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SGCD Gene

protein-coding   GIFtS: 66
GCID: GC05P155297

Sarcoglycan, Delta (35kDa Dystrophin-Associated Glycoprotein)

(Previous names: sarcoglycan, delta (35kD dystrophin-associated glycoprotein))
Microbiology & Infectious Diseases Congress
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(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
Sarcoglycan, Delta (35kDa Dystrophin-Associated Glycoprotein)1 2     SGCDP2
35 KDa Dystrophin-Associated Glycoprotein2 3     delta-SG2
35DAG2 3     delta-sarcoglycan2
CMD1L2 5     Dystrophin Associated Glycoprotein, Delta Sarcoglycan2
SGD2 5     Placental Delta Sarcoglycan2
Sarcoglycan, Delta (35kD Dystrophin-Associated Glycoprotein)1     Delta-SG3
DAGD2     LGMD2F5
SG-delta2     

External Ids:    HGNC: 108071   Entrez Gene: 64442   Ensembl: ENSG000001706247   OMIM: 6014115   UniProtKB: Q926293   

Export aliases for SGCD gene to outside databases

Previous GC identifers: GC05P155803 GC05P156305 GC05P155480 GC05P155734 GC05P155686 GC05P150847


(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 SGCD Gene:
The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a
subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and
the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in
this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated
cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this
gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for SGCD Gene:
SGCD (sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)) is a protein-coding gene. Diseases associated with SGCD include delta-sarcoglycanopathy, and cardiomyopathy, dilated, 1l. An important paralog of this gene is SGCG.

UniProtKB/Swiss-Prot: SGCD_HUMAN, Q92629
Function: Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a
link between the F-actin cytoskeleton and the extracellular matrix

Gene Wiki entry for SGCD 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_000005.10  NT_023133.14  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SGCD gene promoter:
         GATA-3   POU3F2   GATA-1   GATA-2   Egr-2   AREB6   POU2F1   HFH-1   POU2F1a   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSGCD promoter sequence
   Search Chromatin IP Primers for SGCD

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


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

Entrez Gene cytogenetic band: 5q33-q34   Ensembl cytogenetic band:  5q33.2   HGNC cytogenetic band: 5q33-q34

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P155297:  view genomic region     (about GC identifiers)

Start:
155,297,354 bp from pter      End:
156,194,799 bp from pter
Size:
897,446 bases      Orientation:
plus strand

(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: SGCD_HUMAN, Q92629 (See protein sequence)
Recommended Name: Delta-sarcoglycan  
Size: 289 amino acids; 32071 Da
Subunit: Interacts with FLNC and DAG1. Cross-link to form 2 major subcomplexes: one consisting of SGCB, SGCD and
SGCG and the other consisting of SGCB and SGCD. The association between SGCB and SGCG is particularly strong
while SGCA is loosely associated with the other sarcoglycans (By similarity)
Secondary accessions: A8K9S9 Q53XA5 Q99644
Alternative splicing: 3 isoforms:  Q92629-1   Q92629-2   Q92629-3   

Explore the universe of human proteins at neXtProt for SGCD: NX_Q92629

Explore proteomics data for SGCD at MOPED

Post-translational modifications: 

  • Glycosylated1
  • Disulfide bonds are present (By similarity)1
  • Glycosylation2 at Asn60, Asn108, Asn284
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (3 alternative transcripts): 
    NP_000328.2  NP_001121681.1  NP_758447.1  

    ENSEMBL proteins: 
     ENSP00000429378   ENSP00000403003   ENSP00000338343   ENSP00000430794   ENSP00000408324  

    SGCD Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for SGCD
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    Novus Biologicals SGCD Proteins
    Novus Biologicals SGCD Lysates
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    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for SGCD
    Browse Proteins at Cloud-Clone Corp.

