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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6445
Gene name	Sarcoglycan gamma
Gene symbol	SGCG
Synonyms (NCBI Gene)	35DAGA4DAGA4DMDADMDA1LGMD2CLGMDR5MAMSCARMD2gamma-SG
Chromosome	13
Chromosome location	13q12.12
Summary	This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystrogly

Show/Hide all (25)

SNP ID	Visualize variation	Clinical significance	Consequence
rs114160429	A>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs140810408	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs144497243	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs149595403	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs199905729	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs200206447	T>A,C,G	Pathogenic, likely-pathogenic	Splice donor variant
rs200502077	G>C	Pathogenic, likely-pathogenic	Splice donor variant
rs560640452	A>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs762777463	->T	Pathogenic	Frameshift variant, coding sequence variant
rs774582375	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs781760379	T>C	Pathogenic	Coding sequence variant, missense variant
rs786204786	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs797045106	AGTA>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs886042540	TTACTGT>-	Pathogenic	Coding sequence variant, stop gained
rs886042757	A>G	Pathogenic	Splice acceptor variant
rs913248720	G>A	Likely-pathogenic	Splice acceptor variant
rs1262459682	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1432706111	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1555234799	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555234810	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555240119	A>C	Likely-pathogenic	Splice acceptor variant
rs1555245353	G>C	Likely-pathogenic	Splice donor variant
rs1566011034	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1593197637	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593216248	T>C	Likely-pathogenic	Splice donor variant

117

Show/Hide all (117)

