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    SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 [ Homo sapiens (human) ]

    Gene ID: 6595, updated on 10-Dec-2024

    Summary

    Official Symbol
    SMARCA2provided by HGNC
    Official Full Name
    SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2provided by HGNC
    Primary source
    HGNC:HGNC:11098
    See related
    Ensembl:ENSG00000080503 MIM:600014; AllianceGenome:HGNC:11098
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BIS; BRM; SNF2; SWI2; hBRM; NCBRS; Sth1p; BAF190; SNF2L2; SNF2LA; hSNF2a
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 42.5), testis (RPKM 29.4) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SMARCA2 in Genome Data Viewer
    Location:
    9p24.3
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (2015347..2193620)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (2017871..2196083)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (2015347..2193620)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723803 Neighboring gene RNA, 5S ribosomal pseudogene 279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28123 Neighboring gene OCT4 hESC enhancer GRCh37_chr9:1515455-1515956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28125 Neighboring gene uncharacterized LOC105375951 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28127 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:1771313-1771814 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28131 Neighboring gene uncharacterized LOC105375952 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:1928727-1929926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28134 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19728 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:2015793-2016349 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19729 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19731 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:2018973-2019571 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28135 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:2039759-2040308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28136 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:2135791-2136058 Neighboring gene uncharacterized LOC107987043 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:2200432-2201008 Neighboring gene RNA, U2 small nuclear 25, pseudogene Neighboring gene VISTA enhancer hs1743 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:2260567-2261766 Neighboring gene RNA, 7SL, cytoplasmic 592, pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:2280415-2281039 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:2281040-2281664 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:2282916-2283540 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:2283541-2284165 Neighboring gene uncharacterized LOC105375955

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (47 hits/1278 screens)

    Associated conditions

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2013-03-27)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2013-03-27)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
    EBI GWAS Catalog
    Common variants at 1p36 are associated with superior frontal gyrus volume.
    EBI GWAS Catalog
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Brm-type SWI/SNF chromatin remodeling complex is required for the occasional transcriptional elongation of the HIV-1 provirus in the absence of Tat and for the reactivation of proviral expression from HIV-1 latently infected cells PubMed
    tat HIV-1 Tat interacts directly with BRM, a DNA-dependent ATPase subunit of the SWI/SNF chromatin-remodeling complex, to activate the HIV-1 LTR, and this interaction is regulated by Tat lysine 50 acetylation PubMed
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2) at amino acid residues 616-617 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ36757, MGC74511

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding  
    enables ATP-dependent activity, acting on DNA PubMed 
    enables DNA binding  
    enables chromatin binding  
    enables helicase activity  
    enables histone binding  
    enables hydrolase activity  
    enables nucleosome array spacer activity  
    enables protein binding PubMed 
    enables transcription cis-regulatory region binding PubMed 
    enables transcription coactivator activity PubMed 
    Items 1 - 25 of 27
    Process Evidence Code Pubs
    involved_in chromatin remodeling PubMed 
    involved_in chromatin remodeling PubMed 
    involved_in heterochromatin formation  
    involved_in negative regulation of DNA-templated transcription PubMed 
    involved_in negative regulation of cell differentiation PubMed 
    involved_in negative regulation of cell growth PubMed 
    involved_in negative regulation of cell population proliferation PubMed 
    involved_in negative regulation of transcription by RNA polymerase II PubMed 
    involved_in nervous system development  
    involved_in positive regulation of DNA-templated transcription PubMed 
    involved_in positive regulation of DNA-templated transcription PubMed 
    involved_in positive regulation of T cell differentiation PubMed 
    involved_in positive regulation of cell differentiation PubMed 
    involved_in positive regulation of cell population proliferation PubMed 
    involved_in positive regulation of double-strand break repair PubMed 
    involved_in positive regulation of myoblast differentiation PubMed 
    involved_in positive regulation of stem cell population maintenance PubMed 
    involved_in positive regulation of transcription by RNA polymerase II  
    involved_in positive regulation of transcription by RNA polymerase II PubMed 
    involved_in positive regulation of transcription by RNA polymerase II PubMed 
    involved_in regulation of DNA-templated transcription PubMed 
    involved_in regulation of G0 to G1 transition PubMed 
    involved_in regulation of G1/S transition of mitotic cell cycle PubMed 
    involved_in regulation of mitotic metaphase/anaphase transition PubMed 
    involved_in regulation of nucleotide-excision repair PubMed 
    involved_in regulation of transcription by RNA polymerase II PubMed 
    involved_in spermatid development  
    Items 1 - 25 of 27
    Component Evidence Code Pubs
    part_of GBAF complex PubMed 
    part_of SWI/SNF complex PubMed 
    part_of bBAF complex PubMed 
    part_of brahma complex PubMed 
    located_in chromatin  
    located_in chromatin PubMed 
    located_in chromatin PubMed 
    located_in intermediate filament cytoskeleton  
    located_in intracellular membrane-bounded organelle  
    part_of nBAF complex  
    part_of nBAF complex PubMed 
    part_of npBAF complex  
    part_of npBAF complex PubMed 
    located_in nucleoplasm  
    located_in nucleoplasm  
    is_active_in nucleus  
    located_in nucleus PubMed 