    SGCD Antibody Products:

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    LSBio Antibodies in human, mouse, rat for SGCD

    SGCD Assay Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (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:
     IPR006875 Sarcoglycan
     IPR027661 SGCD

    Graphical View of Domain Structure for InterPro Entry Q92629

    ProtoNet protein and cluster: Q92629

    1 Blocks protein domain: IPB006875 Sarcoglycan complex subunit protein

    UniProtKB/Swiss-Prot: SGCD_HUMAN, Q92629
    Similarity: Belongs to the sarcoglycan beta/delta/gamma/zeta family


    SGCD 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: SGCD_HUMAN, Q92629
    Function: Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a
    link between the F-actin cytoskeleton and the extracellular matrix

         Genatlas biochemistry entry for SGCD:
    sarcoglycan delta,dystrophin associated protein A4D (35kDa),expressed in skeletal,cardiac muscle and vascular
    smooth muscle,associating with other sarcoglycans in a stoichiometrically equal complex,stabilizing the link
    between dystroglycan and dystrophin/utrophin

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    SGCD for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SGCD:
     Increased G1 DNA content  Increased cell size 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sgcd):
     cardiovascular system  homeostasis/metabolism  mortality/aging  muscle 

    SGCD for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SGCD: Sgcdtm1Kcam Sgcdtm1Mcn

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SGCD
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SGCD

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SGCD
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SGCD

    miRNA
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    miRTarBase miRNAs that target SGCD:
    hsa-mir-335-5p (MIRT018675)

    Block miRNA regulation of human, mouse, rat SGCD using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SGCD (see all 100):
    hsa-miR-124* hsa-miR-579 hsa-miR-376b hsa-miR-15a hsa-miR-218-1* hsa-miR-489 hsa-miR-29a* hsa-miR-761
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SGCD

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 3): SGCD (NM_172244)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SGCD

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SGCD


    (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
    SGCD_HUMAN, Q92629: Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasm, cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    mitochondrion2
    cytosol1
    endoplasmic reticulum1
    extracellular1
    nucleus1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane TAS8842738
    GO:0016010dystrophin-associated glycoprotein complex IDA17993586
    GO:0016012sarcoglycan complex IEA--

    SGCD 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 SGCD About    
    See pathways by source

    SuperPathContained pathways About
    1Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Dilated cardiomyopathy0.75
    Arrhythmogenic right ventricular cardiomyopathy0.54
    2Allograft rejection
    Viral myocarditis0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SGCD
        Arrhythmogenic right ventricular cardiomyopathy


    4 Kegg Pathways  (Kegg details for SGCD):
        Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    Dilated cardiomyopathy
    Viral myocarditis


    SGCD for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SGCD
    Interactions:

        GeneGlobe Interaction Network for SGCD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for SGCD (Q926292, 3 ENSP000003383434) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FLNCQ143152, 3, ENSP000003271454MINT-14400 MINT-14402 MINT-14399 MINT-14401 I2D: score=4 STRING: ENSP00000327145
    SGCAQ165863, ENSP000002620184I2D: score=2 STRING: ENSP00000262018
    DMDP115323, ENSP000003549234I2D: score=1 STRING: ENSP00000354923
    SGCZQ96LD13, ENSP000003715124I2D: score=1 STRING: ENSP00000371512
    SGCBQ165853, ENSP000003708394I2D: score=3 STRING: ENSP00000370839
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007517muscle organ development TAS8841194

    SGCD 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 SGCD



    (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 SGCD gene (3 alternative transcripts): 
    NM_000337.5  NM_001128209.1  NM_172244.2  

    Unigene Cluster for SGCD:

    Sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
    Hs.387207  [show with all ESTs]
    Unigene Representative Sequence: NM_000337
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000517913(uc003lwa.1) ENST00000435422(uc003lwc.4 uc003lwd.4)
    ENST00000337851 ENST00000524347 ENST00000447401(uc003lwb.3)
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SGCD using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SGCD (see all 100):
    hsa-miR-124* hsa-miR-579 hsa-miR-376b hsa-miR-15a hsa-miR-218-1* hsa-miR-489 hsa-miR-29a* hsa-miR-761
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SGCD
    Clone
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    OriGene clones in human, mouse for SGCD (see all 18)
    OriGene ORF clones in mouse, rat for SGCD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SGCD (NM_172244)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SGCD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SGCD
    Primer
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    OriGene qPCR primer pairs and template standards for SGCD
    OriGene qSTAR qPCR primer pairs in human, mouse for SGCD
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SGCD
      QuantiTect SYBR Green Assays in human, mouse, rat SGCD
      QuantiFast Probe-based Assays in human, mouse, rat SGCD

    Additional mRNA sequence: 

    AF010236.1 AK129889.1 AK130068.1 AK292794.1 BC008431.1 BC020740.1 BX537948.1 U58331.1 
    X95191.1 

    4 DOTS entries:

    DT.100742340  DT.65286476  DT.453936  DT.120859376 

    Selected AceView cDNA sequences (see all 177):

