UBE2Z

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			27 clinvar			27
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	27	0	0	27

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 19 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_023079.5	RefSeq	NP_075567.2	7	MANE Select
ENST00000360943.10	Ensembl	ENSP00000354201.5	7	MANE Select
ENST00000504684.5	Ensembl	ENSP00000460759.1	2	Standard
ENST00000506498.5	Ensembl	ENSP00000425398.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

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

Biological Process

ubiquitin-dependent protein catabolic process
apoptotic process
negative regulation of endopeptidase activity
protein ubiquitination
positive regulation of apoptotic process

Molecular Function

cysteine-type endopeptidase inhibitor activity
protein binding
ATP binding
ubiquitin conjugating enzyme activity

Cellular Component

nucleus
nucleoplasm
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000360943
Coding exons: 7
Length: 20688
Individuals with no LoFs: 125572
Homozygous LoFs: 0
Heterozygous LoFs: 2
Defined: 125574
p: 0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.87	59	162	0.365	0.00000902	2303
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000018	0.000018	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.118

Intolerance Scores

LoFtool: 0.172
RVIS EVS: -0.14
RVIS percentile EVS: 42.88

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.496

Gene Damage Prediction

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