DAXX - death domain associated protein Gene

Homo sapiens

Also known as DAP6; EAP1; BING2; SMIM40

Gene ID: 1616 | Gene type: protein coding

About DAXX

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:33,318,558-33,322,959 (from NCBI)

This gene has 11 transcripts (splice variants), 1 gene allele, 189 orthologues and is associated with 83 phenotypes. Ubiquitous expression in testis (RPKM 26.2), lymph node (RPKM 25.5) and 25 other tissues.

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 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]

DAXX Products(4)

mRNA	Protein	Name
NM_001141969.2	NP_001135441.1	death domain-associated protein 6 isoform a
NM_001141970.2	NP_001135442.1	death domain-associated protein 6 isoform b
NM_001254717.2	NP_001241646.1	death domain-associated protein 6 isoform c
NM_001350.5	NP_001341.1	death domain-associated protein 6 isoform a

DAXX Protein Structure

Daxx

0
200
400
600
740 a.a.

Protein Preferred Names

Protein Names

death domain-associated protein 6

CENP-C binding protein

Related Diseases

Diseases

Alias

Gastric Neuroendocrine Neoplasm

Gastric Neuroendocrine Tumor	Neuroendocrine Tumor Of The Stomach
Neuroendocrine Tumor Of Stomach	Gnet
Gastric Net	Net Of Stomach

Alpha-Thalassemia

Alpha Thalassemia	Alpha Thalassaemia
Alpha Plus Thalassemia	Thalassemia, Alpha-
Thalassemias, Alpha-	A-Thalassemia
Α-Thalassemia	A-THAL
Thalassemia	Alpha Thalassaemia Syndrome

Alpha-Thalassemia Myelodysplasia Syndrome

ATMDS	Acquired Hemoglobin H Disease
Alpha-Thalassemia Myelodysplasia Syndrome, Somatic	Acquired Hbh Disease
Alpha-Thalassemia-Myelodysplastic Syndrome	Hemoglobin H Disease, Acquired
Acquired Alpha-Thalassemia With Myelodysplastic Syndrome	Hemoglobin H Disease Acquired
Thalassemia, Alpha, Myelodysplasia Syndrome, Somatic

Glottis Squamous Cell Carcinoma

Epidermoid Carcinoma Of The Glottis

Squamous Cell Carcinoma Of Glottis

Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Atr-X Syndrome	Atr, Nondeletion Type
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome	Atrx Syndrome
Alpha-Thalassemia/Mental Retardation Syndrome Nondeletion Type	Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked
X-Linked Alpha-Thalassemia/Intellectual Disability Syndrome	Xlmr Hypotonic Face Syndrome
Alpha Thalassemia X-Linked Intellectual Disability Syndrome	Alpha Thalassemia X-Linked Mental Retardation Syndrome
Alpha Thalassemia/Mental Retardation, X-Linked	Alpha-Thalassemia X-Linked Mental Retardation Syndrome
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type	X-Linked Alpha-Thalassemia/Mental Retardation Syndrome
Xlmr-Hypotonic Face Syndrome	Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked

Thalassemia

Sickle-Cell Thalassemia With Crisis	Sickle-Cell Thalassemia Without Crisis
Thalassemia Hb-S Disease With Crisis	Thalassemia Hb-S Disease Without Crisis
Thalassemias	Hereditary Leptocytosis
Haemoglobin Thalassaemia Disorder	Thalassaemia Syndrome
Thalassaemia Nos	Thalassemia Variants

Pancreatic Endocrine Carcinoma

Carcinoma Of Endocrine Pancreas	Islet Cell Carcinoma
Malignant Neoplasm Of Islets Of Langerhans	Pancreatic Neuroendocrine Carcinoma
Carcinoma Islet Cell	Carcinoma, Islet Cell

Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Alpha Thalassemia-Intellectual Disability Syndrome, Deletion Type	Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Atr Syndrome Linked To Chromosome 16	Atr Syndrome, Deletion Type
Atr-16 Syndrome	Alpha Thalassemia-Retardation Syndrome
Alpha-Thalassemia/Mental Retardation Syndrome, Deletion-Type	Alpha-Thalassemia/Mental Retardation Syndrome, Type 1
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type

