Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways
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

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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

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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

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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
GO:0003714	Function	Transcription corepressor activity	IBA
GO:0003714	Function	Transcription corepressor activity	IDA	12140263
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0003714	Function	Transcription corepressor activity	IMP	17081986
GO:0005515	Function	Protein binding	IPI	9215629, 9743501, 10669754, 10698492, 11003656, 11112409, 11483955, 11495919, 11799127, 11948183, 12140263, 12529400, 12953102, 14517282, 14557665, 15016915, 15033475, 15364927, 15572661, 15983381, 16331268, 16569639, 16810318, 16845383, 17362989, 18566590, 18583933, 20185822, 20195
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	15572661
GO:0005634	Component	Nucleus	IDA	15878163, 15983381, 17081986
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	10698492
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	ISS
GO:0006325	Process	Chromatin organization	IEA
GO:0006334	Process	Nucleosome assembly	IBA
GO:0006334	Process	Nucleosome assembly	IDA	20504901, 20651253
GO:0006338	Process	Chromatin remodeling	IDA	20651253
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	15878163
GO:0006915	Process	Apoptotic process	IEA
GO:0007254	Process	JNK cascade	IDA	9215629
GO:0008625	Process	Extrinsic apoptotic signaling pathway via death domain receptors	IDA	9215629
GO:0010468	Process	Regulation of gene expression	IDA	10698492
GO:0010629	Process	Negative regulation of gene expression	IDA	10698492
GO:0016604	Component	Nuclear body	IDA
GO:0016605	Component	PML body	IBA
GO:0016605	Component	PML body	IDA	10669754, 18566590
GO:0016605	Component	PML body	IEA
GO:0016605	Component	PML body	TAS	15247905
GO:0019899	Function	Enzyme binding	IPI	16845383
GO:0019901	Function	Protein kinase binding	IPI	15983381
GO:0030295	Function	Protein kinase activator activity	IGI	15983381
GO:0030521	Process	Androgen receptor signaling pathway	IDA	15572661
GO:0031072	Function	Heat shock protein binding	TAS	15572661
GO:0031396	Process	Regulation of protein ubiquitination	IDA	18566590
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	16845383
GO:0034605	Process	Cellular response to heat	IDA	15016915
GO:0034620	Process	Cellular response to unfolded protein	IDA	15016915
GO:0036480	Process	Neuron intrinsic apoptotic signaling pathway in response to oxidative stress	IGI	15983381
GO:0042393	Function	Histone binding	IBA
GO:0042393	Function	Histone binding	IDA	12140263, 20211137, 20504901
GO:0042393	Function	Histone binding	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	10698492
GO:0042981	Process	Regulation of apoptotic process	IBA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IBA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12140263, 15572661
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0050681	Function	Nuclear androgen receptor binding	IBA
GO:0050681	Function	Nuclear androgen receptor binding	IPI	15572661
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IDA	10698492
GO:0071276	Process	Cellular response to cadmium ion	IDA	15016915
GO:0071280	Process	Cellular response to copper ion	IDA	15016915
GO:0072738	Process	Cellular response to diamide	IDA	15016915
GO:0140416	Function	Transcription regulator inhibitor activity	IDA	10698492, 15572661
GO:0140693	Function	Molecular condensate scaffold activity	EXP	30244836
GO:1903936	Process	Cellular response to sodium arsenite	IDA	15016915

MIM	HGNC	e!Ensembl
603186	2681	ENSG00000204209

Protein

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

	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

DAXX (death domain associated protein)