1. Gene
  2. SMARCA2 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 Gene

SMARCA2 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 Gene

Homo sapiens

Also known as BIS; BRM; SNF2; SWI2; hBRM; NCBRS; Sth1p; BAF190; SNF2L2; SNF2LA; hSNF2a

Gene ID: 6595 | Gene type: protein coding

About SMARCA2

Cytogenetic location: 9p24.3 Genomic coordinates (GRCh38): 9:2,015,347-2,193,624 (from NCBI)

This gene has 72 transcripts (splice variants), 213 orthologues, 30 paralogues and is associated with 5 phenotypes. Ubiquitous expression in ovary (RPKM 42.5), testis (RPKM 29.4) and 25 other tissues.

Summary

The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [provided by RefSeq, Jan 2014]

SMARCA2 Products(7)

mRNA Protein Name
NM_001289396.1 NP_001276325.1 probable global transcription activator SNF2L2 isoform a
NM_001289397.2 NP_001276326.1 probable global transcription activator SNF2L2 isoform c
NM_001289398.2 NP_001276327.1 probable global transcription activator SNF2L2 isoform d
NM_001289399.1 NP_001276328.1 probable global transcription activator SNF2L2 isoform e precursor
NM_001289400.1 NP_001276329.1 probable global transcription activator SNF2L2 isoform f precursor
NM_003070.5 NP_003061.3 probable global transcription activator SNF2L2 isoform a
NM_139045.4 NP_620614.2 probable global transcription activator SNF2L2 isoform b

SMARCA2 Protein Structure

QLQ

QLQ: QLQ (172 - 207)

HSA

HSA: HSA (436 - 508)

BRK

BRK: BRK domain (588 - 633)

SNF2_N

SNF2_N: SNF2 family N-terminal domain (727 - 1021)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (1089 - 1164)

SnAC

SnAC: Snf2-ATP coupling, chromatin remodelling complex (1259 - 1326)

Bromodomain

Bromodomain: Bromodomain (1417 - 1492)

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  • 1590 a.a.
Protein Preferred Names Protein Names

probable global transcription activator SNF2L2

ATP-dependent helicase SMARCA2

Related Diseases

Diseases Alias
Nicolaides-Baraitser Syndrome

NCBRS

Nbs

Sparse Hair And Mental Retardation

Sparse Hair And Intellectual Disability

Intellectual Disability-Sparse Hair-Brachydactyly Syndrome

Nicolaides Baraitser Syndrome

Blepharophimosis-Impaired Intellectual Development Syndrome

BIS

Ohdo Syndrome

Young Simpson Syndrome

Ohdo Blepharophimosis Syndrome

Blepharophimosis Syndrome Ohdo Type

Blepharophimosis Intellectual Disability Syndromes

Bmrs

Blepharophimosis-Intellectual Disability Syndrome

Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth

Sbbys Syndrome

Say Barber Biesecker Young-Simpson Syndrome

Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type

Bmrs, Ohdo Type

Blepharophimosis Syndrome, Ohdo Type

Ohdo-Madokoro-Sonoda Syndrome

Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type

Blepharophimosis - Intellectual Disability Syndrome

Blepharophimosis
Pituitary Stalk Interruption Syndrome

Ectopic Neurohypophysis

Psis

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

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

Smarca4-Deficient Sarcoma Of Thorax

Smarca4-Dts

Smarca4-Deficient Thoracic Sarcoma

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

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

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

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

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

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

Cockayne Syndrome

Cockayne'S Syndrome

Dwarfism-Retinal Atrophy-Deafness Syndrome

Neill-Dingwall Syndrome

Progeria-Like Syndrome

Progeroid Nanism

Cs

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

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

Psychotic Disorder

Psychotic Disorders

Mental Or Behavioural Disorder

Psychotic

Mental Disorders

Ovarian Small Cell Carcinoma

Small Cell Carcinoma Of The Ovary

Scco

Small Cell Ovarian Carcinoma

Bartholin'S Gland Adenoid Cystic Carcinoma

Bartholin Gland Adenoid Cystic Carcinoma

Schizophrenia 7

SCZD7

Schizophrenia Susceptibility Locus, Chromosome 13q-Related

Schizophrenia 7 With Or Without An Affective Disorder

Sinonasal Undifferentiated Carcinoma

Highly Aggressive Undifferentiated Carcinoma Of The Nasal Cavity And Paranasal Sinuses

