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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
  • LGMD2E 3 6
  • 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
  • Beta-Sarcoglycan 3
  • SGC 3

External Ids for SGCB Gene

Previous Symbols for SGCB Gene

  • LGMD2E

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 muscular dystrophy, limb-girdle, type 2e. Among its related pathways are Hypertrophic cardiomyopathy (HCM) and Hypertrophic cardiomyopathy (HCM).

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

Genomic Location for SGCB Gene

Start:
52,019,586 bp from pter
End:
52,052,400 bp from pter
Size:
32,815 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

Regulatory Elements 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 for SGCB Gene

Protein Domains for SGCB Gene

Graphical View of Domain Structure for InterPro Entry

Q16585

UniProtKB/Swiss-Prot:

SGCB_HUMAN
Family:
  • Belongs to the sarcoglycan beta/delta/gamma/zeta family.:
    • Q16585
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targeting 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 2
cytosol 1
extracellular 1
mitochondrion 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 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

Compounds for SGCB Gene

(84) Novoseek inferred chemical compound relationships for SGCB Gene

Compound -log(P) Hits PubMed IDs
guanylate 94.3 104
cgmp 91.7 174
3-(5-hydroxymethyl-2-furyl)-1-benzylindazole 88.4 9
1h-[1,2,4]oxadiazolo[4,3-a]quinoxalin-1-one 84.9 19
nitric oxide 84.5 296
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:

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

Integrated Proteomics: protein expression 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 expressions with SGCB: view

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
chimpanzee
(Pan troglodytes)
Mammalia SGCB 35
  • 99.58 (n)
  • 99.68 (a)
SGCB 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia SGCB 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SGCB 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sgcb 35
  • 85.44 (n)
  • 94.82 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.25121 35
tropical clawed frog
(Silurana tropicalis)
Amphibia sgcb 35
  • 78.62 (n)
  • 85.2 (a)
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
rs13989 -- 52,022,391(-) TGGCA(C/T)GGGCC utr-variant-3-prime
rs172817 -- 52,029,249(+) TTTCA(A/G)CTCTT intron-variant
rs178724 -- 52,030,485(+) tcaga(A/G)tttaa intron-variant
rs225163 -- 52,022,333(-) TTGTG(C/T)ACATA utr-variant-3-prime
rs225165 -- 52,023,436(-) ATAGA(A/T)ACAAT utr-variant-3-prime

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

Relevant External Links for SGCB Gene

HapMap Linkage Disequilibrium report
SGCB
Human Gene Mutation Database (HGMD)
SGCB
Locus Specific Mutation Databases (LSDB)
SGCB

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

Disorders for SGCB Gene

(1) OMIM Diseases for SGCB Gene (600900)

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.

(2) University of Copenhagen DISEASES for SGCB Gene

(24) Novoseek inferred disease relationships for SGCB Gene

Disease -log(P) Hits PubMed IDs
lgmd2e 80.3 3
lgmd2f 76.6 3
lgmd2a 55.4 2
muscular dystrophies 55.2 5
lgmd2b 52.8 1
genes like me logo Genes that share disorders with SGCB: view

Publications for SGCB Gene

  1. Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. (PMID: 7581449) Boennemann C.G. … Kunkel L.M. (Nat. Genet. 1995) 3 4 23
  2. Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). (PMID: 8968749) Bonnemann C.G. … Kunkel L.M. (Hum. Mol. Genet. 1996) 2 3 4
  3. Mutations in the sarcoglycan genes in patients with myopathy. (PMID: 9032047) Duggan D.J. … Angelini C. (N. Engl. J. Med. 1997) 3 4
  4. Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate. (PMID: 9565988) Duclos F. … Campbell K.P. (Neuromuscul. Disord. 1998) 3 4
  5. LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3. (PMID: 9631401) Bonnemann C.G. … Kunkel L.M. (Neuromuscul. Disord. 1998) 3 4

Products for SGCB Gene

Sources for SGCB Gene

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