ATRX - ATRX chromatin remodeler Gene

Also Known as JMS; XH2; XNP; MRX52; RAD54; RAD54L; ZNF-HX

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 546

About ATRX

Cytogenetic location: Xq21.1 Genomic coordinates (GRCh38): X:77,504,880-77,786,216 (from NCBI)

This gene has 25 transcripts (splice variants), 255 orthologues, 30 paralogues and is associated with 166 phenotypes. Ubiquitous expression in brain (RPKM 12.1), endometrium (RPKM 9.2) and 25 other tissues.

Summary

The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in Mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017]

ATRX Products (2)

mRNA	Protein	Name
NM_000489.6	NP_000480.3	transcriptional regulator ATRX isoform 1
NM_138270.5	NP_612114.2	transcriptional regulator ATRX isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA translocase activity	IDA IDA: Inferred from direct assay	12953102	GOA
enables chromatin binding	IDA IDA: Inferred from direct assay	27029610	GOA
enables chromo shadow domain binding	IPI IPI: Inferred from physical interaction	15882967	GOA
enables histone binding	IDA IDA: Inferred from direct assay	20211137	GOA
enables methylated histone binding	IDA IDA: Inferred from direct assay	21421568	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10699177	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in chromatin organization	IMP IMP: Inferred from mutant phenotype	22391447	GOA
involved in chromatin remodeling	IDA IDA: Inferred from direct assay	20651253	GOA
involved in chromatin remodeling	IMP IMP: Inferred from mutant phenotype	10742099	GOA
involved in negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric	IMP IMP: Inferred from mutant phenotype	26373281	GOA
involved in nucleosome assembly	IDA IDA: Inferred from direct assay	20651253	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	22391447	GOA
involved in subtelomeric heterochromatin formation	IMP IMP: Inferred from mutant phenotype	26055325	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in chromosome, subtelomeric region	IDA IDA: Inferred from direct assay	26055325	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATRX Protein Structure

SNF2_N

Helicase_C

0
400
800
1200
1600
2000
2492 a.a.

Protein Preferred Names	Protein Names
transcriptional regulator ATRX	ATP-dependent helicase ATRX

ATRX Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ATRX	P46100	RAD50	Homo sapiens	Q92878	Anti Bait CoIP	24651726
Intra	ATRX	P46100	RAD50	Homo sapiens	Q92878	IF	24651726
Intra	ATRX	P46100	EZH2	Homo sapiens	Q15910	Anti Bait CoIP	25417162
Intra	ATRX	P46100	EZH2	Homo sapiens	Q15910	Anti Tag CoIP	25417162
Intra	ATRX	P46100	DAXX	Homo sapiens	Q9UER7	Anti Bait CoIP	24651726
Intra	ATRX	P46100	DAXX	Homo sapiens	Q9UER7	Anti Bait CoIP	22102817
Intra	ATRX	P46100	DAXX	Homo sapiens	Q9UER7	GMS	12953102
Intra	ATRX	P46100	CBX5	Homo sapiens	P45973	Anti Bait CoIP	10699177

