• Gene id: 6444

Gene Summary

• Gene Symbol: SGCD   Gene   UCSC   Ensembl
• Aliases: 35DAG, CMD1L, DAGD, LGMDR6, SG-delta, SGCDP, SGD
• Gene name: sarcoglycan delta
• Alternate names: delta-sarcoglycan, 35 kDa dystrophin-associated glycoprotein, delta-SG, dystrophin associated glycoprotein, delta sarcoglycan, placental delta sarcoglycan, sarcoglycan, delta (35kDa dystrophin-associated glycoprotein),
• Gene location: 5q33.2-q33.3 (155728635: 156767787)     Exons: 9     NC_000005.10
• Gene summary(Entrez): 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 prote
• OMIM: 601411

SNPs

rs397515565

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.74310164G>A
NC_000017.11   g.74310164G>C
NC_000017.11   g.74310164G>T
NC_000017.10   g.72306303G>A
NC_000017.10   g.72306303G>C
NC_000017.10   g.72306303G>T
NG_016865.1   g.40918G>A
NG_016865.1   g.40918G>C
NG_016865.1   g.40918G>T|SEQ=[G/A/C/T]|GENE=

rs137852998

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.74299780C>G
NC_000017.11   g.74299780C>T
NC_000017.10   g.72295919C>G
NC_000017.10   g.72295919C>T
NG_016865.1   g.30534C>G
NG_016865.1   g.30534C>T
NM_023036.5   c.787C>G
NM_023036.5   c.787C>T
NM_023036.6   c.787C>G
NM_023036.6   c.787C>T
NM_023036.4  

Protein Summary

• Protein general information: Q92629  
  • Name: Delta sarcoglycan (Delta SG) (35 kDa dystrophin associated glycoprotein) (35DAG)
  • Length: 289  
  • Mass: 32071
  • Tissue specificity: Most strongly expressed in skeletal and cardiac muscle. Also detected in smooth muscle. Weak expression in brain and lung.
• Sequence:

  MPQEQYTHHRSTMPGSVGPQVYKVGIYGWRKRCLYFFVLLLMILILVNLAMTIWILKVMNFTIDGMGNLRITEKG
  LKLEGDSEFLQPLYAKEIQSRPGNALYFKSARNVTVNILNDQTKVLTQLITGPKAVEAYGKKFEVKTVSGKLLFS
  ADNNEVVVGAERLRVLGAEGTVFPKSIETPNVRADPFKELRLESPTRSLVMEAPKGVEINAEAGNMEATCRTELR
  LESKDGEIKLDAAKIRLPRLPHGSYTPTGTRQKVFEICVCANGRLFLSQAGAGSTCQINTSVCL

• Structural information:
  • Interpro: IPR006875  IPR039972  IPR027661  
  • STRING: ENSP00000338343
• Other Databases: GeneCards:  SGCD  Malacards:  SGCD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016012	sarcoglycan complex	IBA	cellular component
GO:0060047	heart contraction	IBA	biological process
GO:0048738	cardiac muscle tissue development	IBA	biological process
GO:0042383	sarcolemma	IBA	cellular component
GO:0016012	sarcoglycan complex	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007517	muscle organ development	TAS	biological process
GO:0007517	muscle organ development	TAS	biological process
GO:0016012	sarcoglycan complex	TAS	cellular component
GO:0086003	cardiac muscle cell contraction	IEA	biological process
GO:0060977	coronary vasculature morphogenesis	IEA	biological process
GO:0060048	cardiac muscle contraction	IEA	biological process
GO:0048739	cardiac muscle fiber development	IEA	biological process
GO:0042383	sarcolemma	IEA	cellular component
GO:0019722	calcium-mediated signaling	IEA	biological process
GO:0016011	dystroglycan complex	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0003015	heart process	IEA	biological process
GO:0055074	calcium ion homeostasis	IEA	biological process
GO:0034629	cellular protein-containing complex localization	IEA	biological process
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0016012	sarcoglycan complex	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0016010	dystrophin-associated glycoprotein complex	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05414	Dilated cardiomyopathy
hsa05410	Hypertrophic cardiomyopathy
hsa05412	Arrhythmogenic right ventricular cardiomyopathy
hsa05416	Viral myocarditis

Diseases

Associated diseases	References
Limb-girdle muscular dystrophy	KEGG:H00593
Dilated cardiomyopathy	KEGG:H00294
Sarcoglycanopathies	KEGG:H00565
Limb-girdle muscular dystrophy	KEGG:H00593
Dilated cardiomyopathy	KEGG:H00294
Sarcoglycanopathies	KEGG:H00565
Muscular dystrophy	PMID:8841194
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq