activity;ATP binding;ubiquitin conjugating enzyme activity