SGCG (sarcoglycan gamma)

2014-11-01  

Identity

HGNC
SGCG
LOCATION
13q12.12
LOCUSID
6445
ALIAS
35DAG,A4,DAGA4,DMDA,DMDA1,LGMD2C,LGMDR5,MAM,SCARMD2,SCG3,gamma-SG
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6445
MIM: 608896
HGNC: 10809
Ensembl: ENSG00000102683

Variants:

dbSNP: 6445
ClinVar: 6445
TCGA: ENSG00000102683
COSMIC: SGCG

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102683ENST00000218867Q13326

Expression (GTEx)

0
10
20
30
40
50
60
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
381702172024Disruption of MAM integrity in mutant FUS oligodendroglial progenitors from hiPSCs.0
381702172024Disruption of MAM integrity in mutant FUS oligodendroglial progenitors from hiPSCs.0
362926382022Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.2
362926382022Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.2
316829672020Expression, purification, and structural analysis of the full-length human integral membrane protein γ-sarcoglycan.3
325277672020SGCG rs679482 Associates With Weight Loss Success in Response to an Intensively Supervised Outpatient Program.7
316829672020Expression, purification, and structural analysis of the full-length human integral membrane protein γ-sarcoglycan.3
325277672020SGCG rs679482 Associates With Weight Loss Success in Response to an Intensively Supervised Outpatient Program.7
277598852017γ-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort.4
277598852017γ-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort.4
275601432016Crystal Structures of SgcE6 and SgcC, the Two-Component Monooxygenase That Catalyzes Hydroxylation of a Carrier Protein-Tethered Substrate during the Biosynthesis of the Enediyne Antitumor Antibiotic C-1027 in Streptomyces globisporus.7
275601432016Crystal Structures of SgcE6 and SgcC, the Two-Component Monooxygenase That Catalyzes Hydroxylation of a Carrier Protein-Tethered Substrate during the Biosynthesis of the Enediyne Antitumor Antibiotic C-1027 in Streptomyces globisporus.7
256056652015Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle.14
256056652015Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle.14
245348322014Puerto Rican founder mutation G787A in the SGCG gene: a case report of 2 siblings with LGMD 2C.3

Citation

Dessen P

SGCG (sarcoglycan gamma)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73180/sgcg-(sarcoglycan-gamma)