UBE2W

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

Basic information

Region (hg38): 8:73780097-73878910

Links

ENSG00000104343NCBI:55284OMIM:614277HGNC:25616Uniprot:Q96B02AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the UBE2W gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UBE2W 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
2
clinvar
2
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 2 0 0

Variants in UBE2W

This is a list of pathogenic ClinVar variants found in the UBE2W region.

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

Position Type Phenotype Significance ClinVar
8-73810557-G-C not specified Uncertain significance (Jan 29, 2024)3185579
8-73810626-T-C not specified Uncertain significance (Dec 27, 2023)3185578

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
UBE2Wprotein_codingprotein_codingENST00000419880 798814
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.09240.90011728817971551246220.0299
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.814391.80.4680.000004161225
Missense in Polyphen731.6570.22112418
Synonymous-0.1113231.21.030.00000151349
Loss of Function2.33413.10.3057.86e-7145

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.03050.0304
Ashkenazi Jewish0.05800.0579
East Asian0.00005590.0000556
Finnish0.02920.0288
European (Non-Finnish)0.04600.0455
Middle Eastern0.00005590.0000556
South Asian0.001780.00177
Other0.03450.0340

dbNSFP

Source: dbNSFP

Function
FUNCTION: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins (PubMed:20061386, PubMed:21229326). Specifically monoubiquitinates the N-terminus of various substrates, including ATXN3, MAPT/TAU, POLR2H/RPB8 and STUB1/CHIP, by recognizing backbone atoms of disordered N-termini (PubMed:23560854, PubMed:23696636, PubMed:25436519). Involved in degradation of misfolded chaperone substrates by mediating monoubiquitination of STUB1/CHIP, leading to recruitment of ATXN3 to monoubiquitinated STUB1/CHIP, and restriction of the length of ubiquitin chain attached to STUB1/CHIP substrates by ATXN3. After UV irradiation, but not after mitomycin-C (MMC) treatment, acts as a specific E2 ubiquitin-conjugating enzyme for the Fanconi anemia complex by associating with E3 ubiquitin-protein ligase FANCL and catalyzing monoubiquitination of FANCD2, a key step in the DNA damage pathway (PubMed:19111657, PubMed:21229326). In vitro catalyzes 'Lys-11'-linked polyubiquitination. UBE2W-catalyzed ubiquitination occurs also in the presence of inactive RING/U-box type E3s, i.e. lacking the active site cysteine residues to form thioester bonds with ubiquitin, or even in the absence of E3, albeit at a slower rate (PubMed:25436519). {ECO:0000269|PubMed:19111657, ECO:0000269|PubMed:20061386, ECO:0000269|PubMed:21229326, ECO:0000269|PubMed:23560854, ECO:0000269|PubMed:23696636, ECO:0000269|PubMed:25436519}.;
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
0.0945

Intolerance Scores

loftool
rvis_EVS
0.12
rvis_percentile_EVS
62.38

Haploinsufficiency Scores

pHI
0.634
hipred
Y
hipred_score
0.712
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.443

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ube2w
Phenotype
endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); cellular phenotype; immune system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; hematopoietic system phenotype; hearing/vestibular/ear phenotype;

Gene ontology

Biological process
DNA repair;protein monoubiquitination;protein quality control for misfolded or incompletely synthesized proteins;protein ubiquitination;proteasome-mediated ubiquitin-dependent protein catabolic process;protein K11-linked ubiquitination;cellular response to misfolded protein
Cellular component
nucleus;nucleoplasm
Molecular function
ubiquitin-protein transferase activity;protein binding;ATP binding;ubiquitin protein ligase binding;ubiquitin conjugating enzyme activity