SMARCB1 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Gene

Also Known as RDT; CSS3; INI1; SNF5; Snr1; BAF47; INI-1; MRD15; RTPS1; Sfh1p; hSNFS; SNF5L1; SWNTS1; PPP1R144

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6598

About SMARCB1

Cytogenetic location: 22q11.23 Genomic coordinates (GRCh38): 22:23,786,966-23,838,009 (from NCBI)

This gene has 21 transcripts (splice variants), 1 gene allele, 270 orthologues and is associated with 134 phenotypes. Ubiquitous expression in testis (RPKM 42.3), ovary (RPKM 34.2) and 25 other tissues.

Summary

The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

SMARCB1 Products (8)

mRNA	Protein	Name
NM_001007468.3	NP_001007469.1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 isoform b
NM_001317946.2	NP_001304875.1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 isoform c
NM_001362877.2	NP_001349806.1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 isoform d
NM_003073.5	NP_003064.2	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 isoform a
NM_001007468.3	NP_001007469.1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 isoform b
NM_001317946.2	NP_001304875.1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 isoform c
NM_001362877.2	NP_001349806.1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 isoform d
NM_003073.5	NP_003064.2	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA binding	IDA IDA: Inferred from direct assay	26073604	GOA
contributes to RNA polymerase I core promoter sequence-specific DNA binding	IMP IMP: Inferred from mutant phenotype	22368283	GOA
enables Tat protein binding	IPI IPI: Inferred from physical interaction	16687403	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	27229929	GOA
enables p53 binding	IPI IPI: Inferred from physical interaction	11950834	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10078207	GOA
enables transcription coactivator activity	IMP IMP: Inferred from mutant phenotype	16687403	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in chromatin remodeling	IDA IDA: Inferred from direct assay	11726552	GOA
involved in chromatin remodeling	IMP IMP: Inferred from mutant phenotype	22368283	GOA
involved in nucleosome disassembly	IDA IDA: Inferred from direct assay	8895581	GOA
involved in positive regulation by host of viral transcription	IMP IMP: Inferred from mutant phenotype	16687403	GOA
involved in positive regulation of DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	11950834	GOA
involved in positive regulation of glucose mediated signaling pathway	IDA IDA: Inferred from direct assay	22368283	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	11950834	GOA
involved in positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IGI IGI: Inferred from genetic interaction	22368283	GOA
involved in positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP IMP: Inferred from mutant phenotype	22368283	GOA
acts upstream of or within single stranded viral RNA replication via double stranded DNA intermediate	IDA IDA: Inferred from direct assay	14963118	GOA
involved in transcription initiation-coupled chromatin remodeling	IMP IMP: Inferred from mutant phenotype	22368283	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of SWI/SNF complex	IDA IDA: Inferred from direct assay	8804307	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	22368283	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11430827	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

SMARCB1 Protein Structure

SNF5

0
100
200
300
394 a.a.

Protein Preferred Names	Protein Names
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1	BRG1-associated factor 47

