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SGCA Gene

protein-coding   GIFtS: 60
GCID: GC17P048243

Sarcoglycan, Alpha (50kDa Dystrophin-Associated Glycoprotein)

(Previous names: sarcoglycan, alpha (50kD dystrophin-associated glycoprotein))
(Previous symbol: ADL)
  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
Sarcoglycan, Alpha (50kDa Dystrophin-Associated Glycoprotein)1 2     Sarcoglycan, Alpha (50kD Dystrophin-Associated Glycoprotein)1
ADL1 2 3 5     50-DAG2
DAG22 3 5     A22
50kD DAG1 2     SCARMD12
50 KDa Dystrophin-Associated Glycoprotein2 3     adhalin2
50DAG2 3     alpha-SG2
DMDA22 5     alpha-sarcoglycan2
LGMD2D2 5     dystroglycan-22
Sarcoglycan1     Adhalin3
Adhalin (Limb Girdle Muscular Dystrophy 2D)1     Alpha-SG3
Alpha (50kD Dystrophin-Associated Glycoprotein; Adhalin)1     Dystroglycan-23

External Ids:    HGNC: 108051   Entrez Gene: 64422   Ensembl: ENSG000001088237   OMIM: 6001195   UniProtKB: Q165863   

Export aliases for SGCA gene to outside databases

Previous GC identifers: GC17P047841 GC17P050724 GC17P048583 GC17P048718 GC17P045598 GC17P043610


(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 SGCA Gene:
This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of
muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression
is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive
limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Oct 2008)

GeneCards Summary for SGCA Gene:
SGCA (sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)) is a protein-coding gene. Diseases associated with SGCA include limb-girdle muscular dystrophy, type 2d, and mcleod syndrome. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is SGCE.

UniProtKB/Swiss-Prot: SGCA_HUMAN, Q16586
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 SGCA 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_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SGCA gene promoter:
         Max1   Tal-1   Pax-5   FOXD3   Roaz   CREB   MZF-1   NRF-2   deltaCREB   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSGCA promoter sequence
   Search Chromatin IP Primers for SGCA

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


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

Entrez Gene cytogenetic band: 17q21   Ensembl cytogenetic band:  17q21.33   HGNC cytogenetic band: 17q21

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P048243:  view genomic region     (about GC identifiers)

Start:
48,241,575 bp from pter      End:
48,253,293 bp from pter
Size:
11,719 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SGCA_HUMAN, Q16586 (See protein sequence)
Recommended Name: Alpha-sarcoglycan precursor  
Size: 387 amino acids; 42875 Da
Subunit: Interacts with the syntrophin SNTA1. 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: A6NEB8 A8K3K7 Q13710 Q13712
Alternative splicing: 2 isoforms:  Q16586-1   Q16586-2   

Explore the universe of human proteins at neXtProt for SGCA: NX_Q16586

Explore proteomics data for SGCA at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn174, Asn246
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_000014.1  NP_001129169.1  

    ENSEMBL proteins: 
     ENSP00000423168   ENSP00000426571   ENSP00000345522   ENSP00000262018   ENSP00000422817  
     ENSP00000426104   ENSP00000426606   ENSP00000422030   ENSP00000444539   ENSP00000390371  

    SGCA Human Recombinant Protein Products:

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    OriGene Purified Protein for SGCA
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    OriGene Custom MassSpec
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    Novus Biologicals SGCA Proteins
    Novus Biologicals SGCA Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    SGCA Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for SGCA (alpha-Sarcoglycan)
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    Novus Biologicals SGCA Antibodies
    Abcam antibodies for SGCA
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for SGCA
    LSBio Antibodies in human, mouse, rat for SGCA

    SGCA Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for SGCA
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    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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    5 InterPro protein domains:
     IPR015919 Cadherin-like
     IPR013783 Ig-like_fold
     IPR006644 Cadg
     IPR008908 Sarcoglycan_2
     IPR028658 Alpha-SG

    Graphical View of Domain Structure for InterPro Entry Q16586

    ProtoNet protein and cluster: Q16586

    2 Blocks protein domains:
    IPB006644 Dystroglycan-type cadherin-like domain
    IPB008908 Sarcoglycan alphaepsilon


    UniProtKB/Swiss-Prot: SGCA_HUMAN, Q16586
    Similarity: Belongs to the sarcoglycan alpha/epsilon family


    SGCA 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: SGCA_HUMAN, Q16586
    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 SGCA:
    sarcoglycan alpha,adhalin,dystrophin associated glycoprotein (50kDa),expressed in skeletal and cardiac
    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:0005509calcium ion binding IEA--
         
    SGCA for ontologies           About GeneDecksing


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

         4 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Sgca):
     cardiovascular system  homeostasis/metabolism  immune system  muscle 

    SGCA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sgcatm1Kcam for SGCA

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

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

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat SGCA using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate SGCA
    SwitchGear 3'UTR luciferase reporter plasmidSGCA 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SGCA
    Predesigned siRNA for gene silencing in human, mouse, rat SGCA

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SGCA

    Clone
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    OriGene clones in human, mouse for SGCA (see all 13)
    OriGene ORF clones in mouse, rat for SGCA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SGCA (NM_000023)
    Sino Biological Human cDNA Clone for SGCA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SGCA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SGCA

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SGCA
    Browse ESI BIO Cell Lines and PureStem Progenitors for SGCA 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SGCA


    (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
    SGCA_HUMAN, Q16586: Cell membrane, sarcolemma; Single-pass type I membrane protein (By similarity). Cytoplasm,
    cytoskeleton (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular3
    cytoskeleton2
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    lysosome1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0005911cell-cell junction IEA--
    GO:0016010dystrophin-associated glycoprotein complex TAS7937874
    GO:0016012sarcoglycan complex IEA--

    SGCA 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 SGCA 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 SGCA
        Arrhythmogenic right ventricular cardiomyopathy



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


    SGCA for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including SGCA: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SGCA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for SGCA (Q165863 ENSP000002620184) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SGCDQ926293, ENSP000003383434I2D: score=2 STRING: ENSP00000338343
    BGNP218103, ENSP000003273364I2D: score=1 STRING: ENSP00000327336
    DAG1Q141183, ENSP000003124354I2D: score=1 STRING: ENSP00000312435
    SGCBQ165853, ENSP000003708394I2D: score=3 STRING: ENSP00000370839
    DMDP115323, ENSP000003549234I2D: score=1 STRING: ENSP00000354923
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006936muscle contraction IEA--
    GO:0007517muscle organ development IEA--

    SGCA 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 SGCA

    1 Novoseek inferred chemical compound relationship for SGCA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    creatinine 24.7 1 8967751 (1)



    SGCA for compounds           About GeneDecksing



    (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,
    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 SGCA gene (2 alternative transcripts): 
    NM_000023.2  NM_001135697.1  

    Unigene Cluster for SGCA:

    Sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
    Hs.463412  [show with all ESTs]
    Unigene Representative Sequence: BM544123
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000513942 ENST00000514934 ENST00000513821 ENST00000344627 ENST00000262018(uc002iqi.3 uc002iqj.3 uc010wmi.2)
    ENST00000502555 ENST00000511303 ENST00000512526 ENST00000504073 ENST00000508382
    ENST00000505964 ENST00000543315 ENST00000451235(uc010wmh.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SGCA using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate SGCA
    SwitchGear 3'UTR luciferase reporter plasmidSGCA 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SGCA
    Predesigned siRNA for gene silencing in human, mouse, rat SGCA
    Clone
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    OriGene clones in human, mouse for SGCA (see all 13)
    OriGene ORF clones in mouse, rat for SGCA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SGCA (NM_000023)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SGCA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SGCA
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SGCA
    OriGene qSTAR qPCR primer pairs in human, mouse for SGCA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SGCA
      QuantiTect SYBR Green Assays in human, mouse, rat SGCA
      QuantiFast Probe-based Assays in human, mouse, rat SGCA

    Additional mRNA sequence: 

    AK290622.1 AK293614.1 AK300710.1 BC025702.1 L34355.1 L35853.1 L46810.1 U08895.1 

    5 DOTS entries:

    DT.86840756  DT.86840755  DT.92070677  DT.86840754  DT.100019436 

    Selected AceView cDNA sequences (see all 61):

