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

SGCB Gene

protein-coding   GIFtS: 55
GCID: GC04M052886

sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)

(Previous names: sarcoglycan, beta (43kD dystrophin-associated glycoprotein)...)
(Previous symbol: LGMD2E)
 Explore 36 diseases affiliated with
SGCB via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SGCB    

Aliases
for SGCB gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Sarcoglycan, Beta (43kDa Dystrophin-Associated Glycoprotein)1 2     Sarcoglycan, Beta (43kD Dystrophin-Associated Glycoprotein)1
A3b1 2 3     Beta-SG3
LGMD2E1 2 5     Beta-Sarcoglycan1
SGC1 2     Beta-Sarcoglycan(43kD Dystrophin-Associated Glycoprotein)2
43 KDa Dystrophin-Associated Glycoprotein2 3     Limb Girdle Muscular Dystrophy 2E (Non-Linked Families)2
43DAG2 3     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


Summaries
for SGCB 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 SGCB:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_022853.15  
Regulatory elements:
   SABiosciences 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 plasmid: SGCB promoter sequence
   Search SABiosciences Chromatin IP Primers for SGCB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for SGCB 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: 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)
Subcellular location: Cell membrane, sarcolemma; Single-pass type II membrane protein (By similarity). Cytoplasm,
cytoskeleton (By similarity)
Secondary accessions: O00661

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

Post-translational modifications:

  • Disulfide bonds are present (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q16585

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

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

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    Novus Biologicals SGCB Lysate
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

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


    SGCB for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for SGCB gene

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

    1 InterPro domain/family:
     IPR006875 Sarcoglycan

    Graphical View of Domain Structure for InterPro Entry Q16585

    ProtoNet protein and cluster: Q16585

    1 Blocks protein family: IPB006875 Sarcoglycan complex subunit protein

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


    Function
    for SGCB 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: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SGCB
    8/33 QIAGEN miScript miRNA 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 plasmid: SGCB 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SGCB (see all 4)
    OriGene shRNA RFP: SGCB
    OriGene siRNA: SGCB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SGCB

    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SGCB 

    Cell Line
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    Search LifeMap BioReagents cell lines for SGCB

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

    Animal Models:
         Mouse knock-outs for SGCB: Sgcbtm1Kcam Sgcbtm1Oza
         4 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Sgcb):
     cardiovascular system  growth/size  immune system  muscle 

    SGCB for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SGCB 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 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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SGCB

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

    5/20 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
    SGCZQ96LD13, ENSP000003715124I2D: score=1 STRING: ENSP00000371512
    SGCGQ133263, ENSP000002188674I2D: score=3 STRING: ENSP00000218867
    DMDP115323, ENSP000003549234I2D: score=1 STRING: ENSP00000354923
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007010cytoskeleton organization IEA--
    GO:0007517muscle organ development TAS8968749
    GO:0035051cardiocyte differentiation IEA--


    SGCB for ontologies           About GeneDecksing



    Drugs & Compounds
    for SGCB 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

    SGCB for compounds           About GeneDecksing

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

    Browse Tocris compounds for SGCB
    10/84 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about SGCB 

    Transcripts
    for SGCB 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 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

    miRNA
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    8/33 QIAGEN miScript miRNA 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 plasmid: SGCB 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SGCB (see all 4)
    OriGene shRNA RFP: SGCB
    OriGene siRNA: SGCB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SGCB
    Clone
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    Primer
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    Additional cDNA 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 

    24/239 AceView cDNA sequences (see all 239):

    BM770348 AI363094 AA479743 BQ028249 CF242807 H78818 BM723159 F10000 
    BM555886 BC020709 BM802299 CD516303 BQ219230 AA256816 BX499666 AK094731 
    CA421512 AA256276 AI418188 AI079375 AA953533 F12381 BU622637 AA256900 

    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

    Expression
    for SGCB 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

    SGCB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    SGCB expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    BrainMedulla OblongataBrain
    Neural TubeMetencephalonNeural Tube
    Spinal CordSpinal Ventral ColumnsSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Mature follicles (In-vitro growth and ...)

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

    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:     
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    Orthologs
    for SGCB 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 SGCB gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Sgcb1 , 5 sarcoglycan, beta (dystrophin-associated glycoprotein)1, 5 84.23(n)1
    95.27(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) 79.65(n)
    90.58(a)    		   422760  NM_001031155.1  NP_001026326.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SGCB6
    		 --
    		 83(a)
    		 1 ↔ 1
    		 GL343293.1(1209257-1222931)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.251212 Xenopus laevis transcribed sequence with moderate similarity more 79.74(n)    CB206117.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii sgcb1 sarcoglycan, beta (dystrophin-associated glycoprotein) 67.74(n)
    75.24(a)    		   559788  NM_001034973.1  NP_001030145.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Scgbeta6
    		 Sarcoglycan beta
    		 23(a)
    		 1 ↔ 1
    		 3R(8246958-8248151)
    worm
    (Caenorhabditis elegans)    		 Secernentea sgcb-16
    		 SarcoGlyCan Beta homolog family member (sgcb-1)
    		 23(a)
    		 1 ↔ 1
    		 II(326290-328225)


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

    Paralogs
    for SGCB gene

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

    Genomic Variants
    for SGCB 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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for SGCB
         3 CNVs: 98709 80297 4395
    Human Gene Mutation Database (HGMD): SGCB

    Locus Specific Mutation Databases (LSDB): SGCB
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SGCB
    DNA2.0 Custom Variant and Variant Library Synthesis for SGCB

    Disorders / Diseases
    for SGCB 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
    SGCB for disorders           About GeneDecksing

    OMIM gene information: 600900   
    OMIM disorders: 604286  
    UniProtKB/Swiss-Prot: SGCB_HUMAN, Q16585
  • Defects in SGCB are the cause of limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286]. LGMD2E is an
    • autosomal recessive disorder

    20/36 diseases for SGCB (see all 36):    About MalaCards
    limb-girdle muscular dystrophy    muscular dystrophy    limb-girdle muscular dystrophy type 2e    duchenne muscular dystrophy
    hepatic encephalopathy    sarcoglycanopathies    tetanus    neuromuscular disease
    hyperlipidemia    myocardial infarction    liver disease    renal cell carcinoma
    squamous cell carcinoma    cardiomyopathy    stomach cancer    pulmonary hypertension
    hypertension    bladder carcinoma    hyperparathyroidism    cataract

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

    10/24 Novoseek 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

    Publications
    for SGCB 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 SGCB gene, integrated from 9 sources (see all 396):
    (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. (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. (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. (2004)
    4. Noval 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. (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. (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. (1998)
    7. Mutations in the sarcoglycan genes in patients with myopathy. (PubMed id 9032047)1, 2 Duggan D.J.... Angelini C. (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. (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. (1998)
    10. Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis. (PubMed id 15954112)1, 9 White S.J....den Dunnen J.T. (2005)

    External Searches for SGCB gene

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6443 HGNC: 10806 AceView: SGCB Ensembl:ENSG00000163069 euGenes: HUgn6443
    ECgene: SGCB Kegg: 6443 H-InvDB: SGCB

    Other Databases showing SGCB gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SGCB 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 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/sites/GeneTests/lab/gene/SGCB

    Intellectual Property
    for SGCB gene

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

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