UBE3A - ubiquitin protein ligase E3A Gene

Also Known as AS; ANCR; PIX1; E6-AP; HPVE6A; EPVE6AP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7337

About UBE3A

Cytogenetic location: 15q11.2 Genomic coordinates (GRCh38): 15:25,333,728-25,439,056 (from NCBI)

This gene has 33 transcripts (splice variants), 203 orthologues, 24 paralogues and is associated with 7 phenotypes. Ubiquitous expression in testis (RPKM 14.2), thyroid (RPKM 14.2) and 25 other tissues.

Summary

This gene encodes an E3 ubiquitin-protein Ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in Other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]

UBE3A Products (28)

mRNA	Protein	Name
NM_000462.5	NP_000453.2	ubiquitin-protein ligase E3A isoform 2
NM_001354505.1	NP_001341434.1	ubiquitin-protein ligase E3A isoform 3
NM_001354506.2	NP_001341435.1	ubiquitin-protein ligase E3A isoform 1
NM_001354507.2	NP_001341436.1	ubiquitin-protein ligase E3A isoform 1
NM_001354508.2	NP_001341437.1	ubiquitin-protein ligase E3A isoform 1
NM_001354509.2	NP_001341438.1	ubiquitin-protein ligase E3A isoform 1
NM_001354511.2	NP_001341440.1	ubiquitin-protein ligase E3A isoform 1
NM_001354512.2	NP_001341441.1	ubiquitin-protein ligase E3A isoform 1
NM_001354513.2	NP_001341442.1	ubiquitin-protein ligase E3A isoform 1
NM_001354523.2	NP_001341452.1	ubiquitin-protein ligase E3A isoform 1
NM_001354526.1	NP_001341455.1	ubiquitin-protein ligase E3A isoform 1
NM_001354538.2	NP_001341467.1	ubiquitin-protein ligase E3A isoform 3
NM_001354539.2	NP_001341468.1	ubiquitin-protein ligase E3A isoform 1
NM_001354540.2	NP_001341469.1	ubiquitin-protein ligase E3A isoform 1
NM_001354541.2	NP_001341470.1	ubiquitin-protein ligase E3A isoform 1
NM_001354542.2	NP_001341471.1	ubiquitin-protein ligase E3A isoform 1
NM_001354543.2	NP_001341472.1	ubiquitin-protein ligase E3A isoform 1
NM_001354544.2	NP_001341473.1	ubiquitin-protein ligase E3A isoform 1
NM_001354545.2	NP_001341474.1	ubiquitin-protein ligase E3A isoform 4
NM_001354546.2	NP_001341475.1	ubiquitin-protein ligase E3A isoform 5
NM_001354547.2	NP_001341476.1	ubiquitin-protein ligase E3A isoform 6
NM_001354548.2	NP_001341477.1	ubiquitin-protein ligase E3A isoform 6
NM_001354549.2	NP_001341478.1	ubiquitin-protein ligase E3A isoform 7
NM_001354550.2	NP_001341479.1	ubiquitin-protein ligase E3A isoform 8
NM_001354551.2	NP_001341480.1	ubiquitin-protein ligase E3A isoform 9
NM_001374461.1	NP_001361390.1	ubiquitin-protein ligase E3A isoform 1
NM_130838.4	NP_570853.1	ubiquitin-protein ligase E3A isoform 1
NM_130839.5	NP_570854.1	ubiquitin-protein ligase E3A isoform 3

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	7624774	GOA
enables ubiquitin protein ligase activity	IDA IDA: Inferred from direct assay	30020076	GOA
enables ubiquitin protein ligase activity	IMP IMP: Inferred from mutant phenotype	7708685	GOA
enables ubiquitin-protein transferase activity	IDA IDA: Inferred from direct assay	12890688	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of protein ubiquitination	IDA IDA: Inferred from direct assay	17108031	GOA
involved in progesterone receptor signaling pathway	IDA IDA: Inferred from direct assay	16772533	GOA
involved in protein K48-linked ubiquitination	IDA IDA: Inferred from direct assay	12890688	GOA
involved in protein autoubiquitination	IDA IDA: Inferred from direct assay	24105792	GOA
involved in regulation of circadian rhythm	IMP IMP: Inferred from mutant phenotype	24728990	GOA
involved in regulation of ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	24728990	GOA
involved in response to progesterone	IDA IDA: Inferred from direct assay	16772533	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

UBE3A Protein Structure

HECT

0
200
400
600
800
875 a.a.

