UBE4A - ubiquitination factor E4A Gene

Homo sapiens

Also known as E4; UFD2; UBOX2; NEDHMS

Gene ID: 9354 | Gene type: protein coding

About UBE4A

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:118,359,600-118,399,211 (from NCBI)

This gene has 3 transcripts (splice variants), 206 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 15.5), appendix (RPKM 14.1) and 25 other tissues.

Summary

This gene encodes a member of the U-box ubiquitin ligase family. The encoded protein is involved in multiubiquitin chain assembly and plays a critical role in chromosome condensation and separation through the polyubiquitination of securin. Autoantibodies against the encoded protein may be markers for scleroderma and Crohn's disease. A pseudogene of this gene is located on the long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]

UBE4A Products(2)

mRNA	Protein	Name
NM_001204077.2	NP_001191006.1	ubiquitin conjugation factor E4 A isoform 2
NM_004788.4	NP_004779.2	ubiquitin conjugation factor E4 A isoform 1

UBE4A Protein Structure

Ufd2P_core

U-box

0
200
400
600
800
1000
1066 a.a.

Protein Preferred Names

Protein Names

ubiquitin conjugation factor E4 A

RING-type E3 ubiquitin transferase E4 A

Related Diseases

Diseases

Alias

Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay

NEDHMS

Neurodevelopmental Disorder With Hypotonia And Gross Motor And Seech Delay

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Rare Pervasive Developmental Disorder

Rare Asd	Rare Pdd
Rare Autism Spectrum Disorder

Pervasive Developmental Disorder

Pervasive Development Disorder	Pervasive Developmental Disorders
Pervasive Child Development Disorders	Autistic Behavior
Autism Spectrum Disorders

Crohn'S Disease

Crohn Disease	Pediatric Crohn'S Disease
Regional Enteritis	Crohn'S Disease Of Large Bowel
Granulomatous Colitis	Enteritis, Granulomatous
Enteritis	Crohn'S Disease Of Colon
Colitis, Granulomatous	Crohn'S Enteritis
Enteritis, Regional	Ileitis
Adenoviral Enteritis	Acute Gastroenteropathy Due To Norwalk Agent
Viral Gastroenteritis Due To Norwalk Agent	Winter Vomiting
Epidemic Winter Vomiting Disease	Small Round Structured Virus Enteritis
Epidemic Vomiting Syndrome	Epidemic Vomiting
Epidemic Nausea	Epidemic Viral Gastroenteritis Due To Norwalk Virus
Noroviral Enteritis	Crohn Disease Nos
Crohns	Cd - [Crohn'S Disease]
Regional Enteritis Of Bowel	Crohn'S Regional Enteritis
Cobble-Stone Appearance Of Intestine	Intestinal Ulcer And Erosion Due To Crohn Disease
Granulomatous Enteritis

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

Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia

Ibmpfd	Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia
Pagetoid Amyotrophic Lateral Sclerosis	Pagetoid Neuroskeletal Syndrome
Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia	Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia
Multisystem Proteinopathy	Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone
Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia	Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement
Lower Motor Neuron Degeneration With Paget-Like Bone Disease	Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone
Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia

Nonaka Myopathy

Gne Myopathy	Hibm
Distal Myopathy With Rimmed Vacuoles	Hereditary Inclusion Body Myopathy
Ibm2	Inclusion Body Myopathy, Quadriceps-Sparing
Qsm	Dmrv
Distal Myopathy, Nonaka Type	Inclusion Body Myopathy 2
Inclusion Body Myopathy, Autosomal Recessive	NM
Nonaka Distal Myopathy	Myopathy, Distal, With Or Without Rimmed Vacuoles
Inclusion Body Myopathy, Hereditary, Autosomal Recessive	Inclusion Body Myopathy Type 2
Quadriceps-Sparing Myopathy	Quadriceps Sparing Myopathy
Rimmed Vacuole Myopathy	Inclusion Body Myopathy 2, Autosomal Recessive, Formerly
Ibm2, Formerly	Hibm2
Hereditary Inclusion Body Myopathy Type 2	Inclusion Body Myopathy 2, Autosomal Recessive
Myopathy, Distal, With Rimmed Vacuoles	Inclusion Body Myopathy Autosomal Recessive
Myopathy, Inclusion Body, Type 2	Myopathy, Nonaka

Cystadenocarcinoma

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-RS15371	UBE4A Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	UBE4A	VGNC	VGNC:36603
Felis catus	UBE4A	VGNC	VGNC:66771
Canis familiaris	UBE4A	VGNC	VGNC:48072
Rattus norvegicus	UBE4A	RGD	RGD:1303173
Macaca mulatta	UBE4A	VGNC	VGNC:78699
Mus musculus	UBE4A	MGD	MGI:2154580

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