miRTarBase ID	miRNA	Experiments
MIRT1342989	hsa-miR-1278	CLIP-seq
MIRT1342990	hsa-miR-2113	CLIP-seq
MIRT1342991	hsa-miR-3179	CLIP-seq
MIRT1342992	hsa-miR-33a	CLIP-seq
MIRT1342993	hsa-miR-33b	CLIP-seq
MIRT1342994	hsa-miR-342-3p	CLIP-seq
MIRT1342995	hsa-miR-3611	CLIP-seq
MIRT1342996	hsa-miR-421	CLIP-seq
MIRT1342997	hsa-miR-4260	CLIP-seq
MIRT1342998	hsa-miR-4303	CLIP-seq
MIRT1342999	hsa-miR-4420	CLIP-seq
MIRT1343000	hsa-miR-4682	CLIP-seq
MIRT1343001	hsa-miR-4708-3p	CLIP-seq
MIRT1343002	hsa-miR-4709-5p	CLIP-seq
MIRT1343003	hsa-miR-4711-3p	CLIP-seq
MIRT1343004	hsa-miR-4761-3p	CLIP-seq
MIRT1343005	hsa-miR-4762-3p	CLIP-seq
MIRT1343006	hsa-miR-4775	CLIP-seq
MIRT1343007	hsa-miR-486-3p	CLIP-seq
MIRT1343008	hsa-miR-517b	CLIP-seq
MIRT1343009	hsa-miR-548g	CLIP-seq
MIRT1343010	hsa-miR-578	CLIP-seq
MIRT1343011	hsa-miR-581	CLIP-seq
MIRT1343012	hsa-miR-590-3p	CLIP-seq
MIRT1343013	hsa-miR-592	CLIP-seq
MIRT1343014	hsa-miR-599	CLIP-seq
MIRT2101375	hsa-miR-128	CLIP-seq
MIRT2101376	hsa-miR-1299	CLIP-seq
MIRT2101377	hsa-miR-142-5p	CLIP-seq
MIRT2101378	hsa-miR-323-3p	CLIP-seq
MIRT2101379	hsa-miR-340	CLIP-seq
MIRT2101380	hsa-miR-3682-5p	CLIP-seq
MIRT1342996	hsa-miR-421	CLIP-seq
MIRT1342998	hsa-miR-4303	CLIP-seq
MIRT2101381	hsa-miR-4326	CLIP-seq
MIRT1343000	hsa-miR-4682	CLIP-seq
MIRT2101382	hsa-miR-4703-3p	CLIP-seq
MIRT1343001	hsa-miR-4708-3p	CLIP-seq
MIRT1343002	hsa-miR-4709-5p	CLIP-seq
MIRT2101383	hsa-miR-4718	CLIP-seq
MIRT1343004	hsa-miR-4761-3p	CLIP-seq
MIRT1343005	hsa-miR-4762-3p	CLIP-seq
MIRT1343006	hsa-miR-4775	CLIP-seq
MIRT2101384	hsa-miR-485-3p	CLIP-seq
MIRT1343012	hsa-miR-590-3p	CLIP-seq
MIRT2101385	hsa-miR-671-5p	CLIP-seq
MIRT2101386	hsa-miR-875-3p	CLIP-seq
MIRT2621548	hsa-miR-1185	CLIP-seq
MIRT2621549	hsa-miR-1294	CLIP-seq
MIRT2101376	hsa-miR-1299	CLIP-seq
MIRT2621550	hsa-miR-1301	CLIP-seq
MIRT2621551	hsa-miR-1827	CLIP-seq
MIRT2621552	hsa-miR-3123	CLIP-seq
MIRT2621553	hsa-miR-3605-5p	CLIP-seq
MIRT2621554	hsa-miR-3679-5p	CLIP-seq
MIRT2101380	hsa-miR-3682-5p	CLIP-seq
MIRT2621555	hsa-miR-3944-5p	CLIP-seq
MIRT2621556	hsa-miR-4264	CLIP-seq
MIRT2621557	hsa-miR-4278	CLIP-seq
MIRT2621558	hsa-miR-4292	CLIP-seq
MIRT1342998	hsa-miR-4303	CLIP-seq
MIRT2621559	hsa-miR-4308	CLIP-seq
MIRT2621560	hsa-miR-4316	CLIP-seq
MIRT2101381	hsa-miR-4326	CLIP-seq
MIRT2621561	hsa-miR-4455	CLIP-seq
MIRT2621562	hsa-miR-4660	CLIP-seq
MIRT2621563	hsa-miR-4662a-3p	CLIP-seq
MIRT2621564	hsa-miR-4664-3p	CLIP-seq
MIRT2621565	hsa-miR-4667-5p	CLIP-seq
MIRT1343000	hsa-miR-4682	CLIP-seq
MIRT2621566	hsa-miR-4700-5p	CLIP-seq
MIRT2621567	hsa-miR-4716-3p	CLIP-seq
MIRT2621568	hsa-miR-4723-5p	CLIP-seq
MIRT1343005	hsa-miR-4762-3p	CLIP-seq
MIRT1343006	hsa-miR-4775	CLIP-seq
MIRT2621569	hsa-miR-5047	CLIP-seq
MIRT1343012	hsa-miR-590-3p	CLIP-seq
MIRT2621570	hsa-miR-609	CLIP-seq
MIRT2621571	hsa-miR-622	CLIP-seq
MIRT2621572	hsa-miR-637	CLIP-seq
MIRT2101385	hsa-miR-671-5p	CLIP-seq
MIRT2101386	hsa-miR-875-3p	CLIP-seq
MIRT2621548	hsa-miR-1185	CLIP-seq
MIRT2621549	hsa-miR-1294	CLIP-seq
MIRT2101376	hsa-miR-1299	CLIP-seq
MIRT2621550	hsa-miR-1301	CLIP-seq
MIRT2621551	hsa-miR-1827	CLIP-seq
MIRT2621552	hsa-miR-3123	CLIP-seq
MIRT2621553	hsa-miR-3605-5p	CLIP-seq
MIRT2621554	hsa-miR-3679-5p	CLIP-seq
MIRT2101380	hsa-miR-3682-5p	CLIP-seq
MIRT2621555	hsa-miR-3944-5p	CLIP-seq
MIRT2621556	hsa-miR-4264	CLIP-seq
MIRT2621557	hsa-miR-4278	CLIP-seq
MIRT2621558	hsa-miR-4292	CLIP-seq
MIRT1342998	hsa-miR-4303	CLIP-seq
MIRT2621559	hsa-miR-4308	CLIP-seq
MIRT2621560	hsa-miR-4316	CLIP-seq
MIRT2101381	hsa-miR-4326	CLIP-seq
MIRT2621561	hsa-miR-4455	CLIP-seq
MIRT2621562	hsa-miR-4660	CLIP-seq
MIRT2621563	hsa-miR-4662a-3p	CLIP-seq
MIRT2621564	hsa-miR-4664-3p	CLIP-seq
MIRT2621565	hsa-miR-4667-5p	CLIP-seq
MIRT1343000	hsa-miR-4682	CLIP-seq
MIRT2621566	hsa-miR-4700-5p	CLIP-seq
MIRT2621567	hsa-miR-4716-3p	CLIP-seq
MIRT2621568	hsa-miR-4723-5p	CLIP-seq
MIRT1343005	hsa-miR-4762-3p	CLIP-seq
MIRT1343006	hsa-miR-4775	CLIP-seq
MIRT2621569	hsa-miR-5047	CLIP-seq
MIRT1343012	hsa-miR-590-3p	CLIP-seq
MIRT2621570	hsa-miR-609	CLIP-seq
MIRT2621571	hsa-miR-622	CLIP-seq
MIRT2621572	hsa-miR-637	CLIP-seq
MIRT2101385	hsa-miR-671-5p	CLIP-seq
MIRT2101386	hsa-miR-875-3p	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	23414517, 32296183
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	8641426
GO:0007517	Process	Muscle organ development	TAS	8641426
GO:0010467	Process	Gene expression	IEA
GO:0016011	Component	Dystroglycan complex	IEA
GO:0016012	Component	Sarcoglycan complex	IBA
GO:0016012	Component	Sarcoglycan complex	IEA
GO:0016012	Component	Sarcoglycan complex	TAS	8641426
GO:0016020	Component	Membrane	IEA
GO:0042383	Component	Sarcolemma	IBA
GO:0042383	Component	Sarcolemma	IEA
GO:0048738	Process	Cardiac muscle tissue development	IBA
GO:0060047	Process	Heart contraction	IBA

