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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 7-Aug-2022

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; AllianceGenome:HGNC:11107
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
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Genomic context

See SMARCD2 in Genome Data Viewer
Location:
17q23.3
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (63832081..63842685, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (64702930..64713532, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (61909441..61920045, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene DEAD-box helicase 42 Neighboring gene FtsJ RNA 2'-O-methyltransferase 3 Neighboring gene proteasome 26S subunit, ATPase 5 Neighboring gene Sharpr-MPRA regulatory region 8123 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 
enables transcription coregulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in DNA-templated transcription elongation IEA
Inferred from Electronic Annotation
more info
 
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 nucleosome disassembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
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 
located_in nuclear matrix IC
Inferred by Curator
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of 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)

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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, Q9UHZ1
    Related
    ENSP00000392617.2, ENST00000448276.7
    Conserved Domains (2) summary
    PHA03201
    Location:61148
    PHA03201; uracil DNA glycosylase; Provisional
    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 (1) summary
    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
    PHA03201
    Location:10100
    PHA03201; uracil DNA glycosylase; Provisional
    cd17675
    Location:259338
    SWIB_BAF60B; SWIB domain found in BRG1-associated factor 60B (BAF60B) and similar proteins

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_000017.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    64702930..64713532 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.