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... See more...

Aliases for SMARCD3 Gene

Aliases for SMARCD3 Gene

  • SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily D, Member 3 2 3 5
  • BAF60C 2 3 4
  • SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily D Member 3 3 4
  • Mammalian Chromatin Remodeling Complex BRG1-Associated Factor 60C 2 3
  • 60 KDa BRG-1/Brm-Associated Factor Subunit C 3 4
  • SWI/SNF Complex 60 KDa Subunit C 2 3
  • BRG1-Associated Factor 60C 3 4
  • Swp73-Like Protein 2 3
  • CRACD3 2 3
  • Rsc6p 2 3
  • 60kDa BRG-1/Brm Associated Factor Subunit C 2
  • Chromatin Remodeling Complex BAF60C Subunit 3
  • SMARCD3 5

External Ids for SMARCD3 Gene

Previous GeneCards Identifiers for SMARCD3 Gene

  • GC07M149182
  • GC07M150250
  • GC07M150327
  • GC07M150373
  • GC07M150566
  • GC07M150935
  • GC07M144747

Summaries for SMARCD3 Gene

Entrez Gene Summary for SMARCD3 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 has sequence similarity to the yeast Swp73 protein. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for SMARCD3 Gene

SMARCD3 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily D, Member 3) is a Protein Coding gene. Diseases associated with SMARCD3 include Autosomal Dominant Non-Syndromic Intellectual Disability. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Chromatin organization. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and transcription coactivator activity. An important paralog of this gene is SMARCD1.

UniProtKB/Swiss-Prot Summary for SMARCD3 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. Stimulates nuclear receptor mediated transcription. 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).

Gene Wiki entry for SMARCD3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMARCD3 Gene

Genomics for SMARCD3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SMARCD3 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 SMARCD3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMARCD3

Top Transcription factor binding sites by QIAGEN in the SMARCD3 gene promoter:
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for SMARCD3 Gene

Latest Assembly
chr7:151,238,764-151,277,896
(GRCh38/hg38)
Size:
39,133 bases
Orientation:
Minus strand

Previous Assembly
chr7:150,935,866-150,974,235
(GRCh37/hg19 by Entrez Gene)
Size:
38,370 bases
Orientation:
Minus strand

chr7:150,935,850-150,974,982
(GRCh37/hg19 by Ensembl)
Size:
39,133 bases
Orientation:
Minus strand

Genomic View for SMARCD3 Gene

Genes around SMARCD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMARCD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMARCD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMARCD3 Gene

Proteins for SMARCD3 Gene

  • Protein details for SMARCD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6STE5-SMRD3_HUMAN
    Recommended name:
    SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3
    Protein Accession:
    Q6STE5
    Secondary Accessions:
    • D3DX10
    • Q2YD86
    • Q75MJ2
    • Q75MR8
    • Q92926
    • Q9BUH1

    Protein attributes for SMARCD3 Gene

    Size:
    483 amino acids
    Molecular mass:
    55016 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/BAF190A, 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 (By similarity). May be a 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). Interacts with SMARCA4/BRG1/BAF190A (PubMed:14701856). Component of SWI/SNF (GBAF) subcomplex, which includes at least BICRA or BICRAL (mutually exclusive), BRD9, SS18, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, SMARCC1/BAF155, and SMARCD1/BAF60A (PubMed:29374058). The precise distribution of the related SMARCD1, SMARCD2 and SMARCD3 proteins among these and other SWI/SNF nucleosome-remodeling complexes is not fully known. May allow recruitment of SWI/SNF containing complexes specifically to promoters where these factors are located. Also interacts with several nuclear receptors including PPARG/NR1C3, RXRA/NR1F1, ESR1, NR5A1, NR5A2/LRH1 and other transcriptional activators including the HLH protein SREBF1/SREBP1 and the homeobox protein PBX1 (PubMed:14701856). Interacts with PRDM1/BLIMP1 (PubMed:32417234).
    SequenceCaution:
    • Sequence=AAC50697.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for SMARCD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMARCD3 Gene