Protein Preferred Names	Protein Names
ubiquitin-protein ligase E3A	CTCL tumor antigen se37-2

UBE3A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	UBE3A	Q05086	E6	Human papillomavirus	P04019	SLCA	17023019
Cross	UBE3A	Q05086	E6	Human papillomavirus	P03126	DLS	26789255
Cross	UBE3A	Q05086	E6	Human papillomavirus	P03126	Pull Down	22483108
Cross	UBE3A	Q05086	E6	Human papillomavirus	P03126	Pull Down	7624774
Cross	UBE3A	Q05086	E6	Human papillomavirus	P03126	SLC	22898364
Cross	UBE3A	Q05086	E6	Human papillomavirus	P03126	GMS	26789255
Cross	UBE3A	Q05086	E6	Human papillomavirus	P06463	SPR	16493710
Cross	UBE3A	Q05086	E6	Human papillomavirus	P06463	Pull Down	7624774
Cross	UBE3A	Q05086	E6	Human papillomavirus	P06463	SLC	22898364
Intra	UBE3A	Q05086	TAT	Homo sapiens	P17735	Validated Y2H	25910212
Intra	UBE3A	Q05086	TAT	Homo sapiens	P17735	Y2H Array	31515488
Intra	UBE3A	Q05086	TAT	Homo sapiens	P17735	Y2H Array	25910212
Intra	UBE3A	Q05086	MEF2C	Homo sapiens	Q06413	IF	31988313
Intra	UBE3A	Q05086	MEF2C	Homo sapiens	Q06413	Anti Tag CoIP	31988313
Intra	UBE3A	Q05086	TP53	Homo sapiens	P04637	Pull Down	12620801
Intra	UBE3A	Q05086	TP53	Homo sapiens	P04637	SPR	16493710
Intra	UBE3A	Q05086	TP53	Homo sapiens	P04637	Pull Down	26789255
Intra	UBE3A	Q05086	MCM6	Homo sapiens	Q14566	Confocal	29426014
Cross	UBE3A	Q05086	E6	Human papillomavirus	Q77E16	TAP	17166906
Cross	UBE3A	Q05086	E6	Human papillomavirus	Q77E16	SLCA	17023019
Cross	UBE3A	Q05086	E6	Bovine papillomavirus	P06931	Pull Down	7624774
Cross	UBE3A	Q05086	E6	Human papillomavirus	P36799	SLC	22898364
Cross	UBE3A	Q05086	E6	Human papillomavirus	P36799	SPR	15890204

