UBE2H

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

Basic information

Region (hg38): 7:129830732-129952960

Links

ENSG00000186591 ∙ NCBI:7328 ∙ OMIM:601082 ∙ HGNC:12484 ∙ Uniprot:P62256 ∙ 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 UBE2H gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UBE2H 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				2	1	3
missense			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	2	3	1

Variants in UBE2H

This is a list of pathogenic ClinVar variants found in the UBE2H region.

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

Position	Type	Phenotype	Significance	ClinVar
7-129835010-C-A		not specified	Uncertain significance (Jun 30, 2022)
7-129835030-C-T		UBE2H-related disorder	Likely benign (Aug 09, 2019)
7-129835045-G-A		UBE2H-related disorder	Likely benign (Feb 28, 2019)
7-129839298-T-C		UBE2H-related disorder	Benign (Mar 06, 2019)
7-129857572-G-A		UBE2H-related disorder	Likely benign (Apr 29, 2020)
7-129879637-A-G			Uncertain significance (Jun 21, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UBE2H	protein_coding	protein_coding	ENST00000355621	7	122218

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.941	0.0593	125456	0	1	125457	0.00000399

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.30	10	105	0.0951	0.00000545	1203
Missense in Polyphen		0	35.305	0		453
Synonymous	0.686	36	41.6	0.865	0.00000266	325
Loss of Function	3.13	1	13.3	0.0749	7.43e-7	148

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)	0.00000881	0.00000881
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins (PubMed:8132613, PubMed:17588522, PubMed:20061386). E2 ubiquitin conjugating enzyme that transfers ubiquitin to MAEA, a core component of the CTLH E3 ubiquitin-protein ligase complex (PubMed:29911972). In vitro catalyzes 'Lys-11'- and 'Lys-48'-linked polyubiquitination (PubMed:20061386). Capable, in vitro, to ubiquitinate histone H2A (PubMed:8132613). {ECO:0000269|PubMed:17588522, ECO:0000269|PubMed:20061386, ECO:0000269|PubMed:29911972, ECO:0000269|PubMed:8132613}.
• 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: 0.292

Intolerance Scores

• rvis_EVS: 0.04
• rvis_percentile_EVS: 56.25

Haploinsufficiency Scores

• pHI: 0.754
• hipred: Y
• hipred_score: 0.650
• ghis: 0.565

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.974

Mouse Genome Informatics

• Gene name: Ube2h
• 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)

Gene ontology

• Biological process: ubiquitin-dependent protein catabolic process;protein ubiquitination;proteasome-mediated ubiquitin-dependent protein catabolic process;protein K48-linked ubiquitination;protein K11-linked ubiquitination
• Cellular component: cytosol
• Molecular function: ubiquitin-protein transferase activity;protein binding;ATP binding;ubiquitin conjugating enzyme activity