Post-translational modifications for SMARCD3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SMARCD3 Gene

Domains & Families for SMARCD3 Gene

Gene Families for SMARCD3 Gene

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

Protein Domains for SMARCD3 Gene

InterPro:
Blocks:
  • SWIB complex, BAF60b

Suggested Antigen Peptide Sequences for SMARCD3 Gene

GenScript: Design optimal peptide antigens:
  • BRG1-associated factor 60C (SMRD3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6STE5

UniProtKB/Swiss-Prot:

SMRD3_HUMAN :
  • Belongs to the SMARCD family.
Family:
  • Belongs to the SMARCD family.
genes like me logo Genes that share domains with SMARCD3: view

Function for SMARCD3 Gene

Molecular function for SMARCD3 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. Stimulates nuclear receptor mediated transcription. 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).
GENATLAS Biochemistry:
general transcriptional activator S cerevisiae SWI/SNF related protein,matrix associated,actin-dependent regulator of chromatin,subfamily D,member 3,component of the chromatin remodeling complex,preferentially expressed in muscle and pancreas

Phenotypes From GWAS Catalog for SMARCD3 Gene

Gene Ontology (GO) - Molecular Function for SMARCD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001228 contributes_to DNA-binding transcription activator activity, RNA polymerase II-specific IBA 21873635
GO:0003682 chromatin binding IEA --
GO:0003713 transcription coactivator activity NAS 8804307
GO:0005102 signaling receptor binding IPI 14701856
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with SMARCD3: view
genes like me logo Genes that share phenotypes with SMARCD3: view

Animal Models for SMARCD3 Gene

MGI Knock Outs for SMARCD3:

miRNA for SMARCD3 Gene

miRTarBase miRNAs that target SMARCD3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMARCD3

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SMARCD3 Gene

Localization for SMARCD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMARCD3 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 SMARCD3 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SMARCD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA 17363140
GO:0005634 nucleus IBA,IDA 14701856
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0016514 SWI/SNF complex IBA,NAS 14701856
genes like me logo Genes that share ontologies with SMARCD3: view

Pathways & Interactions for SMARCD3 Gene

genes like me logo Genes that share pathways with SMARCD3: view

Pathways by source for SMARCD3 Gene

2 GeneGo (Thomson Reuters) pathways for SMARCD3 Gene
  • Development Ligand-dependent activation of the ESR1/AP-1 pathway
  • Transcription Ligand-dependent activation of the ESR1/SP pathway
3 Qiagen pathways for SMARCD3 Gene
  • AMPK Enzyme Complex Pathway
  • Chromatin Remodeling
  • Glucocorticoid Receptor Signaling
1 Cell Signaling Technology pathway for SMARCD3 Gene

SIGNOR curated interactions for SMARCD3 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for SMARCD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002052 positive regulation of neuroblast proliferation IDA 18816825
GO:0003007 heart morphogenesis IEA --
GO:0003139 secondary heart field specification IEA --
GO:0003219 cardiac right ventricle formation IEA --
GO:0003407 neural retina development IEP 18816825
genes like me logo Genes that share ontologies with SMARCD3: view

Drugs & Compounds for SMARCD3 Gene

No Compound Related Data Available

Transcripts for SMARCD3 Gene

mRNA/cDNA for SMARCD3 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMARCD3

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for SMARCD3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18
SP1: - - - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - - -
SP5: -
SP6: - - - -
SP7: -
SP8: -
SP9:

Relevant External Links for SMARCD3 Gene

GeneLoc Exon Structure for
SMARCD3

Expression for SMARCD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SMARCD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SMARCD3 Gene

This gene is overexpressed in Esophagus (17.3), Fetal heart (12.2), Fetal ovary (11.4), Fetal Brain (8.1), and Ovary (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SMARCD3 Gene



Protein tissue co-expression partners for SMARCD3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMARCD3

SOURCE GeneReport for Unigene cluster for SMARCD3 Gene:

Hs.647067

mRNA Expression by UniProt/SwissProt for SMARCD3 Gene:

Q6STE5-SMRD3_HUMAN
Tissue specificity: Isoform 2 and isoform 1 are expressed in brain, heart, kidney, placenta, prostate, salivary gland, spleen, testis, thyroid, trachea and uterus. Isoform 1 is also expressed in skeletal muscle and adipose tissue.

