DAXX (death domain associated protein)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1616
Gene name Gene Name - the full gene name approved by the HGNC.
Death domain associated protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DAXX
Synonyms (NCBI Gene) Gene synonyms aliases
BING2, DAP6, EAP1, SMIM40
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.32
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 assay, qRT-PCR, Western 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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(50)
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IDA 10504293
GO:0001934 Process Positive regulation of protein phosphorylation IGI 15983381
GO:0002039 Function P53 binding IPI 16845383
GO:0003713 Function Transcription coactivator activity IDA 15016915
GO:0003714 Function Transcription corepressor activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603186 2681 ENSG00000204209
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal
Disease term Disease name dbSNP ID References
Adrenocortical carcinoma Adrenocortical carcinoma rs121912656, rs28934874, rs121912662, rs786202525, rs121912664, rs397516435, rs121913343, rs587780070, rs121912666, rs55832599, rs587782144, rs587782272, rs587782529, rs587782620, rs587782664
View all (30 more)		 24747642
Glioblastoma Glioblastoma rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888
Liver failure Liver Failure rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116
View all (10 more)
Pancreatic cancer Malignant neoplasm of pancreas rs118203998, rs180177143, rs587776417, rs587776527, rs864622498, rs876659571, rs587778587, rs886039619, rs745533713, rs1555460431 21252315
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Heart failure Heart Failure, Right-Sided ClinVar
Show/Hide Text Mining Associations (85)
Associations from Text Mining
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