SMARCB1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SMARCB1	Q12824	CALR	Homo sapiens	P27797	BioID	30108113
Intra	SMARCB1	Q12824	CALR	Homo sapiens	P27797	Pull Down	30108113
Intra	SMARCB1	Q12824	JPH3	Homo sapiens	Q8WXH2	Y2H Pooling	32814053
Intra	SMARCB1	Q12824	JPH3	Homo sapiens	Q8WXH2	Validated Y2H	32814053
Intra	SMARCB1	Q12824	JPH3	Homo sapiens	Q8WXH2	Y2H Array	32814053
Intra	SMARCB1	Q12824	MECP2	Homo sapiens	P51608	Validated Y2H	32814053
Intra	SMARCB1	Q12824	MECP2	Homo sapiens	P51608	Y2H Pooling	32814053
Intra	SMARCB1	Q12824	MECP2	Homo sapiens	P51608	Y2H Array	32814053
Intra	SMARCB1	Q12824	GLE1	Homo sapiens	Q53GS7	Validated Y2H	32814053
Intra	SMARCB1	Q12824	GLE1	Homo sapiens	Q53GS7	Y2H Array	32814053
Intra	SMARCB1	Q12824	GLE1	Homo sapiens	Q53GS7	Y2H Pooling	32814053
Intra	SMARCB1	Q12824	HRAS	Homo sapiens	P01112	Y2H Array	32814053
Intra	SMARCB1	Q12824	HRAS	Homo sapiens	P01112	Validated Y2H	32814053
Intra	SMARCB1	Q12824	HRAS	Homo sapiens	P01112	Y2H Pooling	32814053
Intra	SMARCB1	Q12824	GSN	Homo sapiens	P06396	Y2H Array	32814053
Intra	SMARCB1	Q12824	GSN	Homo sapiens	P06396	Y2H Pooling	32814053
Intra	SMARCB1	Q12824	GSN	Homo sapiens	P06396	Validated Y2H	32814053
Intra	SMARCB1	Q12824	H2AC18	Homo sapiens	Q6FI13	Pull Down	31759698
Intra	SMARCB1	Q12824	SMN1	Homo sapiens	Q16637	Validated Y2H	32814053
Intra	SMARCB1	Q12824	SMN1	Homo sapiens	Q16637	Y2H Array	32814053
Intra	SMARCB1	Q12824	SMN1	Homo sapiens	Q16637	Y2H Pooling	32814053
Intra	SMARCB1	Q12824	H2BC12	Homo sapiens	O60814	Pull Down	31759698
Intra	SMARCB1	Q12824	SPRED1	Homo sapiens	Q7Z699	Validated Y2H	32814053
Intra	SMARCB1	Q12824	SPRED1	Homo sapiens	Q7Z699	Y2H Array	32814053
Intra	SMARCB1	Q12824	SPRED1	Homo sapiens	Q7Z699	Y2H Pooling	32814053
Intra	SMARCB1	Q12824	ARID2	Homo sapiens	Q68CP9	Anti Tag CoIP	15985610
Intra	SMARCB1	Q12824	ARID2	Homo sapiens	Q68CP9	Anti Tag CoIP	34591612
Intra	SMARCB1	Q12824	ARID2	Homo sapiens	Q68CP9	BioID	30108113
Intra	SMARCB1	Q12824	ARID2	Homo sapiens	Q68CP9	Anti Tag CoIP	31759698
Intra	SMARCB1	Q12824	ARID2	Homo sapiens	Q68CP9	Anti Tag CoIP	33961781
Intra	SMARCB1	Q12824	ARID2	Homo sapiens	Q68CP9	TAP	24981860
Intra	SMARCB1	Q12824	ARID2	Homo sapiens	Q68CP9	Pull Down	30108113
Intra	SMARCB1	Q12824	NDUFV2	Homo sapiens	P19404	Validated Y2H	32814053
Intra	SMARCB1	Q12824	NDUFV2	Homo sapiens	P19404	Y2H Array	32814053
Intra	SMARCB1	Q12824	NDUFV2	Homo sapiens	P19404	Y2H Pooling	32814053
Intra	SMARCB1	Q12824	PECAM1	Homo sapiens	P16284	Y2H Pooling	32814053
Intra	SMARCB1	Q12824	PECAM1	Homo sapiens	P16284	Validated Y2H	32814053
Intra	SMARCB1	Q12824	PECAM1	Homo sapiens	P16284	Y2H Array	32814053
Intra	SMARCB1	Q12824	GFAP	Homo sapiens	P14136	Y2H Pooling	32814053
Intra	SMARCB1	Q12824	GFAP	Homo sapiens	P14136	Validated Y2H	32814053
Intra	SMARCB1	Q12824	GFAP	Homo sapiens	P14136	Y2H Array	32814053
Intra	SMARCB1	Q12824	H3C1	Homo sapiens	P68431	Pull Down	31759698
Cross	SMARCB1	Q12824	Smarca4	Rattus norvegicus	Q8K1P7	Anti Tag CoIP	23540691
Cross	SMARCB1	Q12824	P04585-PRO_0000042447	Human immunodeficiency virus	P04585-PRO_0000042447	Y2H	14963118

Cross: Cross-species interaction Intra: Intraspecies interaction

SMARCB1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82273	SMARCB1 Antibody (YA2018)	WB, IHC-F, IHC-P, ICC/IF, IP	Human, Mouse
HY-P82273A	SMARCB1 Antibody (YA2018)(PBS only)	WB, IHC-F, IHC-P, ICC/IF, IP	Human, Mouse
HY-P85957	SMARCB1 Antibody (YA5649)	IHC-P, WB, ICC/IF, ELISA	Human, Mouse,
HY-P85958	SMARCB1 Antibody (YA5650)	IHC-P, WB, ICC/IF, ELISA	Human, Mouse,

