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

    Gene ID: 24052, updated on 28-Oct-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; dentate gyrus subgranular zone; 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, Oct 2024]
    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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    See Sgcd in Genome Data Viewer
    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 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. Steroid treatment causes deterioration of myocardial function in the {delta}-sarcoglycan-deficient mouse model for dilated cardiomyopathy. Bauer R, et al. Cardiovasc Res, 2008 Sep 1. PMID 18495669
    2. 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
    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. Alpha7beta1 integrin does not alleviate disease in a mouse model of limb girdle muscular dystrophy type 2F. Milner DJ, et al. Am J Pathol, 2007 Feb. PMID 17255329, Free PMC Article
    5. Skeletal myosphere-derived progenitor cell transplantation promotes neovascularization in delta-sarcoglycan knockdown cardiomyopathy. Nomura T, et al. Biochem Biophys Res Commun, 2007 Jan 19. PMID 17150187

    See all (89) 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)
    • Endonuclease-mediated (3) 
    • Targeted (3)  1 citation

    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 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 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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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