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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 6-Nov-2022

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
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Genomic context

See SMARCC2 in Genome Data Viewer
Location:
12q13.2
Exon count:
30
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (56162359..56189483, complement)
110 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 myosin light chain 6B Neighboring gene myosin light chain 6 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

Homology

Clone Names

  • DKFZp313D0632

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables histone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IC
Inferred by Curator
more info
PubMed 
involved_in chromatin remodeling IDA
Inferred from Direct Assay
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
PubMed 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of T cell differentiation IC
Inferred by Curator
more info
PubMed 
involved_in positive regulation of cell differentiation IC
Inferred by Curator
more info
PubMed 
involved_in positive regulation of double-strand break repair IC
Inferred by Curator
more info
PubMed 
involved_in positive regulation of myoblast differentiation IC
Inferred by Curator
more info
PubMed 
involved_in regulation of G0 to G1 transition IC
Inferred by Curator
more info
PubMed 
involved_in regulation of G1/S transition of mitotic cell cycle IC
Inferred by Curator
more info
PubMed 
involved_in regulation of mitotic metaphase/anaphase transition IC
Inferred by Curator
more info
PubMed 
involved_in regulation of nucleotide-excision repair IC
Inferred by Curator
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IC
Inferred by Curator
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 IC
Inferred by Curator
more info
PubMed 
part_of SWI/SNF complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of SWI/SNF complex IC
Inferred by Curator
more info
PubMed 
part_of SWI/SNF complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of bBAF complex IC
Inferred by Curator
more info
PubMed 
part_of brahma complex IC
Inferred by Curator
more info
PubMed 
located_in chromatin HDA PubMed 
located_in chromatin IC
Inferred by Curator
more info
PubMed 
located_in kinetochore IC
Inferred by Curator
more info
PubMed 
part_of nBAF complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of nBAF complex IC
Inferred by Curator
more info
PubMed 
part_of nBAF complex ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of npBAF complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of npBAF complex IC
Inferred by Curator
more info
PubMed 
part_of npBAF complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nuclear matrix IC
Inferred by Curator
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/Swiss-Prot
    Q8TAQ2
    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/Swiss-Prot
    Q8TAQ2
    UniProtKB/TrEMBL
    F8VXC8
    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
    Q8TAQ2, Q96GY4
    UniProtKB/TrEMBL
    A0A024RB22
    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/Swiss-Prot
    Q8TAQ2
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

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

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

    See identical proteins and their annotated locations for XP_005269160.1

    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

    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

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

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

    See identical proteins and their annotated locations for XP_005269161.1

    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

    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)