Homo sapiens Gene: SGCD
Summary
InnateDB Gene IDBG-55191.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SGCD
Gene Name sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
Synonyms 35DAG; CMD1L; DAGD; SG-delta; SGCDP; SGD
Species Homo sapiens
Ensembl Gene ENSG00000170624
Encoded Proteins
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:155870344-156767788
Strand Forward strand
Band q33.2
Transcripts
ENST00000337851 ENSP00000338343
ENST00000435422 ENSP00000403003
ENST00000517913 ENSP00000429378
ENST00000524347 ENSP00000430794
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 3 [view]
Protein-DNA 1 [view]
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:0005515 protein binding
Biological Process
GO:0007517 muscle organ development
Cellular Component
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0016010 dystrophin-associated glycoprotein complex
GO:0016011 dystroglycan complex
GO:0016012 sarcoglycan complex
GO:0016021 integral component of membrane
GO:0042383 sarcolemma
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
Hypertrophic cardiomyopathy (HCM) pathway
Dilated cardiomyopathy pathway
Viral myocarditis pathway
INOH
PID NCI
Cross-References
SwissProt Q92629
TrEMBL
UniProt Splice Variant
Entrez Gene 6444
UniGene Hs.387207 Hs.644733 Hs.708327
RefSeq NM_001128209 NM_000337 NM_172244 XM_005265965 XM_005265966 XM_006714911 XM_006714912
HUGO HGNC:10807
OMIM 601411
CCDS CCDS47327 CCDS47325 CCDS47326
HPRD 03246
IMGT
EMBL AK292794 BC020740 BX537948 U58331 X95191
GenPept AAC50921 AAH20740 BAF85483 CAA64490 CAD97916
RNA Seq Atlas 6444