Gene: UBE2A
Alternate names for this Gene: HHR6A|MRXS30|MRXSN|RAD6A|UBC2
Gene Summary: The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair, and may play a role in transcriptional regulation. Mutations in this gene are associated with cognitive disability. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: X
Location in Chromosome : Xq24
Description of this Gene: ubiquitin conjugating enzyme E2 A
Type of Gene: protein-coding
rs1556235119 in
UBE2A gene and
Dysmorphic features
PMID 24781758 2015 An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
PMID 23685073 2013 Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy.
PMID 28611923 2017 A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.
PMID 24053514 2013 X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
PMID 21108393 2010 UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.
PMID 16909393 2006 UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.
PMID 25287747 2015 UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.
PMID 20412111 2010 Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.
rs1556235551 in
UBE2A gene and
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
PMID 20412111 2010 Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.
PMID 16909393 2006 UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.
rs1556235119 in
UBE2A gene and
Muscle hypotonia
PMID 16909393 2006 UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.
PMID 21108393 2010 UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.
PMID 24053514 2013 X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
PMID 23685073 2013 Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy.
PMID 20412111 2010 Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.
PMID 24781758 2015 An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
PMID 28611923 2017 A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.
PMID 25287747 2015 UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.
rs1556235119 in
UBE2A gene and
Overgrowth
PMID 28611923 2017 A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.
PMID 24053514 2013 X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
PMID 21108393 2010 UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.
PMID 16909393 2006 UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.
PMID 24781758 2015 An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
PMID 23685073 2013 Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy.
PMID 20412111 2010 Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.
PMID 25287747 2015 UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.