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Gene : ASXL3 Homo sapiens

Name  ? ASXL transcriptional regulator 3 Cytological Location  18q12.1
Brief Description  ASXL transcriptional regulator 3
Description  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]
  • synonyms:
  • HGNC:29357,
  • KIAA1713,
  • OTTHUMG00000178395,
  • additional sex combs like 3, transcriptional regulator,
  • BRPS,
  • ASXL3,
  • additional sex combs like 3 (Drosophila),
  • KIAA1713,
  • AB051500,
  • uc010dmg.2,
  • NM_030632
  • identifiers:
  • 80816,
  • ENSG00000141431,
  • ASXL3

Genome feature

Region: gene ? Length: 172977  
Location: 18:33578219-33751195 Cyto location: 18q12.1

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



0 Pathways

617 SN Ps

5 Cross References

18 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results