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	6444
Gene name	Sarcoglycan delta
Gene symbol	SGCD
Synonyms (NCBI Gene)	35DAGCMD1LDAGDLGMDR6SG-deltaSGCDPSGD
Chromosome	5
Chromosome location	5q33.2-q33.3
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs74846539	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs121909295	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs121909296	G>A,C,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs121909297	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121909298	T>G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs180898690	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant, intron variant
rs190935424	T>C	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200451694	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, synonymous variant
rs200670993	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant
rs267607045	G>C	Pathogenic	Missense variant, coding sequence variant
rs367616773	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant, genic downstream transcript variant
rs368838376	G>A,C	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant, synonymous variant
rs376141942	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs397516338	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs397517921	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs397517923	C>A,T	Likely-pathogenic, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, stop gained
rs727503421	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs727503422	G>A	Likely-pathogenic	Splice donor variant
rs727504584	A>C,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs747018859	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs749273088	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs750150347	A>G	Likely-pathogenic	Intron variant
rs756467431	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs886043031	->T	Pathogenic	Coding sequence variant, frameshift variant
rs886043460	T>A	Pathogenic	Coding sequence variant, stop gained
rs1175344271	C>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, downstream transcript variant
rs1267810339	G>A	Likely-pathogenic	Splice donor variant
rs1369919728	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, downstream transcript variant
rs1554094927	G>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Splice acceptor variant
rs1554094947	->TGGG	Pathogenic	Coding sequence variant, frameshift variant
rs1554137109	A>-	Likely-pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs1554137130	G>T	Likely-pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, splice donor variant, missense variant

