Entity Details

Primary name ASXL3
Entity type gene
Source Source Link

Details

PrimaryID80816
RefseqGeneNG_055244
SymbolASXL3
NameASXL transcriptional regulator 3
Chromosome18
Location18q12.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-03-21
ModificationDate2021-06-13

Ontological Relatives

UniProt IDsASXL3_HUMAN

GO terms

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GOName
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0006351 transcription, DNA-templated
GO:0009887 animal organ morphogenesis
GO:0035517 PR-DUB complex
GO:0042975 peroxisome proliferator activated receptor binding
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046872 metal ion binding
GO:0051055 negative regulation of lipid biosynthetic process

Diseases

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Disease IDSourceNameDescription
615485 OMIMBainbridge-Ropers syndrome (BRPS)A syndrome characterized by psychomotor retardation, feeding problems, severe postnatal growth retardation in some patients, arched eyebrows, anteverted nares, and ulnar deviation of the hands. The disease is caused by variants affecting the gene represented in this entry.

Interactions

8 interactions

InteractorPartnerSourcesPublicationsLink
ASXL3CLK1BioGRID26167880 details
ASXL3BAP1BioGRID26647312 details
ASXL3NEK4BioGRID, MINT25798074 details
ASXL3TOP1BioGRID, IntAct30021884 details
ASXL3SCDBioGRID, IntAct30021884 details
ASXL3KMT2CBioGRID29785026 details
ASXL3KDM6ABioGRID29785026 details
ASXL3NR3C1BioGRID31182584 details