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Sgcd sarcoglycan, delta (dystrophin-associated glycoprotein) [ Mus musculus (house mouse) ]

Gene ID: 24052, updated on 26-Mar-2024

Summary

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Official Symbol
Sgcdprovided by MGI
Official Full Name
sarcoglycan, delta (dystrophin-associated glycoprotein)provided by MGI
Primary source
MGI:MGI:1346525
See related
Ensembl:ENSMUSG00000020354 AllianceGenome:MGI:1346525
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
35DAG; SG-delta; delta-SG; A530047J11Rik
Summary
Acts upstream of or within several processes, including calcium-mediated signaling; cardiac muscle cell contraction; and heart development. Located in sarcolemma and sarcoplasmic reticulum. Part of sarcoglycan complex. Is expressed in brain; mandible; and maxilla. Used to study autosomal recessive limb-girdle muscular dystrophy type 2F and dilated cardiomyopathy 1L. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2F; dilated cardiomyopathy 1L; and muscular dystrophy. Orthologous to human SGCD (sarcoglycan delta). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in bladder adult (RPKM 6.0), heart adult (RPKM 4.5) and 13 other tissues See more
Orthologs
human all
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Genomic context

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Location:
11; 11 B1.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (46861904..47880309, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (46971077..47989451, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_29336 Neighboring gene STARR-seq mESC enhancer starr_29337 Neighboring gene predicted gene, 39817 Neighboring gene STARR-seq mESC enhancer starr_29339 Neighboring gene T cell immunoglobulin and mucin domain containing 4 Neighboring gene STARR-seq mESC enhancer starr_29340 Neighboring gene STARR-seq mESC enhancer starr_29341 Neighboring gene STARR-seq mESC enhancer starr_29342 Neighboring gene STARR-seq mESC enhancer starr_29343 Neighboring gene STARR-seq mESC enhancer starr_29344 Neighboring gene 40S ribosomal protein S2 pseudogene Neighboring gene STARR-seq mESC enhancer starr_29346 Neighboring gene STARR-seq mESC enhancer starr_29347 Neighboring gene predicted gene, 23039 Neighboring gene STARR-seq mESC enhancer starr_29348 Neighboring gene STARR-seq mESC enhancer starr_29349 Neighboring gene STARR-seq mESC enhancer starr_29351 Neighboring gene STARR-seq mESC enhancer starr_29352 Neighboring gene predicted gene, 39818 Neighboring gene zinc finger protein 622 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Lack of Delta-Sarcoglycan (Sgcd) Results in Retinal Degeneration. Perez-Ortiz AC, et al. Int J Mol Sci, 2019 Nov 4. PMID 31689918, Free PMC Article
  2. (-)-Epicatechin improves mitochondrial-related protein levels and ameliorates oxidative stress in dystrophic δ-sarcoglycan null mouse striated muscle. Ramirez-Sanchez I, et al. FEBS J, 2014 Dec. PMID 25284161, Free PMC Article
  3. Magnetic resonance imaging assessment of cardiac dysfunction in δ-sarcoglycan null mice. Wansapura JP, et al. Neuromuscul Disord, 2011 Jan. PMID 20934875, Free PMC Article
  4. Altered calcium pump and secondary deficiency of gamma-sarcoglycan and microspan in sarcoplasmic reticulum membranes isolated from delta-sarcoglycan knockout mice. Solares-Pérez A, et al. Cell Calcium, 2010 Jul. PMID 20638123, Free PMC Article
  5. Specific knockdown of delta-sarcoglycan gene in C2C12 in vitro causes post-translational loss of other sarcoglycans without mechanical stress. Honda M, et al. Mol Cell Biochem, 2009 Mar. PMID 19083155

