Entity Details

Primary name ASXL2
Entity type gene
Source Source Link

Details

PrimaryID55252
RefseqGeneNG_052995
SymbolASXL2
NameASXL transcriptional regulator 2
Chromosome2
Location2p23.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-03-16
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsASXL2_HUMAN

GO terms

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GOName
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0005654 nucleoplasm
GO:0006351 transcription, DNA-templated
GO:0009887 animal organ morphogenesis
GO:0010884 positive regulation of lipid storage
GO:0016579 protein deubiquitination
GO:0035360 positive regulation of peroxisome proliferator activated receptor signaling pathway
GO:0035517 PR-DUB complex
GO:0042975 peroxisome proliferator activated receptor binding
GO:0045600 positive regulation of fat cell differentiation
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046872 metal ion binding

Diseases

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Disease IDSourceNameDescription
617190 OMIMShashi-Pena syndrome (SHAPNS)An autosomal dominant syndrome characterized by delayed psychomotor development, intellectual disability of variable severity, macrocephaly, prominent eyes, arched eyebrows, hypertelorism, a glabellar nevus flammeus, neonatal feeding difficulties, and hypotonia. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures. The disease is caused by variants affecting the gene represented in this entry.