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ASXL3 - ASXL transcriptional regulator 3 Gene

Also Known as BRPS; KIAA1713

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80816

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01116	ASXL3 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	ASXL3	NCBI