Related Diseases

Diseases	Alias
Coffin-Siris Syndrome 3	CSS3 Mrd15 Mental Retardation, Autosomal Dominant 15 Autosomal Dominant Mental Retardation 15 Coffin-Siris Syndrome, Type 3
Rhabdoid Tumor Predisposition Syndrome 1	RTPS1 Rhabdoid Tumors, Somatic Rhabdoid Tumor Malignant Rhabdoid Tumor, Somatic Teratoid Tumor, Atypical Brain Tumor, Posterior Fossa, Of Infancy, Familial Atypical Teratoid Tumor Malignant Rhabdoid Tumor Somatic Mrt Rdt Tumor, Rhabdoid, Predisposition Syndrome, Type 1 Atypical Teratoid/Rhabdoid Tumor
Schwannomatosis 1	SWNTS1 Schwannomatosis-1, Susceptibility To Schwannomatosis, Somatic Neurilemmomatosis, Congenital Cutaneous Schwannomatosis-1 Congenital Cutaneous Neurilemmomatosis Schwannomatosis
Neurilemmomatosis	Schwannomatosis Neurofibromatosis Type 3 Nf3 Neurilemmomatosis Congenital Cutaneous Neurinomatosis Congenital Cutaneous Neurilemmomatosis Multiple Neurilemmomas Multiple Schwannomas Neurilemmomatosis, Congenital Cutaneous Schwannomatosis 1 Neurofibromatosis 3 Mixed Central And Peripheral Neurofibromatosis Nf3 - [Neurofibromatosis Type 3]
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
Neurilemmoma	Schwannoma Benign Schwannoma Neurilemoma Peripheral Fibroblastoma Psammomatous Schwannoma Neurolemmoma Schwannomas
Central Nervous System Cancer	Central Nervous System Tumor Central Nervous System Tumors Cns Neoplasm Malignant Neoplasm Of Central Nervous System Malignant Tumor Of Cns Neoplasm Of Central Nervous System Malignant Neoplasm Of The Central Nervous System Neoplasm Of The Central Nervous System Central Nervous System Neoplasms Central Nervous System Neoplasm
Cellular Schwannoma	Cellular Neurinoma
Melanotic Neurilemmoma	Melanotic Schwannoma Pigmented Neurilemmoma Pigmented Schwannoma
Plexiform Schwannoma	Plexiform Neurilemmoma Plexiform Neurinoma
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12
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
Bap1 Tumor Predisposition Syndrome	Bap1-Related Tumor Predisposition Syndrome Common Syndrome Bap1 Cancer Syndrome Bap1-Tpds Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms Tumor Predisposition Syndrome Tumor Susceptibility Linked To Germline Bap1 Mutations Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms Tumor Predisposition
Inherited Cancer-Predisposing Syndrome	Hereditary Cancer-Predisposing Syndrome
Epithelioid Sarcoma	Epithelioid Cell Sarcoma Sarcoma Epithelioid Sarcoma, Epithelioid
Rhabdoid Cancer	Rhabdoid Tumor Malignant Rhabdoid Tumor Malignant Rhabdoid Tumour Rhabdoid Sarcoma Rhabdoid Tumor Predisposition Syndrome 1 Rhabdoid Tumor Predisposition Syndrome 2 Atypical Teratoid Rhabdoid Tumor Brain Tumor, Posterior Fossa, Of Infancy, Familial Atypical Teratoid/Rhabdoid Tumor
Nasal Cavity Cancer	Nasal Cavity Carcinoma Malignant Neoplasm Of Nasal Cavities Malignant Tumor Of The Nasal Cavity Cancer Of Nasal Cavity Carcinoma Of Nasal Cavity Malignant Neoplasm Of Nasal Cavity Neoplasm Of Nasal Cavity
Kidney Rhabdoid Cancer	Rhabdoid Tumor Of The Kidney Kidney Rhabdoid Tumor Renal Rhabdoid Tumor
Epithelioid Malignant Peripheral Nerve Sheath Tumor	Epithelioid Mpnst Malignant Epithelioid Neoplasm Of The Peripheral Nerve Sheath
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
Nk-Cell Enteropathy
Vulvar Proximal-Type Epithelioid Sarcoma
Central Epithelioid Sarcoma	Proximal-Type Epithelioid Sarcoma
Sinonasal Undifferentiated Carcinoma	Highly Aggressive Undifferentiated Carcinoma Of The Nasal Cavity And Paranasal Sinuses Snuc
Paranasal Sinus Cancer	Paranasal Sinus Adenoid Cystic Carcinoma Paranasal Sinus Mucoepidermoid Carcinoma Paranasal Sinus Squamous Cell Carcinoma Paranasal Sinus Neoplasms Adenoid Cystic Carcinoma Of Accessory Sinus Adenoid Cystic Carcinoma Of Paranasal Sinus Epidermoid Carcinoma Of The Paranasal Sinus Mucoepidermoid Carcinoma Of Accessory Sinus Paranasal Sinus Adenocarcinoma Squamous Cell Carcinoma Of Paranasal Sinus Paranasal Sinus Neoplasm Adenocarcinoma Of Accessory Sinus
