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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
204740832010A novel custom resequencing array for dilated cardiomyopathy.20
189960102008Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?18
201810372010Incorporating prior knowledge to facilitate discoveries in a genome-wide association study on age-related macular degeneration.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
170363162006The beta-delta-core of sarcoglycan is essential for deposition at the plasma membrane.9
176528922007Impact of delta-sarcoglycan gene polymorphism on the occurrence of coronary spastic angina in Japanese patients with hypertrophic cardiomyopathy.6
176528922007Impact of delta-sarcoglycan gene polymorphism on the occurrence of coronary spastic angina in Japanese patients with hypertrophic cardiomyopathy.6
186493582008Replication of a genome-wide case-control study of esophageal squamous cell carcinoma.6

Citation

Dessen P

SGCD (sarcoglycan delta)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73179/sgcd