InnateDB Protein
|
IDBP-14869.5
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
SGCG
|
Protein Name
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
Synonyms
|
A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000218867
|
InnateDB Gene
|
IDBG-14867 (SGCG)
|
Protein Structure
|
|
Function |
Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.
|
Subcellular Localization |
Cell membrane, sarcolemma {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}.
|
Disease Associations |
Limb-girdle muscular dystrophy 2C (LGMD2C) [MIM:253700]: An autosomal recessive degenerative myopathy characterized by rapidly progressive muscle wasting from early childhood with loss of independent ambulation around age 12 years, dystrophic pattern on muscle biopsy, absence of gamma-sarcoglycan and normal dystrophin immunostaining. {ECO:0000269PubMed:10714584, ECO:0000269PubMed:8968757}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
Expressed in skeletal and heart muscle.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated |
Total |
5
[view]
|
Protein-Protein |
5
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
Predicted by orthology |
Total |
4 [view]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR006875
Sarcoglycan complex subunit protein
|
PFAM |
PF04790
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q13326
|
PhosphoSite |
PhosphoSite-
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
6445
|
UniGene |
Hs.37167
|
RefSeq |
NP_000222
|
HUGO |
HGNC:10809
|
OMIM |
608896
|
CCDS |
CCDS9299
|
HPRD |
07039
|
IMGT |
|
EMBL |
AL157766
AL160256
AL356287
BC074777
BC074778
BC109321
U34976
U63389
U63390
U63391
U63392
U63393
U63394
U63395
|
GenPept |
AAC50269
AAD13475
AAH74777
AAH74778
AAI09322
CAI13924
CAI16053
CAI16544
|
|
|