Myoepithelioma	Benign Myoepithelioma Myoepithelial Adenoma Myoepithelial Neoplasm Malignant Myoepithelioma
Mesenchymal Chondrosarcoma	Chondrosarcoma, Mesenchymal Chondrosarcoma Mesenchymal
Myoepithelial Carcinoma	Malignant Myoepithelioma Myoepithelioma Carcinoma
Supratentorial Primitive Neuroectodermal Tumor	Supratentorial Pnet Supratentorial Embryonal Tumor, Not Otherwise Specified Ewings Sarcoma-Primitive Neuroectodermal Tumor
Chondroid Chordoma
Rhabdoid Meningioma	Papillary Meningioma Meningioma, Rhabdoid
Extraosseous Chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma
Chordoma	CHDM Notochordoma Notochordal Sarcoma Chordoma, Susceptibility To Chordocarcinoma Chordoepithelioma
Spinal Meningioma	Spinal Cord Meningioma Meningioma, Spine Meningioma Meningioma, Benign, No Icd-O Subtype
Spinal Canal And Spinal Cord Meningioma
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
Supratentorial Cancer	Supratentorial Neoplasms Brain Neoplasm, Supratentorial Malignant Supratentorial Tumor Cancer, Supratentorial
Retinoblastoma	RB Trilateral Retinoblastoma RB1 Retinoblastoma, Trilateral Neuroblastoma Of Retina Rb - Retinoblastoma Eye Cancer, Retinoblastoma Retinal Cancer Retinal Tumor Glioma, Retinal Non-Hereditary Retinoblastoma Childhood Cancer Retinoblastoma Malignant Neoplasm Of Retina Retinal Neoplasms
Tumor Predisposition Syndrome 1	TPDS1 Tumor Predisposition Syndrome TPDS
Ganglioglioma	Childhood Ganglioglioma Adult Ganglioglioma Cns Ganglioglioma Mixed Cell Tumors Containing Both Neural Ganglionic Cells And Neural Glial Cell Components
Ovarian Small Cell Carcinoma	Small Cell Carcinoma Of The Ovary Scco Small Cell Ovarian Carcinoma
Clear Cell Meningioma
Cerebrum Cancer	Cerebral Cancer Neoplasm Of Cerebrum Tumor Of Cerebrum Malignant Neoplasm Of Cerebrum
Chordoid Meningioma	Meningioma, Chordoid
Central Nervous System Angiosarcoma	Hemangiosarcoma Of The Cns
Vulvar Sarcoma	Sarcoma Of Vulva Vulva Sarcoma
Chondrosarcoma, Extraskeletal Myxoid	Extraskeletal Myxoid Chondrosarcoma Emc Myxoid Extraosseous Chondrosarcoma
Anterior Cranial Fossa Meningioma	Meningioma Of The Anterior Fossa
Posterior Pituitary Gland Neoplasm	Posterior Pituitary Tumor Neoplasm Of The Posterior Pituitary
Medulloblastoma	MDB Cpnet Localized Primitive Neuroectodermal Tumor Classic Medulloblastoma Medulloblastoma Predisposition Syndrome Medulloblastoma, Somatic Brain Medulloblastoma Cns Pnet Infratentorial Primitive Neuroectodermal Tumor Neuroectodermal Tumors, Primitive Medulloblastomas Desmoplastic Medulloblastoma Medulloblastoma, With Extensive Nodularity Medulloblastoma Of Unspecified Site Medullomyoblastoma Of Unspecified Site
Collecting Duct Carcinoma	Kidney Medullary Carcinoma Renal Medullary Carcinoma Bdc Bellini Carcinoma Bellini Duct Carcinoma Cdc Collecting Duct Carcinoma Of The Kidney Renal Cell Adenocarcinoma Carcinoma Of Renal Collecting Duct Renal Carcinoma, Collecting Duct Type Renal Cell Carcinoma Bellini'S Duct Carcinoma Renal Collecting Duct Carcinoma Adenocarcinoma Of Kidney
Medulloepithelioma	Diktyoma, Malignant Medulloepithelioma, Central Nervous System Medulloepithelioma Of The Central Nervous System
Parietal Lobe Neoplasm	Malignant Neoplasm Of Parietal Lobe Tumor Of Parietal Lobe Neoplasm Of Parietal Lobe
Embryonal Tumor With Multilayered Rosettes, C19mc-Altered	Ependymoblastoma
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
