ASXL3 - ASXL transcriptional regulator 3 Gene

Homo sapiens

Also known as BRPS; KIAA1713

Gene ID: 80816 | Gene type: protein coding

About ASXL3

Cytogenetic location: 18q12.1 Genomic coordinates (GRCh38): 18:33,578,219-33,751,195 (from NCBI)

This gene has 17 transcripts (splice variants), 140 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in testis (RPKM 1.6), ovary (RPKM 1.3) and 12 other tissues.

Summary

This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcriptional activity of two nuclear hormone receptors, oxysterols receptor LXR-alpha (LXRalpha) and Thyroid Hormone Receptor beta (TRbeta). The encoded protein may also inhibit histone deubiquitination. Mutations in this gene have been identified in human patients with Bainbridge-Ropers syndrome, which is characterized by feeding difficulties, developmental delay and other features. [provided by RefSeq, May 2017]

ASXL3 Products(1)

mRNA	Protein	Name
NM_030632.3	NP_085135.1	putative Polycomb group protein ASXL3

ASXL3 Protein Structure

HARE-HTH

ASXH

PHD_3

0
400
800
1200
1600
2000
2248 a.a.

Protein Preferred Names

Protein Names

putative Polycomb group protein ASXL3

additional sex combs like 3, transcriptional regulator

Related Diseases

Diseases

Alias

Bainbridge-Ropers Syndrome

BRPS	Severe Feeding Difficulties-Failure To Thrive-Microcephaly Due To Asxl3 Deficiency Syndrome
Asxl3-Related Disorder

Bohring-Opitz Syndrome

C-Like Syndrome	Bohring Syndrome
Opitz Trigonocephaly-Like Syndrome	BOPS
Oberklaid-Danks Syndrome	Bos
Bos Syndrome

Carrion'S Disease

Oroya Fever	Carrion Disease
Bartonellosis Due To Bartonella Bacilliformis Infection	Bartonella Infections
Systemic Bartonellosis Due To Bartonella Bacilliformis	Systemic Carrión Disease
Systemic Bartonellosis	Bartonella Fever

Systemic Epstein-Barr Virus Positive T-Cell Lymphoma Of Childhood

Ebv-Positive T-Cell Lymphoproliferative Disorder Of Childhood	Systemic Epstein-Barr Virus-Positive T-Cell Lymphoma Of Childhood
Systemic Ebv-Positive T-Cell Lymphoma Of Childhood	Systemic Ebv+ T-Cell Lymphoma Of Childhood

Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder

CHDFIDD	Cdk13-Related Disorder
Cdk13-Related Chdfidd	Cdk13-Related Congenital Heart Defects, Dysmorphic Facial Features, Intellectual Developmental Disorder

Trench Fever

His-Werner Disease	Quintan Fever
Shin Bone Fever	Wolhynian Fever
Tibialgic Fever	Bartonellosis Due To Bartonella Quintana Infection
Febris Quintata	Five Day Fever
Fever Due To Rickettsia Quintana	Febris Quintana
Fever Due To Bartonella Quintana	Fever Due To Rochalimaea Quintana
Meuse Fever

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

White-Sutton Syndrome

WHSUS	Mrd37
Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome	Mental Retardation, Autosomal Dominant 37
Autosomal Dominant Mental Retardation 37	Pogz-Related Intellectual Disability Syndrome

Epilepsy With Generalized Tonic-Clonic Seizures

Tonic-Clonic Epilepsy	Epileptic Seizures, Tonic-Clonic
Grand Mal Epilepsy	Epilepsy, Tonic-Clonic

Hemophagocytic Lymphohistiocytosis, Familial, 2

Familial Hemophagocytic Lymphohistiocytosis 2	FHL2
Hplh2	Hlh2
Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility To	Lymphohistiocytosis, Hemophagocytic, Familial, Type 2

Noonan Syndrome 1

Noonan Syndrome	NS1
Male Turner Syndrome	Female Pseudo-Turner Syndrome
Turner Phenotype With Normal Karyotype	Noonan Syndrome With Pigmented Villonodular Synovitis
Turner'S Phenotype, Karyotype Normal	Familial Turner Syndrome
Noonan'S Syndrome	Noonan-Ehmke Syndrome
Ns	Pseudo-Ullrich-Turner Syndrome
Turner Syndrome In Female With X Chromosome	Turner-Like Syndrome
Ullrich-Noonan Syndrome	Noonan-Like/Multiple Giant Cell Lesion Syndrome
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions	Pterygium Colli Syndrome
Noonan Syndrome, Type 1	Turner Syndrome, Male

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Cornelia De Lange Syndrome

De Lange Syndrome	Brachmann De Lange Syndrome
Brachmann-De Lange Syndrome	Cdls
Bdls	Typus Degenerativus Amstelodamensis

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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-RS01116	ASXL3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ASXL3	VGNC	VGNC:26230
Mus musculus	ASXL3	MGD	MGI:2685175
Macaca mulatta	ASXL3	VGNC	VGNC:70152
Canis familiaris	ASXL3	VGNC	VGNC:38198
Felis catus	ASXL3	VGNC	VGNC:59986
Rattus norvegicus	ASXL3	RGD	RGD:1305869

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