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SMARCD3 Gene

protein-coding   GIFtS: 59
GCID: GC07M150935

SWI/SNF Related, Matrix Associated, Actin Dependent Regulator...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of
Chromatin, Subfamily D, Member 31 2
     BRG1-Associated Factor 60C2 3
BAF60C2 3 5     60kDa BRG-1/Brm Associated Factor Subunit C1
Mammalian Chromatin Remodeling Complex BRG1-Associated Factor 60C1 2     CRACD32
SWI/SNF Complex 60 KDa Subunit C1 2     Rsc6p2
Swp73-Like Protein1 2     Chromatin Remodeling Complex BAF60C Subunit2
60 KDa BRG-1/Brm-Associated Factor Subunit C2 3     SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin
Subfamily D Member 32

External Ids:    HGNC: 111081   Entrez Gene: 66042   Ensembl: ENSG000000820147   OMIM: 6017375   UniProtKB: Q6STE53   

Export aliases for SMARCD3 gene to outside databases

Previous GC identifers: GC07M149182 GC07M150250 GC07M150327 GC07M150373 GC07M150566 GC07M144747


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 triple-a syndrome, and fanconi's anemia. GO annotations related to this gene include transcription coactivator activity and receptor binding. An important paralog of this gene is SMARCD2.

UniProtKB/Swiss-Prot: SMRD3_HUMAN, Q6STE5
Function: Plays a role in ATP dependent nucleosome remodeling by SMARCA4 containing complexes. 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 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 SMARCD3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007933.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the SMARCD3 gene promoter:
         PPAR-gamma1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): SMARCD3 promoter sequence
   Search Chromatin IP Primers for SMARCD3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SMARCD3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q35-q36   Ensembl cytogenetic band:  7q36.1   HGNC cytogenetic band: 7q35-q36

SMARCD3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMARCD3 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M150935:  view genomic region     (about GC identifiers)

Start:
150,935,850 bp from pter      End:
150,974,982 bp from pter
Size:
39,133 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 150,265,596-150,303,777     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SMRD3_HUMAN, Q6STE5 (See protein sequence)
Recommended Name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3  
Size: 483 amino acids; 55016 Da
Subunit: Component of the BAF complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2,
SMARCA4/BRG1/BAF190A, 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. Interacts with SMARCA4/BRG1/BAF190A, the catalytic subunit of the SWI/SNF related
nucleosome-remodeling complexes BRG1(I) and BRG1(II). The precise distribution of the related SMARCD1, SMARCD2
and SMARCD3 proteins among these and other SWI/SNF nucleosome-remodeling complexes is not fully known. 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. May allow
recruitment of Swi/SNF containing complexes specifically to promoters where these factors are located. 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)
Sequence caution: Sequence=AAC50697.1; Type=Frameshift; Positions=41, 65, 78;
Secondary accessions: D3DX10 Q2YD86 Q75MJ2 Q75MR8 Q92926 Q9BUH1
Alternative splicing: 2 isoforms:  Q6STE5-1   Q6STE5-2   

Explore the universe of human proteins at neXtProt for SMARCD3: NX_Q6STE5

Explore proteomics data for SMARCD3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys131
  • Modification sites at PhosphoSitePlus

  • See SMARCD3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001003801.1  NP_001003802.1  NP_003069.2  

    ENSEMBL proteins: 
     ENSP00000262188   ENSP00000376558   ENSP00000417908   ENSP00000417145   ENSP00000419886  
     ENSP00000349254  
    Reactome Protein details: Q6STE5

    SMARCD3 Human Recombinant Protein Products:

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    Novus Biologicals SMARCD3 Lysates
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    Cloud-Clone Corp. Proteins for SMARCD3

    SMARCD3 Antibody Products:

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    Cloud-Clone Corp. ELISAs for SMARCD3
    Cloud-Clone Corp. CLIAs for SMARCD3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR003121 SWIB_MDM2_domain
     IPR019835 SWIB_domain

    Graphical View of Domain Structure for InterPro Entry Q6STE5

    ProtoNet protein and cluster: Q6STE5

    1 Blocks protein domain: IPB003121 SWIB complex

    UniProtKB/Swiss-Prot: SMRD3_HUMAN, Q6STE5
    Similarity: Belongs to the SMARCD family
    Similarity: Contains 1 SWIB domain


    SMARCD3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SMRD3_HUMAN, Q6STE5
    Function: Plays a role in ATP dependent nucleosome remodeling by SMARCA4 containing complexes. 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 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)

         Genatlas biochemistry entry for SMARCD3:
    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

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity NAS8804307
    GO:0005102receptor binding IPI14701856
    GO:0005515protein binding IPI14701856
    GO:0008134transcription factor binding IPI14701856
    GO:0016922ligand-dependent nuclear receptor binding IPI17363140
         
    SMARCD3 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SMARCD3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMARCD3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMARCD3

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    Predesigned siRNA for gene silencing in human, mouse, rat SMARCD3

