Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6442
Gene name Gene Name - the full gene name approved by the HGNC.	Sarcoglycan alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SGCA
Synonyms (NCBI Gene) Gene synonyms aliases	50DAG, ADL, DAG2, DMDA2, LGMD2D, LGMDR3, SCARMD1, adhalin
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q21.33
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(26)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35972733	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, intron variant, non coding transcript variant, coding sequence variant
rs137852623	C>G,T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs138019537	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs139454982	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, intron variant, synonymous variant, non coding transcript variant
rs143570936	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs149487996	C>A	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, non coding transcript variant, coding sequence variant
rs200166783	G>A,T	Uncertain-significance, pathogenic-likely-pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs368522117	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, stop gained, coding sequence variant
rs369385261	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs757481230	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs763372958	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant, non coding transcript variant
rs796065318	->CG	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886043392	G>A	Pathogenic	Intron variant, splice donor variant
rs886043962	C>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs886044512	C>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1057516548	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1057516729	AG>T	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1057517377	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1220674950	G>-	Likely-pathogenic	Splice acceptor variant, intron variant, coding sequence variant, non coding transcript variant
rs1342189589	G>A,C	Pathogenic	Intron variant, splice acceptor variant
rs1412537279	A>T	Likely-pathogenic	Splice acceptor variant, intron variant, non coding transcript variant
rs1555568965	A>C,T	Likely-pathogenic	Intron variant, splice acceptor variant
rs1555569339	G>T	Likely-pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1555569342	TGAATGTGGGCATGAAGG>-	Likely-pathogenic	Splice donor variant, intron variant, non coding transcript variant, coding sequence variant
rs1567741398	C>T	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1598277713	->ATGG	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

Show/Hide all(19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	21516116, 25416956, 25910212, 26871637, 32296183, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IEA
GO:0006936	Process	Muscle contraction	TAS	8069911
GO:0007517	Process	Muscle organ development	TAS	7663524
GO:0016010	Component	Dystrophin-associated glycoprotein complex	IEA
GO:0016010	Component	Dystrophin-associated glycoprotein complex	TAS	7937874
GO:0016011	Component	Dystroglycan complex	IEA
GO:0016012	Component	Sarcoglycan complex	IBA
GO:0016012	Component	Sarcoglycan complex	IEA
GO:0016020	Component	Membrane	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0045121	Component	Membrane raft	IEA

MIM	HGNC	e!Ensembl
600119	10805	ENSG00000108823

Protein

UniProt ID

Q16586

Protein name

Alpha-sarcoglycan (Alpha-SG) (50 kDa dystrophin-associated glycoprotein) (50DAG) (Adhalin) (Dystroglycan-2)

Protein function

Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05510	Sarcoglycan_2	7 → 382	Sarcoglycan alpha/epsilon	Family

Tissue specificity

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

MAETLFWTPLLVVLLAGLGDTEAQQTTLHPLVGRVFVHTLDHETFLSLPEHVAVPPAVHI
TYHAHLQGHPDLPRWLRYTQRSPHHPGFLYGSATPEDRGLQVIEVTAYNRDSFDTTRQRL
VLEIGDPEGPLLPYQAEFLVRSHDAEEVLPSTPASRFLSALGGLWEPGELQLLNVTSALD
RGGRVPLPIEGRKEGVYIKVGSASPFSTCLKMVASPDSHARCAQGQPPLLSCYDTLAPHF
RVDWCNVTLVDKSVPEPADEVPTPGDGILEHDPFFCPPTEAPDRDFLVDALVTLLVPLLV
ALLLTLLLAYVMCCRREGRLKRDLATSDIQMVHHCTIHGNTEELRQMAASREVPRPLSTL
PMFNVHTGERLPPRVDSAQVPLILDQH

Sequence length

387

Interactions

View interactions

	KEGG
	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Dilated cardiomyopathy Viral myocarditis

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy	rs1387802849, rs144356125, rs757888349, rs113109898, rs1342189589, rs1555568396, rs1057516300, rs387907298, rs1598265248, rs1555568335, rs768814872, rs780264754, rs137852621, rs112500642, rs1555568876 View all (58 more)	N/A
Muscular dystrophy	muscular dystrophy	rs138945081	N/A
sarcoglycanopathy	Sarcoglycanopathy	rs28933693, rs143570936, rs137852623	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular cardiomyopathy	N/A	N/A	ClinVar
cardiomyopathy	Cardiomyopathy	N/A	N/A	ClinVar
Hypertrophic cardiomyopathy	hypertrophic cardiomyopathy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Bundle Branch Block	Associate	33567613
Cardiomyopathies	Associate	10662809
Cardiomyopathy Dilated	Associate	9505924
Cardiomyopathy Right Ventricular Dilated	Associate	33567613
Charcot Marie Tooth disease Type 2F	Associate	24565866
Developmental Disabilities	Associate	37628638
Glycogen Storage Disease Type II	Associate	31931849
Heart Diseases	Associate	10662809
Limb girdle muscular dystrophy autosomal recessive	Associate	11303236
Limb girdle muscular dystrophy type 2B	Associate	26916285, 37628638
Limb girdle muscular dystrophy type 2C	Associate	33386810, 7657792
Limb girdle muscular dystrophy type 2C	Inhibit	7657792
Lymphedema Congenital Recessive	Associate	31931849
Multiple Sclerosis	Associate	36680379
Muscle Weakness	Associate	37628638
Muscular Diseases	Associate	35239206
Muscular Dystrophies	Associate	16258658, 19835634, 37628638, 7657792, 8040315, 9192266, 9393893
Muscular Dystrophies Limb Girdle	Associate	16787395, 24565866, 26934379, 27708273, 32576226, 35239206, 8943294
Muscular Dystrophy Duchenne	Associate	7657792
Muscular Dystrophy Limb Girdle Type 1E	Associate	32576226
Myalgia	Associate	33458577
Nephrosis Lipoid	Associate	7657792
Neuromuscular Diseases	Associate	33567613
Sarcoglycanopathies	Associate	18535179, 19798725, 21031578, 24565866, 29351619, 30764848, 30989758, 31061434, 33386810, 33458577, 9192266, 9475163
Sarcoglycanopathies	Stimulate	39755676
Sarcoglycanopathies	Inhibit	9429136

SGCA (sarcoglycan alpha)