Gene: SGCD

Alternate names for this Gene: 35DAG|CMD1L|DAGD|LGMDR6|SG-delta|SGCDP|SGD

Gene Summary: The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5q33.2-q33.3

Description of this Gene: sarcoglycan delta

Type of Gene: protein-coding

rs1175344271 in SGCD gene and CARDIOMYOPATHY, DILATED, 1L PMID 16524571 2006 Identification of functional domains in sarcoglycans essential for their interaction and plasma membrane targeting.

PMID 10735275 1997 Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).

PMID 19770540 2009 Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T.

PMID 10974018 2000 Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.

rs10056066 in SGCD gene and Chronic Obstructive Airway Disease PMID 26503814 2016 A genome-wide analysis of the response to inhaled β2-agonists in chronic obstructive pulmonary disease.

rs17053082 in SGCD gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 23300278 2013 Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.

rs958444 in SGCD gene and Fasting blood glucose measurement PMID 31021400 2019 Pleiotropy informed adaptive association test of multiple traits using genome-wide association study summary data.

rs11960617 in SGCD gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1175344271 in SGCD gene and Limb-girdle muscular dystrophy type 2F PMID 16524571 2006 Identification of functional domains in sarcoglycans essential for their interaction and plasma membrane targeting.

PMID 10735275 1997 Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).

PMID 19770540 2009 Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T.

PMID 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.

PMID 17994539 2008 Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.

PMID 10838250 2000 A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F.

PMID 8841194 1996 Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.

rs138538719 in SGCD gene and Schizophrenia PMID 27846195 2017 Genome-wide association study of paliperidone efficacy.

PMID 22037555 2011 Common variants on 8p12 and 1q24.2 confer risk of schizophrenia.

rs17053011 in SGCD gene and Secondary malignant neoplasm of colon and/or rectum PMID 30738427 2019 A genome-wide association study identifies single nucleotide polymorphisms associated with time-to-metastasis in colorectal cancer.

rs11960617 in SGCD gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs11960617 in SGCD gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs280471 in SGCD gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4454042 in SGCD gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.