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Sfms Holmes-Gang Syndrome MRXHF1 Smith-Fineman-Myers Syndrome 1 Sfm1 Xlmr-Hypotonic Facies Syndrome Carpenter-Waziri Syndrome Chudley-Lowry Syndrome Intellectual Disability-Hypotonic Facies Syndrome, X-Linked X-Linked Mental Retardation-Hypotonic Facies Syndrome-1 Smith-Fineman-Myers Syndrome Juberg-Marsidi Syndrome Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 Cws Intellectual Disability X-Linked With Growth Retardation Deafness And Microgenitalism Jms Mental Retardation Smith Fineman Myers Type
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked	Atr-X Syndrome ATRX Alpha-Thalassemia/Mental Retardation Syndrome Atr-X Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type Atr, Nondeletion Type Alpha-Thalassemia Mental Retardation Syndrome X-Linked Alpha Thalassemia Mental Retardation Syndrome Alpha-Thalassemia/Intellectual Disability Syndrome, X-Linked Atr Nondeletion Type Thalassemia, Alpha/Mental Retardation Syndrome Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked Alpha Thalassemia-Mental Retardation Syndrome
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
High-Grade Astrocytoma
Malignant Astrocytoma	Astrocytic Tumor Astrocytoma Of Brain Astrocytoma Of Cerebrum Astroglioma Cerebral Astrocytoma Astrocytoma
Anaplastic Astrocytoma	Grade Iii Astrocytoma Astrocytoma, Anaplastic Grade Iii Astrocytic Tumor
Atypical Teratoid Rhabdoid Tumor	Rhabdoid Tumor Predisposition Syndrome Rtps Atypical Teratoid/Rhabdoid Tumor Rhabdoid Predisposition Syndrome Familial Posterior Fossa Brain Tumor Of Infancy Familial Rhabdoid Tumor At/Rt Atypical Teratoid Rhabdoid Tumour Atypical Teratoid/Rhabdoid Tumour Rhabdoid Tumor Of The Cns Rhabdoid Tumour Of The Cns Familial Posterior Fossa Brain Tumor Syndrome Hereditary Swi/Snf Deficiency Syndrome Atrt
Osteogenic Sarcoma	Osteosarcoma OSRC Osteosarcoma, Somatic Neoplasms, Bone Tissue Bone Tissue Neoplasm Osteoid Sarcoma Skeletal Sarcoma Osteosarcoma Of Bone Bone Sarcoma
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes
Bone Osteosarcoma	Osteosarcoma Of Bone Primary Osteosarcoma Of Bone
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
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
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome
Gastric Neuroendocrine Neoplasm	Gastric Neuroendocrine Tumor Neuroendocrine Tumor Of The Stomach Neuroendocrine Tumor Of Stomach Gnet Gastric Net Net Of Stomach
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Juberg-Marsidi Syndrome Jms Brooks-Wisniewski-Brown Syndrome MRXST Mental Retardation, X-Linked, Syndromic, Turner Type Mrxsbwb Mental Retardation And Macrocephaly Syndrome Mental Retardation, X-Linked, With Growth Retardation, Deafness, And Microgenitalism Mental Retardation, X-Linked, Syndromic, Brooks-Wisniewski-Brown Type Intellectual Developmental Disorder, X-Linked Syndromic, Turner Type Brooks Wisniewski Brown Syndrome X-Linked Intellectual Disability Brooks Type Juberg Marsidi Syndrome Intellectual Disability, X-Linked With Growth Delay, Deafness, Microgenitalism Intellectual Disability, X-Linked, With Growth Retardation, Deafness, And Microgenitalism Juberg-Marsidi Intellectual Disability Syndrome X-Linked Hypogonadism Gynecomastia Intellectual Disability X-Linked Intellectual Disability-Hypotonic Facies Syndrome 1
Diffuse Astrocytoma	Diffuse Astrocytoma, Low Grade Who Grade Ii Astrocytoma Fibrillary Astrocytoma Gemistocytic Astrocytoma Low-Grade Diffuse Astrocytoma Protoplasmic Astrocytoma
Mixed Oligodendroglioma-Astrocytoma	Who Grade Ii Mixed Glioma
Adult Brainstem Astrocytoma	Adult Brain Stem Astrocytoma
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Idh-Wildtype Glioblastoma
Pleomorphic Xanthoastrocytoma	Pxa Pleomorphic Xantho-Astrocytoma
Adult Astrocytic Tumour	Adult Astrocytoma Adult Astrocytic Tumors
Childhood Osteosarcoma	Pediatric Osteosarcoma
Astrocytoma, Idh-Mutant, Grade 4	Idh-Mutant Glioblastoma
Choroid Plexus Cancer	Choroid Plexus Carcinoma Choroid Plexus Neoplasms Choroid Plexus Neoplasm Tumor Of Choroid Plexus Tumor Of The Choroid Plexus Choroid Plexus Tumor Choroid Plexus Tumors Anaplastic Choroid Plexus Papilloma Choroid Plexus Papilloma Nos Papilloma Of Choroid Plexus Plexus Choroideus Papilloma Choroid Plexus Papilloma In Fourth Ventricle Plexus Choroideus Papilloma In Fourth Ventricle
Anaplastic Pleomorphic Xanthoastrocytoma
Diffuse Glioma, H3 G34 Mutant
Brain Stem Astrocytic Neoplasm	Brainstem Astrocytoma Astrocytoma Of Brain Stem
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Gonadal Dysgenesis	Gonadal Dysgenesis Syndrome Turner Syndrome
Low Grade Glioma	Benign Glioma
Spinal Cord Astrocytoma	Astrocytoma Of Spinal Cord Spinal Astrocytoma
Adult Brain Stem Glioma	Adult Brainstem Neuroglial Tumor
Leiomyosarcoma	Leiomyosarcomas
Paraganglioma	Chemodectoma Glomus Body Tumor Paragangliomas Carotid Body Paraganglioma Extra-Adrenal Paraganglioma
Brain Glioma	Lower Grade Glioma Intracranial Glioma Glioma Nos
Childhood Oligodendroglioma	Pediatric Oligodendroglioma Oligodendroglioma, Childhood
Central Nervous System Benign Neoplasm	Benign Neoplasm Of The Central Nervous System
Mixed Glioma	Mixed Gliomas Mixed Neuroglial Tumor Glioma
Idh-Mutant Anaplastic Astrocytoma
Spinal Cord Disease	Spinal Cord Diseases Myelopathy Bone Marrow Diseases
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
Spinal Cord Oligodendroglioma	Oligodendroglioma Of Spinal Cord Well Differentiated Spinal Cord Oligodendroglioma
Rett Syndrome	Atypical Rett Syndrome RTT Rett Disorder Rts Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use Rett Syndrome, Preserved Speech Variant Rett Syndrome, Atypical Rett'S Disorder Rett Syndrome Variant Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome Cerebroatrophic Hyperammonemia Rett Like Syndrome Rett'S Syndrome Atypical Rtt Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Rett Syndrome Preserved Speech Variant Rett Syndrome Zappella Variant Rett Syndrome, Zappella Variant
Spinal Cord Glioma	Glial Tumor Of Spinal Cord Glial Neoplasm Spinal Cord Glioma Of Spinal Cord
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
Gemistocytic Astrocytoma	Gemistocytic Astrocytic Tumor
Hemoglobin H Disease	HBH Hemoglobin H Disease, Nondeletional Hemoglobin H Disease, Deletional Alpha-Thalassemia Intermedia Haemoglobin H Disease Alpha-Thalassemia, Hemoglobin H Type Hemoglobin H Disease, Deletional And Nondeletional Alpha Thalassemia, Haemoglobin H Type Alpha Thalassemia, Hemoglobin H Type Haemoglobin H Disease, Deletional Hbh Disease Alpha-Thalassemia Hemoglobin H Type Hemoglobin H Disease Deletional Hemoglobin H Disease Non-Deletional Alpha-Thalassemia Alpha - /- - Or Mutational Forms Of Alpha-Thalassaemia Alpha Thalassaemia Intermedia
Histone Mutated Tumor	Histone Mutated Tumour
Tatton-Brown-Rahman Syndrome	TBRS Dnmt3a Overgrowth Syndrome Tatton-Brown-Rahman Overgrowth Syndrome Dos Dnmt3a-Related Overgrowth Syndrome Doid:0112339 Dose
Idh-Wildtype Anaplastic Astrocytoma
Diffuse Midline Glioma, H3 K27m-Mutant	Diffuse Intrinsic Pontine Glioma Dipg Infiltrative Brainstem Glioma
Adult Oligodendroglioma	Adult Brain Oligodendroglioma Grade Ii Adult Oligodendroglial Tumor Oligodendroglioma, Adult
Atypical Choroid Plexus Papilloma	Atypical Papilloma Of Choroid Plexus Atypical Cpp
Gliomatosis Cerebri	Astrocytosis Cerebri Neoplasms, Neuroepithelial
Anaplastic Oligodendroglioma
Spinal Cancer	Spinal Cord Neoplasm Spinal Cord Neoplasms Spinal Neoplasms Intraspinal Tumor Malignant Tumor Of The Spinal Cord Spinal Cord Cancer Spinal Neoplasm Tumor Of The Spinal Cord Tumors Spinal Cord Intraspinal Neoplasm Spinal Cord--Cancer
Astroblastoma	Cerebral Astroblastoma
Cerebral Ventricle Cancer	Cerebral Ventricle Neoplasms Cerebral Ventricle Neoplasm Intraventricular Tumor Of Brain
Brain Stem Cancer	Brain Stem Neoplasms Malignant Neoplasm Of Brain Stem Malignant Neoplasm Of Brainstem Neoplasm Of Adult Brain Stem Neoplasm Of Brain Stem Primary Brain Stem Neoplasm Primary Brain Stem Tumor Brain Stem Neoplasm Brain Stem--Cancer Brain Stem Neoplasms, Primary
High Grade Ependymoma	Ependymal Neoplasm Ependymal Tumors Malignant Ependymoma Ependymal Tumor Anaplastic Ependymoma Experimental Organism Malignant Ependymoma Ependymoma Of Brain
