Property Summary

NCBI Gene PubMed Count 31
PubMed Score 783.66
PubTator Score 148.07

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
Rheumatoid Arthritis 1.300 3.3e-02
malignant mesothelioma -4.000 3.0e-08
psoriasis 1.300 1.2e-03
osteosarcoma 2.521 1.8e-04
glioblastoma 1.600 3.5e-03
hereditary spastic paraplegia -1.235 1.9e-02
primary pancreatic ductal adenocarcinoma 1.155 7.8e-03
colon cancer -1.300 4.7e-02
pilocytic astrocytoma 1.200 1.3e-06
aldosterone-producing adenoma -1.284 2.0e-02
ductal carcinoma in situ -1.500 2.4e-03
invasive ductal carcinoma -2.000 1.1e-03
ovarian cancer 1.800 2.2e-03
Gaucher disease type 1 -1.900 4.9e-03

Gene RIF (7)

PMID Text
25862795 Clinical severity of limb-girdle muscular dystrophy type 2Emay be predicted by SGCB gene mutation and sarcoglycan protein expression.
18996010 The limb-girdle muscular dystrophy patients with beta-sarcoglycan deficient LGMD2E do not enable an accurate prediction of the genotype.
18051367 HIV-1 Tat downregulates sarcoglycan, beta in HEK 293T cells
17036316 These data suggest that formation of the beta-delta-core may promote the export and deposition of sarcoglycan subcomplexes at the plasma membrane, and therefore identifies a mechanism for sarcoglycan transport.
16934466 While the quantity of beta-sarcoglycan was nearly normal in the limb girdle muscular dystrophy (LGMD)2E carrier, the levels of dysferlin protein were reduced to 50% of controls in the carriers of LGMD2B.
16088906 beta-sarcoglycan and SPATA18 may have a role in limb-girdle muscular dystrophy type 2E
12060343 Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations

AA Sequence

MAAAAAAAAEQQSSNGPVKKSMREKAVERRSVNKEHNSNFKAGYIPIDEDRLHKTGLRGRKGNLAICVII      1 - 70
LLFILAVINLIITLVIWAVIRIGPNGCDSMEFHESGLLRFKQVSDMGVIHPLYKSTVGGRRNENLVITGN     71 - 140
NQPIVFQQGTTKLSVENNKTSITSDIGMQFFDPRTQNILFSTDYETHEFHLPSGVKSLNVQKASTERITS    141 - 210
NATSDLNIKVDGRAIVRGNEGVFIMGKTIEFHMGGNMELKAENSIILNGSVMVSTTRLPSSSSGDQLGSG    211 - 280
DWVRYKLCMCADGTLFKVQVTSQNMGCQISDNPCGNTH                                    281 - 318
//

Text Mined References (32)

PMID Year Title
25862795 2015 Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
18996010 2008 Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
17993586 2008 Expression of the dystrophin-glycoprotein complex is a marker for human airway smooth muscle phenotype maturation.
17036316 2006 The beta-delta-core of sarcoglycan is essential for deposition at the plasma membrane.
16934466 2006 Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E.
16088906 2005 Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures.
15954112 2005 Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12189167 2002 Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy.
12060343 2002 Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes.
11747090 2001 Localization of sarcoglycan, neuronal nitric oxide synthase, beta-dystroglycan, and dystrophin molecules in normal skeletal myofiber: triple immunogold labeling electron microscopy.
10993904 2000 Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex.
10942431 2000 Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions.
10928275 2000 Differential expression of dystrophin, utrophin, and dystrophin-associated proteins in human muscle culture.
10874299 2000 Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy.
10767327 2000 Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy.
10678176 2000 Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E.
10662809 2000 Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations.
10660328 1998 Noval mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient. Mutations in brief no. 177. Online.
9864373 1998 Molecular organization of sarcoglycan complex in mouse myotubes in culture.
9631401 1998 LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3.
9565988 1998 Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate.
9521867 1998 Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development.
9032047 1997 Mutations in the sarcoglycan genes in patients with myopathy.
8968749 1996 Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).
7581449 1995 Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex.
7581448 1995 Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12.
2081733 1990 Glycoprotein complex anchoring dystrophin to sarcolemma.