MIM	HGNC	e!Ensembl
608896	10809	ENSG00000102683

Q13326

Protein name

Gamma-sarcoglycan (Gamma-SG) (35 kDa dystrophin-associated glycoprotein) (35DAG)

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
PF04790	Sarcoglycan_1	25 → 279	Sarcoglycan complex subunit protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in skeletal and heart muscle.

Sequence

MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKV
MWFSPAGMGHLCVTKDGLRLEGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEG
EVTGRLKVGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVVGTDKLRVTGPEGALFEHSVE
TPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALSQMDILFHSSDGMLVLDAE
TVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL

Sequence length

291

Interactions

View interactions

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

557

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the musculature	Pathogenic	rs1881219252	RCV001814266
Autosomal recessive limb-girdle muscular dystrophy	Pathogenic; Likely pathogenic	rs762777463, rs104894423, rs786204786, rs547818652, rs200502077, rs886042757, rs781760379, rs200206447, rs1883152345	RCV004998070 RCV004766977 RCV004998364 RCV002265721 RCV001553764 RCV002265724 RCV004999243 RCV003230597 RCV004998583
Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely pathogenic; Pathogenic	rs886042757, rs79500874, rs1881865054, rs2137528297, rs2137528349, rs2137501447, rs768134426, rs2137501584, rs2137528312, rs1484553312, rs2137644772, rs1180551378, rs2137501542, rs1196026821, rs2137528211 View all (67 more)	RCV001379346 RCV001387160 RCV001390777 RCV001384531 RCV001386562 RCV001527390 RCV001785869 RCV001785870 RCV001783740 RCV001999932 RCV001946741 RCV001893133 RCV001944707 RCV001887587 RCV002007535 RCV001939644 RCV001959163 RCV001909623 RCV001892371 RCV002254411 RCV000002082 RCV000002083 RCV000002085 RCV000002086 RCV002308375 RCV002306935 RCV002307041 RCV000169675 RCV003062566 RCV000190623 RCV002834929 RCV002853211 RCV000211579 RCV003131442 RCV003134002 RCV000260683 RCV001855114 RCV000340955 RCV000817669 RCV002518901 RCV003765655 RCV001850454 RCV003485572 RCV003340701 RCV003338920 RCV003472694 RCV003472695 RCV003472696 RCV003472698 RCV003472699 RCV003472701 RCV003472702 RCV003472703 RCV003472704 RCV003472705 RCV003499647 RCV003497503 RCV003498693 RCV003603231 RCV003604346 RCV003604289 RCV003604325 RCV004573581 RCV004573582 RCV000673462 RCV000532127 RCV000673395 RCV000668598 RCV000667789 RCV000665539 RCV000671286 RCV000669493 RCV000669602 RCV000671426 RCV000670718 RCV000673041 RCV000669411 RCV000671119 RCV005056492 RCV000786075 RCV000806806 RCV000811151 RCV000855421 RCV001004965 RCV001061556 RCV001065557 RCV001066887 RCV001041822 RCV001037350 RCV001237760 RCV001240066
SGCG-related congenital myopathy	Pathogenic	rs786204786	RCV004586589
SGCG-related disorder	Likely pathogenic; Pathogenic	rs547818652	RCV004758680

