SMARCD3 (SWI/SNF related BAF chromatin remodeling complex subunit D3)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6604
Gene name SWI/SNF related BAF chromatin remodeling complex subunit D3
Gene symbol SMARCD3
Synonyms (NCBI Gene)
BAF60CCRACD3Rsc6p
Chromosome 7
Chromosome location 7q36.1
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. T
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT437460 hsa-miR-182-5p Luciferase reporter assay 23249749
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Transcription factor Regulation Reference
TP63 Unknown 15988020
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 17363140
GO:0000785 Component Chromatin NAS 12192000
GO:0001221 Function Transcription coregulator binding IPI 14701856
GO:0002052 Process Positive regulation of neuroblast proliferation IDA 18816825
GO:0003007 Process Heart morphogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601737 11108 ENSG00000082014
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6STE5
Protein name SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3 (60 kDa BRG-1/Brm-associated factor subunit C) (BRG1-associated factor 60C) (BAF60C)
Protein 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 chromati
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02201 SWIB 261 → 333 SWIB/MDM2 domain Domain
Tissue specificity 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.
Sequence 
MAADEVAGGARKATKSKLFEFLVHGVRPGMPSGARMPHQGAPMGPPGSPYMGSPAVRPGL
APAGMEPARKRAAPPPGQSQAQSQGQPVPTAPARSRSAKRRKMADKILPQRIRELVPESQ
AYMDLLAFERKLDQTIMRKRVDIQEALKRPMKQKRKLRLYISNTFNPAKPDAEDSDGSIA
SWELRVEGKLLDDPSKQKRKFSSFFKSLVIELDKDLYGPDNHLVEWHRTPTTQETDGFQV
KRPGDLSVRCTLLLMLDYQPPQFKLDPRLARLLGLHTQSRSAIVQALWQYVKTNRLQDSH
DKEYINGDKYFQQIFDCPRLKFSEIPQRLTALLLPPDPIVINHVISVDPSDQKKTACYDI
DVEVEEPLKGQMSSFLLSTANQQEISALDSKIHETIESINQLKIQRDFMLSFSRDPKGYV
QDLLRSQSRDLKVMTDVAGNPEEERRAEFYHQPWSQEAVSRYFYCKIQQRRQELEQSLVV
RNT
Sequence length 483
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  ATP-dependent chromatin remodeling
Thermogenesis
Hepatocellular carcinoma 		  RORA activates gene expression
PPARA activates gene expression
Transcriptional activation of mitochondrial biogenesis
Activation of gene expression by SREBF (SREBP)
RMTs methylate histone arginines
Transcriptional regulation of white adipocyte differentiation
Regulation of lipid metabolism by PPARalpha
Circadian Clock
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Uncertain significance rs765462133 RCV005939215
Show/Hide Text Mining Associations (15)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 23716599, 33180234
Colorectal Neoplasms Associate 33125346
HIV Infections Associate 28065665
Medulloblastoma Associate 36849558
Mitral Valve Insufficiency Associate 27250500
Multiple Myeloma Associate 35013207
Muscular Dystrophy Duchenne Associate 32359374
Myoepithelioma Associate 25223915
Neoplasm Metastasis Associate 36849558
Neoplasms Associate 33125346