    General protein information

    Preferred Names
    probable global transcription activator SNF2L2
    Names
    ATP-dependent helicase SMARCA2
    BAF190B
    BRG1-associated factor 190B
    SNF2-alpha
    SNF2/SWI2-like protein 2
    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
    SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a2
    brahma homolog
    global transcription activator homologous sequence
    protein brahma homolog
    putative global transcription activator SNF2L2
    sucrose nonfermenting 2-like protein 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032162.2 RefSeqGene

      Range
      40058..218331
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_882

    mRNA and Protein(s)

    1. NM_001289396.2 → NP_001276325.1  probable global transcription activator SNF2L2 isoform a

      See identical proteins and their annotated locations for NP_001276325.1

      Status: REVIEWED

      Source sequence(s)
      AL138755, AL359076
      Consensus CDS
      CCDS34977.1
      UniProtKB/Swiss-Prot
      B1ALG3, B1ALG4, D3DRH4, D3DRH5, P51531
      UniProtKB/TrEMBL
      A0A0U1RQZ9
      Related
      ENSP00000371638.1, ENST00000382203.5
      Conserved Domains (10) summary
      cd05516
      Location:1382 → 1506
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:590 → 632
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:436 → 508
      HSA; domain in helicases and associated with SANT domains
      cd00046
      Location:744 → 883
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      pfam08430
      Location:40 → 174
      Forkhead_N; Forkhead N-terminal region
      pfam00176
      Location:727 → 1022
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:1049 → 1164
      Helicase_C; Helicase conserved C-terminal domain
      pfam08880
      Location:173 → 207
      QLQ; QLQ
      pfam14619
      Location:1259 → 1326
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl02556
      Location:1333 → 1419
      Bromodomain; Bromodomain. Bromodomains are found in many chromatin-associated proteins and in nuclear histone acetyltransferases. They interact specifically with acetylated lysine.
    2. NM_001289397.2 → NP_001276326.1  probable global transcription activator SNF2L2 isoform c

      Status: REVIEWED

      Source sequence(s)
      BC068252, CA313181, D26155
      Consensus CDS
      CCDS83338.1
      UniProtKB/TrEMBL
      A0A0U1RQZ9, F6VDE0
      Related
      ENSP00000392081.2, ENST00000450198.6
      Conserved Domains (10) summary
      cd05516
      Location:1324 → 1430
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:590 → 632
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:436 → 508
      HSA; domain in helicases and associated with SANT domains
      cd00046
      Location:744 → 872
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      pfam08430
      Location:40 → 174
      Forkhead_N; Forkhead N-terminal region
      pfam00176
      Location:727 → 964
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:991 → 1106
      Helicase_C; Helicase conserved C-terminal domain
      pfam08880
      Location:173 → 207
      QLQ; QLQ
      pfam14619
      Location:1201 → 1268
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl02556
      Location:1275 → 1337
      Bromodomain; Bromodomain. Bromodomains are found in many chromatin-associated proteins and in nuclear histone acetyltransferases. They interact specifically with acetylated lysine.
    3. NM_001289398.2 → NP_001276327.1  probable global transcription activator SNF2L2 isoform d