Human Immunodeficiency Virus Type 1	Aids Hiv/Aids Aids, Delayed/Rapid Progression To Hiv-1, Susceptibility To Hiv-1 Viremia, Susceptibility To Human Immunodeficiency Virus Type 1, Susceptibility To Hiv-1 Aids, Slow Progression To Rapid Progression To Aids From Hiv1 Infection Hiv1 Infection, Resistance To Hiv1 Infection Hiv-1 Viremia Aids, Resistance To Aids, Rapid Progression To Hiv/Aids, Susceptibility To Hiv-1, Resistance To Hiv1, Resistance To Hiv1 Hiv-1 Disease, Delayed Progression Of Hiv-1 Disease, Rapid Progression Of Hiv Infection, Resistance To Hiv Type 1, Susceptibility To Hiv Type 1 Hiv-1 Infection Human Immunodeficiency Virus I Infection Acquired Immunodeficiency Syndrome Hiv-Infection/Aids
Peripheral Nerve Schwannoma
Hypertrichosis
Cerebral Ventricle Cancer	Cerebral Ventricle Neoplasms Cerebral Ventricle Neoplasm Intraventricular Tumor Of Brain
Central Nervous System Primitive Neuroectodermal Neoplasm	Cpnet
Optic Nerve Sheath Meningioma	Meningioma Of Optic Nerve Sheath
Sarcoma	Connective And Soft Tissue Neoplasm Tumor Of Soft Tissue And Skeleton Sarcomas Sarcoma - Category
Smarca4-Deficient Sarcoma Of Thorax	Smarca4-Dts Smarca4-Deficient Thoracic Sarcoma
Pineal Gland Cancer	Tumor Of The Pineal Region Malignant Pineal Region Tumor Malignant Tumor Of Pineal Gland Neoplasm Of Pineal Gland Neoplasm Of The Pineal Region Pineal Body Neoplasm Pineocytic Tumor Malignant Neoplasm Of Pineal Gland Pineal Gland Neoplasm Pineocytoma
Cerebral Falx Meningioma	Falcine Meningioma Falx Cerebri Meningioma
Cerebellopontine Angle Tumor	Cerebellopontine Angle Tumour Neoplasm Of The Cerebellopontine Angle
Brain Cancer	Adult Brain Tumor Malignant Neoplasm Of Brain Brain Neoplasms Brain Neoplasm Neoplasm Of Brain Primary Malignant Neoplasm Of Brain Brain Tumors Adult Malignant Brain Neoplasm Brain Neoplasm, Adult Bt - Brain Tumour Malignant Brain Tumour Malignant Primary Brain Neoplasm Malignant Primary Brain Tumor Malignant Tumor Of Adult Brain Malignant Tumor Of Brain Primary Brain Neoplasm Primary Brain Tumor Tumor Of The Brain Brain Tumor, Adult Brain Tumor Primary Malignant Primary Brain Tumors Primary Brain Tumors Cancer, Brain Brain Tumor, Primary
Childhood Meningioma	Pediatric Meningioma
Optic Nerve Neoplasm	Optic Nerve Neoplasms Neoplasm Of Optic Nerve Tumor Of Second Cranial Nerve Tumour Of Optic Nerve
Autosomal Dominant Intellectual Developmental Disorder	Autosomal Dominant Mental Retardation Autosomal Dominant Non-Syndromic Mental Retardation Autosomal Dominant Non-Syndromic Intellectual Disability Mental Retardation, Autosomal Dominant
Pineal Region Teratoma	Teratoma Of Pineal Area
Clark-Baraitser Syndrome	CLABARS Baraitser Syndrome Autosomal Dominant Intellectual Disability 49 Mental Retardation, Autosomal Dominant 49, Formerly Mrd49, Formerly Intellectual Developmental Disorder, Autosomal Dominant 49 Autosomal Dominant Mental Retardation 49 Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features Mrd49 Progeria Short Stature Pigmented Nevi
Synovium Cancer	Malignant Tumor Of Synovium Synovial Neoplasm
Cerebrovascular Benign Neoplasm
Cranial Nerve Malignant Neoplasm	Cranial Nerve Neoplasms Malignant Neoplasm Of Cranial Nerve Malignant Tumor Of Cranial Nerve Malignant Tumor Of The Cranial Nerve
Melanotic Medulloblastoma	Medulloblastoma, Melanotic
Intracranial Meningioma	Meningioma
Keratinizing Squamous Cell Carcinoma	Squamous Cell Carcinoma, Keratinizing Keratinizing Epidermoid Carcinoma
Desmoplastic Nodular Medulloblastoma	Medulloblastoma With Extensive Nodularity Nodular Medulloblastoma Desmoplastic/Nodular Medulloblastoma Mben Medulloblastoma, With Extensive Nodularity
Pineoblastoma	Pineal Pnet Pinealoma Pineal Gland Neoplasm Pineocytoma Tumor Of The Pineal Region
Ossifying Fibromyxoid Tumor	Ossifying Fibromyxoid Tumour Ossifying Fibromyxoma
Pineal Region Meningioma	Pineal Meningioma
Olfactory Groove Meningioma	Meningioma Of The Olfactory Groove
