Additional sex combs like 2, transcriptional regulator

Additional sex combs like 2, transcriptional regulator is a protein that in humans is encoded by the ASXL2 gene. ^[5]

ASXL2
Identifiers
Aliases	ASXL2, ASXH2, additional sex combs like 2, transcriptional regulator, SHAPNS, ASXL transcriptional regulator 2
External IDs	OMIM: 612991; MGI: 1922552; HomoloGene: 10102; GeneCards: ASXL2; OMA:ASXL2 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p23.3 Start 25,733,753 bp[1] End 25,878,487 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 A1.1 Start 3,426,857 bp[2] End 3,506,852 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in caput epididymis corpus epididymis tail of epididymis mucosa of paranasal sinus trabecular bone skin of thigh lower lobe of lung bronchial epithelial cell Skeletal muscle tissue of biceps brachii superficial temporal artery Top expressed in lumbar spinal ganglion genital tubercle epithelium of small intestine interventricular septum spermatocyte parotid gland cumulus cell tail of embryo lumbar subsegment of spinal cord Paneth cell More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding peroxisome proliferator activated receptor binding metal ion binding chromatin binding Cellular component nucleus nucleoplasm PR-DUB complex Biological process positive regulation of fat cell differentiation regulation of transcription, DNA-templated transcription, DNA-templated positive regulation of transcription by RNA polymerase II positive regulation of peroxisome proliferator activated receptor signaling pathway protein deubiquitination animal organ morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55252 75302 Ensembl ENSG00000143970 ENSMUSG00000037486 UniProt Q76L83 Q8BZ32 RefSeq (mRNA) NM_018263 NM_001369346 NM_001369347 NM_001270988 NM_172421 RefSeq (protein) NP_060733 NP_001356275 NP_001356276 NP_001257917 NP_766009 Location (UCSC) Chr 2: 25.73 – 25.88 Mb Chr 12: 3.43 – 3.51 Mb PubMed search [3] [4]
Wikidata
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Function

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.

See also

• Polycomb-group proteins
• ASXL1
• ASXL3