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

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

Homo sapiens

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

Gene ID: 6598 | Gene type: protein coding

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 Reference 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
Cellular Component GO Annotation Evidence Reference 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

SNF5: SNF5 / SMARCB1 / INI1 (188 - 382)

  • 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 Reference
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

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

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