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 z... See more...

Aliases for SMARCC2 Gene

Aliases for SMARCC2 Gene

  • SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin Subfamily C Member 2 2 3 5
  • BAF170 2 3 4
  • SWI/SNF Complex Subunit SMARCC2 3 4
  • SWI/SNF Complex 170 KDa Subunit 3 4
  • CRACC2 2 3
  • Rsc8 2 3
  • SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily C, Member 2 2
  • SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily C Member 2 4
  • Mammalian Chromatin Remodeling Complex BRG1-Associated Factor 170 3
  • Chromatin Remodeling Complex BAF170 Subunit 3
  • BRG1-Associated Factor 170 4
  • SWI3-Like Protein 3
  • SMARCC2 5
  • CSS8 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 Coffin-Siris Syndrome 8 and Coffin-Siris Syndrome 1. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Chromatin organization. Gene Ontology (GO) annotations related to this gene include chromatin binding and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is SMARCC1.

UniProtKB/Swiss-Prot Summary for SMARCC2 Gene

  • Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:11018012). Can stimulate the ATPase activity of the catalytic subunit of these complexes (PubMed:10078207). May be required for CoREST dependent repression of neuronal specific gene promoters in non-neuronal cells (PubMed:12192000). 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 postmitotic 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 postmitotic 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). Critical regulator of myeloid differentiation, controlling granulocytopoiesis and the expression of genes involved in neutrophil granule formation (By similarity).

Gene Wiki entry for SMARCC2 Gene

Additional gene information for SMARCC2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMARCC2 Gene

Genomics for SMARCC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SMARCC2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SMARCC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMARCC2

Top Transcription factor binding sites by QIAGEN in the SMARCC2 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • p300

Genomic Locations for SMARCC2 Gene

Genomic Locations for SMARCC2 Gene
chr12:56,162,359-56,189,567
(GRCh38/hg38)
Size:
27,209 bases
Orientation:
Minus strand
chr12:56,555,636-56,583,351
(GRCh37/hg19)
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 the multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific (Probable). Component of the BAF complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3 (PubMed:18765789). 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. Component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin (PubMed:22952240, PubMed:26601204). May also interact with the SIN3A histone deacetylase transcription repressor complex in conjunction with SMARCA2 and SMARCA4 (PubMed:11238380). Interacts with SMARD1 (PubMed:12917342). Interacts with KDM6B (By similarity). Interaction with RCOR1 (PubMed:12192000). Interacts with DPF2 (PubMed:28533407). Interacts with ERCC6 (PubMed:24874740).
    SequenceCaution:
    • Sequence=BAD92243.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SMARCC2 Gene

    Alternative splice isoforms for SMARCC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMARCC2 Gene

Post-translational modifications for SMARCC2 Gene

  • Ubiquitination at Lys275, Lys568, Lys694, Lys702, and Lys940
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SMARCC2 Gene

Domains & Families for SMARCC2 Gene

Gene Families for SMARCC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for SMARCC2 Gene

InterPro:
Blocks:
  • Chromo domain
  • Myb DNA-binding domain
  • BRCT domain
  • SWIRM
ProtoNet:

Suggested Antigen Peptide Sequences for SMARCC2 Gene

GenScript: Design optimal peptide antigens:
  • SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 2 (SMRC2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TAQ2

UniProtKB/Swiss-Prot:

SMRC2_HUMAN :
  • Belongs to the SMARCC family.
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

UniProtKB/Swiss-Prot Function:
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:11018012). Can stimulate the ATPase activity of the catalytic subunit of these complexes (PubMed:10078207). May be required for CoREST dependent repression of neuronal specific gene promoters in non-neuronal cells (PubMed:12192000). 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 postmitotic 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 postmitotic 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). Critical regulator of myeloid differentiation, controlling granulocytopoiesis and the expression of genes involved in neutrophil granule formation (By similarity).
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

Phenotypes From GWAS Catalog for SMARCC2 Gene

Gene Ontology (GO) - Molecular Function for SMARCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 contributes_to RNA polymerase II proximal promoter sequence-specific DNA binding HDA 16217013
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0003713 transcription coactivator activity NAS 8804307
GO:0005515 protein binding IPI 12192000
genes like me logo Genes that share ontologies with SMARCC2: view
genes like me logo Genes that share phenotypes with SMARCC2: view

Human Phenotype Ontology for SMARCC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SMARCC2 Gene

MGI Knock Outs for SMARCC2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMARCC2

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMARCC2 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SMARCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin HDA 16217013
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0016514 SWI/SNF complex IBA,IDA 8804307
GO:0032991 protein-containing complex HDA 16217013
genes like me logo Genes that share ontologies with SMARCC2: view

Pathways & Interactions for SMARCC2 Gene

PathCards logo

SuperPathways for SMARCC2 Gene

SuperPathway Contained pathways
1 AMPK Enzyme Complex Pathway
.01
-
2 Chromatin organization
3 Transcription Ligand-dependent activation of the ESR1/SP pathway
.37
.37
4 Chromatin Regulation / Acetylation
5 Gastric cancer
genes like me logo Genes that share pathways with SMARCC2: view