    AI084448 BM662830 AW274663 AA022720 AW452147 BM699293 BX117774 BF512434 
    AI803497 AK129889 AI077859 BX108987 U58331 AI086387 AI803165 NM_000337 
    W95935 AA348496 N42912 BQ001955 BM698807 BQ181408 BX642431 AI417648 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SGCD    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9
    SP1:              -                                         -         
    SP2:                                                                  
    SP3:                                                                  


    ECgene alternative splicing isoforms for SGCD

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


    SGCD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Fibroblasts
             Detroit 551
     
     Epidermis (Integumentary System)
             Detroit 551
     
     Heart (Cardiovascular System)
    SGCD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SGCD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.387207

    UniProtKB/Swiss-Prot: SGCD_HUMAN, Q92629
    Tissue specificity: Most strongly expressed in skeletal and cardiac muscle. Also detected in smooth muscle. Weak
    expression in brain and lung

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    QuantiFast Probe-based Assays in human, mouse, rat SGCD
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SGCD

    (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 SGCD gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sgcd1 , 5 sarcoglycan, delta (dystrophin-associated glycoprotein)1, 5 90.31(n)1
    94.46(a)1
      11 (28.09 cM)5
    240521  NM_011891.41  NP_036021.11 
     468962535 
    chicken
    (Gallus gallus)
    Aves SGCD1 sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 81.83(n)
    86.11(a)
      416251  XM_414572.4  XP_414572.1 
    lizard
    (Anolis carolinensis)
    Reptilia SGCD6
    sarcoglycan, delta (35kDa dystrophin-associated gl...
    86(a)
    1 ↔ 1
    GL343205.1(2036753-2384640)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sgcd1 sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 72.92(n)
    79.86(a)
      100495350  XM_004912790.1  XP_004912847.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.275612 Danio rerio clone RK066A1A10 sarcoglycan delta (SGCD) more 74.2(n)    AY398418.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Scg&dgr;3
    Scgdelta1
    cytoskeletal anchoring cytoskeletal
    anchor protein3
    Sarcoglycan delta1
    39(a)3
    48.38(n)1
    40.79(a)1
      2B83
    311291  NM_001169169.11  NP_001162640.11 
    worm
    (Caenorhabditis elegans)
    Secernentea sgn-11 , 3 gamma-sarcoglycan3
    sgn-11
    35(a)3
    46.31(n)1
    36.43(a)1
      II(8781992-8783467)3
    1841621  NM_063466.31  NP_495867.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SGCD gene
    SGCG2  SGCZ2  
    2 SIMAP similar genes for SGCD using alignment to 2 protein entries:     SGCD_HUMAN (see all proteins):
    SGCG    SGCZ

    SGCD 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 SGCD (see all 9386)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0103964
    Limb-girdle muscular dystrophy 2F (LGMD2F)4--see VAR_0103962 E K mis40--------
    VAR_0131814
    Cardiomyopathy, dilated 1L (CMD1L)4--see VAR_0131812 S A mis40--------
    rs117485881,2
    C,F,Hnon-pathogenic1156159912(+) AAGTTT/CCTGCT 3 -- int15Minor allele frequency- C:0.01NS EA EU 992
    rs1219092981,2
    Cpathogenic1156246174(+) TCTTCG/TCTGCA 6 A S mis10--------
    rs1939223921,2
    Cprobable-non-pathogenic1155996034(+) TGCCTC/GTATTT 6 L syn10--------
    rs356508181,2
    C--150859542(+) ACTCT-/GT/TG 
            
    AATGC
    3 -- int11NA 2
    rs585333811,2
    C--150874635(+) AGAAA-/CTAAAG 3 -- int11Minor allele frequency- C:0.00CSA 2
    rs105294061,2
    C--150926596(+) TGCTT-/AAAAA/AAAAAAAA
    AAAAAAAAAAAAAAAA
    AAAAA
    6 -- int1 cds1 trp30--------
    rs3715036911,2
    C--150932497(+) TAGGG-/GTT/  
     TTG
    /TTT
    TTTTT
    9 -- cds11NA 2
    rs30740501,2
    C--150932498(+) GGGTT-/G/GTT 
            
