SGCD (sarcoglycan delta)

2014-11-01  

Identity

HGNC
LOCATION
5q33.3
LOCUSID
ALIAS
35DAG,CMD1L,DAGD,LGMDR6,SG-delta,SGCDP,SGD
FUSION GENES

Other Information

Locus ID:

NCBI: 6444
MIM: 601411
HGNC: 10807
Ensembl: ENSG00000170624

Variants:

dbSNP: 6444
ClinVar: 6444
TCGA: ENSG00000170624
COSMIC: SGCD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170624ENST00000337851Q92629
ENSG00000170624ENST00000435422Q92629
ENSG00000170624ENST00000517913Q92629
ENSG00000170624ENST00000524347E5RI34

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Viral myocarditisKEGGhsa05416

References

Pubmed IDYearTitleCitations
284127372017Whole-exome sequencing identifies SGCD and ACVRL1 mutations associated with total anomalous pulmonary venous return (TAPVR) in Chinese population.6
284127372017Whole-exome sequencing identifies SGCD and ACVRL1 mutations associated with total anomalous pulmonary venous return (TAPVR) in Chinese population.6
269685442016Dilated cardiomyopathy mutations in δ-sarcoglycan exert a dominant-negative effect on cardiac myocyte mechanical stability.6
269685442016Dilated cardiomyopathy mutations in δ-sarcoglycan exert a dominant-negative effect on cardiac myocyte mechanical stability.6
267207222015A Haplotype of Two Novel Polymorphisms in δ-Sarcoglycan Gene Increases Risk of Dilated Cardiomyopathy in Mongoloid Population.1
267207222015A Haplotype of Two Novel Polymorphisms in δ-Sarcoglycan Gene Increases Risk of Dilated Cardiomyopathy in Mongoloid Population.1
254741152014The CC genotype of the delta-sarcoglycan gene polymorphism rs13170573 is associated with obstructive sleep apnea in the Chinese population.0
254741152014The CC genotype of the delta-sarcoglycan gene polymorphism rs13170573 is associated with obstructive sleep apnea in the Chinese population.0
237864422013Genetic variation at the delta-sarcoglycan (SGCD) locus elevates heritable sympathetic nerve activity in human twin pairs.2
237864422013Genetic variation at the delta-sarcoglycan (SGCD) locus elevates heritable sympathetic nerve activity in human twin pairs.2
201810372010Incorporating prior knowledge to facilitate discoveries in a genome-wide association study on age-related macular degeneration.15
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203844572010Delta-sarcoglycan gene polymorphism frequency in Amerindian and Mestizo populations of Mexico.3
204740832010A novel custom resequencing array for dilated cardiomyopathy.28
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15

Citation

Dessen P

SGCD (sarcoglycan delta)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73179/gene-fusions-explorer/gene-explorer/favicon/favicon-32x32.png