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    GenScript: all cDNA clones in your preferred vector (see all 3): SMARCD3 (NM_001003801)
    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SMRD3_HUMAN, Q6STE5: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IDA17363140
    GO:0005634nucleus IDA14701856
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA17363140
    GO:0016514SWI/SNF complex NAS14701856

    SMARCD3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SMARCD3 About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    PPARA Activates Gene Expression0.63
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.65
    Transcriptional Regulation of White Adipocyte Differentiation0.38
    2Circadian Repression of Expression by REV-ERBA
    Circadian Repression of Expression by REV-ERBA0.88
    YAP1- and WWTR1 (TAZ)-stimulated gene expression0.40
    RORA Activates Circadian Expression0.88
    3Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.75
    Activation of Gene Expression by SREBP (SREBF)0.75
    4Circadian Clock
    Circadian Clock0.66
    BMAL1-CLOCK/NPAS2 Activates Circadian Expression0.66
    5Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SMARCD3
        AMPK Enzyme Complex Pathway
    Glucocorticoid Receptor Signaling
    Chromatin Remodeling

    2 GeneGo (Thomson Reuters) Pathways for SMARCD3
        Transcription Ligand-dependent activation of the ESR1/SP pathway
    Development Ligand-dependent activation of the ESR1/AP-1 pathway

    2 BioSystems Pathways for SMARCD3
        Prostate Cancer
    LKB1 signaling events

    Selected Reactome Pathways for SMARCD3 (see all 10)
        Transcriptional regulation of white adipocyte differentiation
    Circadian Clock
    Transcriptional activation of mitochondrial biogenesis
    YAP1- and WWTR1 (TAZ)-stimulated gene expression
    Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)



    SMARCD3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SMARCD3: 
              Polycomb & Trithorax Complexes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat
              PPAR Targets in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SMARCD3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SMARCD3 (Q6STE51, 3 ENSP000002621884) via UniProtKB, MINT, STRING, and/or I2D (see all 226)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPARGP372311, 3, ENSP000002878204EBI-488506,EBI-781384 I2D: score=1 STRING: ENSP00000287820
    STARD13Q9Y3M83, ENSP000003387854I2D: score=2 STRING: ENSP00000338785
    FANCAO153603, ENSP000003739524I2D: score=1 STRING: ENSP00000373952
    GRB2P629933, ENSP000003390074I2D: score=1 STRING: ENSP00000339007
    JUNP054123, ENSP000003602664I2D: score=1 STRING: ENSP00000360266
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002052positive regulation of neuroblast proliferation IDA18816825
    GO:0003007heart morphogenesis ----
    GO:0003139secondary heart field specification IEA--
    GO:0003219cardiac right ventricle formation IEA--
    GO:0003407neural retina development IEP18816825

    SMARCD3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SMARCD3 (SMRD3)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SMARCD3 gene (3 alternative transcripts): 
    NM_001003801.1  NM_001003802.1  NM_003078.3  

    Unigene Cluster for SMARCD3:

    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3
    Hs.647067  [show with all ESTs]
    Unigene Representative Sequence: BX648385
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000496530 ENST00000262188(uc003wjs.3) ENST00000392811(uc003wju.3)
    ENST00000469154(uc011kvh.1) ENST00000472789 ENST00000470588 ENST00000485592
    ENST00000472988 ENST00000485610(uc010lqa.1) ENST00000472103 ENST00000489503
    ENST00000477169 ENST00000460431 ENST00000491651 ENST00000356800(uc003wjt.3)

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      QuantiTect SYBR Green Assays in human, mouse, rat SMARCD3
      QuantiFast Probe-based Assays in human, mouse, rat SMARCD3

    Additional mRNA sequence: 

    AK127595.1 AK297876.1 AK309500.1 AK316173.1 AY450430.1 AY450431.1 BC002628.2 BC110350.1 
    BX648385.1 U66619.1 

    14 DOTS entries:

    DT.100823978  DT.95162257  DT.97806919  DT.95162264  DT.100040559  DT.92444404  DT.100032588  DT.97835958 
    DT.100823987  DT.100831629  DT.92444405  DT.100735825  DT.100761446  DT.100823983 

    Selected AceView cDNA sequences (see all 226):

    AI377853 AL537989 F30206 BM552001 AY450430 BM783536 BU521158 BQ955489 
    AI878920 BF435073 CD671355 BM755770 AA402202 BG825152 CB045063 Z38748 
    BQ670467 AK127595 BQ954817 BM758376 CR602391 AA077344 BM701140 CR610746 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SMARCD3 (see all 9)    About this scheme

    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:                                                                                      -                                             


    ECgene alternative splicing isoforms for SMARCD3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SMARCD3 expression in normal human tissues (normalized intensities)      SMARCD3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTAAGCTTCT
    SMARCD3 Expression
    About this image


    SMARCD3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Primitive Heart Tube Cells Primitive Heart Tube
     
     Primitive Streak (Early Embryonic Tissues)    fully expand to see all 2 entries
             Primitive streak-like cells
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Monocytes Peripheral Blood
     
