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    SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 [ Homo sapiens (human) ]

    Gene ID: 6601, updated on 7-Jul-2024

    Summary

    Official Symbol
    SMARCC2provided by HGNC
    Official Full Name
    SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2provided by HGNC
    Primary source
    HGNC:HGNC:11105
    See related
    Ensembl:ENSG00000139613 MIM:601734; AllianceGenome:HGNC:11105
    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
    CSS8; Rsc8; BAF170; CRACC2
    Summary
    The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which 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 and contains a predicted leucine zipper motif typical of many transcription factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 28.0), ovary (RPKM 22.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SMARCC2 in Genome Data Viewer
    Location:
    12q13.2
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (56162359..56189483, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (56129971..56157086, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56556143..56583267, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902943 Neighboring gene uncharacterized LOC124902942 Neighboring gene MYL6B antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6477 Neighboring gene myosin light chain 6B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4546 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6479 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56554412-56555034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56555035-56555655 Neighboring gene myosin light chain 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4548 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4549 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6480 Neighboring gene uncharacterized LOC107984468 Neighboring gene tRNA-Ser (anticodon CGA) 4-1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Most of the components of the SWI2/SNF2 chromatin remodeling complex (BRG1/BRM, BAF250, BAF180, BAF170, BAF155, BAF60a, BAF53A, actin and InI) except BRM, BAF155 and BAF57, are identified to interact with HIV-1 Tat in Jurkat cell PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp313D0632

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to nucleosomal DNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription coactivator activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in chromatin remodeling HDA PubMed 
    involved_in chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chromatin remodeling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nucleosome disassembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of T cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of double-strand break repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of myoblast differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of G0 to G1 transition NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of G1/S transition of mitotic cell cycle NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of mitotic metaphase/anaphase transition NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of nucleotide-excision repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of RSC-type complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of SWI/SNF complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of SWI/SNF complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of SWI/SNF complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of bBAF complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of brahma complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of chromatin HDA PubMed 
    part_of chromatin NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in kinetochore NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of nBAF complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of nBAF complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of nBAF complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of npBAF complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of npBAF complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of npBAF complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nuclear matrix NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    part_of protein-containing complex HDA PubMed 

    General protein information

    Preferred Names
    SWI/SNF complex subunit SMARCC2
    Names
    SWI/SNF complex 170 kDa subunit
    SWI3-like protein
    chromatin remodeling complex BAF170 subunit
    mammalian chromatin remodeling complex BRG1-associated factor 170

    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_047081.1 RefSeqGene

      Range
      5085..32209
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130420.3NP_001123892.1  SWI/SNF complex subunit SMARCC2 isoform c

      See identical proteins and their annotated locations for NP_001123892.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate in-frame exon in the central coding region and contains alternate in-frame segment in the 3' coding region, compared to variant 1. The encoded isoform (c), contains a novel internal segment, lacks a segment near the C-terminus, and is shorter than isoform a.
      Source sequence(s)
      AB209006, BM875330, CX165574
      Consensus CDS
      CCDS55835.1
      UniProtKB/TrEMBL
      Q59G16
      Related
      ENSP00000377591.3, ENST00000394023.7
      Conserved Domains (6) summary
      PTZ00121
      Location:721978
      PTZ00121; MAEBL; Provisional
      COG5259
      Location:379739
      RSC8; RSC chromatin remodeling complex subunit RSC8 [Chromatin structure and dynamics / Transcription]
      PRK07003
      Location:10061141
      PRK07003; DNA polymerase III subunit gamma/tau
      pfam16495
      Location:911977
      SWIRM-assoc_1; SWIRM-associated region 1
      pfam16496
      Location:7420
      SWIRM-assoc_2; SWIRM-associated domain at the N-terminal
      pfam16498
      Location:715779
      SWIRM-assoc_3; SWIRM-associated domain at the C-terminal
    2. NM_001330288.2NP_001317217.1  SWI/SNF complex subunit SMARCC2 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate in-frame exon in the central coding region compared to variant 1. The encoded isoform (d), contains the same N- and C-termini, but is longer than isoform a.
      Source sequence(s)
      AK315153, BC009067, BM875330, CX165574, DA768316, HY118539
      Consensus CDS
      CCDS81698.1
      UniProtKB/TrEMBL
      F8VXC8, Q59G16
      Related
      ENSP00000449396.1, ENST00000550164.6
      Conserved Domains (6) summary
      pfam16495
      Location:911977
      SWIRM-assoc_1; SWIRM-associated region 1
      pfam16496
      Location:4420
      SWIRM-assoc_2; SWIRM-associated domain at the N-terminal
      pfam16498
      Location:715779
      SWIRM-assoc_3; SWIRM-associated domain at the C-terminal
      cl26464
      Location:9991234
      Atrophin-1; Atrophin-1 family
      cl26511
      Location:721978
      Neuromodulin_N; Gap junction protein N-terminal region
      cl27154
      Location:379739
      SWIRM; SWIRM domain
    3. NM_003075.5NP_003066.2  SWI/SNF complex subunit SMARCC2 isoform a

