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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 nameGene Name - the full gene name approved by the HGNC.
Death domain associated protein
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
DAXX
SynonymsGene synonyms aliases
BING2, DAP6, EAP1, SMIM40
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.32
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
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 IDsOther 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
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
Sequence 
MATANSIIVLDDDDEDEAAAQPGPSHPLPNAASPGAEAPSSSEPHGARGSSSSGGKKCYK
LENEKLFEEFLELCKMQTADHPEVVPFLYNRQQRAHSLFLASAEFCNILSRVLSRARSRP
AKLYVYINELCTVLKAHSAKKKLNLAPAATTSNEPSGNNPPTHLSLDPTNAENTASQSPR
TRGSRRQIQRLEQLLALYVAEIRRLQEKELDLSELDDPDSAYLQEARLKRKLIRLFGRLC
ELKDCSSLTGRVIEQRIPYRGTRYPEVNRRIERLINKPGPDTFPDYGDVLRAVEKAAARH
SLGLPRQQLQLMAQDAFRDVGIRLQERRHLDLIYNFGCHLTDDYRPGVDPALSDPVLARR
LRENRSLAMSRLDEVISKYAMLQDKSEEGERKKRRARLQGTSSHSADTPEASLDSGEGPS
GMASQGCPSASRAETDDEDDEESDEEEEEEEEEEEEEATDSEEEEDLEQMQEGQEDDEEE
DEEEEAAAGKDGDKSPMSSLQISNEKNLEPGKQISRSSGEQQNKGRIVSPSLLSEEPLAP
SSIDAESNGEQPEELTLEEESPVSQLFELEIEALPLDTPSSVETDISSSRKQSEEPFTTV
LENGAGMVSSTSFNGGVSPHNWGDSGPPCKKSRKEKKQTGSGPLGNSYVERQRSVHEKNG
KKICTLPSPPSPLASLAPVADSSTRVDSPSHGLVTSSLCIPSPARLSQTPHSQPPRPGTC
KTSVATQCDPEEIIVLSDSD
Sequence length 740
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Adrenocortical carcinoma Adrenocortical carcinoma rs121912656, rs28934874, rs121912662, rs786202525, rs121912664, rs397516435, rs121913343, rs587780070, rs121912666, rs55832599, rs587782144, rs587782272, rs587782529, rs587782620, rs587782664, rs587782705, rs193920817, rs55863639, rs730882029, rs730882005, rs730882025, rs730881999, rs786201838, rs786202962, rs863224451, rs863224499, rs760043106, rs11540652, rs11540654, rs876658483, rs587781525, rs1057519986, rs1057519989, rs530941076, rs1060501197, rs1064792930, rs1064794618, rs1131691042, rs1555526131, rs1057519990, rs1555526097, rs1567554500, rs1131691039, rs1202793339, rs769697802 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, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Pancreatic cancer Malignant neoplasm of pancreas rs118203998, rs180177143, rs587776417, rs587776527, rs864622498, rs876659571, rs587778587, rs886039619, rs745533713, rs1555460431, rs200612497 21252315
Unknown
Disease name Disease term dbSNP ID References
Anorexia Anorexia
Bronchospasm Bronchospasm
Heart failure Heart Failure, Right-Sided rs121918074, rs142027794, rs148791216, rs72648927, rs71578935, rs142416150, rs199830512, rs755445214, rs150102469, rs779568205, rs907992794, rs1202130741
Iron deficiency anemia Iron deficiency anemia

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