SMARCA4 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Gene

Also Known as BRG1; CSS4; SNF2; SWI2; MRD16; RTPS2; BAF190; SNF2L4; SNF2LB; hSNF2b; BAF190A; SNF2-beta

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6597

About SMARCA4

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:10,961,030-11,062,273 (from NCBI)

This gene has 54 transcripts (splice variants), 268 orthologues, 30 paralogues and is associated with 166 phenotypes. Ubiquitous expression in testis (RPKM 21.8), brain (RPKM 14.5) and 25 other tissues.

Summary

The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

SMARCA4 Products (10)

mRNA Protein Name
NM_001128844.3 NP_001122316.1 transcription activator BRG1 isoform B
NM_001128845.2 NP_001122317.1 transcription activator BRG1 isoform C
NM_001128846.2 NP_001122318.1 transcription activator BRG1 isoform D
NM_001128847.4 NP_001122319.1 transcription activator BRG1 isoform E
NM_001128848.2 NP_001122320.1 transcription activator BRG1 isoform F
NM_001128849.3 NP_001122321.1 transcription activator BRG1 isoform A
NM_001374457.1 NP_001361386.1 transcription activator BRG1 isoform E
NM_001387283.1 NP_001374212.1 transcription activator BRG1 isoform A
NM_001411150.1 NP_001398079.1 transcription activator BRG1 isoform G
NM_003072.5 NP_003063.2 transcription activator BRG1 isoform B

SMARCA4 Protein Structure

QLQ

QLQ: QLQ (171 - 206)

HSA

HSA: HSA (460 - 532)

BRK

BRK: BRK domain (610 - 655)

SNF2_N

SNF2_N: SNF2 family N-terminal domain (757 - 1051)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (1117 - 1194)

SnAC

SnAC: Snf2-ATP coupling, chromatin remodelling complex (1322 - 1389)

Bromodomain

Bromodomain: Bromodomain (1509 - 1582)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1679 a.a.
Protein Preferred Names Protein Names

transcription activator BRG1

  • ATP-dependent helicase SMARCA4

SMARCA4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Referencias
Intra
SMARCA4 P51532 TERT Homo sapiens O14746 19571879
Intra
SMARCA4 P51532 SMARCC1 Homo sapiens Q92922 35271311
Intra
SMARCA4 P51532 SMARCC1 Homo sapiens Q92922 12368262
Intra
SMARCA4 P51532 SMARCC1 Homo sapiens Q92922 15985610
Intra
SMARCA4 P51532 SMARCC1 Homo sapiens Q92922
PLA
28420882
Intra
SMARCA4 P51532 SMARCC1 Homo sapiens Q92922 23540691
Intra
SMARCA4 P51532 SMARCC1 Homo sapiens Q92922 18303029
Intra
SMARCA4 P51532 SMARCC1 Homo sapiens Q92922 10078207
Intra
SMARCA4 P51532 SMARCC1 Homo sapiens Q92922 31759698
Intra
SMARCA4 P51532 SMARCC1 Homo sapiens Q92922 12917342
Intra
SMARCA4 P51532 SMARCB1 Homo sapiens Q12824 23540691
Intra
SMARCA4 P51532 SMARCB1 Homo sapiens Q12824 10078207
Intra
SMARCA4 P51532 SMARCB1 Homo sapiens Q12824 31759698
Intra
SMARCA4 P51532 SMARCB1 Homo sapiens Q12824 15985610
Intra
SMARCA4 P51532 SMARCB1 Homo sapiens Q12824 12368262
Intra
SMARCA4 P51532 SMARCB1 Homo sapiens Q12824 23540691
Intra
SMARCA4 P51532 SMARCB1 Homo sapiens Q12824 35271311
Intra
SMARCA4 P51532 SMARCD1 Homo sapiens Q96GM5 15985610
Intra
SMARCA4 P51532 SMARCD1 Homo sapiens Q96GM5 12917342
Intra
SMARCA4 P51532 SMARCD1 Homo sapiens Q96GM5 35271311
Intra
SMARCA4 P51532 H2AX Homo sapiens P16104
IF
20224553
Intra
SMARCA4 P51532 H2AX Homo sapiens P16104 20224553
Intra
SMARCA4 P51532 RBPJ Homo sapiens Q06330 23022380
Intra
SMARCA4 P51532 PBRM1 Homo sapiens Q86U86 15985610
Intra
SMARCA4 P51532 PBRM1 Homo sapiens Q86U86 35271311
Intra
SMARCA4 P51532 PBRM1 Homo sapiens Q86U86 22140357
Intra
SMARCA4 P51532 ARID2 Homo sapiens Q68CP9 35271311
Intra
SMARCA4 P51532 ARID2 Homo sapiens Q68CP9 15985610
Intra
SMARCA4 P51532 ARID2 Homo sapiens Q68CP9 22140357
Intra
SMARCA4 P51532 ARID1A Homo sapiens O14497 15985610
Intra
SMARCA4 P51532 ARID1A Homo sapiens O14497 12368262
Intra
SMARCA4 P51532 ARID1A Homo sapiens O14497 23540691
Intra
SMARCA4 P51532 ARID1A Homo sapiens O14497
Y2H
11988099
Intra
SMARCA4 P51532 ARID1B Homo sapiens Q8NFD5 35271311
Intra
SMARCA4 P51532 ARID1B Homo sapiens Q8NFD5 12200431
Intra
SMARCA4 P51532 SYT-SSX1 Homo sapiens A4PIV7 23540691
Intra
SMARCA4 P51532 REST Homo sapiens Q13127 12192000
Cross
SMARCA4 P51532 Nr3c1 Rattus norvegicus P06536 12917342
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SMARCA4 Proteins