     Limb (Muscoskeletal System)
             Limb Bud Mesenchyme Cells Limb Bud
     
     Inner Cell Mass (Early Embryonic Tissues)
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
    SMARCD3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SMARCD3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.647067

    UniProtKB/Swiss-Prot: SMRD3_HUMAN, Q6STE5
    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SMARCD3: 
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              Epigenetic Chromatin Remodeling Factors in human mouse rat
              PPAR Targets in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SMARCD3 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smarcd31 , 5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 less1, 5 93.51(n)1
    99.79(a)1
      5 (11.93 cM)5
    669931  NM_025891.31  NP_080167.31 
     245908185 
    chicken
    (Gallus gallus)
    Aves SMARCD31 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 less 76.06(n)
    86.43(a)
      430336  XM_004939024.1  XP_004939081.1 
    zebrafish
    (Danio rerio)
    Actinopterygii smarcd3b1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3b less 78.01(n)
    89.08(a)
      562140  NM_001127306.1  NP_001120778.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Bap603 general RNA polymerase II
    transcription factor less
    70(a)   11E1   --
    worm
    (Caenorhabditis elegans)
    Secernentea ZK1128.53 D15Kz1 protein homolog 51(a)
    (best of 2)
      III(10192443-10194381)   --


    ENSEMBL Gene Tree for SMARCD3 (if available)
    TreeFam Gene Tree for SMARCD3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SMARCD3 gene
    SMARCD22  SMARCD12  
    2 SIMAP similar genes for SMARCD3 using alignment to 4 protein entries:     SMRD3_HUMAN (see all proteins):
    SMARCD1    SMARCD2

    SMARCD3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SMARCD3 (see all 827)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1130836321,2
    C--144761245(+) TCCGAA/GGCCAG 2 -- int10--------
    rs38383291,2
    C--150274336(-) AGGGC-/CCGGC 
            
    TGGGA
    3 -- int10--------
    rs761411561,2
    C--150288724(+) TCAACC/TTTTTT 2 -- int10--------
    rs613561471,2
    C--150937075(+) TTTTTT/-AATTT 3 -- int11Minor allele frequency- -:0.50NA 2
    rs616674631,2
    C--150937377(+) CATACG/-GGCCC 3 -- int12Minor allele frequency- -:0.00NA CSA 8
    rs113767531,2
    C--150942333(+) CGACG-/GCCGCA 3 -- int10--------
    rs113900701,2
    C--150947027(+) AGGAGC/-CCGTG 2 -- int11Minor allele frequency- -:0.00NA 2
    rs113900691,2
    C--150947047(+) GGCCCC/-TTGGG 2 -- int11Minor allele frequency- -:0.00NA 2
    rs58884341,2
    C--150950680(+) CTGGGC/-CGCTG 2 -- int11Minor allele frequency- -:0.00NA 2
    rs58884351,2
    C--150950705(+) GCTGGC/-CCACA 2 -- int12Minor allele frequency- -:0.00NA CSA 4

    HapMap Linkage Disequilibrium report for SMARCD3 (150935850 - 150974982 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SMARCD3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv465216CNV Loss19166990
    nsv889487CNV Loss21882294
    nsv889488CNV Loss21882294
    nsv889476CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601737    OMIM disorders: --

    8 diseases for SMARCD3:    About MalaCards
    triple-a syndrome    fanconi's anemia    thyroiditis    neuronitis
    malaria    prostate cancer    pancreatitis    prostatitis


    SMARCD3 for disorders           About GeneDecksing


    Export disorders for SMARCD3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SMARCD3 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with SMARCD3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Diversity and specialization of mammalian SWI/SNF complexes. (PubMed id 8804307)1, 2, 3 Wang W.... Crabtree G.R. (Genes Dev. 1996)
    2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    3. Transcription factors and nuclear receptors interact with the SWI/SNF complex through the BAF60c subunit. (PubMed id 14701856)1, 2 Debril M.-B....Auwerx J. (J. Biol. Chem. 2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    6. Five SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin (SMARC) genes are dispersed in the human genome. (PubMed id 9693044)1, 3 Ring H.Z....Francke U. (Genomics 1998)
    7. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (PLoS Genet. 2013)
    8. Baf60c drives glycolytic metabolism in the muscle and improves systemic glucose homeostasis through Deptor-mediated Akt activation. (PubMed id 23563706)1 Meng Z.X....Lin J.D. (Nat. Med. 2013)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. Phosphorylation and recruitment of BAF60c in chromatin remodeling for lipogenesis in response to insulin. (PubMed id 23219531)1 Wang Y....Sul H.S. (Mol. Cell 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6604 HGNC: 11108 AceView: SMARCD3 Ensembl:ENSG00000082014 euGenes: HUgn6604
    ECgene: SMARCD3 H-InvDB: SMARCD3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SMARCD3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SMARCD3 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SMARCD3 gene:
    Search GeneIP for patents involving SMARCD3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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