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SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 [ Homo sapiens (human) ]

Gene ID: 6603, updated on 24-Nov-2020

Summary

Official Symbol
SMARCD2provided by HGNC
Official Full Name
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2provided by HGNC
Primary source
HGNC:HGNC:11107
See related
Ensembl:ENSG00000108604 MIM:601736
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
SGD2; Rsc6p; BAF60B; CRACD2; PRO2451
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 has sequence similarity to the yeast Swp73 protein. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in skin (RPKM 24.5), esophagus (RPKM 18.0) and 25 other tissues See more
Orthologs

Genomic context

See SMARCD2 in Genome Data Viewer
Location:
17q23.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (63832081..63842685, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (61909441..61920699, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene FtsJ RNA 2'-O-methyltransferase 3 Neighboring gene uncharacterized LOC107984986 Neighboring gene proteasome 26S subunit, ATPase 5 Neighboring gene CRISPRi-validated cis-regulatory element chr17.4273 Neighboring gene testicular cell adhesion molecule 1, pseudogene

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
ATP-dependent chromatin remodeling HDA PubMed 
chromatin remodeling IDA
Inferred from Direct Assay
more info
PubMed 
nucleosome disassembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleosome disassembly IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
SWI/SNF complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SWI/SNF complex IDA
Inferred from Direct Assay
more info
PubMed 
chromatin HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex HDA PubMed 

General protein information

Preferred Names
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2
Names
60 kDa BRG-1/Brm-associated factor subunit B
BRG1-associated factor 60B
SWI/SNF complex 60 kDa subunit B
Swp73-like protein
chromatin remodeling complex BAF60B subunit
mammalian chromatin remodeling complex BRG1-associated factor 60B

NCBI Reference Sequences (RefSeq)

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_053004.1 RefSeqGene

    Range
    5307..15911
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001098426.2NP_001091896.1  SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 isoform 1

    See identical proteins and their annotated locations for NP_001091896.1

    Status: REVIEWED

    Source sequence(s)
    AC015651
    Consensus CDS
    CCDS45756.1
    UniProtKB/Swiss-Prot
    Q92925
    Related
    ENSP00000392617.2, ENST00000448276.7
    Conserved Domains (3) summary
    PHA03201
    Location:61148
    PHA03201; uracil DNA glycosylase; Provisional
    COG5531
    Location:230425
    Rsc6; Chromatin remodeling complex protein RSC6, contains SWIB domain [Chromatin structure and dynamics]
    cd17675
    Location:307386
    SWIB_BAF60B; SWIB domain found in BRG1-associated factor 60B (BAF60B) and similar proteins
  2. NM_001330439.1NP_001317368.1  SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK307944, AW375602, BQ670607
    Consensus CDS
    CCDS82187.1
    UniProtKB/TrEMBL
    J3KMX2
    Related
    ENSP00000225742.9, ENST00000225742.13
    Conserved Domains (2) summary
    COG5531
    Location:155350
    Rsc6; Chromatin remodeling complex protein RSC6, contains SWIB domain [Chromatin structure and dynamics]
    cd17675
    Location:232311
    SWIB_BAF60B; SWIB domain found in BRG1-associated factor 60B (BAF60B) and similar proteins
  3. NM_001330440.2NP_001317369.1  SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AK303951, AW375602, BQ670607
    Consensus CDS
    CCDS82188.1
    UniProtKB/Swiss-Prot
    Q92925
    Related
    ENSP00000318451.10, ENST00000323347.14
    Conserved Domains (2) summary
    pfam02201
    Location:262333
    SWIB; SWIB/MDM2 domain
    cl28646
    Location:10100
    PHA03201; uracil DNA glycosylase; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    63832081..63842685 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_003077.3: Suppressed sequence

    Description
    NM_003077.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript, which aligns with non-consensus splice sites.
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