Referencia número Nombre del producto Accession Pureza
HY-P71784 SMARCA4 Protein, Human (P.pastoris, His) P51532 (E700-F1246) ≥ 90%, as determined by reducing SDS-PAGE.

SMARCA4 Antibodies

Referencia número Nombre del producto Aplicación Reactivity
HY-P80039 BRG1 Antibody (YA577) WB, IHC-P, IHC-F, ICC/IF, FC, IF-Tissue Human, Mouse, Rat, Pig
HY-P80575 BRG1 Antibody (YA817) WB, ICC/IF, IP Human, Mouse
HY-P80575A BRG1 Antibody (YA817)(PBS only) WB, ICC/IF, IP Human, Mouse
HY-P85601 BRG1 Antibody (YA5293) WB, ICC/IF, IP Human, Mouse
HY-P86425 BRG1 Antibody (YA6117) WB, IHC-P, ICC/IF, IP, ELISA Mouse, Rat

Related Diseases

Diseases Alias
Coffin-Siris Syndrome 4
  • CSS4

  • Mrd16

  • Mental Retardation, Autosomal Dominant 16

  • Autosomal Dominant Mental Retardation 16

  • Coffin-Siris Syndrome, Type 4

Rhabdoid Tumor Predisposition Syndrome 2
  • RTPS2

  • Tumor, Rhabdoid, Predisposition Syndrome, Type 2

Ovarian Small Cell Carcinoma
  • Small Cell Carcinoma Of The Ovary

  • Scco

  • Small Cell Ovarian Carcinoma

Smarca4-Deficient Sarcoma Of Thorax
  • Smarca4-Dts

  • Smarca4-Deficient Thoracic Sarcoma

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

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

Familial Hypercholesterolemia
  • Hyperlipoproteinemia Type Iia

  • Familial Hyperbetalipoproteinaemia

  • Familial Hypercholesteremia

  • Fredrickson Type Iia Hyperlipoproteinemia

  • Fredrickson Type Iia Lipidaemia

  • Hyperbetalipoproteinemia

  • Type Ii Hyperlipidemia

  • Familial Hypercholesterolæmia

  • Familial Hypercholesterolaemia

  • Fh

  • Hypercholesterolemia Familial

  • Hyperlipoproteinemia Type Ii

  • Hypercholesterolemia, Familial

Hypercholesterolemia, Familial, 1
  • Hypercholesterolemia

  • FHCL1

  • Fhc

  • Fh

  • Hyperlipoproteinemia, Type Ii

  • Hyperlipoproteinemia, Type Iia

  • Hyper-Low-Density-Lipoproteinemia

  • Hypercholesterolemic Xanthomatosis, Familial

  • Ldl Receptor Disorder

  • Hypercholesterolemia, Susceptibility To

  • Hypercholesterolemia, Familial, Modifier Of

  • Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of

  • Ldl Cholesterol Level Qtl2

  • Hyperlipoproteinemia Type Ii

  • Hypercholesterolemia, Familial, Type 1

  • High Cholesterol

  • Increased Cholesterol

  • Low-Density-Lipoid-Type Hyperlipoproteinemia

  • Pure Hypercholesterolaemia

  • Ldl - [Low Density Lipoprotein} Hyperlipoproteinemia

  • Group A Hyperlipidaemia

  • Pure Hypercholesterinaemia

  • Cholesterolaemia

  • Essential Cholesterolaemia

  • Essential Hypercholesterolaemia

  • Group A Hyperlipemia

  • Increased Low Density Lipoprotein

  • Low-Density-Lipoprotein-Type

  • Low-Density-Lipoprotein-Type Hyperlipoproteinemia

Cerebral Palsy
  • Infantile Cerebral Palsy

  • Mixed Cerebral Palsy

  • Palsy Cerebral

  • Palsy, Cerebral

  • Cerebral Palsy, Mixed

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

Ventricular Septal Defect
  • Ventricular Septal Defects

  • Interventricular Septal Defect

  • Heart Septal Defects, Ventricular

  • Ventricular Septal Abnormality

  • Interventricular Septum Defect

  • Ventricular Septum Defect

  • Vsd - [Ventricular Septum Defect]

  • Congenital Ventricular Septal Defect

  • Single Ventricular Septal Defect

Atrial Heart Septal Defect
  • Atrial Septal Defect

  • Atrial Septal Defects

  • Atrioseptal Defect

  • Auricular Septal Defect

  • Congenital Atrial Septal Defect

  • Interatrial Septal Defect

  • Interauricular Septal Defect

  • Heart Septal Defects, Atrial

  • Septal Defect, Atrial

Interatrial Communication
  • Asd

  • Atrial Septal Defect

  • Interauricular Communication

Cleft Palate, Isolated
  • Cleft Palate

  • Isolated Cleft Palate

  • CPI

  • Cp

  • Palatoschisis

  • Cleft Palate Isolated

  • Uranostaphyloschisis

  • Congenital Fissure Of Palate

  • Cleft Of Secondary Palate

Tumor Predisposition Syndrome 2
  • TPDS2

  • Mbd4-Associated Neoplasia Syndrome

  • Mans

  • Man

Neuroblastoma
  • Nb

  • Neuroblastoma, Susceptibility To

  • Neuroblastomas

  • Central Neuroblastoma

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

Small-Cell Carcinoma Of The Ovary Of Hypercalcemic Type
  • Hypercalcemic Type Ovarian Small Cell Carcinoma

  • Small Cell Carcinoma Of The Ovary, Hypercalcemic Type

  • Ovarian Small Cell Carcinoma, Hypercalcemic Type

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

Schimke Immunoosseous Dysplasia
  • Schimke Immuno-Osseous Dysplasia

  • SIOD

  • Immunoosseous Dysplasia, Schimke Type

  • Schimke Syndrome

  • Immunoosseous Dysplasia Schimke Type

  • Spondyloepiphyseal Dysplasia - Nephrotic Syndrome

  • Spondyloepiphyseal Dysplasia Nephrotic Syndrome

  • Spondyloepiphyseal Dysplasia-Nephrotic Syndrome

Large Cell Carcinoma With Rhabdoid Phenotype
  • Large Cell Lung Carcinoma With Rhabdoid Phenotype

Thymus Large Cell Carcinoma
  • Large Cell Carcinoma Of The Thymus

  • Thymic Large Cell Neuroendocrine Carcinoma

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

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

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

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

Hypertrichosis
Kidney Rhabdoid Cancer
  • Rhabdoid Tumor Of The Kidney

  • Kidney Rhabdoid Tumor

  • Renal Rhabdoid Tumor

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

Sinonasal Undifferentiated Carcinoma
  • Highly Aggressive Undifferentiated Carcinoma Of The Nasal Cavity And Paranasal Sinuses

  • Snuc

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

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

Ovarian Clear Cell Carcinoma
  • Clear-Cell Ovarian Carcinoma

Mediastinum Sarcoma
  • Sarcoma Of Mediastinum

Cockayne Syndrome
  • Cockayne'S Syndrome

  • Dwarfism-Retinal Atrophy-Deafness Syndrome

  • Neill-Dingwall Syndrome

  • Progeria-Like Syndrome

  • Progeroid Nanism

  • Cs

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]

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

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

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

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

Clear Cell Adenofibroma
  • Cystadenofibroma

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

Bacteremia 2
  • Bacteremia

  • Bacteremia, Susceptibility To, 2

  • BACTS2

  • Bacteremia, Susceptibility To

  • Bacteremia, Susceptibility To, Type 2

Oculopharyngeal Muscular Dystrophy
  • OPMD

  • Muscular Dystrophy, Oculopharyngeal

  • Dystrophy, Oculopharyngeal Muscular

  • Oculopharyngeal Dystrophy

  • Progressive Muscular Dystrophy, Oculopharyngeal Type

  • Muscular Dystrophy Oculopharyngeal

  • Dystrophy, Muscular, Oculopharyngeal

Neural Tube Defects
  • Spina Bifida

  • Neural Tube Defect

  • NTD

  • Neural Tube Defects, Susceptibility To

  • Spinal Dysraphism

  • Spina Bifida, Susceptibility To

  • Rachischisis

  • Cleft Spine

  • Open Spine

  • Hydrocele Spinalis

  • Neural Tube Defect Nos

  • Sb - [Spina Bifida]

  • Spinal Hernia Nos

  • Spinal Fissure Nos

Posterior Pituitary Gland Neoplasm
  • Posterior Pituitary Tumor

  • Neoplasm Of The Posterior Pituitary

Lung Cancer
  • Lung Carcinoma

  • Non-Small Cell Lung Carcinoma

  • Lung Cancer, Susceptibility To

  • Lung Cancer, Protection Against

  • Adenocarcinoma Of Lung, Somatic

  • Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer

  • Lung Neoplasm

  • Carcinoma Of Lung

  • Lung Non-Small Cell Carcinoma

  • Non-Small Cell Lung Cancer

  • Nsclc

  • Lung Neoplasms

  • Malignant Neoplasm Of Lung

  • Alveolar Cell Carcinoma

  • Nonsmall Cell Lung Cancer, Somatic

  • Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer, Susceptibility To

  • Lung Cancer, Somatic

  • Lung Cancer, Resistance To

  • Cancer Of Lung

  • Cancer Of Bronchus

  • Cancer Of The Lung

  • Lung Malignancies

  • Lung Malignant Tumors

  • Malignant Lung Tumor

  • Malignant Tumor Of Lung

  • Pulmonary Cancer

  • Pulmonary Carcinoma

  • Pulmonary Neoplasms

  • Respiratory Carcinoma

  • LNCR

  • Adenocarcinoma Of Lung

  • Neoplasm Of Lung

  • Cancer Lung

  • Carcinoma Non-Small Cell Lung

  • Carcinoma, Non-Small-Cell Lung

  • Lung Cancers

  • Lung Carcinomas

  • Cancer, Lung

  • Cancer, Lung, Non-Small Cell

  • Primary Malignant Neoplasm Of Lung

  • Bronchioloalveolar Adenocarcinoma

Basan Syndrome
  • Adermatoglyphia With Congenital Facial Milia And Acral Blisters, Digital Contractures, And Nail Abnormalities

  • Ectodermal Dysplasia, Absent Dermatoglyphic Pattern, Changes In Nails, And Simian Crease

  • Baird Syndrome

  • Absence Of Fingerprints-Congenital Milia Syndrome

  • Absence Of Fingerprints Congenital Milia

  • Absence Of Dermatoglyphics Congenital Milia

  • Absence Of Dermatoglyphics-Congenital Milia Syndrome

  • Basan-Baird Syndrome

  • BSNS

  • Adermatoglyphia, Congenital Facial Milia, Acral Blisters, Digital Contractures, Nail Abnormalities

Adrenal Carcinoma
  • Adrenal Cancer

  • Adrenal Gland Cancer

  • Malignant Neoplasm Of Adrenal Gland

  • Adrenal Gland Neoplasms

  • Carcinoma Of The Adrenal Gland

  • Adrenal Neoplasm

  • Malignant Adrenal Tumor

  • Neoplasm Of Adrenal Gland

  • Tumor Of The Adrenal Gland

  • Adrenal Gland Neoplasm

  • Adrenocortical Carcinoma

  • Adrenal Gland Malignancy

  • Suprarenal Cancer

  • Malignant Neoplasm Of Suprarenal Gland

  • Malignant Neoplasm Of Adrenal Gland, Unspecified

  • Malignant Tumour Of Adrenal Gland

  • Suprarenal Gland Cancer

  • Primary Malignant Neoplasm Of Adrenal Gland

Epithelioid Sarcoma
  • Epithelioid Cell Sarcoma

  • Sarcoma Epithelioid

  • Sarcoma, Epithelioid

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Epithelioid Malignant Peripheral Nerve Sheath Tumor
  • Epithelioid Mpnst

  • Malignant Epithelioid Neoplasm Of The Peripheral Nerve Sheath

Small Cell Carcinoma
  • Small Cell Carcinoma, Intermediate Cell

  • Intermediate Cell Small Cell Carcinoma

  • Small Cell Carcinoma - Intermediate Cell

  • Small Cell Carcinoma Of Lung

  • Carcinoma, Small Cell

Microphthalmia
  • Microphthalmos

  • Isolated Anophthalmia-Microphthalmia Syndrome

  • Isolated Microphthalmia-Anophthalmia-Coloboma

  • Simple Microphthalmos

  • Clinical Anophthalmia

  • Isolated Anophthalmia - Microphthalmia

  • Isolated Pure Microphthalmia

  • Mac Spectrum

  • Microphthalmia-Anophthalmia-Coloboma Spectrum

  • Primitive Anophthalmia

  • Globe Of Eye Small

  • Small Eyeball

  • Hypoplasia Of Eye

  • Isolated Nanophthalmos

  • Rudimentary Eye

  • Dysplasia Of Eye

Endometrioid Ovary Carcinoma
  • Endometrioid Carcinoma Of Ovary

  • Endometrioid Carcinoma Ovary

  • Ovarian Endometrioid Carcinoma

  • Malignant Ovarian Endometrioid Tumor

  • Ovarian Endometrioid Tumor

Malignant Teratoma
  • Immature Teratoma

  • Malignant Extragonadal Teratoma

  • Primary Malignant Extragonadal Teratoma

  • Teratoma, Malignant, Nos

  • Teratoma, Malignant

  • Immature Extragonadal Teratoma

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

Charge Syndrome
  • Charge Association

  • Hall-Hittner Syndrome

  • Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies

  • Hhs

  • Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies

  • Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome

  • CHARGES

Cystic Fibrosis
  • Mucoviscidosis

  • CF

  • Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

  • Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

  • Cystic Fibrosis Lung Disease, Modifier Of

  • Cystic Fibrosis Of Pancreas

  • Fibrocystic Disease Of Pancreas

  • Cf - [Cystic Fibrosis]

  • Cystic Fibrosis Nos

  • Fibrocystic Disease

  • Fibrocystic Disease Of The Pancreas

  • Mucoviscidosis Of Pancreas

  • Nonproliferative Fibrocystic Disease

  • Pancreatic Cystic Fibrosis

Rhabdomyosarcoma
Cartilage-Hair Hypoplasia
  • Metaphyseal Chondrodysplasia, Mckusick Type

  • CHH

  • Mckusick Type Metaphyseal Chondrodysplasia

  • Metaphyseal Dysplasia Without Hypotrichosis

  • Cartilage Hair Hypoplasia Like Syndrome

  • Metaphyseal Chondrodysplasia Mckusick Type

  • Chhv

  • Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only

  • Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency

  • Cartilage-Hair Syndrome

  • Mckusick'S Metaphyseal Chondrodysplasia Syndrome

  • Metaphyseal Chondrodysplasia, Recessive Type

  • Autosomal Recessive Metaphyseal Chondrodysplasia

Clear Cell Meningioma
Alpha-Thalassemia
  • Alpha Thalassemia

  • Alpha Thalassaemia

  • Alpha Plus Thalassemia

  • Thalassemia, Alpha-

  • Thalassemias, Alpha-

  • A-Thalassemia

  • Α-Thalassemia

  • A-THAL

  • Thalassemia

  • Alpha Thalassaemia Syndrome

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

Childhood Medulloblastoma
  • Medulloblastoma, Childhood

  • Pediatric Medulloblastoma

  • Medulloblastoma Childhood

Ovarian Cancer
  • Ovarian Carcinoma

  • Ovarian Neoplasm

  • Malignant Tumour Of Ovary

  • Cancer Of The Ovary

  • Epithelial Ovarian Cancer

  • Neoplasm Of Ovary

  • Ovarian Neoplasms

  • Ovarian Cancers

  • Malignant Neoplasm Of Ovary

  • Primary Malignant Neoplasm Of Ovary

  • Ovarian Cancer, Somatic

  • Malignant Ovarian Tumor

  • Ovary Neoplasm

  • Primary Ovarian Cancer

  • Tumor Of The Ovary

  • Malignant Neoplasm Of The Ovary

  • Malignant Tumor Of The Ovary

  • Ovarian Malignant Tumor

  • OC

  • Ovarian Carcinomas

  • Cancer, Ovarian

  • Cancer Of Ovary

  • Ovary Cancer

  • Ca Ovary

Hyperoxaluria, Primary, Type I
  • Primary Hyperoxaluria Type 1

  • HP1

  • Glycolic Aciduria

  • Alanine-Glyoxylate Aminotransferase Deficiency

  • Hepatic Agt Deficiency

  • Oxalosis I

  • Primary Hyperoxaluria, Type I

  • Serine:Pyruvate Aminotransferase Deficiency

  • Hyperoxaluria, Primary, Type 1

  • Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency

  • Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency

  • Serine Pyruvate Aminotransferase Deficiency

  • Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

  • Oxalosis 1

  • Hyperoxaluria Primary 1

  • Hyperoxaluria Primary Type I

  • Ph1

  • Primary Hyperoxaluria Type I

  • Oxalosis Type 1

  • 2-Oxoglutarate Glyoxylate Carboligase Deficiency

Kabuki Syndrome 1
  • Kabuki Syndrome

  • Niikawa-Kuroki Syndrome

  • Kabuki Make-Up Syndrome

  • Kms

  • KABUK1

  • Kabuki Make Up Syndrome

  • Nks

  • Kabuki Makeup Syndrome

  • Kabuki Syndrome, Type 1

Cockayne Syndrome B
  • Cockayne Syndrome Type 2

  • Cockayne Syndrome, Type B

  • Cockayne Syndrome Type Ii

  • CSB

  • Cockayne Syndrome 2

  • Cockayne Syndrome Type B

  • Ckn2

  • Cockayne Syndrome, Type Ii

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

Infratentorial Cancer
  • Infratentorial Neoplasms

  • Brain Neoplasm, Infratentorial

  • Malignant Infratentorial Tumors

Chromosome 16p13.3 Deletion Syndrome, Proximal
  • Rubinstein-Taybi Syndrome

  • Broad Thumb-Hallux Syndrome

  • Chromosome 16p13.3 Deletion Syndrome

  • Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion

  • Rubinstein Syndrome

  • Broad Thumbs-Halluces Syndrome

  • Rsts

  • Rubinstein-Taybi Deletion Syndrome

  • Rsts Deletion Syndrome

  • Proximal Chromosome 16p13.3 Deletion Syndrome

  • 16p13.3 Deletion Syndrome

  • Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability

  • Rts

Papillary Adenofibroma
Prostate Cancer
  • Prostate Carcinoma

  • Prostate Cancer, Familial

  • Prostate Neoplasm