      See identical proteins and their annotated locations for NP_003066.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AK315153, BC009067, BM875330, CX165574, HY118539
      Consensus CDS
      CCDS8907.1
      UniProtKB/Swiss-Prot
      F8VTJ5, Q59GV3, Q8TAQ2, Q92923, Q96E12, Q96GY4
      UniProtKB/TrEMBL
      Q59G16
      Related
      ENSP00000267064.4, ENST00000267064.8
      Conserved Domains (6) summary
      PTZ00121
      Location:690947
      PTZ00121; MAEBL; Provisional
      PHA03247
      Location:9681203
      PHA03247; large tegument protein UL36; Provisional
      COG5259
      Location:379708
      RSC8; RSC chromatin remodeling complex subunit RSC8 [Chromatin structure and dynamics / Transcription]
      pfam16495
      Location:880946
      SWIRM-assoc_1; SWIRM-associated region 1
      pfam16496
      Location:7420
      SWIRM-assoc_2; SWIRM-associated domain at the N-terminal
      pfam16498
      Location:684748
      SWIRM-assoc_3; SWIRM-associated domain at the C-terminal
    4. NM_139067.4NP_620706.1  SWI/SNF complex subunit SMARCC2 isoform b

      See identical proteins and their annotated locations for NP_620706.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate in-frame exon in the central coding region and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (b), contains a novel internal segment, lacks a segment near the C-terminus, and is shorter than isoform a.
      Source sequence(s)
      AB209006, BM875330, CX165574
      Consensus CDS
      CCDS8908.1
      UniProtKB/TrEMBL
      Q59G16
      Related
      ENSP00000302919.4, ENST00000347471.8
      Conserved Domains (5) summary
      PTZ00121
      Location:721978
      PTZ00121; MAEBL; Provisional
      COG5259
      Location:379739
      RSC8; RSC chromatin remodeling complex subunit RSC8 [Chromatin structure and dynamics / Transcription]
      pfam16495
      Location:911977
      SWIRM-assoc_1; SWIRM-associated region 1
      pfam16496
      Location:7420
      SWIRM-assoc_2; SWIRM-associated domain at the N-terminal
      pfam16498
      Location:715779
      SWIRM-assoc_3; SWIRM-associated domain at the C-terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      56162359..56189483 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429448.1XP_047285404.1  SWI/SNF complex subunit SMARCC2 isoform X8

      UniProtKB/TrEMBL
      Q59G16
    2. XM_047429447.1XP_047285403.1  SWI/SNF complex subunit SMARCC2 isoform X6

      UniProtKB/TrEMBL
      Q59G16
    3. XM_005269103.3XP_005269160.1  SWI/SNF complex subunit SMARCC2 isoform X2

      See identical proteins and their annotated locations for XP_005269160.1

      UniProtKB/TrEMBL
      Q59G16
      Conserved Domains (5) summary
      COG5259
      Location:379707
      RSC8; RSC chromatin remodeling complex subunit RSC8 [Chromatin structure and dynamics / Transcription]
      pfam04433
      Location:427512
      SWIRM; SWIRM domain
      pfam16495
      Location:879945
      SWIRM-assoc_1; SWIRM-associated region 1
      pfam16496
      Location:4420
      SWIRM-assoc_2; SWIRM-associated domain at the N-terminal
      pfam16498
      Location:683747
      SWIRM-assoc_3; SWIRM-associated domain at the C-terminal
    4. XM_017019886.2XP_016875375.1  SWI/SNF complex subunit SMARCC2 isoform X7

