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Aliases for SGCB Gene

Aliases for SGCB Gene

  • Sarcoglycan, Beta (43kDa Dystrophin-Associated Glycoprotein) 2 3
  • 43 KDa Dystrophin-Associated Glycoprotein 3 4
  • Beta-SG 3 4
  • 43DAG 3 4
  • A3B 3 4
  • Sarcoglycan, Beta (43kD Dystrophin-Associated Glycoprotein) 2
  • Beta-Sarcoglycan(43kD Dystrophin-Associated Glycoprotein) 3
  • Limb Girdle Muscular Dystrophy 2E (Non-Linked Families) 3
  • LGMD2E 3
  • SGC 3

External Ids for SGCB Gene

Previous HGNC Symbols for SGCB Gene

  • LGMD2E

Previous GeneCards Identifiers for SGCB Gene

  • GC04M052710
  • GC04M052869
  • GC04M052739
  • GC04M052805
  • GC04M052730
  • GC04M052581
  • GC04M052886
  • GC04M048828

Summaries for SGCB Gene

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 beta-sarcoglycanopathy and calpainopathy. Among its related pathways are Hypertrophic cardiomyopathy (HCM) and Allograft rejection.

UniProtKB/Swiss-Prot for SGCB Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SGCB Gene

Genomics for SGCB Gene

Regulatory Elements for SGCB Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SGCB Gene

Chromosome:
4
Start:
52,020,695 bp from pter
End:
52,038,482 bp from pter
Size:
17,788 bases
Orientation:
Minus strand

Genomic View for SGCB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SGCB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SGCB Gene

Proteins for SGCB Gene

  • Protein details for SGCB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16585-SGCB_HUMAN
    Recommended name:
    Beta-sarcoglycan
    Protein Accession:
    Q16585
    Secondary Accessions:
    • B7Z635
    • O00661

    Protein attributes for SGCB Gene

    Size:
    318 amino acids
    Molecular mass:
    34777 Da
    Quaternary structure:
    • 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).

    Alternative splice isoforms for SGCB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SGCB Gene

Proteomics data for SGCB Gene at MOPED

Post-translational modifications for SGCB Gene

Other Protein References for SGCB Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SGCB Gene

Domains & Families for SGCB Gene

Protein Domains for SGCB Gene

Graphical View of Domain Structure for InterPro Entry

Q16585

UniProtKB/Swiss-Prot:

SGCB_HUMAN :
  • Belongs to the sarcoglycan beta/delta/gamma/zeta family.
Family:
  • Belongs to the sarcoglycan beta/delta/gamma/zeta family.
genes like me logo Genes that share domains with SGCB: view

No data available for Gene Families for SGCB Gene

Function for SGCB Gene

Molecular function for SGCB Gene

GENATLAS Biochemistry:
sarcoglycan beta,dystrophin associated glycoprotein A3b (43kDa),associating with other sarcoglycans in a stoichiometrically equal complex,expressed in skeletal and cardiac muscle
UniProtKB/Swiss-Prot 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
genes like me logo Genes that share phenotypes with SGCB: view

Animal Models for SGCB Gene

MGI Knock Outs for SGCB:

miRNA for SGCB Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SGCB

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for SGCB Gene

Localization for SGCB Gene

Subcellular locations from UniProtKB/Swiss-Prot for SGCB Gene

Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SGCB Gene COMPARTMENTS Subcellular localization image for SGCB gene
Compartment Confidence
plasma membrane 5
cytoskeleton 3
cytosol 2
mitochondrion 2
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for SGCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005887 integral component of plasma membrane TAS 7581448
GO:0016010 dystrophin-associated glycoprotein complex IDA 17993586
GO:0016011 dystroglycan complex --
genes like me logo Genes that share ontologies with SGCB: view

Pathways & Interactions for SGCB Gene

genes like me logo Genes that share pathways with SGCB: view

Gene Ontology (GO) - Biological Process for SGCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007517 muscle organ development IEA --
GO:0048747 muscle fiber development IEA --
GO:0055013 cardiac muscle cell development IEA --
GO:0097084 vascular smooth muscle cell development IEA --
genes like me logo Genes that share ontologies with SGCB: view

No data available for SIGNOR curated interactions for SGCB Gene

Drugs & Compounds for SGCB Gene

(43) Drugs for SGCB Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbachol Approved Pharma Full agonist, Agonist 3
Dalfampridine Approved Pharma Inhibitor 47
Deferoxamine Approved, Investigational Pharma 44
Glyburide Approved Pharma Inhibition, Inhibitor Kir6 (KATP) channel blocker 100
Iron Approved Pharma 957

(41) Additional Compounds for SGCB Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1H-[1,2,4]Oxadiazolo[4,3-a]quinoxalin-1-one
3-(5-Hydroxymethyl-2-furyl)-1-benzylindazole
8-Bromo cgmp
adenylate
DEET
genes like me logo Genes that share compounds with SGCB: view

Transcripts for SGCB Gene

Unigene Clusters for SGCB Gene

Sarcoglycan, beta (43kDa dystrophin-associated glycoprotein):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SGCB

