Version: 8.0.0Date: Tue Jan 28 2025
Gene
DAXX
- Species
- Homo sapiens
- Symbol
- DAXX
- Name
- death domain associated protein
- Synonyms
- BING2
- CENP-C binding protein
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including enzyme binding activity; molecular condensate scaffold activity; and transcription coregulator activity. Involved in several processes, including cellular response to diamide; intracellular signal transduction; and regulation of macromolecule metabolic process. Acts upstream of or within regulation of DNA-templated transcription. Located in PML body. Part of chromosome, centromeric region. Is active in nucleus. Implicated in appendiceal neoplasm; islet cell tumor; oral squamous cell carcinoma; ovary epithelial cancer; and pancreatic endocrine carcinoma. Biomarker of carcinoma (multiple); leukemia; neuroendocrine tumor; prostate cancer; and stomach cancer.
- RGD Description
- This gene encodes a multifunctional protein that resides in multiple locations in the nucleus and in the cytoplasm. It interacts with a wide variety of proteins, such as apoptosis antigen Fas, centromere protein C, and transcription factor erythroblastosis virus E26 oncogene homolog 1. In the nucleus, the encoded protein functions as a potent transcription repressor that binds to sumoylated transcription factors. Its repression can be relieved by the sequestration of this protein into promyelocytic leukemia nuclear bodies or nucleoli. This protein also associates with centromeres in G2 phase. In the cytoplasm, the encoded protein may function to regulate apoptosis. The subcellular localization and function of this protein are modulated by post-translational modifications, including sumoylation, phosphorylation and polyubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR12766
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr6:33318558...33323016 - (4.46 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.