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Mendeliome

Gene: UBE2B

Green List (high evidence)

UBE2B (ubiquitin conjugating enzyme E2 B)
EnsemblGeneIds (GRCh38): ENSG00000119048
EnsemblGeneIds (GRCh37): ENSG00000119048
OMIM: 179095, Gene2Phenotype
UBE2B is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

i) PMID: 23378580 (2013)- Identified nine splicing, four missense and two nonsense alterations in unrelated oligospermic patients, majority are heterozygous, only 3 were homozygous. Their findings suggested that two distinct molecular mechanisms, mRNA editing and splicing processing, were disrupted in oligozoospermia.

ii) PMID: 26223869 (2015): Reported four known and novel heterozygous variants in idiopathic azoospermia (IA) patients in the Chinese population, and one of the missense variant was demonstrated to inhibit the transcriptional regulation activity of SP1 transcription factor, suggesting that it confers a high risk for IA.

iii) PMID: 12784252 (2003)- Ube2b(-/-) mice were shown to present male infertility and their sperm head shape anomalies suggested that Ube2b may be involved in the replacement of nuclear proteins during spermatid chromatin condensation.
Sources: Expert list
Created: 29 Jul 2025, 5:52 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Male infertility, MONDO:0005372

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Male infertility, MONDO:0005372
OMIM
179095
Clinvar variants
Variants in UBE2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jul 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ube2b has been classified as Green List (High Evidence).

29 Jul 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ube2b has been classified as Green List (High Evidence).

29 Jul 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UBE2B was added gene: UBE2B was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: UBE2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: UBE2B were set to 23378580; 26223869; 12784252 Phenotypes for gene: UBE2B were set to Male infertility, MONDO:0005372 Review for gene: UBE2B was set to GREEN