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
Optic Nerve Astrocytoma	Astrocytic Tumor Of Optic Nerve Optic Tract Astrocytoma Visual Pathway Astrocytoma
Breast Rhabdomyosarcoma	Rhabdomyosarcoma Of The Breast
Malignant Olfactory Nerve Neoplasm	Malignant Olfactory Nerve Tumor Malignant Tumor Of Olfactory Nerve Primary Malignant Neoplasm Of Olfactory Nerve
Sweat Gland Benign Neoplasm	Neoplasm Of Sweat Gland Sweat Gland Tumor Tumor Of The Sweat Gland Sweat Gland Neoplasms Sweat Gland Neoplasm
Proliferative Fasciitis
Anaplastic Ependymoma	Ependymoma, Anaplastic Undifferentiated Ependymoma
Papilloma Of Choroid Plexus	Choroid Plexus Papilloma CPP Childhood Choroid Plexus Papilloma Papilloma Choroid Plexus Papilloma, Choroid Plexus Choroid Plexus Carcinoma
Ovarian Large-Cell Neuroendocrine Carcinoma	Non-Small-Cell Type Neuroendocrine Carcinoma Of Ovary Ovarian Large Cell Neuroendocrine Carcinoma
High Grade Ependymoma	Ependymal Neoplasm Ependymal Tumors Malignant Ependymoma Ependymal Tumor Anaplastic Ependymoma Experimental Organism Malignant Ependymoma Ependymoma Of Brain
Solitary Fibrous Tumor/Hemangiopericytoma	Sft/Hpc
Secretory Meningioma	Meningioma
Hepatoblastoma
Transitional Meningioma	Transitional Meningioma
Ovarian Clear Cell Carcinoma	Clear-Cell Ovarian Carcinoma
Neurofibromatosis, Type Ii	Neurofibromatosis 2 Neurofibromatosis, Type 2 NF2 Neurofibromatosis Type Ii Bilateral Acoustic Neurofibromatosis Banf Acn Central Neurofibromatosis Neurofibromatosis, Central Type Acoustic Schwannomas, Bilateral Acoustic Neurinoma, Bilateral Bilateral Acoustic Neurinoma Bilateral Acoustic Schwannomas Familial Acoustic Neuromas
Acoustic Neuroma	Neurofibromatosis Type 2 Vestibular Schwannoma Acoustic Neurinoma Bilateral Acoustic Neurofibromatosis Nf2 Acoustic Neurilemoma Cerebellopontine Angle Tumor Neurofibromatosis Central Type Neurofibromatosis Type Ii Vestibular Neurilemmoma Acoustic Tumor Neurinoma Of The Acoustic Nerve Acoustic Neurinoma Bilateral Acoustic Schwannomas Bilateral Banf Central Neurofibromatosis Familial Acoustic Neuromas Neurofibromatosis 2 Neurofibromatosis Type 2 Merlin Schwannoma, Acoustic, Bilateral Neuroma Acoustic Neuroma, Acoustic Familial Acoustic Neuroma Familial Vestibular Schwannoma Neurofibromatosis, Central Type Nf2 - [Neurofibromatosis Type 2]
Desmoplastic Small Round Cell Tumor	Dsrct Desmoplastic Small Round-Cell Tumor Desmoplastic Small Round-Cell Neoplasm
Nut Midline Carcinoma	Nuclear Protein In Testis Midline Carcinoma Nmc
Parasagittal Meningioma
Skull Base Cancer	Tumors Of Skull Base Skull Base Neoplasms
Meningothelial Meningioma	Meningotheliomatous Meningioma
Skull Base Meningioma	Meningioma Of The Skull Base
Histiocytoid Hemangioma	Angiolymphoid Hyperplasia With Eosinophilia Epithelioid Haemangioma Epithelioid Hemangioma
Biphasic Synovial Sarcoma	Synovial Sarcoma, Biphasic Biphasic Sarcoma Of Synovium
Cerebral Convexity Meningioma	Cerebral Hemispheric Convexity Meningioma
Atypical Choroid Plexus Papilloma	Atypical Papilloma Of Choroid Plexus Atypical Cpp
Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus, X-Linked Hydrocephalus Adverse Event Hydrocephaly Nos
Skeletal Muscle Cancer	Malignant Tumor Of Skeletal Muscle Skeletal Muscle Neoplasm
Retroperitoneal Leiomyosarcoma
Neuroma
Kidney Cortex Disease
Clear Cell Sarcoma	Sarcoma, Clear Cell Adult Soft Part Clear Cell Sarcoma Clear Cell Sarcoma Of Soft Parts Malignant Melanoma Of Soft Parts Malignant Melanoma Of Soft Tissues Melanoma, Malignant, Of Soft Parts Sarcoma Clear Cell
Sarcomatoid Squamous Cell Skin Carcinoma	Spindle Cell Squamous Cell Carcinoma Spindle Cell Squamous Cell Carcinoma Spindle Cell Squamous Cell Skin Carcinoma Spindle Cell Squamous Carcinoma Of Skin Squamous Cell Carcinoma, Sarcomatoid
