SGCD (sarcoglycan delta)

2014-11-01  

Identity

HGNC
SGCD
LOCATION
5q33.3
LOCUSID
6444
ALIAS
35DAG,CMD1L,DAGD,LGMDR6,SG-delta,SGCDP,SGD
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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/deep-insight-explorer/favicon/apple-touch-icon.png