Dysembryoplastic Neuroepithelial Tumor	Dysembryoplastic Neuroepithelial Tumour Dysembryoplastic Neuroepithelial Neoplasm Dnet
Cerebrum Cancer	Cerebral Cancer Neoplasm Of Cerebrum Tumor Of Cerebrum Malignant Neoplasm Of Cerebrum
Pilomyxoid Astrocytoma
Pheochromocytoma	Pheochromocytoma, Susceptibility To Phaeochromocytoma Adrenal Gland Chromaffin Paraganglioma Adrenal Gland Chromaffinoma Adrenal Gland Paraganglioma Adrenal Gland Pheochromocytoma Chromaffin Paraganglioma Of The Adrenal Gland Intraadrenal Paraganglioma PCC Chromaffin Cell Tumor Medullary Chromaffinoma Medullary Paraganglioma Pheochromoblastoma Pheochromocytomas Chromaffin Cell Neoplasm Pheochromocytoma, Malignant
Supratentorial Cancer	Supratentorial Neoplasms Brain Neoplasm, Supratentorial Malignant Supratentorial Tumor Cancer, Supratentorial
Supratentorial Ependymoma
Syndromic X-Linked Intellectual Disability Nascimento Type	Mental Retardation, X-Linked Syndromic, Nascimento-Type X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome
Multiple Enchondromatosis, Maffucci Type	Maffucci Syndrome Chondrodysplasia With Hemangioma Chondroplasia Angiomatosis Enchondromatosis With Hemangiomata Hemangiomatosis Chondrodystrophica Kast Syndrome Multiple Angiomas And Endochondromas Dyschondrodysplasia With Hemangiomas Enchondromatosis Type Ii Enchondromatosis With Multiple Cavernous Hemangiomas Dyschondroplasia And Cavernous Hemangioma Hemangiomata With Dyschondroplasia
Pilocytic Astrocytoma	Juvenile Pilocytic Astrocytoma Grade I Astrocytic Tumor Piloid Astrocytoma
Coffin-Lowry Syndrome	CLS Coffin Syndrome 1 Coffin Syndrome Intellectual Disability With Osteocartilaginous Abnormalities Dwarfism, Lean Spastic Type Lean Spastic Dwarfism Mental Retardation With Osteocartilaginous Abnormalities Coffin Lowry Syndrome
Benign Ependymoma	Ependymoma Epithelial Ependymoma Who Grade Ii Ependymal Tumor Myxopapillary Ependymoma
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
Floating-Harbor Syndrome	FLHS Fhs Pelletier-Leisti Syndrome Short Stature With Delayed Bone Age, Expressive Language Delay, A Triangular Face With A Prominent Nose And Deep-Set Eyes Leisti-Hollander-Rimoin Syndrome
Subependymal Glioma	Mixed Subependymoma-Ependymoma Subependymal Astrocytoma Who Grade I Ependymal Tumor Glioma, Subependymal
Non-Syndromic X-Linked Intellectual Disability 93	Mrx93 X-Linked Mental Retardation With Macrocephaly
Rela Fusion-Positive Ependymoma	Supratentorial C11orf95-Rela Fused Ependymoma C11orf95 Fusion-Positive Supratentorial Ependymoma
Helsmoortel-Van Der Aa Syndrome	HVDAS Mrd28 Adnp Syndrome Adnp-Related Syndromic Intellectual Disability-Autism Spectrum Disorder Mental Retardation, Autosomal Dominant 28 Adnp-Related Multiple Congenital Anomalies - Intellectual Disability - Autism Spectrum Disorder Mental Retardation, Autosomal Dominant 28, Formerly Mrd28, Formerly Autosomal Dominant Mental Retardation 28 Adnp-Related Intellectual Disability And Autism Spectrum Disorder Adnp-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	Icf Syndrome Immunodeficiency Syndrome, Variable Ciid Centromeric Instability, Immunodeficiency Syndrome Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16 Icf
Enchondromatosis, Multiple, Ollier Type	Ollier Disease Enchondromatosis Dyschondroplasia Osteochondromatosis Multiple Cartilaginous Enchondroses Multiple Enchondromatosis Enchondromatosis With Haemangiomata Enchondromatosis, Multiple Kast'S Syndrome Ollier'S Syndrome Enchondromatosis Multiple ENCHOM Maffucci Disease Olliers Disease Hereditary Multiple Exostoses Chondromatosis
Giant Cell Glioblastoma	Monstrocellular Sarcoma
Specific Developmental Disorder
Weaver Syndrome	Wss Weaver-Smith Syndrome WVS Weaver-Like Syndrome Weaver-Williams Syndrome Camptodactyly-Overgrowth-Unusual Facies Syndrome Camptodactyly - Overgrowth - Unusual Facies Ezh2 Related Overgrowth Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly Weaver Smith Syndrome Weaver Like Syndrome Weaver Williams Syndrome Camptodactyly-Overgrowth-Unusual Facies Weaver Syndrome 1 Weaver Syndrome 2 Wvs1 Wvs2