Juvenile Type Testicular Granulosa Cell Tumor	Juvenile Granulosa Cell Tumor Juvenile Granulosa Cell Tumour Juvenile Type Granulosa Cell Neoplasm Juvenile Type Granulosa Cell Tumor Juvenile Type Granulosa Cell Tumour Juvenile Type Testicular Granulosa Cell Tumour
Testicular Granulosa Cell Tumor	Granulosa Cell Tumor Of Testis Granulosa Cell Tumour Of Testis Testicular Granulosa Cell Tumour
Atypical Neurofibroma
Infratentorial Cancer	Infratentorial Neoplasms Brain Neoplasm, Infratentorial Malignant Infratentorial Tumors
Spinal Cord Ependymoma	Ependymal Neoplasm Of The Spinal Cord Spinal Ependymoma Ependymoma Of Spinal Cord
Malignant Teratoma	Immature Teratoma Malignant Extragonadal Teratoma Primary Malignant Extragonadal Teratoma Teratoma, Malignant, Nos Teratoma, Malignant Immature Extragonadal Teratoma
Brain Meningioma	Intracranial Meningioma
Sarcoma, Synovial	Synovial Sarcoma Synovialosarcoma Synovial Cell Sarcoma Sarcoma Synovial
Fibrous Meningioma	Fibroblastic Meningioma
Myxofibrosarcoma	Fibromyxosarcoma Fibromyxoid Sarcoma Myxoid Malignant Fibrous Histiocytoma Dermatofibrosarcoma Protuberans, Myxoid
Congenital Mesoblastic Nephroma	Mesoblastic Nephroma Nephroma, Mesoblastic
Alveolar Soft Part Sarcoma	ASPS Alveolar Soft-Part Sarcoma Sarcoma, Alveolar Soft Part Alveolar Soft Tissue Sarcoma Sarcoma Alveolar Soft Part Adult Alveolar Soft-Part Sarcoma Childhood Alveolar Soft-Part Sarcoma
Muscle Cancer	Myosarcoma Malignant Neoplasm Of Muscle Malignant Tumor Of Muscle Malignant Tumor Of The Muscle Muscle Neoplasms Myomatous Neoplasm
Kleefstra Syndrome	9q34.3 Microdeletion Syndrome 9q Subtelomeric Deletion Syndrome 9q- Syndrome Chromosome 9q Deletion Syndrome 9q34.3 Deletion Syndrome 9qstds Chromosome 9q34.3 Deletion Syndrome Chromosome 9, Trisomy 9q
Basal Cell Nevus Syndrome	Nevoid Basal Cell Carcinoma Syndrome Gorlin Syndrome Nbccs BCNS Gorlin-Goltz Syndrome Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies Cerebral Gigantism Jaw Cysts Cramer Niederdellmann Syndrome Gorlin Syndrome Or Gorlin-Goltz Syndrome Naevoid Basal Cell Carcinoma Syndrome
Vulvar Disease	Vulvar Diseases Vulvar Disorders
Spindle Cell Sarcoma	Sarcoma Sarcoma Spindle Cell Sarcoma, Spindle Cell Sarcoma - Category
Kidney Clear Cell Sarcoma	Clear Cell Sarcoma Of Kidney Childhood Kidney Clear Cell Sarcoma Renal Clear Cell Sarcoma Ccsk Clear Cell Sarcoma Of The Kidney
Mesenchymal Cell Neoplasm	Benign Miscellaneous Mesenchymal Tumor Mesenchymal Tumor Mesenchymal Tumors
Ichthyosis, Congenital, Autosomal Recessive 9	Autosomal Recessive Congenital Ichthyosis 9 ARCI9 Ichthyosis, Congenital, Autosomal Recessive, Type 9
Large Cell Carcinoma With Rhabdoid Phenotype	Large Cell Lung Carcinoma With Rhabdoid Phenotype
Dedifferentiated Liposarcoma	Ddls Liposarcoma Dedifferentiated Liposarcoma, Dedifferentiated
Well-Differentiated Liposarcoma	Atypical Lipomatous Tumor Atypical Lipoma Alt Wdls Liposarcoma, Well Differentiated Pleomorphic Lipoma
Myxoid Liposarcoma	Myxoid/Round Cell Liposarcoma Liposarcoma, Myxoid Mrcls Myxoliposarcoma MXLIPO Liposarcoma Myxoid Liposarcoma
Schwannoma Of Twelfth Cranial Nerve	Hypoglossal Schwannoma Schwannoma Of The Twelfth Cranial Nerve
Hypoglossal Nerve Disease	Hypoglossal Nerve Diseases Disorder Of 12th Nerve Disorder Of Hypoglossal [12th] Nerve Disorder Of Hypoglossal Nerve Disorder Of Xii Nerve Disorders Of The Twelfth Cranial Nerve Disorders Of 12th Cranial Nerve
Rhabdomyosarcoma 2	Alveolar Rhabdomyosarcoma Rhabdomyosarcoma, Alveolar Rhabdomyosarcoma Alveolar RMS2 Rmsa Rhabdomyosarcoma 2, Alveolar Alveolar Childhood Rhabdomyosarcoma Arms Rhabdomyosarcoma, Type 2
Embryonal Rhabdomyosarcoma	Rhabdomyosarcoma, Embryonal Rhabdomyosarcoma Embryonal Botryoid Rhabdomyosarcoma Erms Spindle Cell Rhabdomyosarcomas
Rhabdomyosarcoma
