Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SGCB Gene

Aliases for SGCB Gene

  • Sarcoglycan Beta 2 3 5
  • 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
  • Beta-Sarcoglycan(43kD Dystrophin-Associated Glycoprotein) 3
  • Limb Girdle Muscular Dystrophy 2E (Non-Linked Families) 3
  • Beta-Sarcoglycan 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) is a Protein Coding gene. Diseases associated with SGCB include Muscular Dystrophy, Limb-Girdle, Type 2A and Limb-Girdle Muscular Dystrophy. Among its related pathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Dilated cardiomyopathy (DCM).

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

Additional gene information for SGCB Gene

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

Genomics for SGCB Gene

GeneHancer (GH) Regulatory Elements for SGCB Gene

Promoters and enhancers for SGCB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J052051 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 655.3 -13.5 -13466 1.9 PKNOX1 ARID4B SIN3A DMAP1 BMI1 DNMT3B ZNF48 YY1 ZNF335 ZNF121 SGCB SPATA18 GC04P052290
GH04J052036 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 655.8 +0.6 649 2.6 STAT1 MXI1 L3MBTL2 NRF1 ZBTB8A E2F1 FOXM1 ZNF335 POLR2A PATZ1 SGCB LRRC66
GH04J052059 Enhancer 0.2 ENCODE 11.6 -21.1 -21078 0.1 SGCB SPATA18 GC04P052290
GH04J052010 Enhancer 0.2 ENCODE 11.6 +26.3 26263 3.1 SGCB DCUN1D4 LINC02480 LRRC66 GC04P051994
GH04J052014 Promoter/Enhancer 1.1 EPDnew ENCODE 0.3 +20.7 20733 6.2 CTCF FOXA2 NFIA ZNF644 RAD21 TEAD3 XRCC5 BCL6 RXRB MIXL1 LRRC66 DCUN1D4 SGCB GC04P051994
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SGCB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SGCB gene promoter:
  • CREB
  • AP-1
  • Nkx2-5
  • p53
  • c-Jun
  • ATF-2
  • deltaCREB

Genomic Locations for SGCB Gene

Genomic Locations for SGCB Gene
chr4:52,020,695-52,038,482
(GRCh38/hg38)
Size:
17,788 bases
Orientation:
Minus strand
chr4:52,886,861-52,904,648
(GRCh37/hg19)
Size:
17,788 bases
Orientation:
Minus strand

Genomic View for SGCB Gene

Genes around SGCB on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for SGCB Gene

  • Disulfide bonds are present.
  • Glycosylation at posLast=258258, posLast=211211, and posLast=158158
  • Ubiquitination at isoforms=2111
  • Modification sites at PhosphoSitePlus

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

Gene Families for SGCB Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

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

Function for SGCB Gene

Molecular function for SGCB Gene

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

Human Phenotype Ontology for SGCB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SGCB Gene

MGI Knock Outs for SGCB:

Animal Model Products

CRISPR Products

miRNA for SGCB Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SGCB

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SGCB gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
cytosol 4
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

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:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane TAS 7581448
GO:0016010 dystrophin-associated glycoprotein complex IDA 17993586
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:0061024 membrane organization IBA --
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

(46) Drugs for SGCB Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(37) Additional Compounds for SGCB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SGCB: view

Transcripts for SGCB Gene

mRNA/cDNA for SGCB Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(239) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SGCB Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SGCB

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SGCB Gene



Protein tissue co-expression partners for SGCB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SGCB Gene:

SGCB

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.

Evidence on tissue expression from TISSUES for SGCB Gene

  • Nervous system(4.9)
  • Muscle(4.6)
  • Liver(4.5)
  • Stomach(3.3)
  • Heart(2.7)
  • Intestine(2.5)
  • Kidney(2.3)
  • Lymph node(2.2)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SGCB Gene

Germ Layers:
  • mesoderm
Systems:
  • skeletal muscle
  • skeleton
Regions:
Thorax:
  • clavicle
  • scapula
Pelvis:
  • pelvis
Limb:
  • arm
  • humerus
  • lower limb
  • shin
  • shoulder
  • upper limb
genes like me logo Genes that share expression patterns 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 34 33
  • 99.58 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SGCB 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SGCB 34 33
  • 91.91 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SGCB 34 33
  • 90.43 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sgcb 33
  • 85.44 (n)
mouse
(Mus musculus)
Mammalia Sgcb 16 34 33
  • 84.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SGCB 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves SGCB 34 33
  • 79.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SGCB 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sgcb 33
  • 78.62 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25121 33
zebrafish
(Danio rerio)
Actinopterygii sgcb 34 33
  • 67.85 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Scgbeta 34
  • 21 (a)
OneToOne
Species where no ortholog for SGCB was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SGCB: view image

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 Variation AA Info Type
rs1003710308 uncertain-significance, Beta-sarcoglycanopathy, Limb-Girdle Muscular Dystrophy, Recessive 52,022,839(-) C/A 3_prime_UTR_variant
rs104893868 conflicting-interpretations-of-pathogenicity, Limb-girdle muscular dystrophy, type 2E 52,028,799(-) A/C coding_sequence_variant, stop_gained
rs104893869 pathogenic, Limb-girdle muscular dystrophy, type 2E, Limb-girdle muscular dystrophy 2E (LGMD2E) [MIM:604286], Limb-girdle muscular dystrophy 2E (LGMD2E) [MIM:604286] 52,029,835(-) C/A/G/T coding_sequence_variant, missense_variant
rs104893870 pathogenic, Limb-girdle muscular dystrophy, type 2E, Limb-girdle muscular dystrophy 2E (LGMD2E) [MIM:604286] 52,029,784(-) A/C coding_sequence_variant, missense_variant
rs104893871 pathogenic, Limb-girdle muscular dystrophy, type 2E, Limb-girdle muscular dystrophy 2E (LGMD2E) [MIM:604286] 52,029,808(-) A/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv2522522 CNV deletion 19546169
nsv594201 CNV loss 21841781
nsv829932 CNV gain 17160897
nsv829933 CNV gain 17160897

Variation tolerance for SGCB Gene

Residual Variation Intolerance Score: 32.3% 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)

Additional Variant Information for SGCB Gene

Human Gene Mutation Database (HGMD)
SGCB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SGCB

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
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.

Additional Disease Information for 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. Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). (PMID: 8968749) Bönnemann CG … Kunkel LM (Human molecular genetics 1996) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate. (PMID: 9565988) Duclos F … Campbell KP (Neuromuscular disorders : NMD 1998) 3 4 58
  5. LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3. (PMID: 9631401) Bönnemann CG … Kunkel LM (Neuromuscular disorders : NMD 1998) 3 4 58

Products for SGCB Gene

Sources for SGCB Gene

Content
Loading form....