  • Prostate Cancer, Somatic

  • Prostate Cancer, Susceptibility To

  • Prostatic Cancer

  • Prostatic Neoplasms

  • Hereditary Prostate Cancer

  • Prostatic Neoplasm

  • Cancer Of Prostate

  • Carcinoma Of Prostate

  • Familial Prostate Cancer

  • Familial Prostate Carcinoma

  • Malignant Tumor Of Prostate

  • Malignant Neoplasm Of Prostate

  • Prostate Cancer, Familial, Susceptibility To

  • Malignant Tumor Of The Prostate

  • Ngp - New Growth Of Prostate

  • Tumor Of The Prostate

  • Prostate Cancer, Hereditary

  • Cancer Of The Prostate

  • Malignant Neoplasm Of The Prostate

  • Prostatic Carcinoma

  • PC

  • Prca

  • Cancer, Prostate

  • Malignant Prostatic Tumour

  • Malignant Tumour Of Prostate

  • Primary Prostate Cancer

  • Primary Malignant Neoplasm Of Prostate

  • Prostate Gland Cancer

Sarcoma, Synovial
  • Synovial Sarcoma

  • Synovialosarcoma

  • Synovial Cell Sarcoma

  • Sarcoma Synovial

Developmental And Epileptic Encephalopathy 14
  • Malignant Migrating Partial Seizures Of Infancy

  • Eiee14

  • Epilepsy Of Infancy With Migrating Focal Seizures

  • Mmpsi

  • DEE14

  • Epileptic Encephalopathy, Early Infantile, 14

  • Early Infantile Epileptic Encephalopathy 14

  • Malignant Migrating Partial Epilepsy Of Infancy

  • Migrating Partial Epilepsy Of Infancy

  • Migrating Partial Seizures Of Infancy

  • Mmpei

  • Mpei

  • Mpsi

  • Malignant Migrating Focal Seizures Of Infancy

  • Migrating Partial Seizures In Infancy

  • Developmental And Epileptic Encephalopathy, 14

  • Encephalopathy, Epileptic, Early Infantile, Type 14

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

Patent Ductus Arteriosus 1
  • Patent Ductus Arteriosus

  • PDA1

  • Pda

  • Ductus Arteriosus, Patent

  • Patent Ductus Arteriosus, Susceptibility To

  • Patent Ductus Botalli

  • Patency Of The Ductus Arteriosus

  • Patent Ductus Arteriosus Familial

  • Ductus Arteriosus Patent

  • Patent Ductus Arteriosus - Persisting Type

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

Aortic Aneurysm, Familial Thoracic 1
  • Thoracic Aortic Aneurysm

  • Annuloaortic Ectasia

  • Familial Thoracic Aortic Aneurysm And Aortic Dissection

  • Familial Aortic Dissection

  • Familial Taad

  • Familial Thoracic Aortic Aneurysm

  • Congenital Aneurysm Of Ascending Aorta

  • Familial Aortic Aneurysm

  • Familial Thoracic Aortic Aneurysm And Dissection

  • Aortic Aneurysm, Thoracic

  • AAT1

  • Faa1

  • Aortic Dissection, Familial

  • Aortic Aneurysm, Familial Thoracic

  • Aneurysm, Thoracic Aortic

  • Faa

  • Ftaad

  • Taa

  • Taad

  • Cystic Medial Necrosis Of Aorta

  • Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

  • Aortic Aneurysm Thoracic

  • Familial Aortic Aneurysms

  • Aneurysm, Aortic, Thoracic, Familial, Type 1

  • Aneurysm Of Thoracic Aorta

  • Intrathoracic Aneurysm

  • Thoracic Aorta Aneurysm

  • Thoracic Aortic Aneurysm Without Rupture

  • Thoracic Aneurysm

  • Thorax Arterial Aneurysm

  • Thoracic Artery Aneurysm

  • Thoracic Arterial Aneurysm

  • Thorax Aneurysm

  • Thorax Aortic Aneurysm

  • Dissection Of Thoracic Aorta

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

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital 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
Rattus norvegicus SMARCA4 RGD RGD:621728
Canis familiaris SMARCA4 VGNC VGNC:46530
Macaca mulatta SMARCA4 VGNC VGNC:77648
Felis catus SMARCA4 VGNC VGNC:65464
Bos taurus SMARCA4 VGNC VGNC:34987
Mus musculus SMARCA4 MGD MGI:88192
Others SMARCA4 NCBI