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Aliases for SMARCC2 Gene

Aliases for SMARCC2 Gene

  • SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin Subfamily C Member 2 2 3
  • SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily C, Member 2 2 3 5
  • SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily C Member 2 3 4
  • SWI/SNF Complex 170 KDa Subunit 3 4
  • BRG1-Associated Factor 170 3 4
  • BAF170 3 4
  • Mammalian Chromatin Remodeling Complex BRG1-Associated Factor 170 3
  • Chromatin Remodeling Complex BAF170 Subunit 3
  • SWI3-Like Protein 3
  • CRACC2 3
  • Rsc8 3

External Ids for SMARCC2 Gene

Previous GeneCards Identifiers for SMARCC2 Gene

  • GC12M056496
  • GC12P056713
  • GC12M056272
  • GC12M054843
  • GC12M053594
  • GC12M056555

Summaries for SMARCC2 Gene

Entrez Gene Summary for SMARCC2 Gene

  • 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]

GeneCards Summary for SMARCC2 Gene

SMARCC2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin Subfamily C Member 2) is a Protein Coding gene. Diseases associated with SMARCC2 include Achalasia-Addisonianism-Alacrimia Syndrome and Coffin-Siris Syndrome. Among its related pathways are Prostate Cancer and BRCA1 Pathway. GO annotations related to this gene include chromatin binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is SMARCC1.

UniProtKB/Swiss-Prot for SMARCC2 Gene

  • Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Can stimulate the ATPase activity of the catalytic subunit of these complexes. May be required for CoREST dependent repression of neuronal specific gene promoters in non-neuronal cells. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).

Gene Wiki entry for SMARCC2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMARCC2 Gene

Genomics for SMARCC2 Gene

Regulatory Elements for SMARCC2 Gene

Enhancers for SMARCC2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SMARCC2 on UCSC Golden Path with GeneCards custom track

Promoters for SMARCC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SMARCC2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the SMARCC2 gene promoter:

Genomic Location for SMARCC2 Gene

Chromosome:
12
Start:
56,161,852 bp from pter
End:
56,189,567 bp from pter
Size:
27,716 bases
Orientation:
Minus strand

Genomic View for SMARCC2 Gene

Genes around SMARCC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMARCC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMARCC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMARCC2 Gene

Proteins for SMARCC2 Gene

  • Protein details for SMARCC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TAQ2-SMRC2_HUMAN
    Recommended name:
    SWI/SNF complex subunit SMARCC2
    Protein Accession:
    Q8TAQ2
    Secondary Accessions:
    • F8VTJ5
    • Q59GV3
    • Q92923
    • Q96E12
    • Q96GY4

    Protein attributes for SMARCC2 Gene

    Size:
    1214 amino acids
    Molecular mass:
    132879 Da
    Quaternary structure:
    • Component of a number of multiprotein chromatin-remodeling complexes: Swi/Snf-A (BAF), Swi/Snf-B (PBAF), Brm, Brg1(I) and Brg1(II). Each of the complexes contains a catalytic subunit (either SMARCA4 or SMARCA2), and at least SMARCE1, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCC1 and SMARCB1. Other subunits specific to each of the complexes may also be present. Component of the BAF complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2, SMARCA4/BRG1, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. May also interact with the SIN3A histone deacetylase transcription repressor complex in conjunction with SMARCA2 and SMARCA4. Interacts with SMARD1. Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (By similarity).
    SequenceCaution:
    • Sequence=BAD92243.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for SMARCC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMARCC2 Gene

Proteomics data for SMARCC2 Gene at MOPED

Post-translational modifications for SMARCC2 Gene

  • Ubiquitination at Lys 568, Lys 694, Lys 702, and Lys 940
  • Modification sites at PhosphoSitePlus

Other Protein References for SMARCC2 Gene

No data available for DME Specific Peptides for SMARCC2 Gene

Domains & Families for SMARCC2 Gene

Gene Families for SMARCC2 Gene

Suggested Antigen Peptide Sequences for SMARCC2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TAQ2

UniProtKB/Swiss-Prot:

SMRC2_HUMAN :
  • Contains 1 SANT domain.
  • Belongs to the SMARCC family.
Domain:
  • Contains 1 SANT domain.
  • Contains 1 SWIRM domain.
Family:
  • Belongs to the SMARCC family.
genes like me logo Genes that share domains with SMARCC2: view

Function for SMARCC2 Gene

Molecular function for SMARCC2 Gene

GENATLAS Biochemistry:
general transcriptional activator S cerevisiae SWI/SNF related protein,matrix associated,actin-dependent regulator of chromatin,subfamily C,member 2,component of the chromatin remodeling complex,ubiquitously expressed
UniProtKB/Swiss-Prot Function:
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Can stimulate the ATPase activity of the catalytic subunit of these complexes. May be required for CoREST dependent repression of neuronal specific gene promoters in non-neuronal cells. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).
genes like me logo Genes that share phenotypes with SMARCC2: view

Animal Models for SMARCC2 Gene

MGI Knock Outs for SMARCC2:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SMARCC2 Gene

Localization for SMARCC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMARCC2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMARCC2 Gene COMPARTMENTS Subcellular localization image for SMARCC2 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for SMARCC2 Gene