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs763531562, rs762840469	-
Acute myeloid leukemia	Benign; Likely benign	rs111358030	RCV005891211
Cholangiocarcinoma	Benign	rs568365779	RCV005869230
Familial cancer of breast	Benign	rs568365779	RCV005869229
Gastric cancer	Benign	rs1536729	RCV005915647
Limb-girdle muscular dystrophy, recessive	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs139369964, rs200191311, rs147820869, rs886050064, rs3751372, rs115918628, rs886050066, rs886050065, rs141771521, rs763780768, rs188804783, rs4770403, rs527562042, rs886050067, rs11843731, rs1800350, rs1800351, rs17314986 View all (3 more)	RCV000284464 RCV000385415 RCV000399428 RCV000294340 RCV000310450 RCV000369399 RCV000283993 RCV000401679 RCV000393937 RCV000332374 RCV000407197 RCV000295084 RCV000271055 RCV000341376 RCV000381497 RCV000355948 RCV000302440 RCV000325049
Lung cancer	Benign	rs1536728	RCV005915827
Ovarian serous cystadenocarcinoma	Benign	rs1536729, rs1536728	RCV005915648 RCV005915825
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	rs183204936	RCV000852689
Proximal muscle weakness	Uncertain significance	rs1267509253	RCV000850324
Sarcoglycanopathy	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs35628352, rs139369964, rs200191311, rs147820869, rs148041867, rs886050064, rs3751372, rs115918628, rs886050065, rs141771521, rs763780768, rs188804783, rs4770403, rs527562042, rs144143366 View all (20 more)	RCV001111148 RCV000339387 RCV001094119 RCV001094189 RCV001110405 RCV000384087 RCV000365130 RCV000277123 RCV000349299 RCV000301117 RCV000295781 RCV000345323 RCV000336138 RCV001094118 RCV001111150 RCV001113156 RCV001111146 RCV001113155 RCV001114438 RCV001110406 RCV001111147 RCV001111149 RCV001111151 RCV001113158 RCV001114522 RCV001110486 RCV001110487 RCV001111246 RCV001111248 RCV001111249 RCV001111250 RCV001111251 RCV000393920 RCV001094096 RCV001094097
Sarcoma	Benign	rs763225044	RCV005935058
Thymoma	Benign; Likely benign	rs111358030	RCV005891212
Uterine carcinosarcoma	Benign	rs1536729, rs1536728	RCV005915649 RCV005915826
Uterine corpus endometrial carcinoma	Benign	rs568365779	RCV005869231

Show/Hide Text Mining Associations (37)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aging Premature	Associate	36419337
Alzheimer Disease	Stimulate	34440738
Atrial Fibrillation	Associate	30061737
Carcinoma Non Small Cell Lung	Inhibit	21412013
Cardiomegaly	Associate	37221368
Cardiomyopathies	Associate	10662809
Charcot Marie Tooth disease Type 2F	Associate	24565866
Colorectal Neoplasms	Associate	31612869
Diabetic Cardiomyopathies	Associate	37221368
Diabetic Nephropathies	Associate	33679616
Glioblastoma	Associate	24358143
Glycogen Storage Disease Type II	Associate	31931849
Graves Ophthalmopathy	Associate	37900130
Heart Diseases	Associate	10662809
HIV Infections	Associate	36419337
Hypergammaglobulinemia	Stimulate	1299344
Immunologic Deficiency Syndromes	Stimulate	16100969
Inflammation	Associate	21412013
Insulin Resistance	Associate	29986096
Kidney Diseases	Associate	33679616
Limb girdle muscular dystrophy autosomal recessive	Associate	24552312, 36292638, 9032047
Limb girdle muscular dystrophy type 2C	Associate	20350330, 24552312, 29720576, 33386810, 8900232
Limb girdle muscular dystrophy type 2F	Associate	39336735
Lumbar Stenosis Familial	Associate	39336735
Lymphedema Congenital Recessive	Associate	31931849
Macroglossia	Associate	39336735
Memory Disorders	Associate	36419337
Meningioma	Associate	39336735
Muscular Atrophy	Associate	29351619
Muscular Diseases	Associate	9032047
Muscular Dystrophies	Associate	19835634, 8900232
Muscular Dystrophies Limb Girdle	Associate	16100969, 19770540, 24565866, 27708273, 30838351, 36292638, 37688281, 8943294
Retinal Dystrophies	Associate	29351619
Sarcoglycanopathies	Associate	18535179, 19770540, 24638197, 30764848, 33386810
Sarcoglycanopathies	Stimulate	9429136
Spastic ataxia Charlevoix Saguenay type	Associate	10053011
Waardenburg Syndrome Type 2C	Associate	24552312, 39336735

SGCG (sarcoglycan gamma)