Property Summary

NCBI Gene PubMed Count 46
PubMed Score 131.29
PubTator Score 42.91

Knowledge Summary


No data available


  Disease (7)


Protein-protein Interaction (4)

Gene RIF (16)

26720722 haplotype -_G composed of c.-100~-110 and A848G confers higher susceptibility to dilated cardiomyopathy in the Mongoloid population.
25474115 CC genotype of the delta-sarcoglycan gene polymorphism rs13170573 is associated with obstructive sleep apnea in the Chinese population
23786442 Genetic variation at the delta-sarcoglycan locus elevates heritable sympathetic nerve activity in human twin pairs
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20474083 Observational study of genetic testing. (HuGE Navigator)
20384457 Observational study of genotype prevalence. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20181037 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20161521 Observational study and genome-wide association study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19259135 Finding questions the pathological relevance of sequence variant of the delta-sarcoglycan gene for causing familial autosomal-dominant dilated cardiomyopathy.
18996010 The limb-girdle muscular dystrophy patients with delta-sarcoglycan deficient LGMD2F do not enable an accurate prediction of the genotype.
18649358 Observational study of gene-disease association. (HuGE Navigator)
17652892 Observational study of gene-disease association. (HuGE Navigator)
17652892 The 5'-UTR G to C polymorphism on delta-sarcoglycan gene was associated with coronary spasm in Japanese patients with hypertrophic cardiomyopathy.
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.

AA Sequence

CQINTSVCL                                                                 281 - 289

Text Mined References (47)

PMID Year Title
26720722 2015 A Haplotype of Two Novel Polymorphisms in ?-Sarcoglycan Gene Increases Risk of Dilated Cardiomyopathy in Mongoloid Population.
25474115 2014 The CC genotype of the delta-sarcoglycan gene polymorphism rs13170573 is associated with obstructive sleep apnea in the Chinese population.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24023788 2013 Gene network analysis in a pediatric cohort identifies novel lung function genes.
23786442 2013 Genetic variation at the delta-sarcoglycan (SGCD) locus elevates heritable sympathetic nerve activity in human twin pairs.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20474083 2010 A novel custom resequencing array for dilated cardiomyopathy.
20384457 2010 Delta-sarcoglycan gene polymorphism frequency in Amerindian and Mestizo populations of Mexico.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20181037 2010 Incorporating prior knowledge to facilitate discoveries in a genome-wide association study on age-related macular degeneration.
20161521 2009 Detecting Genes and Gene-gene Interactions for Age-related Macular Degeneration with a Forest-based Approach.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19260139 2009 Genome-wide association study of anthropometric traits in Korcula Island, Croatia.
19259135 2009 Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?
19010793 2009 Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
18996010 2008 Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
18649358 2008 Replication of a genome-wide case-control study of esophageal squamous cell carcinoma.
17993586 2008 Expression of the dystrophin-glycoprotein complex is a marker for human airway smooth muscle phenotype maturation.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17652892 2007 Impact of delta-sarcoglycan gene polymorphism on the occurrence of coronary spastic angina in Japanese patients with hypertrophic cardiomyopathy.
17036316 2006 The beta-delta-core of sarcoglycan is essential for deposition at the plasma membrane.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
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.
14564412 2003 A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy.
14506720 2003 Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans.
12794684 2003 Mutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10993904 2000 Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex.
10974018 2000 Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.
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.
10767327 2000 Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy.
10735275 1997 Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).
10629222 2000 Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein.
10608889 1999 Sarcoglycan isoforms in skeletal muscle.
10481911 1999 Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy.
10341878 1999 rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy.
9864373 1998 Molecular organization of sarcoglycan complex in mouse myotubes in culture.
9832045 1998 A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.
9339364 1997 Novel genes mapping to the critical region of the 5q- syndrome.
8943294 1996 Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy.
8889549 1996 Generation and analysis of 280,000 human expressed sequence tags.
8842738 1996 Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein.
8841194 1996 Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.
8776597 1996 Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD.