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SGCB Gene

protein-coding   GIFtS: 58
GCID: GC04M052886

Sarcoglycan, Beta (43kDa Dystrophin-Associated Glycoprotein)

(Previous names: sarcoglycan, beta (43kD dystrophin-associated glycoprotein))
(Previous symbol: LGMD2E)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sarcoglycan, Beta (43kDa Dystrophin-Associated Glycoprotein)1 2     SGC2
LGMD2E1 2 5     beta-SG2
43 KDa Dystrophin-Associated Glycoprotein2 3     beta-sarcoglycan2
43DAG2 3     Beta-Sarcoglycan(43kD Dystrophin-Associated Glycoprotein)2
A3b2 3     Limb Girdle Muscular Dystrophy 2E (Non-Linked Families)2
Sarcoglycan, Beta (43kD Dystrophin-Associated Glycoprotein)1     Beta-SG3

External Ids:    HGNC: 108061   Entrez Gene: 64432   Ensembl: ENSG000001630697   OMIM: 6009005   UniProtKB: Q165853   

Export aliases for SGCB gene to outside databases

Previous GC identifers: GC04M052710 GC04M052869 GC04M052739 GC04M052805 GC04M052730 GC04M052581 GC04M048828


(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 SGCB Gene:
This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the
dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton
to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular
dystrophy.(provided by RefSeq, Oct 2008)

GeneCards Summary for SGCB Gene:
SGCB (sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)) is a protein-coding gene. Diseases associated with SGCB include limb-girdle muscular dystrophy type 2e, and sarcoglycanopathies.

UniProtKB/Swiss-Prot: SGCB_HUMAN, Q16585
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 SGCB 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_000004.12  NT_022853.16  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SGCB gene promoter:
         CREB   p53   AP-1   deltaCREB   ATF-2   c-Jun   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSGCB promoter sequence
   Search Chromatin IP Primers for SGCB

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


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

Entrez Gene cytogenetic band: 4q12   Ensembl cytogenetic band:  4q12   HGNC cytogenetic band: 4q12

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M052886:  view genomic region     (about GC identifiers)

Start:
52,886,861 bp from pter      End:
52,904,648 bp from pter
Size:
17,788 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SGCB_HUMAN, Q16585 (See protein sequence)
Recommended Name: Beta-sarcoglycan  
Size: 318 amino acids; 34777 Da
Subunit: 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: O00661

Explore the universe of human proteins at neXtProt for SGCB: NX_Q16585

Explore proteomics data for SGCB at MOPED

Post-translational modifications: 

  • Disulfide bonds are present (By similarity)1
  • Ubiquitination2 at Lys111
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_000223.1  
    ENSEMBL proteins: 
     ENSP00000370839   ENSP00000421235   ENSP00000425818   ENSP00000441199  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR006875 Sarcoglycan
     IPR027659 Sgcb

    Graphical View of Domain Structure for InterPro Entry Q16585

    ProtoNet protein and cluster: Q16585

    1 Blocks protein domain: IPB006875 Sarcoglycan complex subunit protein

    UniProtKB/Swiss-Prot: SGCB_HUMAN, Q16585
    Similarity: Belongs to the sarcoglycan beta/delta/gamma/zeta family


    SGCB 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: SGCB_HUMAN, Q16585
    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 SGCB:
    sarcoglycan beta,dystrophin associated glycoprotein A3b (43kDa),associating with other sarcoglycans in a
    stoichiometrically equal complex,expressed in skeletal and cardiac muscle

    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sgcb):
     cardiovascular system  growth/size/body  immune system  muscle 

    SGCB for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SGCB: Sgcbtm1Kcam Sgcbtm1Oza

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SGCB
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    miRTarBase miRNAs that target SGCB:
    hsa-mir-215-5p (MIRT024317), hsa-mir-192-5p (MIRT026183), hsa-mir-590-3p (MIRT016183), hsa-mir-21-5p (MIRT030684)

    Block miRNA regulation of human, mouse, rat SGCB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SGCB (see all 33):
    hsa-miR-3607-3p hsa-miR-3664-5p hsa-miR-29a hsa-miR-30d hsa-miR-3921 hsa-miR-3171 hsa-miR-30a hsa-miR-520g
    SwitchGear 3'UTR luciferase reporter plasmidSGCB 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SGCB


    (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
    SGCB_HUMAN, Q16585: Cell membrane, sarcolemma; Single-pass type II membrane protein (By similarity). Cytoplasm,
    cytoskeleton (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton2
    cytosol1
    extracellular1
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0005887integral component of plasma membrane TAS7581448
    GO:0016010dystrophin-associated glycoprotein complex IDA17993586
    GO:0016012sarcoglycan complex IEA--

    SGCB 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 SGCB 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 SGCB
        Arrhythmogenic right ventricular cardiomyopathy


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


    SGCB for pathways           About GeneDecksing

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

        GeneGlobe Interaction Network for SGCB

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

    Selected Interacting proteins for SGCB (Q165853 ENSP000003708394) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SGCAQ165863, ENSP000002620184I2D: score=3 STRING: ENSP00000262018
    SGCDQ926293, ENSP000003383434I2D: score=3 STRING: ENSP00000338343
    SGCGQ133263, ENSP000002188674I2D: score=3 STRING: ENSP00000218867
    SGCZQ96LD13, ENSP000003715124I2D: score=1 STRING: ENSP00000371512
    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:0007517muscle organ development IEA--
    GO:0035051cardiocyte differentiation IEA--

    SGCB 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 SGCB

    Selected Novoseek inferred chemical compound relationships for SGCB gene (see all 84)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanylate 94.3 239 16410224 (2), 19174191 (2), 19527054 (2), 15942806 (2) (see all 99)
    cgmp 91.7 382 18180373 (6), 12436434 (6), 10717006 (6), 11952092 (5) (see all 99)
    3-(5'-hydroxymethyl-2'-furyl)-1-benzylindazole 88.4 9 16326101 (1), 17580137 (1), 18180373 (1), 18923065 (1) (see all 9)
    1h-[1,2,4]oxadiazolo[4,3-a]quinoxalin-1-one 84.9 42 17895915 (2), 18695639 (2), 10235672 (1), 16288207 (1) (see all 17)
    nitric oxide 84.5 763 11952092 (9), 11325714 (7), 20007374 (6), 11073946 (6) (see all 99)
    8-bromo cgmp 75.8 9 19570894 (1), 16033898 (1), 18923065 (1), 10438163 (1) (see all 7)
    kt 5823 70.8 5 16027232 (1), 15588715 (1), 14614039 (1), 17466390 (1) (see all 5)
    ptio 70.3 2 17280661 (1), 9459444 (1)
    sodium nitroprusside 68.2 39 8890925 (2), 17050951 (2), 11876648 (2), 17784643 (2) (see all 20)
    mggtp 67.8 1 11876648 (1)



    SGCB 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SGCB gene: 
    NM_000232.4  

    Unigene Cluster for SGCB:

    Sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
    Hs.438953  [show with all ESTs]
    Unigene Representative Sequence: NM_000232
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000381431(uc003gzj.2 uc011bzp.1) ENST00000506357 ENST00000514133
    ENST00000535450
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Block miRNA regulation of human, mouse, rat SGCB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SGCB (see all 33):
    hsa-miR-3607-3p hsa-miR-3664-5p hsa-miR-29a hsa-miR-30d hsa-miR-3921 hsa-miR-3171 hsa-miR-30a hsa-miR-520g
    SwitchGear 3'UTR luciferase reporter plasmidSGCB 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK094731.1 AK289892.1 AK299765.1 BC020709.1 BC048972.1 BT019433.1 CR456810.1 U29586.1 

    7 DOTS entries:

    DT.314740  DT.100877415  DT.86837442  DT.95158023  DT.95368194  DT.91661328  DT.99934176 

    Selected AceView cDNA sequences (see all 239):

    AA256276 BU617571 AA953533 BM802299 BQ009976 AI418188 F10000 AI089854 
    AA252220 CA426116 AI079375 BU161227 AU280583 BQ009909 CA422095 AA242935 
    CR590718 BM555886 BX499666 H78818 CD516303 Z39315 H80194 AI150923 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SGCB    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b
    SP1:                    -     -                                       
    SP2:              -     -     -                                       
    SP3:                          -                                       
    SP4:                                                                  


    ECgene alternative splicing isoforms for SGCB

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


    SGCB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Mature follicles
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Skeletal Muscle (Muscoskeletal System)
    SGCB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SGCB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.438953

    UniProtKB/Swiss-Prot: SGCB_HUMAN, Q16585
    Tissue specificity: Highest expression in heart and skeletal muscle. Low expression in brain, kidney, placenta,
    pancreas and lung. High expression in fetal brain. Also found in fetal lung, kidney and liver

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SGCB

    (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 SGCB gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sgcb1 , 5 sarcoglycan, beta (dystrophin-associated glycoprotein) less1, 5 84.36(n)1
    95.47(a)1
      5 (38.89 cM)5
    240511  NM_011890.41  NP_036020.11 
     736327495 
    chicken
    (Gallus gallus)
    Aves SGCB1 sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) less 79.65(n)
    90.58(a)
      422760  NM_001031155.1  NP_001026326.1 
    lizard
    (Anolis carolinensis)
    Reptilia SGCB6
    sarcoglycan, beta (43kDa dystrophin-associated gly...
    83(a)
    1 ↔ 1
    GL343293.1(1206198-1233501)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.251212 Xenopus laevis transcribed sequence with moderate similarity to protein spQ16585 (H.sapiens) SGCB_HUMAN Beta-sarcoglycan (Beta-SG) (43 kDa dystrophin-associated glycoprotein) (43DAG) (A3b) less 79.74(n)    CB206117.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sgcb1 sarcoglycan, beta (dystrophin-associated glycoprotein) less 67.85(n)
    75.4(a)
      559788  NM_001034973.1  NP_001030145.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Scgbeta6
    Sarcoglycan beta
    21(a)
    1 ↔ 1
    3R(8246958-8248151)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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)
    About This Section

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    Selected SNPs for SGCB (see all 421)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289363831,2,,4
    CLimb-girdle muscular dystrophy 2E (LGMD2E)4 pathogenic152795529(-) GACAAC/GAAAGC 2 T R mis1 ese30--------
    rs289363841,2,4
    Limb-girdle muscular dystrophy 2E (LGMD2E)4--see VAR_0103922 mis40--------
    VAR_0104244
    Limb-girdle muscular dystrophy 2E (LGMD2E)4--see VAR_0104242 I F mis40--------
    VAR_0104264
    Limb-girdle muscular dystrophy 2E (LGMD2E)4--see VAR_0104262 G S mis40--------
    VAR_0103914
    Limb-girdle muscular dystrophy 2E (LGMD2E)4--see VAR_0103912 R L mis40--------
    rs289363861,2,4
    Limb-girdle muscular dystrophy 2E (LGMD2E)4--see VAR_0103932 mis40--------
    VAR_0104224
    Limb-girdle muscular dystrophy 2E (LGMD2E)4--see VAR_0104222 R C mis40--------
    VAR_0103944
    Limb-girdle muscular dystrophy 2E (LGMD2E)4--see VAR_0103942 L R mis40--------
    rs1048938681,2
    Cpathogenic152795429(-) GACTAG/TGAAAC 2 * Y stg10--------
    rs1048938701,2
    Cpathogenic152796414(-) CCTGCG/TTCGAT 2 R L mis10--------

    HapMap Linkage Disequilibrium report for SGCB (52886861 - 52904648 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SGCB:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2522522CNV Deletion19546169
    nsv829932CNV Gain17160897
    nsv829933CNV Gain17160897
    nsv879011CNV Gain21882294

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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SGCB
    DNA2.0 Custom Variant and Variant Library Synthesis for SGCB

    (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.)
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    OMIM gene information: 600900   
    OMIM disorders: 604286  
    UniProtKB/Swiss-Prot: SGCB_HUMAN, Q16585
  • Limb-girdle muscular dystrophy 2E (LGMD2E) [MIM:604286]: An autosomal recessive degenerative myopathy
    characterized by pelvic and shoulder muscle wasting, onset usually in childhood and variable progression rate.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for SGCB (see all 43):    
    About MalaCards
    limb-girdle muscular dystrophy type 2e    sarcoglycanopathies    beta-sarcoglycanopathy    limb-girdle muscular dystrophy, type 2b
    limb-girdle muscular dystrophy    hepatic encephalopathy    muscular dystrophy    tetanus
    neuromuscular disease    duchenne muscular dystrophy    myocarditis    vascular disease
    stomach cancer    hypertrophic cardiomyopathy    bladder carcinoma    hypertension
    hyperparathyroidism    dilated cardiomyopathy    cataract    liver disease

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

    SGCB for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for SGCB gene (see all 24)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lgmd2e 80.3 4 9266733 (1), 15316618 (1), 15938573 (1)
    lgmd2f 76.6 4 9266733 (1), 15316618 (1), 17265058 (1)
    lgmd2a 55.4 3 9266733 (1), 15316618 (1)
    muscular dystrophies 55.2 5 7898714 (2), 7581449 (1), 8012191 (1), 9521867 (1)
    lgmd2b 52.8 1 15316618 (1)
    hyperammonemia 33.9 11 15664700 (3), 12395325 (1), 15312989 (1)
    hypertension pulmonary 30.3 2 19089334 (2), 17872487 (2), 19263460 (1), 19592462 (1) (see all 5)
    hypertension arterial 27.8 1 18550612 (1)
    cardiovascular diseases 21.6 6 17445086 (2), 17192504 (1), 11815368 (1), 19592462 (1) (see all 5)
    preterm delivery 20.9 3 17716742 (2), 12530687 (1)


    Export disorders for SGCB 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 SGCB gene, integrated from 10 sources (see all 397):
    (articles sorted by number of sources associating them with SGCB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). (PubMed id 8968749)1, 2, 3 Bonnemann C.G.... Kunkel L.M. (Hum. Mol. Genet. 1996)
    2. Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. (PubMed id 7581449)1, 2, 9 Boennemann C.G.... Kunkel L.M. (Nat. Genet. 1995)
    3. 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)
    4. Novel mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient. (PubMed id 10660328)1, 2 dos Santos M.R.... Guimaraes A. (Hum. Mutat. 1998)
    5. Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate. (PubMed id 9565988)1, 2 Duclos F.... Campbell K.P. (Neuromuscul. Disord. 1998)
    6. LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3. (PubMed id 9631401)1, 2 Bonnemann C.G....Kunkel L.M. (Neuromuscul. Disord. 1998)
    7. Mutations in the sarcoglycan genes in patients with myopathy. (PubMed id 9032047)1, 2 Duggan D.J.... Angelini C. (N. Engl. J. Med. 1997)
    8. Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. (PubMed id 7581448)1, 2 Lim L.E.... Campbell K.P. (Nat. Genet. 1995)
    9. Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development. (PubMed id 9521867)1, 9 Fougerousse F....Beckmann J.S. (Genomics 1998)
    10. Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis. (PubMed id 15954112)1, 9 White S.J....den Dunnen J.T. (Hum. Mutat. 2005)

    (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: 6443 HGNC: 10806 AceView: SGCB Ensembl:ENSG00000163069 euGenes: HUgn6443
    ECgene: SGCB Kegg: 6443 H-InvDB: SGCB

    (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 SGCB Pharmacogenomics, SNPs, Pathways
    LEIDEN Muscular Dystrophy page for SGCB Scientfic Information about Duchenne and Duchenne-like muscular dystrophies.
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SGCB[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 SGCB gene:
    Search GeneIP for patents involving SGCB

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



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