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SGCB Gene

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

Relevant External Links for SGCB Gene

GeneLoc Exon Structure for
SGCB
ECgene alternative splicing isoforms for
SGCB

Expression for SGCB Gene

mRNA expression in normal human tissues for SGCB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SGCB Gene

This gene is overexpressed in Heart (16.9), Colon (8.3), and Uterus (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SGCB Gene



SOURCE GeneReport for Unigene cluster for SGCB Gene Hs.438953

mRNA Expression by UniProt/SwissProt for SGCB Gene

Q16585-SGCB_HUMAN
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
genes like me logo Genes that share expression patterns with SGCB: view

Protein tissue co-expression partners for SGCB Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for SGCB Gene

Orthologs for SGCB Gene

This gene was present in the common ancestor of animals.

Orthologs for SGCB Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SGCB 35
  • 90.43 (n)
  • 93.87 (a)
SGCB 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SGCB 35
  • 91.91 (n)
  • 97.73 (a)
SGCB 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sgcb 35
  • 84.36 (n)
  • 95.47 (a)
Sgcb 16
Sgcb 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SGCB 35
  • 99.58 (n)
  • 99.68 (a)
SGCB 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sgcb 35
  • 85.44 (n)
  • 94.82 (a)
oppossum
(Monodelphis domestica)
Mammalia SGCB 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SGCB 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves SGCB 35
  • 79.65 (n)
  • 90.58 (a)
SGCB 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SGCB 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sgcb 35
  • 78.62 (n)
  • 85.2 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25121 35
zebrafish
(Danio rerio)
Actinopterygii sgcb 35
  • 67.85 (n)
  • 75.4 (a)
sgcb 36
  • 74 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Scgbeta 36
  • 21 (a)
OneToOne
Species with no ortholog for SGCB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SGCB Gene

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

Paralogs for SGCB Gene

No data available for Paralogs for SGCB Gene

Variants for SGCB Gene

Sequence variations from dbSNP and Humsavar for SGCB Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
VAR_010391 Limb-girdle muscular dystrophy 2E (LGMD2E)
VAR_010392 Limb-girdle muscular dystrophy 2E (LGMD2E)
VAR_010393 Limb-girdle muscular dystrophy 2E (LGMD2E)
VAR_010394 Limb-girdle muscular dystrophy 2E (LGMD2E)
VAR_010395 Limb-girdle muscular dystrophy 2E (LGMD2E)

Structural Variations from Database of Genomic Variants (DGV) for SGCB Gene

Variant ID Type Subtype PubMed ID
nsv829932 CNV Gain 17160897
nsv879011 CNV Gain 21882294
nsv829933 CNV Gain 17160897
esv2522522 CNV Deletion 19546169

Variation tolerance for SGCB Gene

Residual Variation Intolerance Score: 32.31% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.07; 37.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SGCB Gene

HapMap Linkage Disequilibrium report
SGCB
Human Gene Mutation Database (HGMD)
SGCB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SGCB Gene

Disorders for SGCB Gene

MalaCards: The human disease database

(10) MalaCards diseases for SGCB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
beta-sarcoglycanopathy
  • lgmd2
calpainopathy
  • limb-girdle muscular dystrophy type 2a
muscular dystrophy, limb-girdle, type 2e
  • muscular dystrophy, limb-girdle, type 2s
muscular dystrophy, limb-girdle, type 2a
  • calpainopathy
sarcoglycanopathies
- elite association
Search SGCB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SGCB_HUMAN
  • 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. {ECO:0000269 PubMed:8968749, ECO:0000269 PubMed:9565988, ECO:0000269 PubMed:9631401}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SGCB

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SGCB
genes like me logo Genes that share disorders with SGCB: view

No data available for Genatlas for SGCB Gene

Publications for SGCB Gene

  1. Characterization of phosphodiesterase type 5 expression and functional activity in the human male lower urinary tract. (PMID: 19796053) Fibbi B. … Maggi M. (J Sex Med 2010) 23 67
  2. Role of local production of endothelium-derived nitric oxide on cGMP signaling and S-nitrosylation. (PMID: 19855060) Qian J. … Fulton D.J. (Am. J. Physiol. Heart Circ. Physiol. 2010) 23 67
  3. Role of soluble guanylyl cyclase-cyclic GMP signaling in tumor cell proliferation. (PMID: 19948239) Mujoo K. … Murad F. (Nitric Oxide 2010) 23 67
  4. Cyclic guanosine monophosphate dependent pathway contributes to human mast cell inhibitory actions of the nitric oxide donor, diethylamine NONOate. (PMID: 20096283) Yip K.H. … Lau H.Y. (Eur. J. Pharmacol. 2010) 23 67
  5. Opposing regulation of human alveolar type II cell differentiation by nitric oxide and hyperoxia. (PMID: 20098340) Johnston L.C. … Ischiropoulos H. (Pediatr. Res. 2010) 23 67

Products for SGCB Gene

Sources for SGCB Gene

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