Pathways by source for SMARCC2 Gene

1 BioSystems pathway for SMARCC2 Gene
2 KEGG pathways for SMARCC2 Gene
2 GeneGo (Thomson Reuters) pathways for SMARCC2 Gene
  • Development Ligand-dependent activation of the ESR1/AP-1 pathway
  • Transcription Ligand-dependent activation of the ESR1/SP pathway
4 Qiagen pathways for SMARCC2 Gene
  • AMPK Enzyme Complex Pathway
  • BRCA1 Pathway
  • Chromatin Remodeling
  • Glucocorticoid Receptor Signaling
1 Cell Signaling Technology pathway for SMARCC2 Gene

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 by RNA polymerase II IEA --
GO:0006325 chromatin organization IEA --
GO:0006337 nucleosome disassembly IDA 8895581
GO:0006338 chromatin remodeling IDA 10078207
GO:0006357 regulation of transcription by RNA polymerase II NAS 8804307
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

mRNA/cDNA for SMARCC2 Gene

4 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMARCC2

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

Expression for SMARCC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for SMARCC2 Gene



Protein tissue co-expression partners for SMARCC2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMARCC2

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.

Evidence on tissue expression from TISSUES for SMARCC2 Gene

  • Nervous system(4.9)
  • Blood(4.5)
  • Intestine(4.5)
  • Liver(4.5)
  • Lung(3.9)
  • Pancreas(3.1)
  • Kidney(3)
  • Skin(3)
  • Muscle(2.8)
  • Heart(2.6)
  • Adrenal gland(2.5)
  • Thyroid gland(2.4)
  • Bone marrow(2.4)
  • Lymph node(2.3)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with SMARCC2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia SMARCC2 30 31
  • 99.6 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SMARCC2 30 31
  • 92.94 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SMARCC2 30 31
  • 90.86 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Smarcc2 30 17 31
  • 90.47 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC685179 30
  • 89.18 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 70 (a)
OneToMany
-- 31
  • 61 (a)
OneToMany
-- 31
  • 56 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia SMARCC2 31
  • 75 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia smarcc2 30
  • 75.15 (n)
Zebrafish
(Danio rerio)
Actinopterygii smarcc2 30 31
  • 73.76 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003118 30
  • 57.41 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta mor 30 31 32
  • 56.6 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea swsn-1 31
  • 43 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SWI3 31 33
  • 25 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.41 31
  • 59 (a)
OneToMany
Species where no ortholog for SMARCC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SMARCC2: view image

Paralogs for SMARCC2 Gene

Paralogs for SMARCC2 Gene

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

  • SMRC2_HUMAN
  • F8VXC8_HUMAN
  • F8VZW6_HUMAN
genes like me logo Genes that share paralogs with SMARCC2: view

Variants for SMARCC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMARCC2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
758697 Likely Benign: not provided 56,165,328(-) A/G SYNONYMOUS_VARIANT
806900 Uncertain Significance: not provided 56,169,860(-) T/C MISSENSE_VARIANT
807690 Likely Pathogenic: COFFIN-SIRIS SYNDROME 8 56,185,044(-) T/C MISSENSE_VARIANT
rs1206884190 Pathogenic: COFFIN-SIRIS SYNDROME 8 56,178,096(-) G/C INTRON_VARIANT
rs1555221275 Uncertain Significance: SMARCC2-related condition 56,172,427(-) C/A SPLICE_DONOR_VARIANT

Additional dbSNP identifiers (rs#s) for SMARCC2 Gene

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

Variant ID Type Subtype PubMed ID
nsv1051961 CNV gain 25217958
nsv559013 CNV loss 21841781
nsv720 CNV insertion 18451855
nsv973989 CNV duplication 23825009

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)

Additional Variant Information for SMARCC2 Gene

Human Gene Mutation Database (HGMD)
SMARCC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMARCC2

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

Disorders for SMARCC2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for SMARCC2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
coffin-siris syndrome 8
  • css8
coffin-siris syndrome 1
  • css1
kidney rhabdoid cancer
  • kidney rhabdoid tumor
hypertrichosis
neurilemmomatosis
  • schwannomatosis 1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SMRC2_HUMAN
  • Coffin-Siris syndrome 8 (CSS8) [MIM:618362]: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS8 patients manifest prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebrows, thin upper lip vermilion, and upturned nose. CSS8 inheritance is autosomal dominant. {ECO:0000269 PubMed:30580808}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with SMARCC2: view

No data available for Genatlas for SMARCC2 Gene

Publications for SMARCC2 Gene

  1. BAF60a mediates critical interactions between nuclear receptors and the BRG1 chromatin-remodeling complex for transactivation. (PMID: 12917342) Hsiao PW … Archer TK (Molecular and cellular biology 2003) 3 4 23
  2. REST repression of neuronal genes requires components of the hSWI.SNF complex. (PMID: 12192000) Battaglioli E … Mandel G (The Journal of biological chemistry 2002) 3 4 23
  3. Diversity and specialization of mammalian SWI/SNF complexes. (PMID: 8804307) Wang W … Crabtree GR (Genes & development 1996) 2 3 4
  4. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. (PMID: 30580808) Machol K … Campeau PM (American journal of human genetics 2019) 3 4
  5. Histone-binding of DPF2 mediates its repressive role in myeloid differentiation. (PMID: 28533407) Huber FM … Hoelz A (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 4

Products for SMARCC2 Gene