Temporal Lobe Neoplasm	Neoplasm Of Temporal Lobe Malignant Neoplasm Of Temporal Lobe Tumor Of Temporal Lobe
Neuroblastoma	Nb Neuroblastoma, Susceptibility To Neuroblastomas Central Neuroblastoma
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
Myxofibrosarcoma	Fibromyxosarcoma Fibromyxoid Sarcoma Myxoid Malignant Fibrous Histiocytoma Dermatofibrosarcoma Protuberans, Myxoid
Dedifferentiated Liposarcoma	Ddls Liposarcoma Dedifferentiated Liposarcoma, Dedifferentiated
Primary Hyperoxaluria	Hyperoxaluria Hyperoxaluria, Primary Oxalosis Primary Oxalosis Congenital Oxaluria D-Glycerate Dehydrogenase Deficiency Glyceric Aciduria Glycolic Aciduria Hepatic Agt Deficiency Oxaluria, Primary Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency Primary Oxaluria Hyperoxaluria Primary Primary Hyperoxaluria Type 2 Primary Hyperoxaluria, Type I
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
Infratentorial Cancer	Infratentorial Neoplasms Brain Neoplasm, Infratentorial Malignant Infratentorial Tumors
Gliosarcoma	Glioblastoma With Sarcomatous Component Sarcomatous Glioblastoma
Li-Fraumeni Syndrome	Sarcoma Family Syndrome Of Li And Fraumeni Sbla Syndrome LFS Li-Fraumeni Familiar Cancer Susceptibility Syndrome Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome Lfs1 Li Fraumeni Syndrome Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome Lfl Sbla Syndrome Li-Fraumeni-Like Syndrome Li-Fraumeni Syndrome 1
Parkinson Disease 2, Autosomal Recessive Juvenile	Young-Onset Parkinson Disease PARK2 Pdj Autosomal Recessive Juvenile Parkinson Disease 2 Epdf Parkinson Disease, Juvenile, Type 2 Parkinson'S Disease 2 Autosomal Recessive Juvenile Parkinson Disease Early-Onset Parkinson Disease Parkinson Disease 2 Parkinson Disease, Juvenile, Autosomal Recessive Parkinsonism, Early-Onset, With Diurnal Fluctuation Autosomal Recessive Juvenile Parkinson'S Disease 2 Jp Juvenile Parkinsonism Parkinson Disease Autosomal Recessive, Early Onset Parkinsonism, Early Onset, With Diurnal Fluctuation Yopd Autosomal Recessive Early-Onset Parkinson Disease Type 2 Chromosome 6-Linked Autosomal Recessive Parkinsonism Early-Onset Parkinsonism With Diurnal Fluctuation Parkinsonism Young Adult Onset Parkinson Disease, Type 2 Parkinsonism, Juvenile
Sotos Syndrome	Cerebral Gigantism SOTOS Chromosome 5q35 Deletion Syndrome Sotos Syndrome 1, Formerly Sotos1, Formerly Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development Sotos Sequence Sotos' Syndrome Sotos1 Sotos Syndrome 1
Cornelia De Lange Syndrome	De Lange Syndrome Brachmann De Lange Syndrome Brachmann-De Lange Syndrome Cdls Bdls Typus Degenerativus Amstelodamensis
Syndromic Intellectual Disability
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Hereditary Breast Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer Breast And/Or Ovarian Cancer Breast And Ovarian Cancer Syndrome Hboc Syndrome Hereditary Breast And Ovarian Cancer Brca1- Brca2-Associated Hboc
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Meningioma, Familial	Meningioma Familial Meningioma Meningioma, Familial, Susceptibility To Meningeal Neoplasm Meningeal Neoplasms Meningiomas Meningioma, Nf2-Related, Somatic Meningioma, Sis-Related Meningothelial Cell Tumor Neoplasm Of The Meninges Primary Meningeal Tumor Familial Multiple Meningioma MNGMA Meningioma, Benign, No Icd-O Subtype Intracranial Meningioma Meningothelial Cell Neoplasm Supratentorial Meningioma Primary Neoplasm Of Spinal Meninges Benign Intracranial Meningioma Benign Meningioma Meningeal Tumours Meningeal Sarcoma Of Unspecified Site Meningothelial Sarcoma Of Unspecified Site
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01252	ATRX Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19577	Atrx Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26074	Atrx Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ATRX	VGNC	VGNC:70195
Bos taurus	ATRX	VGNC	VGNC:26336
Rattus norvegicus	ATRX	RGD	RGD:619795
Felis catus	ATRX	VGNC	VGNC:68798
Mus musculus	ATRX	MGD	MGI:103067
Canis familiaris	ATRX	VGNC	VGNC:38297
Others	ATRX	NCBI