    NM_000023 U08895 BC025702 AU139735 BP372240 BI838308 L35853 BG826080 
    BU620452 BU727167 AJ572792 BQ183336 AI479385 BM688884 BM708938 BX112244 
    AA835076 BM554431 BM996755 AI097272 AW016935 AA424260 AA424162 AA993577 

    GeneLoc Exon Structure


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


    SGCA 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
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Smooth Muscle (Muscoskeletal System)
             Juxtaglomerular Cells Afferent Arteriole
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Kidney (Urinary System)
             Juxtaglomerular Cells Afferent Arteriole
    SGCA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SGCA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.463412

    UniProtKB/Swiss-Prot: SGCA_HUMAN, Q16586
    Tissue specificity: Most strongly expressed in skeletal muscle. Also expressed in cardiac muscle and, at much
    lower levels, in lung. In the fetus, most abundant in cardiac muscle and, at lower levels, in lung. Also detected
    in liver and kidney. Not expressed in brain

        Pathway & Disease-focused RT2 Profiler PCR Array including SGCA: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SGCA
    OriGene qSTAR qPCR primer pairs in human, mouse for SGCA
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    QuantiFast Probe-based Assays in human, mouse, rat SGCA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SGCA

    (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 SGCA gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sgca1 , 5 sarcoglycan, alpha (dystrophin-associated glycoprotein)1, 5 84.15(n)1
    88.89(a)1
      11 (59.01 cM)5
    203911  NM_009161.41  NP_033187.11 
     949627915 
    chicken
    (Gallus gallus)
    Aves SGCA6
    sarcoglycan, alpha (50kDa dystrophin-associated gl...
    40(a)
    1 ↔ 1
    JH375682.1(21-1479)
    lizard
    (Anolis carolinensis)
    Reptilia SGCA6
    sarcoglycan, alpha (50kDa dystrophin-associated gl...
    52(a)
    1 ↔ 1
    6(77499836-77515116)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sgca1 sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 56.82(n)
    53.98(a)
      100488410  XM_002935544.2  XP_002935590.2 
    zebrafish
    (Danio rerio)
    Actinopterygii sgca6
    sarcoglycan, alpha
    41(a)
    1 ↔ 1
    12(3669968-3684771) ENSDARG00000074156
    fruit fly
    (Drosophila melanogaster)
    Insecta Scgalpha6
    Sarcoglycan alpha
    16(a)
    1 → many
    2L(8303429-8305376)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SGCA gene
    SGCE2  
    1 SIMAP similar gene for SGCA using alignment to 10 protein entries:     SGCA_HUMAN (see all proteins):
    SGCE

    SGCA 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 SGCA (see all 372)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289336931,2,,4
    C,FLimb-girdle muscular dystrophy 2D (LGMD2D)4 pathogenic149259069(+) GGCTCC/TGCTAC 4 R C mis1 ese32Minor allele frequency- T:0.00NA EU 5523
    rs1378526231,2,,4
    CLimb-girdle muscular dystrophy 2D (LGMD2D)4 pathogenic149261665(+) CAGACC/G/TGTGAC 3 R C mis1 int10--------
    VAR_0104314
    Limb-girdle muscular dystrophy 2D (LGMD2D)4--see VAR_0104312 L P mis40--------
    VAR_0104194
    Limb-girdle muscular dystrophy 2D (LGMD2D)4--see VAR_0104192 P H mis40--------
    VAR_0104134
    Limb-girdle muscular dystrophy 2D (LGMD2D)4--see VAR_0104132 R C mis40--------
    VAR_0104324
    Limb-girdle muscular dystrophy 2D (LGMD2D)4--see VAR_0104322 P Q mis40--------
    VAR_0104104
    Limb-girdle muscular dystrophy 2D (LGMD2D)4--see VAR_0104102 G R mis40--------
    VAR_0104044
    Limb-girdle muscular dystrophy 2D (LGMD2D)4--see VAR_0104042 R C mis40--------
    VAR_0104034
    Limb-girdle muscular dystrophy 2D (LGMD2D)4--see VAR_0104032 L P mis40--------
    VAR_0104114
    Limb-girdle muscular dystrophy 2D (LGMD2D)4--see VAR_0104112 A V mis40--------

