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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 5
  • SWI/SNF Complex 170 KDa Subunit 3 4
  • BAF170 3 4
  • 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
  • SWI/SNF Complex Subunit SMARCC2 3
  • BRG1-Associated Factor 170 4
  • 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 Neurilemmomatosis and Coffin-Siris Syndrome 1. Among its related pathways are PEDF Induced Signaling and AMPK Enzyme Complex Pathway. 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 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 , fRNAdb sequence ontologies and piRNA Summary for SMARCC2 Gene

Genomics for SMARCC2 Gene

GeneHancer (GH) Regulatory Elements for SMARCC2 Gene

Promoters and enhancers for SMARCC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I056187 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 579.6 +0.1 111 3.5 MLX DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 ZNF610 ENSG00000258199 SMARCC2 GC12P056192 TRS-CGA4-1 NEMP1 ENSG00000257740 IKZF4 ANKRD52 PHC1P1 BAZ2A
GH12I057109 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 114.9 -921.7 -921687 3.8 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF416 ZNF143 ZNF548 MCM3 STAT6 NEMP1 EEF1AKMT3 ENSG00000257740 BAZ2A PAN2 SMARCC2 ANKRD52 CDK4 CTDSP2
GH12I056220 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 50.9 -33.3 -33315 5.7 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF213 E2F8 NABP2 RNF41 NEMP1 BAZ2A PAN2 DNAJC14 ANKRD52 PHC1P1 ZBTB39 RN7SL809P
GH12I056266 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 49.5 -77.6 -77627 2 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 COQ10A GC12M056238 NEMP1 PAN2 BAZ2A PHC1P1 ANKRD52 DNAJC14 SMARCC2 RN7SL809P
GH12I056102 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 32.9 +84.8 84783 5.4 MLX DMAP1 YY1 SLC30A9 E2F8 ZNF416 ZNF143 SP3 NFYC MEF2D GC12M056105 LOC105369782 PA2G4 BAZ2A NEMP1 ENSG00000257740 SMARCC2 DNAJC14 RN7SL809P IKZF4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SMARCC2 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for SMARCC2 Gene

Genomic Locations for SMARCC2 Gene
chr12:56,161,852-56,189,567
(GRCh38/hg38)
Size:
27,716 bases
Orientation:
Minus strand
chr12:56,555,636-56,583,351
(GRCh37/hg19)

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).
    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

Post-translational modifications for SMARCC2 Gene

  • Ubiquitination at posLast=568568, posLast=694694, posLast=702702, and posLast=940940

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

Suggested Antigen Peptide Sequences for SMARCC2 Gene

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

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). 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).

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,IDA 16217013
GO:0000980 contributes_to RNA polymerase II distal enhancer sequence-specific DNA binding HDA,IDA 16217013
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0003713 transcription coactivator activity NAS 8804307
genes like me logo Genes that share ontologies with SMARCC2: view
genes like me logo Genes that share phenotypes with SMARCC2: view

Animal Models for SMARCC2 Gene

MGI Knock Outs for SMARCC2:

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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

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,IDA 16217013
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0016514 SWI/SNF complex IDA 8804307
GO:0017053 colocalizes_with transcriptional repressor complex IPI 12192000
genes like me logo Genes that share ontologies with SMARCC2: view

Pathways & Interactions for SMARCC2 Gene

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

Pathways by source 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:0006337 nucleosome disassembly IDA 8895581
GO:0006338 chromatin remodeling IDA 10078207
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
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

Unigene Clusters for SMARCC2 Gene

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

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for SMARCC2 Gene



Protein tissue co-expression partners for SMARCC2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SMARCC2 Gene:

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)
  • Intestine(4.4)
  • Blood(4.3)
  • Liver(4.3)
  • Lung(3.6)
  • Pancreas(2.6)
  • Kidney(2.2)
  • Muscle(2)
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 34 33
  • 99.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SMARCC2 33 34
  • 92.94 (n)
dog
(Canis familiaris)
Mammalia SMARCC2 34 33
  • 90.86 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Smarcc2 16 34 33
  • 90.47 (n)
rat
(Rattus norvegicus)
Mammalia LOC685179 33
  • 89.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 70 (a)
OneToMany
-- 34
  • 61 (a)
OneToMany
-- 34
  • 56 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia SMARCC2 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smarcc2 33
  • 75.15 (n)
zebrafish
(Danio rerio)
Actinopterygii smarcc2 34 33
  • 73.76 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003118 33
  • 57.41 (n)
fruit fly
(Drosophila melanogaster)
Insecta mor 35 33 34
  • 56.6 (n)
worm
(Caenorhabditis elegans)
Secernentea swsn-1 34
  • 43 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SWI3 34 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.41 34
  • 59 (a)
OneToMany
Species where no ortholog for SMARCC2 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs864622039 uncertain-significance, Malignant tumor of prostate 56,163,757(-) T/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1000121145 -- 56,162,193(-) T/C 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1000141943 -- 56,183,067(-) T/C intron_variant
rs1000278484 -- 56,162,458(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000514258 -- 56,175,008(-) T/G intron_variant

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

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

Disorder Aliases PubMed IDs
neurilemmomatosis
  • schwannomatosis 1
coffin-siris syndrome 1
  • css1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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. 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 22 58
  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 22 58
  3. Diversity and specialization of mammalian SWI/SNF complexes. (PMID: 8804307) Wang W … Crabtree GR (Genes & development 1996) 2 3 4 58
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for SMARCC2 Gene

Sources for SMARCC2 Gene