SGCA (sarcoglycan alpha)

2010-04-01  

Identity

HGNC
SGCA
LOCATION
17q21.33
LOCUSID
6442
ALIAS
50DAG,ADL,DAG2,DMDA2,LGMD2D,LGMDR3,SCARMD1,adhalin
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6442
MIM: 600119
HGNC: 10805
Ensembl: ENSG00000108823

Variants:

dbSNP: 6442
ClinVar: 6442
TCGA: ENSG00000108823
COSMIC: SGCA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108823ENST00000262018Q16586
ENSG00000108823ENST00000262018A0A0S2Z4Q1
ENSG00000108823ENST00000344627Q16586
ENSG00000108823ENST00000344627A0A0S2Z4P8
ENSG00000108823ENST00000502555D6RAA4
ENSG00000108823ENST00000504073H0Y8T1
ENSG00000108823ENST00000511303H7C5V0
ENSG00000108823ENST00000512526H0YAB9
ENSG00000108823ENST00000513821E9PCT8
ENSG00000108823ENST00000514934D6R9S3

Expression (GTEx)

0
50
100
150
200
250
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
210315782010Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.91
252796972014B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan.31
200191822010Mice lacking dystrophin or alpha sarcoglycan spontaneously develop embryonal rhabdomyosarcoma with cancer-associated p53 mutations and alternatively spliced or mutant Mdm2 transcripts.22
168836022006Biglycan binds to alpha- and gamma-sarcoglycan and regulates their expression during development.18
189960102008Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?18
245658662014Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D.10
213618722011Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.7
216568252011Reduced glycosylation of α-dystroglycans on carcinoma cells contributes to formation of highly infiltrative histological patterns in prostate cancer.7
269343792016Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.7
280813712017GWAS Identifies New Loci for Painful Temporomandibular Disorder: Hispanic Community Health Study/Study of Latinos.6

Citation

Dessen P

SGCA (sarcoglycan alpha)

Atlas Genet Cytogenet Oncol Haematol. 2010-04-01

Online version: http://atlasgeneticsoncology.org/gene/51446/sgca