Kidney Fibrosarcoma	Fibrosarcoma Of The Kidney
Renal Cell Carcinoma, Papillary, 1	Papillary Renal Cell Carcinoma Hereditary Papillary Renal Cell Carcinoma Papillary Renal Cell Carcinoma, Sporadic Papillary Renal Cell Adenocarcinoma RCCP RCCP1 Renal Cell Carcinoma, Papillary Renal Cell Carcinoma, Papillary, 1, Familial And Somatic Chromophil Carcinoma Of Kidney Papillary Kidney Carcinoma Sporadic Papillary Renal Cell Carcinoma Chromophil Renal Cell Carcinoma Papillary Renal Carcinoma, Malignant - Papillary Renal Cell Carcinoma, Bilateral - Papillary Renal Cell Carcinoma, Familial - Papillary Renal Cell Carcinoma, Multiple - Papillary Renal Cell Carcinoma, Sporadic - Renal Adenocarcinoma Chromophil Rcc Hprcc Renal Cell Carcinoma Papillary Chromophilic Renal Cell Carcinoma Prcc Carcinoma, Renal Cell, Papillary, Type 1 Type 1 Papillary Renal Cell Carcinoma Renal Cell Carcinoma Hereditary Papillary Renal Carcinoma
Wilms Tumor 1	Nephroblastoma Wilms Tumor WT1 Wilms' Tumor Bilateral Wilms Tumor Wilms Tumor, Type 1 Wilms Tumor, Somatic Adult Nephroblastoma Wt1 Disorder Renal Embryonic Tumor Adult Kidney Wilms Tumor Childhood Kidney Wilms Tumor Nonanaplastic Kidney Wilms Tumor
Ewing Sarcoma	Neuroepithelioma Ewing'S Tumor Primitive Neuroectodermal Tumor Ewings Sarcoma Ewing'S Sarcoma Peripheral Neuroepithelioma ES Ewings Sarcoma-Primitive Neuroectodermal Tumor Localized Peripheral Primitive Neuroectodermal Tumor Peripheral Primitive Neuroectodermal Tumor Ewing Tumor Sarcoma, Ewing'S Ewing Family Of Tumors Extraosseous Ewing Tumor Askin Tumor Ewing'S Family Localized Tumor Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing Sarcoma Localized Ewing'S Sarcoma Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing'S Tumor Pnet Of Thoracopulmonary Region Tumor Of The Ewing Family Skeletal Ewing Sarcoma Osseous Ewing Sarcoma Ppnet Peripheral Pnet Extraskeletal Ewing Sarcoma Eoe Extraosseous Ewing Sarcoma Extraskeletal Ewing Tumor Esft Ewing Sarcoma Family Of Tumors Pne Pnet Pnet Of The Chest Wall Sarcoma, Ewing Neuroectodermal Tumors, Primitive, Peripheral Neuroectodermal Tumor, Primitive Disorder Of Eye Askin'S Tumor Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor Neuroepithelioma, Peripheral
Chromosome 22q11.2 Deletion Syndrome, Distal	22q11.2 Deletion Syndrome Autosomal Dominant Opitz G/Bbb Syndrome Catch22 Cayler Cardiofacial Syndrome Conotruncal Anomaly Face Syndrome Digeorge Syndrome Sedlackova Syndrome Shprintzen Syndrome Velocardiofacial Syndrome 22q11.2 Distal Deletion Syndrome Distal 22q11.2 Microdeletion Syndrome 22q11.2ds Vcfs Velo-Cardio-Facial Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Chromosome 22q11.2 Deletion Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Deletion 22q11.2 Syndrome 22q11ds Catch 22 Digeorge Sequence Microdeletion 22q11.2 Monosomy 22q11 Takao Syndrome Distal Del(22)(Q11.2) Distal Monosomy 22q11.2 Catch 22 Syndrome Chromosome Deletion Syndrome 22q11.2, Distal
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

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

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-13803	Tazemetostat		99.93%	Yes

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-145925B	CFT8634	Inhibitor	98.10%	Unkown
HY-131246	DM-01	Inhibitor	98.05%	Unkown
HY-184266	GCLCi0	Inducer	/	Unkown
HY-184267	GCLCi1		/	Unkown
HY-RS13409	SMARCB1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17520	Smarcb1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23976	Smarcb1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SMARCB1	VGNC	VGNC:65468
Rattus norvegicus	SMARCB1	RGD	RGD:1308761
Canis familiaris	SMARCB1	VGNC	VGNC:46534
Macaca mulatta	SMARCB1	VGNC	VGNC:77651
Mus musculus	SMARCB1	MGD	MGI:1328366
Bos taurus	SMARCB1	VGNC	VGNC:34991
Others	SMARCB1	NCBI