See all (82) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The retinal layers in Sgcd-/- mice are are significantly thinner and five times more likely to have retinal ruptures.
    Title: Lack of Delta-Sarcoglycan (Sgcd) Results in Retinal Degeneration.
  2. Collectively, these results confirm and extend understanding of a functional role for the dystrophin-glycoprotein complex in the contractile properties of airway smooth muscle and demonstrate that this results in altered lung function in vivo.
    Title: Characterization of the dystrophin-glycoprotein complex in airway smooth muscle: role of δ-sarcoglycan in airway responsiveness.
  3. Myocardial expression of p.S151A cDNA, similar to intact Sgcd cDNA, restores cardiac function, although not being able to prevent myocardial histopathology in Sgcd-null mice completely.
    Title: S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice.
  4. Despite SGC rescue, and contrary to previous observations obtained with WT/mdx chimeras low levels of ESC incorporation were insufficient to produce histological corrections in SGdelta-KO skeletal muscle or heart.
    Title: Dystrophin-compromised sarcoglycan-δ-knockout diaphragm requires full wild-type embryonic stem cell reconstitution for correction.
  5. This study supports a model where dystrophin, but not the sarcoglycans, protects the cardiac myocyte against mechanical damage.
    Title: Distinct pathophysiological mechanisms of cardiomyopathy in hearts lacking dystrophin or the sarcoglycan complex.
  6. dystrophic phenotype observed in delta-sarcoglycan-null (Sgcd(-/-)) mice and dystrophin mutant mdx mice is dramatically improved by skeletal muscle-specific overexpression of sarcoplasmic reticulum Ca(2+) ATPase 1 (SERCA1)
    Title: Mitigation of muscular dystrophy in mice by SERCA overexpression in skeletal muscle.
  7. This study demonstrated that the severe cardiac dysfunction in Scgd(-/-) mice at 8 months.
    Title: Magnetic resonance imaging assessment of cardiac dysfunction in δ-sarcoglycan null mice.
  8. delta-SG isoforms may stabilize gamma-SG and microSPN in transverse tubules and sarcoplasmic reticulum membranes and this possible complex may play a role in maintenance of stable level of resting cytosolic calcium concentration in skeletal muscle.
    Title: Altered calcium pump and secondary deficiency of gamma-sarcoglycan and microspan in sarcoplasmic reticulum membranes isolated from delta-sarcoglycan knockout mice.
  9. Abscence of sarcoglycan delta may be related to pathogenesis of muscular dystrophy.
    Title: Intracellular Ca2+ transients in delta-sarcoglycan knockout mouse skeletal muscle.
  10. These results indicate that mechanical stress is not a primary cause for the loss of other sarcoglycans (SG) when the delta-SG gene is deficient.
    Title: Specific knockdown of delta-sarcoglycan gene in C2C12 in vitro causes post-translational loss of other sarcoglycans without mechanical stress.
Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (3) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within calcium-mediated signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cardiac muscle cell contraction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cardiac muscle cell development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cardiac muscle contraction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cardiac muscle tissue development IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within coronary vasculature morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in heart contraction IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within heart process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within membrane organization TAS
Traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within protein-containing complex localization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
part_of dystroglycan complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of dystrophin-associated glycoprotein complex ISO
Inferred from Sequence Orthology
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 PubMed 
part_of sarcoglycan complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of sarcoglycan complex IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in sarcolemma IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sarcoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
delta-sarcoglycan
Names
35 kDa dystrophin-associated glycoprotein
sarcoglycan, delta (35kD dystrophin-associated glycoprotein)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_011891.5 → NP_036021.1  delta-sarcoglycan

    See identical proteins and their annotated locations for NP_036021.1

    Status: VALIDATED

    Source sequence(s)
    AL669845, AL669857, AL732402, AL772321, AL844598
    Consensus CDS
    CCDS24584.1
    UniProtKB/Swiss-Prot
    P82347
    UniProtKB/TrEMBL
    Q544D4
    Related
    ENSMUSP00000076459.6, ENSMUST00000077221.6
    Conserved Domains (1) summary
    pfam04790
    Location:23 → 276
    Sarcoglycan_1; Sarcoglycan complex subunit protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    46861904..47880309 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006533306.5 → XP_006533369.1  delta-sarcoglycan isoform X1

    See identical proteins and their annotated locations for XP_006533369.1

    UniProtKB/Swiss-Prot
    P82347
    UniProtKB/TrEMBL
    Q544D4
    Conserved Domains (1) summary
    pfam04790
    Location:23 → 276
    Sarcoglycan_1; Sarcoglycan complex subunit protein

  2. XM_006533307.4 → XP_006533370.1  delta-sarcoglycan isoform X1

    See identical proteins and their annotated locations for XP_006533370.1

    UniProtKB/Swiss-Prot
    P82347
    UniProtKB/TrEMBL
    Q544D4
    Conserved Domains (1) summary
    pfam04790
    Location:23 → 276
    Sarcoglycan_1; Sarcoglycan complex subunit protein

  3. XM_036156700.1 → XP_036012593.1  delta-sarcoglycan isoform X1

    UniProtKB/Swiss-Prot
    P82347
    UniProtKB/TrEMBL
    Q544D4
    Conserved Domains (1) summary
    pfam04790
    Location:23 → 276
    Sarcoglycan_1; Sarcoglycan complex subunit protein

  4. XM_036156699.1 → XP_036012592.1  delta-sarcoglycan isoform X1

    UniProtKB/Swiss-Prot
    P82347
    UniProtKB/TrEMBL
    Q544D4
    Conserved Domains (1) summary
    pfam04790
    Location:23 → 276
    Sarcoglycan_1; Sarcoglycan complex subunit protein
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P82347.1 GenPept UniProtKB/Swiss-Prot:P82347

Gene LinkOut

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