Version 5.4
Homo sapiens Gene: SGCA
Summary
InnateDB Gene IDBG-58166.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SGCA
Gene Name sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
Synonyms 50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1
Species Homo sapiens
Ensembl Gene ENSG00000108823
Encoded Proteins
IDBP-58168
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
IDBP-58170
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
IDBP-477029
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
IDBP-484152
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
IDBP-475824
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
IDBP-478457
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
IDBP-482783
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
IDBP-477829
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:50164214-50175931
Strand Forward strand
Band q21.33
Transcripts
ENST00000262018 ENSP00000262018
ENST00000344627 ENSP00000345522
ENST00000513942
ENST00000514934 ENSP00000423168
ENST00000513821 ENSP00000426571
ENST00000502555 ENSP00000422817
ENST00000511303 ENSP00000426104
ENST00000512526 ENSP00000426606
ENST00000504073 ENSP00000422030
ENST00000508382
ENST00000505964
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 7 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
Biological Process
GO:0006936 muscle contraction
GO:0007517 muscle organ development
Cellular Component
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005911 cell-cell junction
GO:0016010 dystrophin-associated glycoprotein complex
GO:0016011 dystroglycan complex
GO:0016012 sarcoglycan complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0042383 sarcolemma
GO:0045121 membrane raft
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000001508
View Gene Order
ENSBTAG00000003956
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
hsa05410
Hypertrophic cardiomyopathy (HCM) pathway
hsa05414
Dilated cardiomyopathy pathway
hsa05416
Viral myocarditis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL D6R9S3
UniProt Splice Variant
Entrez Gene 6442
UniGene
RefSeq NM_000023 NM_001135697 XM_006722014
HUGO HGNC:10805
OMIM 600119
CCDS CCDS32679 CCDS45729
HPRD 02525
IMGT
EMBL AC015909
GenPept
RNA Seq Atlas 6442

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca