ASXL2 - ASXL transcriptional regulator 2 Gene

Also Known as ASXH2; SHAPNS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55252

About ASXL2

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:25,733,753-25,878,487 (from NCBI)

This gene has 7 transcripts (splice variants), 205 orthologues, 2 paralogues and is associated with 97 phenotypes. Ubiquitous expression in testis (RPKM 5.8), thyroid (RPKM 4.6) and 25 other tissues.

Summary

This gene encodes a member of a family of epigenetic regulators that bind various histone-modifying Enzymes and are involved in the assembly of transcription factors at specific genomic loci. Naturally occurring mutations in this gene are associated with Cancer in several tissue types (breast, bladder, pancreas, ovary, prostate, and blood). This gene plays an important role in neurodevelopment, cardiac function, adipogenesis, and osteoclastogenesis. [provided by RefSeq, Feb 2017]

ASXL2 Products (3)

mRNA	Protein	Name
NM_001369346.1	NP_001356275.1	putative Polycomb group protein ASXL2 isoform 2
NM_001369347.1	NP_001356276.1	putative Polycomb group protein ASXL2 isoform 3
NM_018263.6	NP_060733.4	putative Polycomb group protein ASXL2 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables peroxisome proliferator activated receptor binding	IDA IDA: Inferred from direct assay	21047783	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of fat cell differentiation	IDA IDA: Inferred from direct assay	21047783	GOA
involved in positive regulation of peroxisome proliferator activated receptor signaling pathway	IDA IDA: Inferred from direct assay	21047783	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	21047783	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

ASXL2 Protein Structure

HARE-HTH

ASXH

PHD_3

0
300
600
900
1200
1407 a.a.

Protein Preferred Names	Protein Names
putative Polycomb group protein ASXL2	additional sex combs like 2, transcriptional regulator

Related Diseases

Diseases	Alias
Shashi-Pena Syndrome	SHAPNS Asxl2/Shashi-Pena Syndrome
Bainbridge-Ropers Syndrome	BRPS Severe Feeding Difficulties-Failure To Thrive-Microcephaly Due To Asxl3 Deficiency Syndrome Asxl3-Related Disorder
Classic Pulmonary Blastoma	Biphasic Pulmonary Blastoma
Core Binding Factor Acute Myeloid Leukemia	Cbf Acute Myeloid Leukemia Cbf-Aml Core-Binding Factor Aml
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Hypertelorism	Eyes Wide Apart Eyes Widely Set Hypertelorism Of Orbit Ocular Hypertelorism Orbital Separation Excessive

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-RS01115	ASXL2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ASXL2	VGNC	VGNC:38197
Mus musculus	ASXL2	MGD	MGI:1922552
Bos taurus	ASXL2	VGNC	VGNC:26229
Felis catus	ASXL2	VGNC	VGNC:59985
Macaca mulatta	ASXL2	VGNC	VGNC:70114
Rattus norvegicus	ASXL2	RGD	RGD:1304710