    TTTGT
    6 -- int1 cds10--------

    HapMap Linkage Disequilibrium report for SGCD (155297354 - 155547354 bp, first 250kb of SGCD)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SGCD (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2657305CNV Deletion23128226
    esv2668032CNV Deletion23128226
    esv2675002CNV Deletion23128226
    esv273222CNV Insertion20981092
    esv27446CNV Loss19812545
    nsv883062CNV Loss21882294
    nsv830522CNV Gain17160897
    esv33006CNV Gain17666407
    nsv830523CNV Gain17160897
    nsv830524CNV Gain17160897

    Human Gene Mutation Database (HGMD): SGCD
    Locus Specific Mutation Databases (LSDB): SGCD

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SGCD
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 601411   
    OMIM disorders: 601287  606685  
    UniProtKB/Swiss-Prot: SGCD_HUMAN, Q92629
  • Limb-girdle muscular dystrophy 2F (LGMD2F) [MIM:601287]: An autosomal recessive degenerative myopathy
    initially affecting the proximal limb girdle musculature. Muscle from patients shows a complete loss of
    delta-sarcoglycan as well as of the others components of the sarcoglycan complex. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Cardiomyopathy, dilated 1L (CMD1L) [MIM:606685]: A disorder characterized by ventricular dilation and
    impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of
    premature death. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for SGCD (see all 25):    
    About MalaCards
    delta-sarcoglycanopathy    cardiomyopathy, dilated, 1l    limb-girdle muscular dystrophy type 2f    sgcd-related dilated cardiomyopathy
    sarcoglycanopathies    cardiomyopathy, dilated, 1w    limb-girdle muscular dystrophy    dilated cardiomyopathy
    5q- syndrome    muscular dystrophy    congestive heart failure    myocarditis
    age related macular degeneration    hypertrophic cardiomyopathy    spasticity    myopathy
    esophageal squamous cell carcinoma    neuropathy    squamous cell carcinoma    esophagitis

    3 diseases from the University of Copenhagen DISEASES database for SGCD:
    Myopathy     Neuropathy     Dilated cardiomyopathy

    SGCD for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for SGCD gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muscular dystrophies 74.2 2 19218289 (1), 8173351 (1)
    muscular dystrophy duchenne 55.9 3 8188626 (2), 1461282 (1)

    GeneTests: SGCD
    GeneReviews: SGCD
    Genetic Association Database (GAD): SGCD
    Human Genome Epidemiology (HuGE) Navigator: SGCD (12 documents)

    Export disorders for SGCD 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

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    PubMed articles for SGCD gene, integrated from 10 sources (see all 59):
    (articles sorted by number of sources associating them with SGCD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. (PubMed id 10974018)1, 2, 3 Tsubata S.... Towbin J.A. (J. Clin. Invest. 2000)
    2. A novel custom resequencing array for dilated cardiomyopathy. (PubMed id 20474083)1, 4 Zimmerman R.S....Funke B.H. (Genet. Med. 2010)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Delta-sarcoglycan gene polymorphism frequency in Amerindian and Mestizo populations of Mexico. (PubMed id 20384457)1, 4 OrdoA+ez-Razo R.M....Salamanca-GA^mez F. (Genet Test Mol Biomarkers 2010)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Genome-wide association study of anthropometric traits in Korcula Island, Croatia. (PubMed id 19260139)1, 4 Polasek O....Rudan I. (Croat. Med. J. 2009)
    7. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)1, 4 Baranzini S.E....Oksenberg J.R. (Hum. Mol. Genet. 2009)
    8. Replication of a genome-wide case-control study of esophageal squamous cell carcinoma. (PubMed id 18649358)1, 4 Ng D....Taylor P.R. (Int. J. Cancer 2008)
    9. Impact of delta-sarcoglycan gene polymorphism on the occurrence of coronary spastic angina in Japanese patients with hypertrophic cardiomyopathy. (PubMed id 17652892)1, 4 Honda T....Ogawa H. (Circ. J. 2007)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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

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    Entrez Gene: 6444 HGNC: 10807 AceView: SGCD Ensembl:ENSG00000170624 euGenes: HUgn6444
    ECgene: SGCD Kegg: 6444 H-InvDB: SGCD

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for SGCD Pharmacogenomics, SNPs, Pathways
    LEIDEN Muscular Dystrophy page for SGCD Scientfic Information about Duchenne and Duchenne-like muscular dystrophies.
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SGCD[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SGCD gene:
    Search GeneIP for patents involving SGCD

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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