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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SMARCD2 Gene

protein-coding   GIFtS: 62
GCID: GC17M061909

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)
About This Section

Aliases
SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of
Chromatin, Subfamily D, Member 21 2
     60 KDa BRG-1/Brm-Associated Factor Subunit B2 3
BAF60B2 3 5     BRG1-Associated Factor 60B2 3
Chromatin Remodeling Complex BAF60B Subunit1 2     CRACD22
Mammalian Chromatin Remodeling Complex BRG1-Associated Factor 60B1 2     Rsc6p2
SWI/SNF Complex 60 KDa Subunit B1 2     SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin
Subfamily D Member 22
Swp73-Like Protein1 2     

External Ids:    HGNC: 111071   Entrez Gene: 66032   Ensembl: ENSG000001086047   OMIM: 6017365   UniProtKB: Q929253   

Export aliases for SMARCD2 gene to outside databases

Previous GC identifers: GC17M061559 GC17M064335 GC17M062250 GC17M062382 GC17M059263 GC17M057277


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SMARCD2 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. Alternatively spliced transcript variants
encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for SMARCD2 Gene: 
SMARCD2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2) is a protein-coding gene. Diseases associated with SMARCD2 include triple-a syndrome, and fanconi's anemia, and among its related super-pathways are Development Ligand-dependent activation of the ESR1/AP-1 pathway and PGC1Alpha Pathway. GO annotations related to this gene include transcription coactivator activity. An important paralog of this gene is SMARCD3.

UniProtKB/Swiss-Prot: SMRD2_HUMAN, Q92925
Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling
(alteration of DNA-nucleosome topology)

Gene Wiki entry for SMARCD2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMARCD2 gene promoter:
         Elk-1   RelA   AP-4   NF-kappaB   Max   AREB6   NF-kappaB2   NF-kappaB1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMARCD2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SMARCD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMARCD2


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

Entrez Gene cytogenetic band: 17q23-q24   Ensembl cytogenetic band:  17q23.3   HGNC cytogenetic band: 17q23-q24

SMARCD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMARCD2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M061909:  view genomic region     (about GC identifiers)

Start:
61,909,441 bp from pter      End:
61,920,425 bp from pter
Size:
10,985 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SMRD2_HUMAN, Q92925 (See protein sequence)
Recommended Name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2  
Size: 531 amino acids; 58921 Da
Subunit: Component of the BAF complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2,
SMARCA4/BRG1, 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. May interact with SMARCA4, 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. Interacts with UNKL
Subcellular location: Nucleus
Sequence caution: Sequence=AAC50696.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAF20280.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A5PLL5 A6NNQ7 B4DV56 B4E1R6 Q7L2I6 Q9UHZ1
Alternative splicing: 3 isoforms:  Q92925-1   Q92925-2   Q92925-3   (Produced by aberrant splicing sites)

Explore the universe of human proteins at neXtProt for SMARCD2: NX_Q92925

Explore proteomics data for SMARCD2 at MOPED 

Post-translational modifications:

  • UniProtKB: Ubiquitinated through a signaling process involving RAC1 and the RING finger protein UNKL
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92925

  • SMARCD2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SMARCD2 Protein Expression
    REFSEQ proteins: NP_001091896.1  
    ENSEMBL proteins: 
     ENSP00000392617   ENSP00000318451   ENSP00000225742   ENSP00000398946   ENSP00000464503  
     ENSP00000463793   ENSP00000462761  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016514SWI/SNF complex IDA8804307

    SMARCD2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR003121 SWIB_MDM2_domain

    Graphical View of Domain Structure for InterPro Entry Q92925

    ProtoNet protein and cluster: Q92925

    1 Blocks protein domain: IPB003121 SWIB complex

    UniProtKB/Swiss-Prot: SMRD2_HUMAN, Q92925
    Similarity: Belongs to the SMARCD family
    Similarity: Contains 1 SWIB domain


    SMARCD2 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SMRD2_HUMAN, Q92925
    Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling
    (alteration of DNA-nucleosome topology)

         Genatlas biochemistry entry for SMARCD2:
    general transcriptional activator S cerevisiae SWI/SNF related protein,matrix associated,actin-dependent regulator
    of chromatin,subfamily D,member 2,component of the chromatin remodeling complex,preferentially expressed in
    muscle and pancreas

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity NAS8804307
    GO:0005515protein binding IPI--
         
