UBE2A - ubiquitin conjugating enzyme E2 A Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7319

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	References	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	References	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	References	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

UBE2A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	UBE2A	P49459	EIF2S3	Homo sapiens	P41091	Y2H Array	32814053
Intra	UBE2A	P49459	EIF2S3	Homo sapiens	P41091	Y2H Pooling	32814053
Intra	UBE2A	P49459	EIF2S3	Homo sapiens	P41091	Validated Y2H	32814053
Intra	UBE2A	P49459	RAD18	Homo sapiens	Q9NS91	Y2H Array	19549727
Intra	UBE2A	P49459	RAD18	Homo sapiens	Q9NS91	Anti Tag CoIP	26496610
Intra	UBE2A	P49459	ERN1	Homo sapiens	O75460-2	Validated Y2H	32814053
Intra	UBE2A	P49459	ERN1	Homo sapiens	O75460-2	Y2H Array	32814053
Intra	UBE2A	P49459	ERN1	Homo sapiens	O75460-2	Y2H Pooling	32814053
Intra	UBE2A	P49459	q9y649_human	Homo sapiens	Q9Y649	Y2H Pooling	32814053
Intra	UBE2A	P49459	q9y649_human	Homo sapiens	Q9Y649	Validated Y2H	32814053
Intra	UBE2A	P49459	q9y649_human	Homo sapiens	Q9Y649	Y2H Array	32814053
Intra	UBE2A	P49459	FGFR3	Homo sapiens	P22607	Validated Y2H	32814053
Intra	UBE2A	P49459	FGFR3	Homo sapiens	P22607	Y2H Pooling	32814053
Intra	UBE2A	P49459	FGFR3	Homo sapiens	P22607	Y2H Array	32814053
Intra	UBE2A	P49459	GSN	Homo sapiens	P06396	Y2H Pooling	32814053
Intra	UBE2A	P49459	GSN	Homo sapiens	P06396	Validated Y2H	32814053
Intra	UBE2A	P49459	GSN	Homo sapiens	P06396	Y2H Array	32814053
Intra	UBE2A	P49459	SDCBP	Homo sapiens	O00560	Y2H Prey Pooling	25416956
Intra	UBE2A	P49459	SDCBP	Homo sapiens	O00560	Validated Y2H	25416956
Intra	UBE2A	P49459	SDCBP	Homo sapiens	O00560	Y2H Prey Pooling	32296183
Intra	UBE2A	P49459	SDCBP	Homo sapiens	O00560	Y2H Array	25416956
Intra	UBE2A	P49459	SDCBP	Homo sapiens	O00560	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant UBE2A Proteins

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

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15336	UBE2A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18553	Ube2a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25035	Ube2a Rat Pre-designed siRNA Set A	Pre-designed Set	/	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