      Status: REVIEWED

      Source sequence(s)
      AL138755, BI758293, CA313181, CD107405, CD513892, DA084762, DA823500
      Consensus CDS
      CCDS75807.1
      UniProtKB/TrEMBL
      F6T8Q0
      Related
      ENSP00000324770.6, ENST00000324954.10
      Conserved Domains (2) summary
      cd05516
      Location:58 → 164
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      cl02556
      Location:9 → 71
      Bromodomain; Bromodomain. Bromodomains are found in many chromatin-associated proteins and in nuclear histone acetyltransferases. They interact specifically with acetylated lysine.
    4. NM_001289399.2 → NP_001276328.1  probable global transcription activator SNF2L2 isoform e precursor

      See identical proteins and their annotated locations for NP_001276328.1

      Status: REVIEWED

      Source sequence(s)
      AL138755
      Consensus CDS
      CCDS83339.1
      UniProtKB/TrEMBL
      B4DNT1, F6XG14
      Related
      ENSP00000371620.2, ENST00000382185.6
      Conserved Domains (2) summary
      cd05516
      Location:86 → 192
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      cl02556
      Location:37 → 99
      Bromodomain; Bromodomain. Bromodomains are found in many chromatin-associated proteins and in nuclear histone acetyltransferases. They interact specifically with acetylated lysine.
    5. NM_001289400.2 → NP_001276329.1  probable global transcription activator SNF2L2 isoform f precursor

      Status: REVIEWED

      Source sequence(s)
      AL138755
      Consensus CDS
      CCDS75808.1
      UniProtKB/TrEMBL
      B1ALF6
      Related
      ENSP00000305411.3, ENST00000302401.8
      Conserved Domains (2) summary
      cd05516
      Location:88 → 194
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      cl02556
      Location:39 → 101
      Bromodomain; Bromodomain. Bromodomains are found in many chromatin-associated proteins and in nuclear histone acetyltransferases. They interact specifically with acetylated lysine.
    6. NM_003070.5 → NP_003061.3  probable global transcription activator SNF2L2 isoform a

      See identical proteins and their annotated locations for NP_003061.3

      Status: REVIEWED

      Source sequence(s)
      AK094076, AL558829, BC040029, BC066596, BC068252, X72889
      Consensus CDS
      CCDS34977.1
      UniProtKB/Swiss-Prot
      B1ALG3, B1ALG4, D3DRH4, D3DRH5, P51531
      UniProtKB/TrEMBL
      A0A0U1RQZ9
      Related
      ENSP00000265773.5, ENST00000349721.8
      Conserved Domains (10) summary
      cd05516
      Location:1382 → 1506
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:590 → 632
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:436 → 508
      HSA; domain in helicases and associated with SANT domains
      cd00046
      Location:744 → 883
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      pfam08430
      Location:40 → 174
      Forkhead_N; Forkhead N-terminal region
      pfam00176
      Location:727 → 1022
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:1049 → 1164
      Helicase_C; Helicase conserved C-terminal domain
      pfam08880
      Location:173 → 207
      QLQ; QLQ
      pfam14619
      Location:1259 → 1326
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl02556
      Location:1333 → 1419
      Bromodomain; Bromodomain. Bromodomains are found in many chromatin-associated proteins and in nuclear histone acetyltransferases. They interact specifically with acetylated lysine.
    7. NM_139045.4 → NP_620614.2  probable global transcription activator SNF2L2 isoform b

      See identical proteins and their annotated locations for NP_620614.2

      Status: REVIEWED

      Source sequence(s)
      AK094076, BC040029, BC066596, BC068252, X72889
      Consensus CDS
      CCDS34978.1
      UniProtKB/TrEMBL
      A0A0U1RQZ9
      Related
      ENSP00000349788.2, ENST00000357248.8
      Conserved Domains (10) summary
      cd05516
      Location:1382 → 1488
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:590 → 632
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:436 → 508
      HSA; domain in helicases and associated with SANT domains
      cd00046
      Location:744 → 883
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      pfam08430
      Location:40 → 174
      Forkhead_N; Forkhead N-terminal region
      pfam00176
      Location:727 → 1022
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:1049 → 1164
      Helicase_C; Helicase conserved C-terminal domain
      pfam08880
      Location:173 → 207
      QLQ; QLQ
      pfam14619
      Location:1259 → 1326
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl02556
      Location:1333 → 1395
      Bromodomain; Bromodomain. Bromodomains are found in many chromatin-associated proteins and in nuclear histone acetyltransferases. They interact specifically with acetylated lysine.

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      2015347..2193620
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      2017871..2196083
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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