    SMARCD2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SMARCD2:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SMARCD2 
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    hsa-miR-3607-3p hsa-miR-301a hsa-miR-30d hsa-miR-650 hsa-miR-9 hsa-miR-30a hsa-miR-3612 hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidSMARCD2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMARCD2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SMARCD2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Development Ligand-dependent activation of the ESR1/AP-1 pathway
    Development Ligand-dependent activation of the ESR1/AP-1 pathway0.37
    Chromatin Remodeling0.30
    Transcription Ligand-dependent activation of the ESR1/SP pathway0.37
    2PEDF Induced Signaling
    Glucocorticoid Receptor Signaling0.43
    3Prostate Cancer
    Prostate Cancer0.32
    4BRCA1 Pathway
    BRCA1 Pathway
    5AMPK Enzyme Complex Pathway
    AMPK Enzyme Complex Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for SMARCD2
        Development Ligand-dependent activation of the ESR1/AP-1 pathway
    Transcription Ligand-dependent activation of the ESR1/SP pathway

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SMARCD2
        AMPK Enzyme Complex Pathway
    BRCA1 Pathway
    Glucocorticoid Receptor Signaling
    Chromatin Remodeling

    2 GeneGo (Thomson Reuters) Pathways for SMARCD2
        Transcription Ligand-dependent activation of the ESR1/SP pathway
    Development Ligand-dependent activation of the ESR1/AP-1 pathway

    1 BioSystems Pathway for SMARCD2
        Prostate Cancer



    SMARCD2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SMARCD2

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

    5/36 Interacting proteins for SMARCD2 (Q929252, 3 ENSP000003926174) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RELBQ012012, 3MINT-49013 I2D: score=2 
    SMARCA4P515323, ENSP000003507204I2D: score=4 STRING: ENSP00000350720
    XRN1Q8IZH23, ENSP000002649514I2D: score=4 STRING: ENSP00000264951
    UNKLQ9H9P53, ENSP000003848504I2D: score=2 STRING: ENSP00000384850
    BRCA1P383983, ENSP000003502834I2D: score=1 STRING: ENSP00000350283
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006337nucleosome disassembly IDA8895581
    GO:0006338chromatin remodeling IDA11726552
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter NAS8804307

    SMARCD2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SMARCD2 (SMRD2)

    Search CenterWatch for drugs/clinical trials and news about SMARCD2 / SMRD2

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SMARCD2 gene (2 alternative transcripts): 
    NM_001098426.1  NM_003077.3  

    Unigene Cluster for SMARCD2:

    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2
    Hs.250581  [show with all ESTs]
    Unigene Representative Sequence: NM_001098426
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000448276(uc010wpt.1 uc010dea.1 uc010deb.1) ENST00000323347
    ENST00000225742 ENST00000450364 ENST00000584483 ENST00000584400 ENST00000578234
    ENST00000581832 ENST00000580054 ENST00000577686 ENST00000577990
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    hsa-miR-3607-3p hsa-miR-301a hsa-miR-30d hsa-miR-650 hsa-miR-9 hsa-miR-30a hsa-miR-3612 hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidSMARCD2 3' UTR sequence
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    Additional mRNA sequence: 

    AF113019.1 AK025917.1 AK300939.1 AK303951.1 AK307944.1 BC018953.2 BC136322.1 BC142963.1 
    U66618.1 

    18 DOTS entries:

    DT.100812531  DT.100048389  DT.100812532  DT.99955808  DT.414952  DT.121007119  DT.100812535  DT.100674436 
    DT.95191243  DT.121007439  DT.95313017  DT.121007306  DT.100059364  DT.121007381  DT.121007589  DT.95313011 
    DT.102845023  DT.91868540 

    7 AceView cDNA sequences:

    CR612124 CR593297 BC018953 AK025917 U66618 AF113019 NM_003077 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for SMARCD2 (see all 11)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14
    SP1:                                                                          -                             -                                             
    SP2:                                                                                                        -                                             
    SP3:              -     -           -                 -                       -                             -                                             
    SP4:              -                 -                 -                       -                                                                           
    SP5:                                -                 -                       -                             -                                             


    ECgene alternative splicing isoforms for SMARCD2

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SMARCD2 expression in normal human tissues (normalized intensities)      SMARCD2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGAGGCCAG
    SMARCD2 Expression
    About this image


    SMARCD2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Nose (Sensory Organs)    fully expand to see all 4 entries
             sensory organ/nose/nasal cavity   
     
     Neural Crest (Sensory Organs)
             sensory organ/nose/vomeronasal organ   
     
     Thymus (Hematopoietic System)
             Thymus
     
     Breast (Uncategorized)
             breast epithelium   
     
     Limb (Muscoskeletal System)
             Limb Bud Mesenchyme Cells Limb Bud

    See SMARCD2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMARCD2

    SOURCE GeneReport for Unigene cluster: Hs.250581

    UniProtKB/Swiss-Prot: SMRD2_HUMAN, Q92925
    Tissue specificity: Isoform 2 is expressed in the pancreas

