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

SGCD Gene

protein-coding   GIFtS: 64
GCID: GC05P155297

Sarcoglycan, Delta (35kDa Dystrophin-Associated Glycoprotein)

(Previous names: sarcoglycan, delta (35kD dystrophin-associated glycoprotein))
Microbiology & Infectious Diseases Congress
  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
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 limb-girdle muscular dystrophy type 2f, and delta-sarcoglycanopathy, and among its related super-pathways are Hypertrophic cardiomyopathy (HCM) and Allograft rejection. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_023133.13  NC_018916.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SGCD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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)
Subcellular location: Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasm, cytoskeleton
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:

  • UniProtKB: Glycosylated
  • UniProtKB: Disulfide bonds are present (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92629

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

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

    ENSEMBL proteins: 
     ENSP00000429378   ENSP00000403003   ENSP00000338343   ENSP00000430794   ENSP00000408324  

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    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for SGCD
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (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



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    LSBio Antibodies in human, mouse, rat for SGCD 

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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:
     IPR006875 Sarcoglycan

    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,
    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: 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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for SGCD 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

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


    (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 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 cardiomyopathy0.53
    2Allograft rejection
    Viral myocarditis0.35

    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SGCD

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

    5/22 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): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007010cytoskeleton organization ----
    GO:0007517muscle organ development TAS8841194

    SGCD 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 SGCD

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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
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    8/100 QIAGEN miScript miRNA 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
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    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 

    24/177 AceView cDNA sequences (see all 177):

    AI084448 BM662830 AW274663 AA022720 AW452147 BM699293 BX117774 BF512434 
    AI803497 AK129889 AI077859 BX108987 U58331 AI086387 AI803165 NM_000337 
    W95935 AA256613 AA056129 AI912519 AI433754 AA446248 AA883929 N23982 

    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™, 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

    SGCD expression in normal human tissues (normalized intensities)      SGCD embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Fibroblast
             Detroit 551
             BH2 Dermal Fibroblasts   
     
     Pancreas (Endocrine System)
             Pancreatic endoderm/endocrine precursor-like cells ( A scalable, suspension protocol...
     
     Epidermis (Integumentary System)
             Detroit 551
     
     Dermis (Uncategorized)
             BH2 Dermal Fibroblasts   
     
     Heart (Cardiovascular System)

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

    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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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SGCD gene from 6/13 species (see all 13)    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_414572.3  XP_414572.1 
    lizard
    (Anolis carolinensis)
    Reptilia SGCD6
    sarcoglycan, delta (35kDa dystrophin-associated gl...
    86(a)
    1 ↔ 1
    GL343205.1(2036753-2384640)
    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
    48.61(n)1
    40.53(a)1
      2B83
    311291  NM_001169169.11  NP_001162640.11 
    worm
    (Caenorhabditis elegans)
    Secernentea sgn-13 gamma-sarcoglycan 35(a)   II(8781992-8783467)   --


    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)
    About This Section
    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) 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

    10/9386 SNPs in SGCD are shown (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--------
    VAR_0104294
    ----see VAR_0104292 R Q mis40--------
    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

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SGCD
    DNA2.0 Custom Variant and Variant Library Synthesis for SGCD

    (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
    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

  • 18 diseases for SGCD:    About MalaCards
    limb-girdle muscular dystrophy type 2f    delta-sarcoglycanopathy    sgcd-related dilated cardiomyopathy    sarcoglycanopathies
    limb-girdle muscular dystrophy    dilated cardiomyopathy    muscular dystrophy    hypertrophic cardiomyopathy
    congestive heart failure    myocarditis    macular degeneration    age related macular degeneration
    spasticity    myopathy    esophageal squamous cell carcinoma    neuropathy
    esophagitis    squamous cell carcinoma

    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

    PubMed articles for SGCD gene, integrated from 9 sources (see all 57):
    (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. (2000)
    2. A novel custom resequencing array for dilated cardiom yopathy. (PubMed id 20474083)1, 4 Zimmerman R.S....Funke B.H. (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. (2010)
    4. Delta-sarcoglycan gene polymorphism frequency in Amer indian and Mestizo populations of Mexico. (PubMed id 20384457)1, 4 OrdoA+ez-Razo R.M....Salamanca-GA^mez F. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. Genome-wide association study of anthropometric traits in Korcula Island, Croatia. (PubMed id 19260139)1, 4 Polasek O....Rudan I. (2009)
    7. Replication of a genome-wide case-control study of esophageal squamous cell carcinoma. (PubMed id 18649358)1, 4 Ng D....Taylor P.R. (2008)
    8. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)1, 4 Baranzini S.E....Oksenberg J.R. (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. (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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 6444 HGNC: 10807 AceView: SGCD Ensembl:ENSG00000170624 euGenes: HUgn6444
    ECgene: SGCD Kegg: 6444 H-InvDB: SGCD

    (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 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/sites/GeneTests/lab/gene/SGCD

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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