Pathways & Interactions for SMARCC2 Gene

genes like me logo Genes that share pathways with SMARCC2: view

SIGNOR curated interactions for SMARCC2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SMARCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0043044 ATP-dependent chromatin remodeling IDA 16217013
GO:0045893 positive regulation of transcription, DNA-templated IDA 11018012
genes like me logo Genes that share ontologies with SMARCC2: view

Drugs & Compounds for SMARCC2 Gene

No Compound Related Data Available

Transcripts for SMARCC2 Gene

Unigene Clusters for SMARCC2 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SMARCC2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ·
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - -
SP5: - -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 16c · 16d ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30
SP1: -
SP2: -
SP3: - -
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10: -
SP11:

Relevant External Links for SMARCC2 Gene

GeneLoc Exon Structure for
SMARCC2
ECgene alternative splicing isoforms for
SMARCC2

Expression for SMARCC2 Gene

mRNA expression in normal human tissues for SMARCC2 Gene

Protein differential expression in normal tissues from HIPED for SMARCC2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.4) and Lymph node (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SMARCC2 Gene



SOURCE GeneReport for Unigene cluster for SMARCC2 Gene Hs.236030

mRNA Expression by UniProt/SwissProt for SMARCC2 Gene

Q8TAQ2-SMRC2_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with SMARCC2: view

Protein tissue co-expression partners for SMARCC2 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SMARCC2 Gene

Orthologs for SMARCC2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SMARCC2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SMARCC2 35
  • 92.94 (n)
  • 98.03 (a)
SMARCC2 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMARCC2 35
  • 90.86 (n)
  • 95.66 (a)
SMARCC2 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smarcc2 35
  • 90.47 (n)
  • 96.78 (a)
Smarcc2 16
Smarcc2 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SMARCC2 35
  • 99.6 (n)
  • 100 (a)
SMARCC2 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC685179 35
  • 89.18 (n)
  • 94.75 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 61 (a)
OneToMany
-- 36
  • 70 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia SMARCC2 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smarcc2 35
  • 75.15 (n)
  • 84.6 (a)
zebrafish
(Danio rerio)
Actinopterygii smarcc2 35
  • 73.76 (n)
  • 82.99 (a)
smarcc2 36
  • 75 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mor 37
  • 48 (a)
mor 35
  • 56.6 (n)
  • 52.1 (a)
mor 36
  • 41 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003118 35
  • 57.41 (n)
  • 54.53 (a)
worm
(Caenorhabditis elegans)
Secernentea swsn-1 36
  • 43 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SWI3 36
  • 25 (a)
OneToMany
SWI3 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.41 36
  • 59 (a)
OneToMany
Species with no ortholog for SMARCC2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SMARCC2 Gene

ENSEMBL:
Gene Tree for SMARCC2 (if available)
TreeFam:
Gene Tree for SMARCC2 (if available)

Paralogs for SMARCC2 Gene

Paralogs for SMARCC2 Gene

(2) SIMAP similar genes for SMARCC2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SMARCC2: view

Variants for SMARCC2 Gene

Sequence variations from dbSNP and Humsavar for SMARCC2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1967053 -- 56,180,291(+) ttttt(A/G)gtata intron-variant
rs1967054 -- 56,180,351(+) TGATC(C/T)GCCCA intron-variant
rs7134566 -- 56,182,798(+) ATGAT(A/G)TTTTT intron-variant
rs7136420 -- 56,184,898(+) ATTTC(C/T)GGGCA reference, synonymous-codon, utr-variant-5-prime
rs12814242 -- 56,166,884(+) catgg(G/T)gaaac intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMARCC2 Gene

Variant ID Type Subtype PubMed ID
nsv482992 CNV Complex 15286789
nsv720 CNV Insertion 18451855

Variation tolerance for SMARCC2 Gene

Residual Variation Intolerance Score: 4.19% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.05; 37.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMARCC2 Gene

Human Gene Mutation Database (HGMD)
SMARCC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMARCC2 Gene

Disorders for SMARCC2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SMARCC2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
achalasia-addisonianism-alacrimia syndrome
  • triple-a syndrome
coffin-siris syndrome
  • dwarfism-onychodysplasia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SMARCC2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMARCC2
genes like me logo Genes that share disorders with SMARCC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SMARCC2 Gene

Publications for SMARCC2 Gene

  1. Diversity and specialization of mammalian SWI/SNF complexes. (PMID: 8804307) Wang W. … Crabtree G.R. (Genes Dev. 1996) 2 3 4 67
  2. BAF60a mediates critical interactions between nuclear receptors and the BRG1 chromatin-remodeling complex for transactivation. (PMID: 12917342) Hsiao P.W. … Archer T.K. (Mol. Cell. Biol. 2003) 3 23
  3. REST repression of neuronal genes requires components of the hSWI.SNF complex. (PMID: 12192000) Battaglioli E. … Mandel G. (J. Biol. Chem. 2002) 3 23
  4. Five SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin (SMARC) genes are dispersed in the human genome. (PMID: 9693044) Ring H.Z. … Francke U. (Genomics 1998) 2 3
  5. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3

Products for SMARCC2 Gene

Sources for SMARCC2 Gene

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