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMARCD2

    (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)
    About This Section

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

    Orthologs for SMARCD2 gene from 8/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smarcd21 , 5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 less1, 5 90.96(n)1
    98.12(a)1
      11 (68.89 cM)5
    837961  NM_001130187.11  NP_001123659.11 
     1062631795 
    chicken
    (Gallus gallus)
    Aves SMARCD21 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 less 78.91(n)
    88.32(a)
      428275  XM_425835.3  XP_425835.3 
    lizard
    (Anolis carolinensis)
    Reptilia SMARCD26
    Uncharacterized protein
    81(a)
    1 ↔ 1
    6(71600075-71632853)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.12812 Transcribed sequence with moderate similarity to protein refNP_114084.1 (M.musculus) SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 [Mus musculus] less 79.03(n)    141998452 
    zebrafish
    (Danio rerio)
    Actinopterygii smarcd21 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 less 71.74(n)
    78.19(a)
      564317  XM_687657.5  XP_692749.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Bap603 general RNA polymerase II
    transcription factor less
    67(a)   11E1   --
    worm
    (Caenorhabditis elegans)
    Secernentea ZK1128.53 D15Kz1 protein homolog 49(a)
    (best of 2)
      III(10192443-10194381)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RSC6(YCR052W)4 Component of the RSC chromatin remodeling complex; essential for mitotic growth; homolog of SWI/SNF subunit Swp73p less   --   3(214994-216445) 850419  NP_009981.1 


    ENSEMBL Gene Tree for SMARCD2 (if available)
    TreeFam Gene Tree for SMARCD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SMARCD2 gene
    SMARCD32  SMARCD12  
    2 SIMAP similar genes for SMARCD2 using alignment to 7 protein entries:     SMRD2_HUMAN (see all proteins):
    SMARCD3    SMARCD1

    SMARCD2 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/271 SNPs in SMARCD2 are shown (see all 271)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1861630881,2
    --61909959(+) ACCCTC/TGCCCC 1 -- ut310--------
    rs799787461,2
    C,F--61909967(+) CCCAGG/CGGGAG 1 -- ut311Minor allele frequency- C:0.05WA 118
    rs1117343501,2
    C--61910007(+) GGTTCG/AGAAAT 1 -- ut311Minor allele frequency- A:0.50NA 2
    rs25846221,2
    C,F,H--61910167(-) TTAGTT/CTTATA 1 -- ut31 ese331Minor allele frequency- C:0.03NA NS EA WA CSA 2585
    rs1382566751,2
    --61910206(+) ACTCCC/TCACCC 1 -- ut310--------
    rs1427462471,2
    C--61910226(+) TGTCTA/GCGGCC 1 -- ut310--------
    rs1442990271,2
    C--61910227(+) GTCTGC/TGGCCC 1 -- ut310--------
    rs744214551,2
    C,F--61910287(+) AAAGAT/CCCCTG 1 -- ut311Minor allele frequency- C:0.05WA 118
    rs1910157991,2
    --61910308(+) TCAGGC/TGAATT 2 H R mis10--------
    rs798998711,2
    F--61910342(+) CCTTCG/ACTGCT 2 /R /* stg11Minor allele frequency- A:0.50NA 4

    HapMap Linkage Disequilibrium report for SMARCD2 (61909441 - 61920425 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SMARCD2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833510CNV Loss17160897
    nsv510720CNV Loss20534489
    nsv517272CNV Gain+Loss19592680

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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.)
    About This Section
    OMIM gene information: 601736    OMIM disorders: --

    6 diseases for SMARCD2:    About MalaCards
    triple-a syndrome    fanconi's anemia    anemia    thyroiditis
    breast cancer    leukemia

    1 disease from the University of Copenhagen DISEASES database for SMARCD2:
    triple-A syndrome

    SMARCD2 for disorders           About GeneDecksing


    Export disorders for SMARCD2 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)
    About This Section

    PubMed articles for SMARCD2 gene, integrated from 9 sources (see all 37):
    (articles sorted by number of sources associating them with SMARCD2)
        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. (1996)
    2. The SWI/SNF protein BAF60b is ubiquitinated through a signalling process involving Rac GTPase and the RING finger protein Unkempt. (PubMed id 20148946)1, 2 LorA"s P....Gacon G. (2010)
    3. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    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. (2004)
    5. 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. (1998)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    7. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    8. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 6603 HGNC: 11107 AceView: SMARCD2 Ensembl:ENSG00000108604 euGenes: HUgn6603
    ECgene: SMARCD2 H-InvDB: SMARCD2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SMARCD2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SMARCD2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SMARCD2 gene:
    Search GeneIP for patents involving SMARCD2

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



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