DAXX (death domain associated protein)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1616
Gene name Death domain associated protein
Gene symbol DAXX
Synonyms (NCBI Gene)
BING2DAP6EAP1SMIM40
Chromosome 6
Chromosome location 6p21.32
Summary 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 erythroblastosi
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs1359674497 TT>-,T Likely-pathogenic Frameshift variant, coding sequence variant
rs1554282793 G>A Likely-pathogenic Missense variant, coding sequence variant, intron variant
rs1554282803 TGAGCCGCTCAATGCGCCTGTTAA>- Likely-pathogenic Coding sequence variant, inframe deletion, intron variant
rs1554283140 AG>- Likely-pathogenic Coding sequence variant, stop gained, intron variant
miRNA miRNA information provided by mirtarbase database.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
miRTarBase ID miRNA Experiments Reference
MIRT005327 hsa-miR-21-5p Luciferase reporter assayqRT-PCRWestern blot 18829576
MIRT046750 hsa-miR-222-3p CLASH 23622248
MIRT923306 hsa-miR-409-3p CLIP-seq
MIRT923307 hsa-miR-4477a CLIP-seq
MIRT923308 hsa-miR-4652-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
64
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (64)
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IDA 10504293
GO:0000775 Component Chromosome, centromeric region IEA
GO:0002039 Function P53 binding IPI 16845383
GO:0003713 Function Transcription coactivator activity IBA
GO:0003713 Function Transcription coactivator activity IDA 15016915
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603186 2681 ENSG00000204209
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UER7
Protein name Death domain-associated protein 6 (Daxx) (hDaxx) (ETS1-associated protein 1) (EAP1) (Fas death domain-associated protein)
Protein function Transcription corepressor known to repress transcriptional potential of several sumoylated transcription factors. Down-regulates basal and activated transcription. Its transcription repressor activity is modulated by recruiting it to subnuclear
PDB 2KQS , 2KZS , 2KZU , 4H9N , 4H9O , 4H9P , 4H9Q , 4H9R , 4H9S , 4HGA , 5GRQ , 5KDM , 5Y18 , 5Y6O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03344 Daxx 48 → 146 Daxx N-terminal Rassf1C-interacting domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence 
MATANSIIVLDDDDEDEAAAQPGPSHPLPNAASPGAEAPSSSEPHGARGSSSSGGKKCYK
LENEKLFEEFLELCKMQTADHPEVVPFLYNRQQRAHSLFLASAEFCNILSRVLSRARSRP
AKLYVYINELCTVLKAHSAKKKLNLAPAATTSNEPSGNNPPTHLSLDPTNAENTASQSPR
TRGSRRQIQRLEQLLALYVAEIRRLQEKELDLSELDDPDSAYLQEARLKRKLIRLFGRLC
ELKDCSSLTGRVIEQRIPYRGTRYPEVNRRIERLINKPGPDTFPDYGDVLRAVEKAAARH
SLGLPRQQLQLMAQDAFRDVGIRLQERRHLDLIYNFGCHLTDDYRPGVDPALSDPVLARR
LRENRSLAMSRLDEVISKYAMLQDKSEEGERKKRRARLQGTSSHSADTPEASLDSGEGPS
GMASQGCPSASRAETDDEDDEESDEEEEEEEEEEEEEATDSEEEEDLEQMQEGQEDDEEE
DEEEEAAAGKDGDKSPMSSLQISNEKNLEPGKQISRSSGEQQNKGRIVSPSLLSEEPLAP
SSIDAESNGEQPEELTLEEESPVSQLFELEIEALPLDTPSSVETDISSSRKQSEEPFTTV
LENGAGMVSSTSFNGGVSPHNWGDSGPPCKKSRKEKKQTGSGPLGNSYVERQRSVHEKNG
KKICTLPSPPSPLASLAPVADSSTRVDSPSHGLVTSSLCIPSPARLSQTPHSQPPRPGTC
KTSVATQCDPEEIIVLSDSD
Sequence length 740
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  MAPK signaling pathway
Apoptosis
Parkinson disease
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases
Herpes simplex virus 1 infection 		  SUMOylation of transcription cofactors
Regulation of TP53 Degradation
HCMV Early Events
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neuroendocrine pancreatic tumor - rs1359674497, rs1554283140, rs1554282793, rs1554282803 RCV004813286
RCV004813284
RCV004813281
RCV004813279
Show/Hide Text Mining Associations (85)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Retroviral Syndrome Associate 26566030
Adenocarcinoma Associate 31374064
Adrenocortical Carcinoma Associate 25078331
alpha Thalassemia Associate 29669917
Alternating hemiplegia of childhood Associate 26891131, 27578458, 27663587, 28115389, 30423196, 35227290
Aortic Aneurysm Abdominal Associate 31885343
Arthritis Rheumatoid Associate 17360386
ATR X syndrome Associate 12953102, 14990586, 21252315, 31628488
Bloom Syndrome Associate 10525530
Bone Diseases Metabolic Associate 25659073