• Gene id: 6442

Gene Summary

• Gene Symbol: SGCA   Gene   UCSC   Ensembl
• Aliases: 50DAG, ADL, DAG2, DMDA2, LGMD2D, LGMDR3, SCARMD1, adhalin
• Gene name: sarcoglycan alpha
• Alternate names: alpha-sarcoglycan, 50 kDa dystrophin-associated glycoprotein, 50kD DAG, alpha-SG, dystroglycan-2, limb girdle muscular dystrophy 2D, sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein),
• Gene location: 17q21.33 (50165516: 50175927)     Exons: 10     NC_000017.11
• Gene summary(Entrez): This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted t
• OMIM: 615886

Protein Summary

• Protein general information: Q16586  
  • Name: Alpha sarcoglycan (Alpha SG) (50 kDa dystrophin associated glycoprotein) (50DAG) (Adhalin) (Dystroglycan 2)
  • Length: 387  
  • Mass: 42875
  • Tissue specificity: Most strongly expressed in skeletal muscle. Also expressed in cardiac muscle and, at much lower levels, in lung. In the fetus, most abundant in cardiac muscle and, at lower levels, in lung. Also detected in liver and kidney. Not expres
• Sequence:

  MAETLFWTPLLVVLLAGLGDTEAQQTTLHPLVGRVFVHTLDHETFLSLPEHVAVPPAVHITYHAHLQGHPDLPRW
  LRYTQRSPHHPGFLYGSATPEDRGLQVIEVTAYNRDSFDTTRQRLVLEIGDPEGPLLPYQAEFLVRSHDAEEVLP
  STPASRFLSALGGLWEPGELQLLNVTSALDRGGRVPLPIEGRKEGVYIKVGSASPFSTCLKMVASPDSHARCAQG
  QPPLLSCYDTLAPHFRVDWCNVTLVDKSVPEPADEVPTPGDGILEHDPFFCPPTEAPDRDFLVDALVTLLVPLLV
  ALLLTLLLAYVMCCRREGRLKRDLATSDIQMVHHCTIHGNTEELRQMAASREVPRPLSTLPMFNVHTGERLPPRV
  DSAQVPLILDQH

• Structural information:
  • Interpro: IPR028658  IPR006644  IPR015919  IPR008908  
  • STRING: ENSP00000262018
• Other Databases: GeneCards:  SGCA  Malacards:  SGCA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016012	sarcoglycan complex	IBA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0016012	sarcoglycan complex	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006936	muscle contraction	TAS	biological process
GO:0016010	dystrophin-associated glycoprotein complex	TAS	cellular component
GO:0007517	muscle organ development	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045121	membrane raft	IEA	cellular component
GO:0016012	sarcoglycan complex	IEA	cellular component
GO:0005911	cell-cell junction	IEA	cellular component
GO:0043403	skeletal muscle tissue regeneration	IEA	biological process
GO:0014894	response to denervation involved in regulation of muscle adaptation	IEA	biological process
GO:0042383	sarcolemma	IEA	cellular component
GO:0016011	dystroglycan complex	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0005856	cytoskeleton	IEA	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
Sarcoglycanopathies	KEGG:H00565
Limb-girdle muscular dystrophy	KEGG:H00593
Sarcoglycanopathies	KEGG:H00565
autosomal recessive limb-girdle muscular dystrophy type 2D	PMID:17653106
Muscular dystrophy	PMID:9192266
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray