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

SGCA Gene

protein-coding   GIFtS: 59
GCID: GC17P048243

sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)

(Previous names: sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)...)
(Previous symbol: ADL)
 Explore 23 diseases affiliated with
SGCA via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SGCA    

Aliases
for SGCA gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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
DMDA21 2 5     50kD DAG2
LGMD2D1 2 5     Alpha-SG3
DAG22 3 5     Alpha-Sarcoglycan1
A21 2     Dystroglycan-23
SCARMD11 2     Adhalin3
Adhalin3     Alpha-SG3
50 KDa Dystrophin-Associated Glycoprotein2 3     Dystroglycan-23
50DAG2 3     

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


Summaries
for SGCA gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
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 plasmid: SGCA 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

Proteins
for SGCA gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q16586

    • SGCA Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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

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    OriGene Protein Over-expression Lysate: SGCA
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    Novus Biologicals SGCA Proteins
    Novus Biologicals SGCA Lysate
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    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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    Protein Domains /
    Families
    for SGCA gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SGCA for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    IPB006644 Dystroglycan-type cadherin-like domain
    IPB008908 Sarcoglycan alphaepsilon


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


    Function
    for SGCA gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SGCA
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    SwitchGear 3'UTR luciferase reporter plasmid: SGCA 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SGCA (see all 7)
    OriGene shRNA RFP: SGCA
    OriGene siRNA: SGCA
    QIAGEN FlexiTube/FlexiPlate 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 Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SGCA (see all 5)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SGCA 

    Cell Line
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    Search LifeMap BioReagents cell lines for SGCA

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

    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


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

    Animal Models:
         Mouse knock-out Sgcatm1Kcam for SGCA
         4 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Sgca):
     cardiovascular system  homeostasis/metabolism  immune system  muscle 

    SGCA for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SGCA gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    		Arrhythmogenic right ventricular cardiomyopathy (ARVC)1.00
    		Arrhythmogenic right ventricular cardiomyopathy0.99
    2Hypertrophic cardiomyopathy (HCM)
    		Hypertrophic cardiomyopathy (HCM)1.00
    		Dilated cardiomyopathy0.75
    3Allograft rejection
    		Viral myocarditis0.33

    Pathway sources
    See GeneCards unified pathways
    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



    Drugs & Compounds
    for SGCA gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for SGCA gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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)

    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SGCA
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    SwitchGear 3'UTR luciferase reporter plasmid: SGCA 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SGCA (see all 7)
    OriGene shRNA RFP: SGCA
    OriGene siRNA: SGCA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SGCA
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): SGCA (NM_000023)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SGCA 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SGCA
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SGCA
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SGCA

    Additional cDNA 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):

    BC025702 AU139735 U08895 NM_000023 BP372240 BQ183336 F36677 BM673494 
    L34355 AA040040 AA461125 BM554431 BQ181954 AW016935 AA835076 AA424260 
    BM688884 AI479385 BM708938 AI097272 BI838308 BX112244 BG826080 AA993577 

    GeneLoc Exon Structure


    Expression
    for SGCA gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCAATGTGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SGCA expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyAfferent ArterioleJuxtaglomerular CellsKidney, Smooth Muscle
    Skeletal MuscleHyoid Arch MusclesMononuclear MyocytesSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMononuclear MyocytesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)
    PureStem™ progenitor SK17 (Embryonic Progenitor Cell)
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

    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

    Primer
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    QIAGEN 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
    for SGCA gene

    (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 4/14 species (see all 14)    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 
    lizard
    (Anolis carolinensis)    		 Reptilia SGCA6
    		 --
    		 53(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
    		 18(a)
    		 1 → many
    		 2L(8303429-8305376)


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

    Paralogs
    for SGCA gene

    (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



    Genomic Variants
    for SGCA gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/273 NCBI SNPs in SGCA are shown (see all 273)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs289336931,2
    		C,F,pathogenic48245014(+) GGCTCC/TGCTAC 4 R C mis1 ese34Minor allele frequency- T:0.00NA EU 5527
    rs1378526231,2
    		C,pathogenic48247606(+) CAGACC/G/TGTGAC 4 R G C int1 mis10--------
    rs1477232671,2
    		--48241566(+) CCTCCC/TTCCCT 2 -- us2k10--------
    rs1509341531,2
    		--48241690(+) AGGTG-/GAGAGAG 2 -- us2k10--------
    rs1911628241,2
    		--48241724(+) CGTAAA/C/TCTGCC 2 -- us2k10--------
    rs1847166031,2
    		--48241727(+) AACCTA/GCCTAC 2 -- us2k10--------
    rs25864711,2
    		C,F,O,A,H,--48241732(+) GCCTAC/TCAGTC 2 -- us2k128Minor allele frequency- T:0.43NA NS EA WA 3092
    rs1491870681,2
    		--48241849(+) ACCAAA/GGATTT 2 -- us2k10--------
    rs728406431,2
    		C,F,--48241881(+) TCCCCG/ACCCCC 2 -- us2k12Minor allele frequency- A:0.14NA EA 240
    rs1433150021,2
    		--48242053(+) TGAGCC/GAGGCA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SGCA (48241575 - 48253293 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SGCA
         1 CNV: 88525
    Human Gene Mutation Database (HGMD): SGCA

    Locus Specific Mutation Databases (LSDB): SGCA

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SGCA
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    Disorders / Diseases
    for SGCA gene

    (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.)
    About This Section
    SGCA for disorders           About GeneDecksing

    OMIM gene information: 600119   
    OMIM disorders: 608099  
    UniProtKB/Swiss-Prot: SGCA_HUMAN, Q16586
  • Defects in SGCA are the cause of limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]; also known as
    • Duchenne-like muscular dystrophy autosomal recessive type 2 or severe childhood autosomal recessive muscular dystrophy
    (SCARMD). LGMD2D is 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. The phenotype is less severe than LGMD2C

    20/23 diseases for SGCA (see all 23):    About MalaCards
    limb-girdle muscular dystrophy    muscular dystrophy    walker-warburg syndrome    adhalinopathy
    adhalinopathy, primary    subependymal giant cell astrocytoma    sarcoglycanopathies    miyoshi myopathy
    dilated cardiomyopathy    congenital muscular dystrophy    mcleod syndrome    myotonic dystrophy
    embryonal rhabdomyosarcoma    cardiomyopathy    hearing loss    myopathy
    rhabdomyosarcoma    astrocytoma    prostate cancer    prostatitis

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

    10/15 Novoseek 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

    Publications
    for SGCA gene

    (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)

    External Searches for SGCA gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing SGCA gene

    (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

    Other Databases showing SGCA gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SGCA gene

    (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

    Intellectual Property
    for SGCA gene

    (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:
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