UBE2Z

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

Basic information

Region (hg38): 17:48908406-48929056

Links

ENSG00000159202 ∙ NCBI:65264 ∙ OMIM:611362 ∙ HGNC:25847 ∙ Uniprot:Q9H832 ∙ 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 UBE2Z gene.

• Inborn genetic diseases (10 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UBE2Z 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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in UBE2Z

This is a list of pathogenic ClinVar variants found in the UBE2Z region.

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

Position	Type	Phenotype	Significance	ClinVar
17-48908579-G-T		not specified	Uncertain significance (Nov 03, 2023)
17-48908583-T-G		not specified	Uncertain significance (Jun 21, 2022)
17-48908597-G-A		not specified	Uncertain significance (Sep 01, 2021)
17-48908646-C-T		not specified	Uncertain significance (Sep 30, 2021)
17-48908667-C-T		not specified	Uncertain significance (Dec 16, 2022)
17-48908673-G-C		not specified	Uncertain significance (Apr 24, 2023)
17-48908748-A-G		not specified	Uncertain significance (Jul 25, 2023)
17-48910866-G-A		not specified	Uncertain significance (Nov 18, 2023)
17-48912837-C-G		not specified	Uncertain significance (Apr 20, 2023)
17-48912981-A-G		not specified	Uncertain significance (Feb 09, 2022)
17-48921262-G-A		not specified	Uncertain significance (Oct 05, 2021)
17-48922909-G-A		not specified	Uncertain significance (Aug 10, 2021)
17-48922935-C-A		not specified	Uncertain significance (Oct 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UBE2Z	protein_coding	protein_coding	ENST00000360943	7	20688

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.938	0.0616	125572	0	2	125574	0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.87	59	162	0.365	0.00000902	2303
Missense in Polyphen		14	66.992	0.20898		747
Synonymous	0.442	55	59.3	0.927	0.00000327	708
Loss of Function	3.12	1	13.2	0.0755	6.56e-7	167

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)	0.0000177	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the covalent attachment of ubiquitin to other proteins (By similarity). Specific substrate for UBA6, not charged with ubiquitin by UBE1. May be involved in apoptosis regulation. {ECO:0000255|PROSITE-ProRule:PRU00388, ECO:0000269|PubMed:17464193, ECO:0000269|PubMed:17597759}.
• 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: 0.118

Intolerance Scores

• loftool: 0.172
• rvis_EVS: -0.14
• rvis_percentile_EVS: 42.88

Haploinsufficiency Scores

• pHI: 0.370
• hipred: Y
• hipred_score: 0.523
• ghis: 0.657

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.496

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ube2z

Gene ontology

• Biological process: ubiquitin-dependent protein catabolic process;apoptotic process;negative regulation of endopeptidase activity;protein ubiquitination;positive regulation of apoptotic process;negative regulation of apoptotic process
• Cellular component: nucleus;nucleoplasm;cytosol
• Molecular function: cysteine-type endopeptidase inhibitor activity;protein binding;ATP binding;ubiquitin conjugating enzyme activity