Islet Cell Tumor

Pancreatic Neuroendocrine Tumor	Neuroendocrine Tumor Of Pancreas
Pnet	Pancreatic Net
Pancreatic Endocrine Tumor	Well-Differentiated Nen Of Pancreas
Well-Differentiated Neuroendocrine Neoplasm Of Pancreas	Well-Differentiated Pancreatic Nen
Well-Differentiated Pancreatic Neuroendocrine Neoplasm	Endocrine Pancreas Cancer
Islet Cell Neoplasm	Islet Cell Tumour
Malignant Pancreatic Endocrine Tumor	Malignant Pancreatic Endocrine Tumour
Malignant Tumor Of Endocrine Pancreas	Malignant Tumour Of Endocrine Pancreas
Pancreatic Endocrine Neoplasm	Pancreatic Neuroendocrine Neoplasm
Adenoma, Islet Cell	Well Differentiated Pancreatic Endocrine Tumor
Malignant Neoplasm Of Endocrine Pancreas	Pancreatic Endocrine Carcinoma

Cutis Laxa, Autosomal Dominant 1

Cutis Laxa, Autosomal Dominant	Autosomal Dominant Cutis Laxa
ADCL1	Adcl
Autosomal Dominant Cutis Laxa 1	Cutis Laxa, Autosomal Dominant, 1
Cutis Laxa, Autosomal Dominant, Type 1

Multiple Endocrine Neoplasia, Type I

Multiple Endocrine Neoplasia Type 1	MEN1
Wermer Syndrome	Multiple Endocrine Neoplasia 1
Multiple Endocrine Neoplasia, Type 1	Men I
Endocrine Adenomatosis, Multiple	Mea I
Men Type I	Wermer'S Syndrome
Men1 Syndrome	Multiple Endocrine Adenomatosis
Endocrine Adenomatosis Multiple	Men 1
Familial Multiple Endocrine Neoplasia Type I	Neoplasia, Endocrine, Multiple, Type 1
Multiple Endocrine Neoplasia

Diffuse Midline Glioma, H3 K27m-Mutant

Diffuse Intrinsic Pontine Glioma	Dipg
Infiltrative Brainstem Glioma

Von Hippel-Lindau Syndrome

Von Hippel-Lindau Disease	Vhl
Vhl Syndrome	VHLS
Von Hippel-Lindau Syndrome, Modifier Of	Hippel Lindau Syndrome
Angiomatosis Retinae	Cerebelloretinal Angiomatosis, Familial
Hippel-Lindau Disease	Familial Cerebelloretinal Angiomatosis
Lindau Disease	VHLD

Hemolytic Anemia

Anemia, Hemolytic	Anemia Hemolytic
Anaemia Due To Other Disorders Of Glutathione Metabolism	Chronic Non Spherocytic Anaemia
G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia	Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia	Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia
Favism Anaemia	Haemolytic Anaemia Due Tog6pd Deficiency
Favism	Pentose Phosphate Pathway Disorder Anaemia
Anaemia Due To Pentose Phosphate Pathway Defect

Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic	Acute Myeloblastic Leukemia Type 3
Aml M3	APL
Leukemia, Acute Promyelocytic, Somatic	Aml With T(15
17)(Q22	Q12)
(Pml/Raralpha) And Variants	Apml
Acute Myeloblastic Leukemia 3	Acute Myeloid Leukemia With T(15
17)(Q22	Q12)
(Pml/Raralpha) And Variants	Acute Myeloblastic Leukaemia Type 3
Acute Myeloid Leukaemia M3	Acute Myeloid Leukemia M3
Acute Promyelocytic Leukaemia	M3 Anll
Myeloid Leukemia, Acute, M3	Leukemia Promyelocytic Acute
Leukemia, Promyelocytic, Acute	Leukemia, Acute, Promyelocytic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03535	DAXX Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	DAXX	VGNC	VGNC:39777
Rattus norvegicus	DAXX	RGD	RGD:621227
Bos taurus	DAXX	VGNC	VGNC:27884
Macaca mulatta	DAXX	VGNC	VGNC:71737
Mus musculus	DAXX	MGD	MGI:1197015