UBE2J2

ubiquitin conjugating enzyme E2 J2, the group of Ubiquitin conjugating enzymes E2

Basic information

Region (hg38): 1:1253909-1273864

Links

ENSG00000160087NCBI:118424OMIM:619756HGNC:19268Uniprot:Q8N2K1AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the UBE2J2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UBE2J2 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
13
clinvar
13
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 13 0 0

Variants in UBE2J2

This is a list of pathogenic ClinVar variants found in the UBE2J2 region.

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

Position Type Phenotype Significance ClinVar
1-1255213-G-A not specified Uncertain significance (Sep 23, 2023)3185527
1-1255364-C-T not specified Uncertain significance (Oct 25, 2023)3185526
1-1255393-A-G not specified Uncertain significance (Sep 25, 2023)3185525
1-1255399-G-A not specified Uncertain significance (Jun 07, 2024)3330558
1-1255406-C-G not specified Uncertain significance (Mar 23, 2023)2528755
1-1255406-C-T not specified Uncertain significance (Nov 14, 2024)3465077
1-1255418-C-G not specified Uncertain significance (Dec 21, 2022)2337923
1-1255460-C-G not specified Uncertain significance (Nov 14, 2023)3185524
1-1255477-T-C not specified Uncertain significance (Apr 24, 2024)3330560
1-1256050-C-T not specified Uncertain significance (Oct 20, 2024)3465076
1-1257095-G-A not specified Uncertain significance (Oct 08, 2024)3465075
1-1267929-G-C not specified Uncertain significance (Apr 18, 2024)3330559
1-1267964-G-A not specified Uncertain significance (Jan 24, 2023)2466292

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
UBE2J2protein_codingprotein_codingENST00000400930 719977
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9100.0901124247021242490.00000805
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.791001650.6070.00001031807
Missense in Polyphen1552.6070.28513582
Synonymous-0.2057774.71.030.00000566536
Loss of Function2.96112.10.08246.01e-7157

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00004010.0000401
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000008900.00000889
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Catalyzes the covalent attachment of ubiquitin to other proteins. Seems to function in the selective degradation of misfolded membrane proteins from the endoplasmic reticulum (ERAD). {ECO:0000255|PROSITE-ProRule:PRU00388}.;
Pathway
Ubiquitin mediated proteolysis - Homo sapiens (human);Protein processing in endoplasmic reticulum - Homo sapiens (human);Parkinson,s disease - Homo sapiens (human);Parkin-Ubiquitin Proteasomal System pathway;Parkinsons Disease Pathway;Post-translational protein modification;protein ubiquitylation;Metabolism of proteins;Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation;Protein ubiquitination;E3 ubiquitin ligases ubiquitinate target proteins (Consensus)

Recessive Scores

pRec
0.0940

Intolerance Scores

loftool
0.304
rvis_EVS
-0.41
rvis_percentile_EVS
26.23

Haploinsufficiency Scores

pHI
0.109
hipred
Y
hipred_score
0.696
ghis
0.656

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.630

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ube2j2
Phenotype

Gene ontology

Biological process
protein polyubiquitination;response to unfolded protein;protein ubiquitination;ubiquitin-dependent ERAD pathway;positive regulation of protein targeting to mitochondrion
Cellular component
ubiquitin ligase complex;endoplasmic reticulum;endoplasmic reticulum membrane;integral component of membrane
Molecular function
ATP binding;ubiquitin protein ligase binding;ubiquitin conjugating enzyme activity