Evidence on tissue expression from TISSUES for SMARCD3 Gene

  • Nervous system(4.5)
  • Blood(4.3)
  • Muscle(3.3)
  • Heart(3)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with SMARCD3: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMARCD3 Gene

Orthologs for SMARCD3 Gene

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

Orthologs for SMARCD3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SMARCD3 29 30
  • 99.45 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SMARCD3 30
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SMARCD3 29 30
  • 94.89 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SMARCD3 29 30
  • 94.41 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Smarcd3 29 16 30
  • 93.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Smarcd3 29
  • 93.14 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SMARCD3 30
  • 90 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SMARCD3 29 30
  • 76.06 (n)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii smarcd3a 30
  • 80 (a)
OneToMany
smarcd3b 29 30
  • 78.01 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Bap60 30 31
  • 56 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ham-3 30
  • 52 (a)
ManyToMany
ZK1128.5 31
  • 51 (a)
C18E3.2 31
  • 48 (a)
swsn-2.2 30
  • 47 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 74 (a)
ManyToMany
-- 30
  • 48 (a)
ManyToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ssr3 29
  • 46.04 (n)
Species where no ortholog for SMARCD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for SMARCD3 Gene

ENSEMBL:
Gene Tree for SMARCD3 (if available)
TreeFam:
Gene Tree for SMARCD3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SMARCD3: view image
Alliance of Genome Resources:
Additional Orthologs for SMARCD3

Paralogs for SMARCD3 Gene

Paralogs for SMARCD3 Gene

(2) SIMAP similar genes for SMARCD3 Gene using alignment to 4 proteins:

  • SMRD3_HUMAN
  • C9JYI7_HUMAN
  • F8WBJ3_HUMAN
  • H7C4E9_HUMAN
genes like me logo Genes that share paralogs with SMARCD3: view

Variants for SMARCD3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMARCD3 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs1050101 -- p.Pro170Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SMARCD3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SMARCD3 Gene

Variant ID Type Subtype PubMed ID
dgv3695n106 OTHER inversion 24896259
dgv6757n100 CNV gain 25217958
nsv1067934 OTHER inversion 25765185
nsv1124284 CNV deletion 24896259
nsv1133675 CNV deletion 24896259
nsv1151906 OTHER inversion 26484159
nsv465216 CNV loss 19166990
nsv609035 CNV loss 21841781
nsv609036 CNV loss 21841781

Variation tolerance for SMARCD3 Gene

Residual Variation Intolerance Score: 18.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.44; 9.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMARCD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMARCD3
Leiden Open Variation Database (LOVD)
SMARCD3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMARCD3 Gene

Disorders for SMARCD3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SMARCD3 Gene - From: COP

Disorder Aliases PubMed IDs
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SMARCD3

genes like me logo Genes that share disorders with SMARCD3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SMARCD3 Gene

Publications for SMARCD3 Gene

  1. Diversity and specialization of mammalian SWI/SNF complexes. (PMID: 8804307) Wang W … Crabtree GR (Genes & development 1996) 2 3 4
  2. Glioma tumor suppressor candidate region gene 1 (GLTSCR1) and its paralog GLTSCR1-like form SWI/SNF chromatin remodeling subcomplexes. (PMID: 29374058) Alpsoy A … Dykhuizen EC (The Journal of biological chemistry 2018) 3 4
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  4. 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
  5. Transcription factors and nuclear receptors interact with the SWI/SNF complex through the BAF60c subunit. (PMID: 14701856) Debril MB … Auwerx J (The Journal of biological chemistry 2004) 3 4

Products for SMARCD3 Gene

Sources for SMARCD3 Gene