Snuc

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

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

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

Adenoid Cystic Carcinoma

Adenocystic Carcinoma

Cribriform Carcinoma

Cylindroma

Carcinoma Adenoid Cystic

Carcinoma, Adenoid Cystic

Adenoid Cystic Carcinoma Of Salivary Gland

Eccrine Dermal Cylindroma

Carcinoma, Cribriform

Large Cell Carcinoma With Rhabdoid Phenotype

Large Cell Lung Carcinoma With Rhabdoid Phenotype

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Syndromic X-Linked Intellectual Disability Nascimento Type

Mental Retardation, X-Linked Syndromic, Nascimento-Type

X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome

Ovarian Endometrial Cancer

Endometrioid Neoplasm Of Ovary

Malignant Ovarian Endometrioid Tumor

Ovarian Endometrioid Neoplasm

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

Brachydactyly
Atypical Neurofibroma
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

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

Non-Syndromic X-Linked Intellectual Disability 93

Mrx93

X-Linked Mental Retardation With Macrocephaly

Ovarian Clear Cell Carcinoma

Clear-Cell Ovarian Carcinoma

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

Bladder Urothelial Carcinoma

Bladder Transitional Cell Carcinoma

Transitional Cell Carcinoma Of Bladder

Transitional Cell Carcinoma Of The Bladder

Urinary Bladder Urothelial Carcinoma

Urothelial Bladder Carcinoma

Carcinoma Transitional Cell Bladder

Tcc - [Transitional Cell Carcinoma] Of Bladder

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

Schizoaffective Disorder

Schizo-Affective Psychosis

Schizo-Affective Type Schizophrenia

Schizoaffective Psychosis

Schizoaffective Schizophrenia

Schizophrenia, Schizo-Affective Type

Schizophreniform Psychosis, Affective Type

Spondyloepimetaphyseal Dysplasia

Dysplasia, Spondyloepimetaphyseal

Alpha-Thalassemia

Alpha Thalassemia

Alpha Thalassaemia

Alpha Plus Thalassemia

Thalassemia, Alpha-

Thalassemias, Alpha-

A-Thalassemia

Α-Thalassemia

A-THAL

Thalassemia

Alpha Thalassaemia Syndrome

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]

Borjeson-Forssman-Lehmann Syndrome

BFLS

Borj

Borjeson Syndrome

Mrxsbfl

Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome

Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome

Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type

Mental Retardation, Epilepsy, And Endocrine Disorders

Mental Retardation, Epilepsy, And Endocrine Disorder

Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type

Mental Deficiency, Epilepsy And Endocrine Disorders

Boerjeson-Forssman-Lehmann Syndrome

Borjeson-Forssman Syndrome

Mental Deficiency-Epilepsy- Endocrine Disorders

Schizophrenia 12

Sczd12

Schizophrenia Susceptibility Locus, Chromosome 1p-Related

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

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

Familial Isolated Trichomegaly

Long Eyelashes

Tcmgly

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

Uv-Sensitive Syndrome

Uvss

Uv Sensitive Syndrome

Ultraviolet Sensitive Syndrome

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

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

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

Hypertrichosis
Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

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
Macaca mulatta SMARCA2 VGNC VGNC:77647
Mus musculus SMARCA2 MGD MGI:99603
Rattus norvegicus SMARCA2 RGD RGD:1302988
Bos taurus SMARCA2 VGNC VGNC:34986
Canis familiaris SMARCA2 VGNC VGNC:46529
Felis catus SMARCA2 VGNC VGNC:65463