Property Summary

NCBI Gene PubMed Count 31
Grant Count 45
R01 Count 28
Funding $5,236,148.4
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 0.033
malignant mesothelioma -4.000 0.000
psoriasis 1.300 0.001
osteosarcoma 2.521 0.000
glioblastoma 1.600 0.004
hereditary spastic paraplegia -1.235 0.019
primary pancreatic ductal adenocarcinoma 1.155 0.008
colon cancer -1.300 0.047
pilocytic astrocytoma 1.200 0.000
aldosterone-producing adenoma -1.284 0.020
ductal carcinoma in situ -1.500 0.002
invasive ductal carcinoma -2.000 0.001
ovarian cancer 1.800 0.002
Gaucher disease type 1 -1.900 0.005

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).
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