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

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6595

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
12065415 GOA
enables transcription cis-regulatory region binding IDA
IDA: Inferred from direct assay
17984088 GOA
enables transcription coactivator activity IDA
IDA: Inferred from direct assay
17984088 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
12065415 GOA
involved in negative regulation of cell growth IMP
IMP: Inferred from mutant phenotype
12065415 GOA
involved in negative regulation of cell population proliferation IDA
IDA: Inferred from direct assay
14660596 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
17984088 GOA
involved in positive regulation of DNA-templated transcription IMP
IMP: Inferred from mutant phenotype
8208605 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
15774904 GOA
Cellular Component GO Annotation Evidence References Source
part of SWI/SNF complex IDA
IDA: Inferred from direct assay
11078522 GOA
located in chromatin IDA
IDA: Inferred from direct assay
12065415 GOA
located in nucleus IDA
IDA: Inferred from direct assay
17984088 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

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)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1590 a.a.
Protein Preferred Names Protein Names

probable global transcription activator SNF2L2

  • ATP-dependent helicase SMARCA2

SMARCA2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SMARCA2 P51531 MECP2 Homo sapiens P51608 15696166
Intra
SMARCA2 P51531 MECP2 Homo sapiens P51608 15696166
Intra
SMARCA2 P51531 ARID1A Homo sapiens O14497 12200431
Intra
SMARCA2 P51531 ARID1B Homo sapiens Q8NFD5 12200431
Intra
SMARCA2 P51531 SDCBP Homo sapiens O00560 25910212
Cross
SMARCA2 P51531 tat Human immunodeficiency virus P04326 16601680
Cross
SMARCA2 P51531 tat Human immunodeficiency virus P04326 16601680
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SMARCA2 Proteins

Cat. No. Product Name Accession Purity
HY-P7985 SMARCA2 Protein, Human (P.pastoris, His) P51531 (S700-F1216) ≥ 90%, as determined by reducing SDS-PAGE.

SMARCA2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83496 SMARCA2 Antibody (YA3241) WB, IHC-P, ICC/IF, FC Human, Mouse
HY-P83496A SMARCA2 Antibody (YA3241)(PBS only) WB, IHC-P, ICC/IF, FC Human, Mouse

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
Others SMARCA2 NCBI