UBE2A - ubiquitin conjugating enzyme E2 A Gene

Homo sapiens

Also known as UBC2; HHR6A; MRXSN; RAD6A; MRXS30

Gene ID: 7319 | Gene type: protein coding

About UBE2A

Cytogenetic location: Xq24 Genomic coordinates (GRCh38): X:119,574,563-119,584,423 (from NCBI)

This gene has 14 transcripts (splice variants), 220 orthologues, 24 paralogues and is associated with 3 phenotypes. Ubiquitous expression in placenta (RPKM 31.4), colon (RPKM 30.1) and 25 other tissues.

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. [provided by RefSeq, Aug 2013]

UBE2A Products(3)

mRNA	Protein	Name
NM_001282161.2	NP_001269090.1	ubiquitin-conjugating enzyme E2 A isoform 4
NM_003336.4	NP_003327.2	ubiquitin-conjugating enzyme E2 A isoform 1
NM_181762.3	NP_861427.1	ubiquitin-conjugating enzyme E2 A isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19549727	GOA
enables ubiquitin conjugating enzyme activity	IDA IDA: Inferred from direct assay	11953320	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	10908344	GOA
enables ubiquitin-protein transferase activity	IDA IDA: Inferred from direct assay	20061386	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA repair	IGI IGI: Inferred from genetic interaction	1717990	GOA
involved in G2/M transition of mitotic cell cycle	IDA IDA: Inferred from direct assay	11953320	GOA
involved in chromatin remodeling	IMP IMP: Inferred from mutant phenotype	11953320	GOA
involved in positive regulation of mitophagy	IDA IDA: Inferred from direct assay	23685073	GOA
involved in protein K11-linked ubiquitination	IDA IDA: Inferred from direct assay	20061386	GOA
involved in protein K48-linked ubiquitination	IDA IDA: Inferred from direct assay	20061386	GOA
involved in response to UV	IGI IGI: Inferred from genetic interaction	1717990	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of HULC complex	IDA IDA: Inferred from direct assay	19410543	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UBE2A Protein Structure

UQ_con

0
100
152 a.a.

Protein Preferred Names

Protein Names

ubiquitin-conjugating enzyme E2 A

E2 ubiquitin-conjugating enzyme A

Recombinant UBE2A Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71397	UBE2A Protein, Human (GST-His)	P49459-1 (M1-C152)	≥95%

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type

MRXSN	Mental Retardation, X-Linked, Syndromic, Nascimento Type
Mental Retardation, X-Linked, Syndromic 30	Mrxs30
Intellectual Developmental Disorder, X-Linked Syndromic, Nascimento Type	X-Linked Intellectual Disability, Nascimento Type
X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome	Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento-Type

Syndromic X-Linked Intellectual Disability Nascimento Type

Mental Retardation, X-Linked Syndromic, Nascimento-Type

X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome

N1 Diffuse Large B-Cell Lymphoma

N1 Dlbcl

Doid:0081067

Non-Syndromic X-Linked Intellectual Disability 107

Mrx107

X-Linked Mental Retardation 107

Syndromic X-Linked Intellectual Disability Claes-Jensen Type

Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type	Mrxscj
Mrxsj	Syndromic X-Linked Intellectual Disability Due To Jarid1c Mutation
Syndromic X-Linked Mental Retardation Jarid1c-Related

Non-Syndromic X-Linked Intellectual Disability 93

Mrx93

X-Linked Mental Retardation With Macrocephaly

Kaufman Oculocerebrofacial Syndrome

KOS	Blepharophimosis-Ptosis-Intellectual Disability Syndrome
Oculocerebrofacial Syndrome, Kaufman Type	Bpids
Blepharophimosis Ptosis Intellectual Disability Syndrome	Blepharophimosis-Ptosis-Intellectual Disability Syndrome
Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet	Bpid Syndrome

Borjeson-Forssman-Lehmann Syndrome

BFLS	Borj
Borjeson Syndrome	Mrxsbfl
Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome	Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome
Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type	Mental Retardation, Epilepsy, And Endocrine Disorders
Mental Retardation, Epilepsy, And Endocrine Disorder	Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type
Mental Deficiency, Epilepsy And Endocrine Disorders	Boerjeson-Forssman-Lehmann Syndrome
Borjeson-Forssman Syndrome	Mental Deficiency-Epilepsy- Endocrine Disorders

Non-Syndromic X-Linked Intellectual Disability 97

Mrx65	Mrx97
Mrxz	X-Linked Mental Retardation 65
X-Linked Mental Retardation 97

Johanson-Blizzard Syndrome

JBS	Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, And Congenital Deafness
Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia And Congenital Deafness	Johanson Blizzard Syndrome

Ohdo Syndrome, Sbbys Variant

Say-Barber-Biesecker-Young-Simpson Syndrome	SBBYSS
Young-Simpson Syndrome	Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Yss	Sbbys Variant Of Ohdo Syndrome
Blepharophimosis - Intellectual Disability Syndrome, Sbbys Type	Young Simpson Syndrome
Sbbyss Syndrome	Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant
Blepharophimosis And Mental Retardation Syndrome, Say-Barber/Biesecker/Young-Simpson Type	Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/Biesecker/Young-Simpson Type
Bmrs Sbbys	Ohdo Syndrome, Say-Barber-Biesecker Variant
Say-Barber-Biesecker-Young-Simpson Variant Of Ohdo Syndrome	Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome
Say-Barber-Biesecker Variant Of Ohdo Syndrome

Sotos Syndrome 1

Sotos1	Sotos Syndrome, Type 1
Sotos' Syndrome

Ohdo Syndrome

Young Simpson Syndrome	Ohdo Blepharophimosis Syndrome
Blepharophimosis Syndrome Ohdo Type	Blepharophimosis Intellectual Disability Syndromes
Bmrs	Blepharophimosis-Intellectual Disability Syndrome
Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth	Sbbys Syndrome
Say Barber Biesecker Young-Simpson Syndrome	Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Bmrs, Ohdo Type	Blepharophimosis Syndrome, Ohdo Type
Ohdo-Madokoro-Sonoda Syndrome	Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type
Blepharophimosis - Intellectual Disability Syndrome

Syndromic Intellectual Disability

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome	Fifth Digit Syndrome
Css	CSS1
Mrd12	Mental Retardation, Autosomal Dominant 12
Hhid	Dwarfism-Onychodysplasia
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features	Autosomal Dominant Mental Retardation 12
Short Stature-Onychodysplasia.	Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails	Short Stature-Onychodysplasia
Coffin-Siris Syndrome, Type 1	Mental Retardation, Autosomal Dominant, Type 12

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15336	UBE2A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	UBE2A	VGNC	VGNC:78691
Bos taurus	UBE2A	VGNC	VGNC:36576
Rattus norvegicus	UBE2A	RGD	RGD:1359534
Felis catus	UBE2A	VGNC	VGNC:66757
Canis familiaris	UBE2A	VGNC	VGNC:54384
Mus musculus	UBE2A	MGD	MGI:102959
Others	UBE2A	NCBI

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