      UniProtKB/TrEMBL
      Q59G16
      Conserved Domains (5) summary
      PTZ00121
      Location:690947
      PTZ00121; MAEBL; Provisional
      COG5259
      Location:379708
      RSC8; RSC chromatin remodeling complex subunit RSC8 [Chromatin structure and dynamics / Transcription]
      pfam16495
      Location:880946
      SWIRM-assoc_1; SWIRM-associated region 1
      pfam16496
      Location:7420
      SWIRM-assoc_2; SWIRM-associated domain at the N-terminal
      pfam16498
      Location:684748
      SWIRM-assoc_3; SWIRM-associated domain at the C-terminal
    5. XM_017019885.2XP_016875374.1  SWI/SNF complex subunit SMARCC2 isoform X5

      UniProtKB/TrEMBL
      Q59G16
    6. XM_017019884.2XP_016875373.1  SWI/SNF complex subunit SMARCC2 isoform X4

      UniProtKB/TrEMBL
      Q59G16
    7. XM_005269104.2XP_005269161.1  SWI/SNF complex subunit SMARCC2 isoform X3

      See identical proteins and their annotated locations for XP_005269161.1

      UniProtKB/TrEMBL
      Q59G16
      Conserved Domains (6) summary
      PTZ00121
      Location:720977
      PTZ00121; MAEBL; Provisional
      COG5259
      Location:379738
      RSC8; RSC chromatin remodeling complex subunit RSC8 [Chromatin structure and dynamics / Transcription]
      PRK07003
      Location:10051140
      PRK07003; DNA polymerase III subunit gamma/tau
      pfam16495
      Location:910976
      SWIRM-assoc_1; SWIRM-associated region 1
      pfam16496
      Location:7420
      SWIRM-assoc_2; SWIRM-associated domain at the N-terminal
      pfam16498
      Location:714778
      SWIRM-assoc_3; SWIRM-associated domain at the C-terminal
    8. XM_005269102.3XP_005269159.1  SWI/SNF complex subunit SMARCC2 isoform X1

      See identical proteins and their annotated locations for XP_005269159.1

      UniProtKB/TrEMBL
      Q59G16
      Conserved Domains (5) summary
      COG5259
      Location:379738
      RSC8; RSC chromatin remodeling complex subunit RSC8 [Chromatin structure and dynamics / Transcription]
      pfam04433
      Location:427512
      SWIRM; SWIRM domain
      pfam16495
      Location:910976
      SWIRM-assoc_1; SWIRM-associated region 1
      pfam16496
      Location:4420
      SWIRM-assoc_2; SWIRM-associated domain at the N-terminal
      pfam16498
      Location:714778
      SWIRM-assoc_3; SWIRM-associated domain at the C-terminal
    9. XM_047429449.1XP_047285405.1  SWI/SNF complex subunit SMARCC2 isoform X9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      56129971..56157086 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373046.1XP_054229021.1  SWI/SNF complex subunit SMARCC2 isoform X8

      UniProtKB/TrEMBL
      Q59G16
    2. XM_054373044.1XP_054229019.1  SWI/SNF complex subunit SMARCC2 isoform X6

      UniProtKB/TrEMBL
      Q59G16
    3. XM_054373040.1XP_054229015.1  SWI/SNF complex subunit SMARCC2 isoform X2

      UniProtKB/TrEMBL
      Q59G16
    4. XM_054373045.1XP_054229020.1  SWI/SNF complex subunit SMARCC2 isoform X7

      UniProtKB/TrEMBL
      Q59G16
    5. XM_054373043.1XP_054229018.1  SWI/SNF complex subunit SMARCC2 isoform X5

      UniProtKB/TrEMBL
      Q59G16
    6. XM_054373042.1XP_054229017.1  SWI/SNF complex subunit SMARCC2 isoform X4

      UniProtKB/TrEMBL
      Q59G16
    7. XM_054373041.1XP_054229016.1  SWI/SNF complex subunit SMARCC2 isoform X3

      UniProtKB/TrEMBL
      Q59G16
    8. XM_054373039.1XP_054229014.1  SWI/SNF complex subunit SMARCC2 isoform X1

      UniProtKB/TrEMBL
      Q59G16
    9. XM_054373047.1XP_054229022.1  SWI/SNF complex subunit SMARCC2 isoform X9