    HapMap Linkage Disequilibrium report for SGCA (48241575 - 48253293 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SGCA:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv507842CNV Insertion20534489
    nsv908588CNV Loss21882294
    dgv3225n71CNV Loss21882294

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

    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600119   
    OMIM disorders: 608099  
    UniProtKB/Swiss-Prot: SGCA_HUMAN, Q16586
  • Limb-girdle muscular dystrophy 2D (LGMD2D) [MIM:608099]: An autosomal recessive degenerative myopathy
    characterized by progressive muscle wasting from early childhood with loss of independent ambulation by teenage
    years. Muscle biopsy shows necrosis, decreased immunostaining for alpha sarcoglycan, and adhalin deficiency.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for SGCA (see all 27):    
    About MalaCards
    limb-girdle muscular dystrophy, type 2d    mcleod syndrome    limb-girdle muscular dystrophy    embryonal rhabdomyosarcoma
    sarcoglycanopathies    subependymal giant cell astrocytoma    miyoshi myopathy    walker-warburg syndrome
    muscular dystrophy    muscle eye brain disease    congenital muscular dystrophy    dilated cardiomyopathy
    myocarditis    myopathy    hypertrophic cardiomyopathy    rhabdomyosarcoma
    myotonic dystrophy    astrocytoma    brain disease    mental retardation

    2 diseases from the University of Copenhagen DISEASES database for SGCA:
    Myopathy     Neuropathy

    SGCA for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for SGCA gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muscular dystrophies 92 69 7898714 (4), 7668821 (4), 8981302 (3), 8040315 (3) (see all 41)
    lgmd2e 90.1 5 9266733 (1), 15316618 (1), 9192266 (1)
    muscular dystrophy limb-girdle 89.7 9 7781237 (2), 15736300 (1), 8795845 (1), 18525034 (1) (see all 7)
    lgmd2f 87.7 5 9266733 (1), 15316618 (1), 9192266 (1)
    muscular dystrophy, limb-girdle, autosomal recessive 86.7 2 9259292 (1), 18578595 (1)
    limb girdle 84.1 3 11303236 (1), 9475163 (1), 16002556 (1)
    lgmd2b 77.8 2 15316618 (1)
    muscular dystrophy duchenne 75.8 5 8226900 (1), 7657792 (1), 1461282 (1), 7783429 (1) (see all 5)
    walker-warburg syndrome 75.3 3 7501167 (2), 9845296 (1)
    cardiomyopathy, dilated, x-linked 75.2 1 9891591 (1)


    Export disorders for SGCA 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 SGCA gene, integrated from 10 sources (see all 122):
    (articles sorted by number of sources associating them with SGCA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human adhalin is alternatively spliced and the gene is on chromosome 17q21. (PubMed id 7937874)1, 2, 3, 9 McNally E.... Kunkel L.M. (Proc. Natl. Acad. Sci. U.S.A. 1994)
    2. Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency. (PubMed id 7657792)1, 2, 9 Kawai H.... Saito S. (J. Clin. Invest. 1995)
    3. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. (PubMed id 7663524)1, 2, 9 Piccolo F.... Kaplan J.-C. (Nat. Genet. 1995)
    4. A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy. (PubMed id 8528203)1, 2, 9 Bueno M.R.P.... Zatz M. (Hum. Mol. Genet. 1995)
    5. Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). (PubMed id 9192266)1, 2, 9 Carrie A.... Jeanpierre M. (J. Med. Genet. 1997)
    6. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. (PubMed id 8069911)1, 2, 9 Roberds S.L.... Campbell K.P. (Cell 1994)
    7. 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)
    8. Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient. (PubMed id 9585331)1, 2 Angelini C....Hoffman E.P. (Muscle Nerve 1998)
    9. Mutations in the sarcoglycan genes in patients with myopathy. (PubMed id 9032047)1, 2 Duggan D.J.... Angelini C. (N. Engl. J. Med. 1997)
    10. Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin). (PubMed id 8226900)1, 9 Roberds S.L....Campbell K.P. (J. Biol. Chem. 1993)

    (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)
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    Entrez Gene: 6442 HGNC: 10805 AceView: SGCA Ensembl:ENSG00000108823 euGenes: HUgn6442
    ECgene: SGCA Kegg: 6442 H-InvDB: SGCA

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

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

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



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