Cross: Cross-species interaction Intra: Intraspecies interaction

UBE3A Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83561	Ubiquitin Protein Ligase E3A Antibody (YA3306)	WB, ICC/IF, FC, IP	Human, Mouse, Rat
HY-P83561A	Ubiquitin Protein Ligase E3A Antibody (YA3306)(PBS only)	WB, ICC/IF, FC, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Angelman Syndrome	AS Happy Puppet Syndrome Happy Puppet Syndrome, Formerly Puppetlike Syndrome
Angelman Syndrome Due To A Point Mutation
Papilloma	Papillomatosis
Chromosome 15q11-Q13 Duplication Syndrome	15q11q13 Microduplication Syndrome Duplication 15q11-Q13 Syndrome Autism Susceptibility 4 15q11-Q13 Duplication Syndrome Dup15q Syndrome Duplication/Inversion 15q11 Idic(15) Inv Dup(15) Inverted Duplication 15 Isodicentric Chromosome 15 Isodicentric Chromosome 15 Syndrome Non-Distal Tetrasomy 15q 15q11q13 Duplication Syndrome Dup(15)(Q11q13) Trisomy 15q11q13
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Upd(15)Pat
Angelman Syndrome Due To Maternal 15q11q13 Deletion	Angelman Syndrome Due To Maternal Monosomy 15q11q13
Angelman Syndrome Due To Imprinting Defect In 15q11-Q13
Rett Syndrome	Atypical Rett Syndrome RTT Rett Disorder Rts Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use Rett Syndrome, Preserved Speech Variant Rett Syndrome, Atypical Rett'S Disorder Rett Syndrome Variant Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome Cerebroatrophic Hyperammonemia Rett Like Syndrome Rett'S Syndrome Atypical Rtt Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Rett Syndrome Preserved Speech Variant Rett Syndrome Zappella Variant Rett Syndrome, Zappella Variant
Phelan-Mcdermid Syndrome	Chromosome 22q13.3 Deletion Syndrome 22q13.3 Deletion Syndrome Telomeric 22q13 Monosomy Syndrome PHMDS Deletion 22q13 Syndrome 22q13.3 Deletion Deletion 22q13.3 Syndrome Monosomy 22q13 Monosomy 22q13.3 22q13 Deletion Syndrome Monosomy 22q13 Syndrome 22q13 Deletion Chromosome Deletion
Prader-Willi Syndrome	Prader-Labhart-Willi Syndrome PWS Willi-Prader Syndrome Prader-Willi Syndrome Due To Translocation Prader-Willi Syndrome Due To Imprinting Mutation Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 Prader Willi Syndrome Upd(15)Mat
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Monocular Exotropia
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Hypotonia
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
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Precocious Puberty, Central, 2	CPPB2 Central Precocious Puberty 2 Precocious Puberty, Central 2 Precocious Puberty, Central, Type 2
Cervical Cancer	Cervical Cancer, Somatic Neoplasm Of Uterine Cervix Cervix Cancer Uterine Cervical Neoplasm Cervical Neoplasm Cervix Uteri Cancer Tumor Of The Cervix Uteri CERCA Uterine Cervical Cancer Neoplasms Cervical Uterine Cervical Neoplasms Cervical Cancers Cancer, Cervical, Somatic Malignant Tumor Of Cervix Cervix Carcinoma
External Ear Squamous Cell Carcinoma	Epidermoid Carcinoma Of The External Ear Squamous Cell Carcinoma Of External Ear
Penile Cancer	Penis Carcinoma Carcinoma Of Penis Penile Neoplasm Penile Carcinoma Penile Neoplasms Malignant Neoplasm Of Penis Ca Penis Malignant Neoplasm Of Body Of Penis Malignant Penile Tumor Penile Ca
Spastic Ataxia, Charlevoix-Saguenay Type	Charlevoix-Saguenay Spastic Ataxia Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay Arsacs SACS Spax6 Spastic Ataxia Charlevoix-Saguenay Type Spastic Ataxia 6, Autosomal Recessive Autosomal Recessive Spastic Ataxia Type 6 Spastic Ataxia Of Charlevoix-Saguenay Atx/Hsp-Sacs Ataxia, Spastic, Charlevoix-Saguenay Type
Suppressor Of Tumorigenicity 3	Cervical Carcinoma ST3 Tumor-Suppressor Gene, Hela Cell Type Tshl Cervical Carcinoma, Tumor-Suppressor Gene Involved In Ccts Cervix Carcinoma
Gene Duplication Disease	Gene Duplication Syndrome
Christianson Syndrome	X-Linked Angelman-Like Syndrome X-Linked Intellectual Disability, South African Type X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome Mental Retardation, Microcephaly, Epilepsy, And Ataxia Syndrome Mental Retardation, X-Linked Syndromic, Christianson Type Mrxsch Angelman-Like Syndrome X-Linked Intellectual Disability Microcephaly Epilepsy And Ataxia Syndrome Intellectual Disability X-Linked Syndromic Christianson Type Mrxs Christianson X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy Angelman-Like Syndrome, X-Linked Intellectual Deficit, X-Linked, South African Type Mental Retardation X-Linked, South African Type Mental Retardation, X-Linked, Syndromic, Christianson Type
External Ear Carcinoma	Carcinoma Of External Ear Carcinoma Of The External Ear
Anogenital Venereal Wart	Genital Warts Condylomata Acuminata Anogenital Warts Condyloma Acuminatum Anogenital Human Papilloma Virus Infectious Disease Genital Wart Virus Infectious Disease Venereal Wart Venereal Warts Verrucae Anogenitales Verrucae Genitales
Pitt-Hopkins Syndrome	PTHS Encephalopathy, Severe Epileptic, With Autonomic Dysfunction Mental Retardation, Syndromal, With Intermittent Hyperventilation Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea Pitt Hopkins Syndrome Phs Encephalopathy Severe Epileptic With Autonomic Dysfunction
Vaginal Cancer	Malignant Neoplasm Of Vagina Vaginal Neoplasms Malignant Tumor Of Vagina Malignant Vaginal Tumor Neoplasm Of Vagina Vagina Neoplasm Vaginal Tumor Vaginal Carcinoma Vaginal Malignant Epithelial Tumor Vaginal Neoplasm Malignant Vaginal Neoplasm Vagina Carcinoma Vaginal Neoplasia Cancer Of Vagina Malignant Tumour Of Vagina Carcinoma Of Vagina Primary Malignant Neoplasm Of Vagina Vagina Wall Cancer Vaginal Wall Cancer
Kleefstra Syndrome	9q34.3 Microdeletion Syndrome 9q Subtelomeric Deletion Syndrome 9q- Syndrome Chromosome 9q Deletion Syndrome 9q34.3 Deletion Syndrome 9qstds Chromosome 9q34.3 Deletion Syndrome Chromosome 9, Trisomy 9q
Anus Cancer	Anal Cancer Anal Carcinoma Malignant Anal Tumor Cancer Of The Anus Malignant Neoplasm Of Anus Anus Neoplasms
Mowat-Wilson Syndrome	MOWS Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease Hirschsprung Disease-Mental Retardation Syndrome Mowat-Wilson Syndrome Due To Monosomy 2q22 Hirschsprung Disease Mental Retardation Syndrome Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease Hirschsprung Disease - Intellectual Disability Syndrome Hirschsprung Disease Intellectual Disability Syndrome Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease Mws Hirschsprung Disease-Intellectual Disability Syndrome Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22) Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22 Mowat-Wilson Syndrome Due To 2q22 Microdeletion Mowat-Wilson Syndrome Due To Del(2)Q(22) Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation
Schaaf-Yang Syndrome	Prader-Willi-Like Syndrome Chitayat-Hall Syndrome SHFYNG Pwls Magel2-Related Prader-Willi-Like Syndrome Magel2-Related Pwls Arthrogryposis, Distal, With Hypopituitarism, Mental Retardation, And Facial Anomalies Distal Arthrogryposis With Hypopituitarism, Intellectual Disability And Facial A Distal Arthrogryposis With Hypopituitarism, Intellectual Disability And Facial Anomalies Pws Due To A Point Mutation Pws Due To Point Mutation Prader-Willi Syndrome Due To A Point Mutation Prader-Willi Syndrome Due To Point Mutation Pws-Like
Epidermodysplasia Verruciformis 1	Epidermodysplasia Verruciformis Epidermodysplasia Verruciformis, Susceptibility To, 1 Lutz-Lewandowsky Epidermodysplasia Verruciformis EV1 Lewandowsky-Lutz Syndrome Ev
Chromosomal Disease	Chromosomal Disorders Congenital Chromosomal Disease
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Plantar Wart	Verruca Plantaris Verrucae On Sole Of Foot Mosaic Plantar Warts
Chromosome 15q13.3 Deletion Syndrome	Chromosome 15q13.3 Microdeletion Syndrome 15q13.3 Microdeletion Syndrome 15q13.3 Microdeletion Microdeletion 15q13.3 Syndrome Del(15)(Q13.3) Monosomy 15q13.3
Childhood Disintegrative Disease	Childhood Disintegrative Disorder Disintegrative Psychosis Heller'S Syndrome Symbiotic Psychosis Dementia Infantilis Heller Syndrome Shared Paranoid Disorder
Specific Developmental Disorder
Oropharynx Cancer	Oropharyngeal Cancer Oropharyngeal Carcinoma Malignant Neoplasm Of Oropharynx Malignant Oropharyngeal Tumor Malignant Tumor Of Oropharynx Malignant Tumour Of Mesopharynx Oropharyngeal Cancer, Adult Cancer Of The Oropharynx
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Anus Disease	Anal Fissure Ulcer Of Anus Anus Diseases Anal Disease Anal Fissure And Fistula Anal Ulcer Fissure In Ano Nontraumatic Tear Of Anus Solitary Anal Ulcer Abnormality Of The Anus Anal Disorders Ulcer Of Anus And Rectum Solitary Ulcer Of Anus Stercoral Ulcer Of Anus
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
Chromosomal Deletion Syndrome
Silver-Russell Syndrome 1	Silver-Russell Syndrome Russell-Silver Syndrome Silver-Russell Dwarfism Rss SRS1 Srs Silver Russell Dwarfism Russell Silver Syndrome Silver Russell Syndrome
Sotos Syndrome	Cerebral Gigantism SOTOS Chromosome 5q35 Deletion Syndrome Sotos Syndrome 1, Formerly Sotos1, Formerly Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development Sotos Sequence Sotos' Syndrome Sotos1 Sotos Syndrome 1
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
Syndromic X-Linked Intellectual Disability	X-Linked Syndromic Intellectual Disability
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Williams-Beuren Syndrome	Williams Syndrome WBS Wms Deletion 7q11.23 Monosomy 7q11.23 Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb Fanconi Schlesinger Syndrome Beuren Syndrome Elfin Facies Syndrome Elfin Facies With Hypercalcemia Hypercalcemia-Supravalvar Aortic Stenosis Ws
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic

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

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Phase
HY-177615	Apazunersen	Inhibitor	/	Phase 3
HY-177615A	Apazunersen sodium	Inhibitor	/	Phase 3
HY-177651	Obudanersen	Inhibitor	/	Phase 2
HY-177651A	Obudanersen sodium	Inhibitor	/	Phase 2
HY-148130	Rugonersen	Activator	98.50%	Phase 1
HY-148130A	Rugonersen sodium		97.47%	Phase 1

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-162683	(S)-PHA533533		98.27%	Unkown
HY-RS15368	UBE3A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20508	Ube3a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27016	Ube3a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	UBE3A	RGD	RGD:1306361
Bos taurus	UBE3A	VGNC	VGNC:36599
Macaca mulatta	UBE3A	VGNC	VGNC:99337
Felis catus	UBE3A	VGNC	VGNC:66767
Mus musculus	UBE3A	MGD	MGI:105098
Canis familiaris	UBE3A	VGNC	VGNC:48068
Others	UBE3A	NCBI