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

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

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 sarcoglycanopathies, and limb-girdle muscular dystrophy, type 2d, and among its related super-pathways are Hypertrophic cardiomyopathy (HCM) and Allograft rejection. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the 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 SABiosciences Chromatin IP Primers for SGCA

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

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q16586

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

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

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

    Human Recombinant Protein Products for SGCA: 
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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. 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (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



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    LSBio Antibodies in human, mouse, rat for SGCA 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR006644 Cadg
     IPR008908 Sarcoglycan_2
     IPR015919 Cadherin-like
     IPR013783 Ig-like_fold

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

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    Inhib. RNA
    Products:
        
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    Sino Biological Human cDNA Clone for SGCA
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                         Customized lentivirus expression plasmids for stable overexpression of SGCA 

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


    (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 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 cardiomyopathy0.53
    2Allograft rejection
    Viral myocarditis0.35

    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

    Interactions:

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

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

    5/21 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
    SGCBQ165853, ENSP000003708394I2D: score=3 STRING: ENSP00000370839
    DAG1Q141183, ENSP000003124354I2D: score=1 STRING: ENSP00000312435
    DMDP115323, ENSP000003549234I2D: score=1 STRING: ENSP00000354923
    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:0006936muscle contraction TAS8069911
    GO:0007517muscle organ development TAS7663524

    SGCA 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

    SGCA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about SGCA

    (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 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)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate SGCA
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    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
    Sirion Biotech Customized lentivirus for stable overexpression of SGCA 
                         Customized lentivirus expression plasmids for stable overexpression of SGCA 
    Primer
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    OriGene qPCR primer pairs and template standards for SGCA
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      QIAGEN 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 

    24/61 AceView cDNA sequences (see all 61):

    NM_000023 AU139735 BC025702 U08895 AA424162 BQ183336 BU620452 AA993577 
    AJ572792 AA424260 BG826080 AA835076 BQ181954 AA461125 BM554431 BM996755 
    L35853 BP372240 BM688884 BM708938 F36677 BM673494 AA040040 L34355 

    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™, 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

    SGCA expression in normal human tissues (normalized intensities)      SGCA embryonic expression: see
    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 
     5/16 selected tissues (see all 16) fully expand
     
     Epithelium (Reproductive System)    fully expand to see all 4 entries
             vagina ; squamous epithelial cells   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             skeletal muscle ; myocytes   
             vastus lateralis   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Juxtaglomerular Cells Afferent Arteriole
             kidney ; cells in tubules   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex

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

    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

        SABiosciences Expression via Pathway-Focused PCR Array including SGCA: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SGCA gene from 5/11 species (see all 11)    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_009161.31  NP_033187.11 
     949627915 
    chicken
    (Gallus gallus)
    Aves SGCA6
    sarcoglycan, alpha (50kDa dystrophin-associated gl...
    39(a)
    1 ↔ 1
    JH375682.1(21-1479)
    lizard
    (Anolis carolinensis)
    Reptilia SGCA6
    Uncharacterized protein
    52(a)
    1 ↔ 1
    6(77499836-77515116)
    zebrafish
    (Danio rerio)
    Actinopterygii im:71651461 im:7165146 51.92(n)
    43.94(a)
      557170  XM_680178.3  XP_685270.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Scgalpha6
    Sarcoglycan alpha
    17(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)
    About This Section
    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) 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

    10/372 SNPs in SGCA are shown (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
    ----------
    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--------
    VAR_0104124
    Limb-girdle muscular dystrophy 2D (LGMD2D)4--see VAR_0104122 D G mis40--------
    VAR_0104334
    Limb-girdle muscular dystrophy 2D (LGMD2D)4--see VAR_0104332 V M 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
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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
    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

  • 20/22 diseases for SGCA (see all 22):    About MalaCards
    sarcoglycanopathies    limb-girdle muscular dystrophy, type 2d    mcleod syndrome    embryonal rhabdomyosarcoma
    limb-girdle muscular dystrophy    walker-warburg syndrome    subependymal giant cell astrocytoma    miyoshi myopathy
    muscular dystrophy    congenital muscular dystrophy    dilated cardiomyopathy    myotonic dystrophy
    myopathy    rhabdomyosarcoma    astrocytoma    myocarditis
    hypertrophic cardiomyopathy    neuropathy    mental retardation    prostate cancer

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

    SGCA for disorders           About GeneDecksing

    10/15 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)
    About This Section

    PubMed articles for SGCA gene, integrated from 9 sources (see all 120):
    (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. (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....Shin S. (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. (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. (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. (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. (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. (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. (1998)
    9. Mutations in the sarcoglycan genes in patients with myopathy. (PubMed id 9032047)1, 2 Duggan D.J.... Angelini C. (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. (1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6442 HGNC: 10805 AceView: SGCA Ensembl:ENSG00000108823 euGenes: HUgn6442
    ECgene: SGCA Kegg: 6442 H-InvDB: SGCA

    (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 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/sites/GeneTests/lab/gene/SGCA

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