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

Summary

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, Dec 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

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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
Abscence of sarcoglycan delta may be related to pathogenesis of muscular dystrophy.
Title: Intracellular Ca2+ transients in delta-sarcoglycan knockout mouse skeletal muscle.
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

48.MMHAP33FLH6.seq (e-PCR)
- UniSTS:124682

NoName (e-PCR)
- UniSTS:492258

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)

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

NC_000077.7 Reference GRCm39 C57BL/6J

Range

46861904..47880309 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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