254

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018675	hsa-miR-335-5p	Microarray	18185580
MIRT712960	hsa-miR-320e	HITS-CLIP	19536157
MIRT712959	hsa-miR-409-3p	HITS-CLIP	19536157
MIRT712958	hsa-miR-33a-3p	HITS-CLIP	19536157
MIRT712956	hsa-miR-6759-3p	HITS-CLIP	19536157
MIRT712957	hsa-miR-3152-3p	HITS-CLIP	19536157
MIRT712955	hsa-miR-4477a	HITS-CLIP	19536157
MIRT617913	hsa-miR-4506	HITS-CLIP	23824327
MIRT526788	hsa-miR-8063	HITS-CLIP	23824327
MIRT526787	hsa-miR-4698	HITS-CLIP	23824327
MIRT617912	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT617911	hsa-miR-5695	HITS-CLIP	23824327
MIRT617906	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT617905	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT617904	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT617903	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT526783	hsa-miR-607	HITS-CLIP	23824327
MIRT526782	hsa-miR-1305	HITS-CLIP	23824327
MIRT640450	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT526787	hsa-miR-4698	HITS-CLIP	23824327
MIRT617912	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT617911	hsa-miR-5695	HITS-CLIP	23824327
MIRT617910	hsa-miR-3199	HITS-CLIP	23824327
MIRT617909	hsa-miR-8052	HITS-CLIP	23824327
MIRT617908	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT617907	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT617906	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT617905	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT617904	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT617903	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT526783	hsa-miR-607	HITS-CLIP	23824327
MIRT526782	hsa-miR-1305	HITS-CLIP	23824327
MIRT526788	hsa-miR-8063	HITS-CLIP	23824327
MIRT526787	hsa-miR-4698	HITS-CLIP	23824327
MIRT526783	hsa-miR-607	HITS-CLIP	23824327
MIRT526782	hsa-miR-1305	HITS-CLIP	23824327
MIRT640450	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT617913	hsa-miR-4506	HITS-CLIP	23824327
MIRT526788	hsa-miR-8063	HITS-CLIP	23824327
MIRT526787	hsa-miR-4698	HITS-CLIP	23824327
MIRT617912	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT617911	hsa-miR-5695	HITS-CLIP	23824327
MIRT617910	hsa-miR-3199	HITS-CLIP	23824327
MIRT617909	hsa-miR-8052	HITS-CLIP	23824327
MIRT617908	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT617907	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT617906	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT617905	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT617904	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT617903	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT526783	hsa-miR-607	HITS-CLIP	23824327
MIRT526782	hsa-miR-1305	HITS-CLIP	23824327
MIRT526789	hsa-miR-4307	PAR-CLIP	22012620
MIRT526788	hsa-miR-8063	PAR-CLIP	22012620
MIRT526787	hsa-miR-4698	PAR-CLIP	22012620
MIRT526786	hsa-miR-627-3p	PAR-CLIP	22012620
MIRT526785	hsa-miR-6830-3p	PAR-CLIP	22012620
MIRT526784	hsa-miR-511-5p	PAR-CLIP	22012620
MIRT526783	hsa-miR-607	PAR-CLIP	22012620
MIRT526782	hsa-miR-1305	PAR-CLIP	22012620
MIRT442966	hsa-miR-5680	PAR-CLIP	22100165
MIRT442965	hsa-miR-10b-3p	PAR-CLIP	22100165
MIRT442964	hsa-miR-3617-5p	PAR-CLIP	22100165
MIRT442963	hsa-miR-641	PAR-CLIP	22100165
MIRT442962	hsa-miR-4761-5p	PAR-CLIP	22100165
MIRT442960	hsa-miR-5008-5p	PAR-CLIP	22100165
MIRT442961	hsa-miR-6089	PAR-CLIP	22100165
MIRT442959	hsa-miR-4480	PAR-CLIP	22100165
MIRT442958	hsa-miR-3926	PAR-CLIP	22100165
MIRT442957	hsa-miR-604	PAR-CLIP	22100165
MIRT442956	hsa-miR-6762-3p	PAR-CLIP	22100165
MIRT442955	hsa-miR-4316	PAR-CLIP	22100165
MIRT442954	hsa-miR-1294	PAR-CLIP	22100165
MIRT442953	hsa-miR-647	PAR-CLIP	22100165
MIRT526782	hsa-miR-1305	HITS-CLIP	27418678
MIRT640450	hsa-miR-335-3p	HITS-CLIP	27418678
MIRT617905	hsa-miR-515-5p	HITS-CLIP	27418678
MIRT617912	hsa-miR-519d-5p	HITS-CLIP	27418678
MIRT617904	hsa-miR-519e-5p	HITS-CLIP	27418678
MIRT617911	hsa-miR-5695	HITS-CLIP	27418678
MIRT526783	hsa-miR-607	HITS-CLIP	27418678
MIRT617906	hsa-miR-629-5p	HITS-CLIP	27418678
MIRT617903	hsa-miR-6839-3p	HITS-CLIP	27418678
MIRT526788	hsa-miR-8063	HITS-CLIP	27418678
MIRT712960	hsa-miR-320e	HITS-CLIP	19536157
MIRT712959	hsa-miR-409-3p	HITS-CLIP	19536157
MIRT712958	hsa-miR-33a-3p	HITS-CLIP	19536157
MIRT712956	hsa-miR-6759-3p	HITS-CLIP	19536157
MIRT712957	hsa-miR-3152-3p	HITS-CLIP	19536157
MIRT712955	hsa-miR-4477a	HITS-CLIP	19536157
MIRT617913	hsa-miR-4506	HITS-CLIP	23824327
MIRT526788	hsa-miR-8063	HITS-CLIP	23824327
MIRT526787	hsa-miR-4698	HITS-CLIP	23824327
MIRT617912	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT617911	hsa-miR-5695	HITS-CLIP	23824327
MIRT617906	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT617905	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT617904	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT617903	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT526783	hsa-miR-607	HITS-CLIP	23824327
MIRT526782	hsa-miR-1305	HITS-CLIP	23824327
MIRT640450	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT526787	hsa-miR-4698	HITS-CLIP	23824327
MIRT617912	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT617911	hsa-miR-5695	HITS-CLIP	23824327
MIRT617910	hsa-miR-3199	HITS-CLIP	23824327
MIRT617909	hsa-miR-8052	HITS-CLIP	23824327
MIRT617908	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT617907	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT617906	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT617905	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT617904	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT617903	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT526783	hsa-miR-607	HITS-CLIP	23824327
MIRT526782	hsa-miR-1305	HITS-CLIP	23824327
MIRT526788	hsa-miR-8063	HITS-CLIP	23824327
MIRT526787	hsa-miR-4698	HITS-CLIP	23824327
MIRT526783	hsa-miR-607	HITS-CLIP	23824327
MIRT526782	hsa-miR-1305	HITS-CLIP	23824327
MIRT640450	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT617913	hsa-miR-4506	HITS-CLIP	23824327
MIRT526788	hsa-miR-8063	HITS-CLIP	23824327
MIRT526787	hsa-miR-4698	HITS-CLIP	23824327
MIRT617912	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT617911	hsa-miR-5695	HITS-CLIP	23824327
MIRT617910	hsa-miR-3199	HITS-CLIP	23824327
MIRT617909	hsa-miR-8052	HITS-CLIP	23824327
MIRT617908	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT617907	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT617906	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT617905	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT617904	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT617903	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT526783	hsa-miR-607	HITS-CLIP	23824327
MIRT526782	hsa-miR-1305	HITS-CLIP	23824327
MIRT526789	hsa-miR-4307	PAR-CLIP	22012620
MIRT526788	hsa-miR-8063	PAR-CLIP	22012620
MIRT526787	hsa-miR-4698	PAR-CLIP	22012620
MIRT526786	hsa-miR-627-3p	PAR-CLIP	22012620
MIRT526785	hsa-miR-6830-3p	PAR-CLIP	22012620
MIRT526784	hsa-miR-511-5p	PAR-CLIP	22012620
MIRT526783	hsa-miR-607	PAR-CLIP	22012620
MIRT526782	hsa-miR-1305	PAR-CLIP	22012620
MIRT442966	hsa-miR-5680	PAR-CLIP	22100165
MIRT442965	hsa-miR-10b-3p	PAR-CLIP	22100165
MIRT442964	hsa-miR-3617-5p	PAR-CLIP	22100165
MIRT442963	hsa-miR-641	PAR-CLIP	22100165
MIRT442962	hsa-miR-4761-5p	PAR-CLIP	22100165
MIRT442960	hsa-miR-5008-5p	PAR-CLIP	22100165
MIRT442961	hsa-miR-6089	PAR-CLIP	22100165
MIRT442959	hsa-miR-4480	PAR-CLIP	22100165
MIRT442958	hsa-miR-3926	PAR-CLIP	22100165
MIRT442957	hsa-miR-604	PAR-CLIP	22100165
MIRT442956	hsa-miR-6762-3p	PAR-CLIP	22100165
MIRT442955	hsa-miR-4316	PAR-CLIP	22100165
MIRT442954	hsa-miR-1294	PAR-CLIP	22100165
MIRT442953	hsa-miR-647	PAR-CLIP	22100165
MIRT1342935	hsa-miR-1179	CLIP-seq
MIRT1342936	hsa-miR-1234	CLIP-seq
MIRT1342937	hsa-miR-1279	CLIP-seq
MIRT1342938	hsa-miR-1291	CLIP-seq
MIRT1342939	hsa-miR-1323	CLIP-seq
MIRT1342940	hsa-miR-140-3p	CLIP-seq
MIRT1342941	hsa-miR-142-5p	CLIP-seq
MIRT1342942	hsa-miR-146a	CLIP-seq
MIRT1342943	hsa-miR-146b-5p	CLIP-seq
MIRT1342944	hsa-miR-2054	CLIP-seq
MIRT1342945	hsa-miR-2110	CLIP-seq
MIRT1342946	hsa-miR-23a	CLIP-seq
MIRT1342947	hsa-miR-23b	CLIP-seq
MIRT1342948	hsa-miR-23c	CLIP-seq
MIRT1342949	hsa-miR-3140-3p	CLIP-seq
MIRT1342950	hsa-miR-3150a-3p	CLIP-seq
MIRT1342951	hsa-miR-3161	CLIP-seq
MIRT1342952	hsa-miR-3175	CLIP-seq
MIRT1342953	hsa-miR-328	CLIP-seq
MIRT1342954	hsa-miR-342-3p	CLIP-seq
MIRT1342955	hsa-miR-3653	CLIP-seq
MIRT1342956	hsa-miR-3663-5p	CLIP-seq
MIRT1342957	hsa-miR-3688-3p	CLIP-seq
MIRT1342958	hsa-miR-3914	CLIP-seq
MIRT1342959	hsa-miR-410	CLIP-seq
MIRT1342960	hsa-miR-4260	CLIP-seq
MIRT1342961	hsa-miR-4272	CLIP-seq
MIRT1342962	hsa-miR-4328	CLIP-seq
MIRT1342963	hsa-miR-4419a	CLIP-seq
MIRT1342964	hsa-miR-4422	CLIP-seq
MIRT1342965	hsa-miR-4434	CLIP-seq
MIRT1342966	hsa-miR-4510	CLIP-seq
MIRT1342967	hsa-miR-4516	CLIP-seq
MIRT1342968	hsa-miR-4711-5p	CLIP-seq
MIRT1342969	hsa-miR-4722-3p	CLIP-seq
MIRT1342970	hsa-miR-4731-3p	CLIP-seq
MIRT1342971	hsa-miR-4801	CLIP-seq
MIRT1342972	hsa-miR-5096	CLIP-seq
MIRT1342973	hsa-miR-548o	CLIP-seq
MIRT1342974	hsa-miR-561	CLIP-seq
MIRT1342975	hsa-miR-582-3p	CLIP-seq
MIRT1342976	hsa-miR-599	CLIP-seq
MIRT1342977	hsa-miR-617	CLIP-seq
MIRT1342978	hsa-miR-627	CLIP-seq
MIRT1342979	hsa-miR-924	CLIP-seq
MIRT1342980	hsa-miR-939	CLIP-seq
MIRT1342981	hsa-miR-944	CLIP-seq
MIRT1342982	hsa-miR-4658	CLIP-seq
MIRT1342983	hsa-miR-4758-5p	CLIP-seq
MIRT1342976	hsa-miR-599	CLIP-seq
MIRT1342984	hsa-miR-18a	CLIP-seq
MIRT1342985	hsa-miR-18b	CLIP-seq
MIRT1342986	hsa-miR-4477b	CLIP-seq
MIRT1342987	hsa-miR-4504	CLIP-seq
MIRT1342988	hsa-miR-4735-3p	CLIP-seq
MIRT1921717	hsa-miR-629	CLIP-seq
MIRT1921717	hsa-miR-629	CLIP-seq
MIRT2101365	hsa-miR-1208	CLIP-seq
MIRT2101366	hsa-miR-1245b-3p	CLIP-seq
MIRT2101367	hsa-miR-224	CLIP-seq
MIRT1342949	hsa-miR-3140-3p	CLIP-seq
MIRT2101368	hsa-miR-3672	CLIP-seq
MIRT2101369	hsa-miR-3942-3p	CLIP-seq
MIRT2101370	hsa-miR-4255	CLIP-seq
MIRT1342964	hsa-miR-4422	CLIP-seq
MIRT2101371	hsa-miR-4464	CLIP-seq
MIRT2101372	hsa-miR-4470	CLIP-seq
MIRT2101373	hsa-miR-4697-3p	CLIP-seq
MIRT2101374	hsa-miR-4748	CLIP-seq
MIRT2325761	hsa-miR-4282	CLIP-seq
MIRT2325762	hsa-miR-1236	CLIP-seq
MIRT2325763	hsa-miR-129-5p	CLIP-seq
MIRT2325764	hsa-miR-339-5p	CLIP-seq
MIRT2325765	hsa-miR-3650	CLIP-seq
MIRT1342958	hsa-miR-3914	CLIP-seq
MIRT2325766	hsa-miR-4474-3p	CLIP-seq
MIRT2325767	hsa-miR-450b-5p	CLIP-seq
MIRT2325768	hsa-miR-452	CLIP-seq
MIRT2325769	hsa-miR-4676-3p	CLIP-seq
MIRT2325770	hsa-miR-4687-3p	CLIP-seq
MIRT2325771	hsa-miR-4778-5p	CLIP-seq
MIRT2325772	hsa-miR-4792	CLIP-seq
MIRT2325773	hsa-miR-507	CLIP-seq
MIRT2325774	hsa-miR-557	CLIP-seq
MIRT2325775	hsa-miR-644	CLIP-seq
MIRT2621536	hsa-miR-140-5p	CLIP-seq
MIRT2621537	hsa-miR-3164	CLIP-seq
MIRT2621538	hsa-miR-3545-5p	CLIP-seq
MIRT2621539	hsa-miR-4424	CLIP-seq
MIRT2621540	hsa-miR-4433	CLIP-seq
MIRT2621541	hsa-miR-4459	CLIP-seq
MIRT2621542	hsa-miR-4460	CLIP-seq
MIRT2621543	hsa-miR-4653-3p	CLIP-seq
MIRT2621544	hsa-miR-4768-3p	CLIP-seq
MIRT1342939	hsa-miR-1323	CLIP-seq
MIRT1342961	hsa-miR-4272	CLIP-seq
MIRT1342973	hsa-miR-548o	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0003015	Process	Heart process	IEA
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	8842738
GO:0007517	Process	Muscle organ development	TAS	8841194, 8842738
GO:0016010	Component	Dystrophin-associated glycoprotein complex	IDA	17993586
GO:0016011	Component	Dystroglycan complex	IEA
GO:0016012	Component	Sarcoglycan complex	IBA
GO:0016012	Component	Sarcoglycan complex	IEA
GO:0016012	Component	Sarcoglycan complex	TAS	8841194
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0031503	Process	Protein-containing complex localization	IEA
GO:0042383	Component	Sarcolemma	IBA
GO:0042383	Component	Sarcolemma	IEA
GO:0048738	Process	Cardiac muscle tissue development	IBA
GO:0055013	Process	Cardiac muscle cell development	IEA
GO:0055074	Process	Calcium ion homeostasis	IEA
GO:0060047	Process	Heart contraction	IBA
GO:0060048	Process	Cardiac muscle contraction	IEA
GO:0060977	Process	Coronary vasculature morphogenesis	IEA
GO:0086003	Process	Cardiac muscle cell contraction	IEA

MIM	HGNC	e!Ensembl
601411	10807	ENSG00000170624

Q92629

Protein name

Delta-sarcoglycan (Delta-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	23 → 278	Sarcoglycan complex subunit protein	Family

Tissue specificity

TISSUE SPECIFICITY: Most strongly expressed in skeletal and cardiac muscle. Also detected in smooth muscle. Weak expression in brain and lung.

Sequence

MPQEQYTHHRSTMPGSVGPQVYKVGIYGWRKRCLYFFVLLLMILILVNLAMTIWILKVMN
FTIDGMGNLRITEKGLKLEGDSEFLQPLYAKEIQSRPGNALYFKSARNVTVNILNDQTKV
LTQLITGPKAVEAYGKKFEVKTVSGKLLFSADNNEVVVGAERLRVLGAEGTVFPKSIETP
NVRADPFKELRLESPTRSLVMEAPKGVEINAEAGNMEATCRTELRLESKDGEIKLDAAKI
RLPRLPHGSYTPTGTRQKVFEICVCANGRLFLSQAGAGSTCQINTSVCL

Sequence length

289

Interactions

View interactions

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

1232

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	Likely pathogenic; Pathogenic	rs2113389287, rs1412814368	RCV001814423 RCV001814430
Autosomal recessive limb-girdle muscular dystrophy	Pathogenic	rs758700138, rs121909295	RCV004999675 RCV004998079
Autosomal recessive limb-girdle muscular dystrophy type 2F	Likely pathogenic; Pathogenic	rs1768838504, rs2113389536, rs778760498, rs2113176852, rs758700138, rs727503422, rs2479930880, rs2481653253, rs1554094927, rs2480248711, rs1369919728, rs121909295, rs121909296, rs121909297, rs267607045 View all (15 more)	RCV001970160 RCV001884710 RCV002007476 RCV002008218 RCV003619756 RCV000673416 RCV002309402 RCV002750750 RCV002750096 RCV002863298 RCV000008649 RCV000008650 RCV000008651 RCV000008652 RCV000008656 RCV003619667 RCV005100224 RCV003510831 RCV003509207 RCV003510145 RCV003620788 RCV003621070 RCV003870535 RCV000475393 RCV000666012 RCV000669132 RCV000674428 RCV000673150 RCV000707487 RCV002513585 RCV001217240
Dilated cardiomyopathy 1L	Likely pathogenic; Pathogenic	rs1768838504, rs778760498, rs758700138, rs727503422, rs1369919728, rs121909295, rs121909297, rs2479930998, rs2480247821, rs2480210250, rs1760870278, rs1554137130, rs2481652194, rs1561743757, rs1267810339 View all (4 more)	RCV005032008 RCV002497864 RCV003475307 RCV000673416 RCV004566696 RCV000664788 RCV004566697 RCV003472688 RCV003472689 RCV003472690 RCV003472691 RCV003472692 RCV003472693 RCV004574070 RCV000666012 RCV000669132 RCV000674428 RCV000673150 RCV003472252 RCV003473768
Neuromuscular disease	Likely pathogenic; Pathogenic	rs727503422, rs397517921	RCV000151871 RCV000041405

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cardiomyopathy	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs1159364901, rs372152495, rs200476861, rs549319429, rs190935424, rs368838376, rs193922392, rs11748588, rs578056399, rs200757725, rs74846539, rs10071079	RCV001799074 RCV000770204 RCV000852562 RCV001170139 RCV000770206 RCV000770208 RCV000030450 RCV000030451 RCV001170140 RCV000770209 RCV000770205 RCV000770207
Cardiovascular phenotype	Benign; Likely benign	rs45559835	RCV000621073
Cervical cancer	Likely benign	rs115591356	RCV005917573
Cholangiocarcinoma	Benign; Likely benign	rs56389540	RCV005898961
Dilated cardiomyopathy 1A	Uncertain significance	rs376317697	RCV001256961
Dilated Cardiomyopathy, Dominant	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs886060314, rs397736317, rs556887176, rs886060315, rs886060317, rs370327314, rs527436848, rs886060303, rs528794571, rs886060312, rs57240389	RCV000323021 RCV000330927 RCV000325403 RCV000400948 RCV000305178 RCV000376134 RCV000306269 RCV000321355 RCV000280506 RCV000362963 RCV000385802 RCV000343913 RCV000299383 RCV000335158
Familial cancer of breast	Conflicting classifications of pathogenicity; Likely benign	rs200670993, rs200386436	RCV005890247 RCV005903980
Hypertrophic cardiomyopathy 1	Conflicting classifications of pathogenicity	rs397516338	RCV000584814
Limb-girdle muscular dystrophy, recessive	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs192662989, rs727503419, rs549319429, rs377153196, rs886060289, rs543082767, rs886060293, rs886060296, rs72803042, rs56293630, rs886060297, rs148505840, rs72803044, rs397841758, rs74717343 View all (119 more)	RCV000374031 RCV000350187 RCV000331989 RCV000402808 RCV000304754 RCV000330276 RCV000291513 RCV000329030 RCV000344567 RCV000267356 RCV000358524 RCV000388482 RCV000331255 RCV000379082 RCV000354046 RCV000264232 RCV000278348 RCV000310324 RCV000275175 RCV000337158 RCV000305457 RCV000269279 RCV000330388 RCV000364351 RCV000365483 RCV000314442 RCV000356912 RCV000267955 RCV000366650 RCV000386167 RCV000308782 RCV000368098 RCV000280885 RCV000347739 RCV000367419 RCV000321589 RCV000299041 RCV000387821 RCV000341557 RCV000303253 RCV000339243 RCV000283820 RCV000308245 RCV000318267 RCV000268223 RCV000281162 RCV000306804 RCV000393849 RCV000321825 RCV000382359 RCV000285058 RCV000379088 RCV000351783 RCV000296531 RCV000280509 RCV000393079 RCV000352458 RCV000359809 RCV000339695 RCV000341777 RCV000260655 RCV000292058 RCV000295374 RCV000270761 RCV000272019 RCV000322691 RCV000321868 RCV000293360 RCV000287560 RCV000374429 RCV000403268 RCV000350342 RCV000263122 RCV000392017 RCV000402919 RCV000378289 RCV000329370 RCV000351507 RCV000371014 RCV000263740 RCV000392055 RCV000283459 RCV000321705 RCV000315697 RCV000267484 RCV000384392 RCV000334289 RCV000311536 RCV000274621 RCV000287018 RCV000282447 RCV000267801 RCV000319500 RCV000263410 RCV000333984 RCV000296915 RCV000405625 RCV000277743 RCV000273965 RCV000340581 RCV000402986 RCV000356322 RCV000382766 RCV000304311 RCV000340348 RCV000278415 RCV000315351 RCV000403925 RCV000333659 RCV000393153 RCV000270692 RCV000285132 RCV000307163 RCV000268282 RCV000325298 RCV000403998 RCV000317487 RCV000372095 RCV000288894 RCV000349516 RCV000387076 RCV000358834 RCV000298864 RCV000278707 RCV000338472 RCV000314030 RCV000267005 RCV000303035 RCV000370209 RCV000404763 RCV000309227 RCV000344278 RCV000354555 RCV000299902 RCV000395779 RCV000379606 RCV000326284
Malignant tumor of esophagus	Benign; Likely benign	rs56389540	RCV005898956
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC	Uncertain significance	rs121909298	RCV000681610
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs150418759, rs80115276, rs56389540	RCV005898963 RCV005898964 RCV005898958
Primary dilated cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs376317697, rs752548592, rs397516338, rs1187720404	RCV000211472 RCV000211553 RCV001293129 RCV001093560
Primary familial dilated cardiomyopathy	Uncertain significance	rs1320640424	RCV000845425
Qualitative or quantitative defects of delta-sarcoglycan	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs192662989, rs727503419, rs184722381, rs200476861, rs549319429, rs377153196, rs886060289, rs543082767, rs886060293, rs886060296, rs72803042, rs56293630, rs886060297, rs148505840, rs72803044 View all (193 more)	RCV000259421 RCV000292947 RCV001153631 RCV001156233 RCV000389000 RCV000370991 RCV000260017 RCV000387448 RCV000346426 RCV000383657 RCV000289339 RCV000296838 RCV000273193 RCV000333865 RCV000276204 RCV000284709 RCV000262654 RCV000361306 RCV000375243 RCV000406379 RCV000299830 RCV000293828 RCV000265827 RCV000366225 RCV000281317 RCV000310855 RCV000275368 RCV000369134 RCV000297290 RCV000381368 RCV000325965 RCV000331911 RCV000364096 RCV000333191 RCV000321963 RCV000400732 RCV000391937 RCV000378458 RCV000337671 RCV000295718 RCV000391574 RCV000360360 RCV000406535 RCV000347033 RCV000366479 RCV000353705 RCV000323408 RCV000348825 RCV000364846 RCV000350234 RCV000364800 RCV000294484 RCV000377168 RCV000317631 RCV000393816 RCV000388484 RCV000338712 RCV000340162 RCV000292932 RCV000269904 RCV000304725 RCV000376616 RCV000299465 RCV000387547 RCV000400278 RCV000362878 RCV000329477 RCV000283924 RCV000360302 RCV000350581 RCV000344912 RCV000315995 RCV000370315 RCV000295378 RCV000385734 RCV000290582 RCV000311861 RCV000268630 RCV000381671 RCV000289607 RCV000274244 RCV000316654 RCV000367479 RCV000378038 RCV000262120 RCV000260484 RCV000381935 RCV000273600 RCV000372687 RCV000391572 RCV000319139 RCV000403474 RCV000392260 RCV000315926 RCV000385754 RCV000298635 RCV000289713 RCV000341281 RCV000335543 RCV000332738 RCV000319746 RCV000379829 RCV000367138 RCV000404058 RCV000269426 RCV000336167 RCV000406142 RCV000372864 RCV000390719 RCV000353696 RCV000293767 RCV000302302 RCV000313979 RCV000373644 RCV000392083 RCV000383291 RCV000291345 RCV000354396 RCV000276711 RCV000318555 RCV000379151 RCV000308723 RCV000291705 RCV000264003 RCV000391219 RCV000333002 RCV000398806 RCV000354863 RCV000359355 RCV000398679 RCV001152445 RCV001156234 RCV000326043 RCV001152446 RCV001156232 RCV000365095 RCV000406070 RCV000404413 RCV001153629 RCV001152344 RCV000262050 RCV001156235 RCV000334932 RCV000357029 RCV000278176 RCV000383249 RCV001153630 RCV001157912 RCV001157913 RCV001153718 RCV001153719 RCV001153720 RCV001156332 RCV001156333 RCV001156334 RCV001158000 RCV001158001 RCV001158002 RCV001158003 RCV001158004 RCV001152528 RCV001152529 RCV001152530 RCV001152531 RCV001153817 RCV001153818 RCV001153819 RCV001153820 RCV001153821 RCV001153822 RCV001153823 RCV001153824 RCV001156446 RCV001156447 RCV001158105 RCV001158106 RCV001158107 RCV001158108 RCV001152641 RCV001154780 RCV001158225 RCV001158226 RCV001158227 RCV001158228 RCV001152746 RCV001154025 RCV001154026 RCV001154027 RCV001154866 RCV001154867 RCV001156542 RCV001156543 RCV001156544 RCV001156545 RCV001156546 RCV001152862 RCV001152863 RCV001152864 RCV001152865 RCV001154142 RCV001154143 RCV001154144 RCV001156647 RCV001151178 RCV001151179 RCV001151180 RCV001151181 RCV001151182 RCV001151183 RCV001151184 RCV001154249 RCV001154250 RCV001152444
Sarcoma	Benign; Likely benign	rs56389540	RCV005898957
SGCD-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs776098396, rs372152495, rs200451694, rs1768843843, rs1357273041, rs368838376, rs780744816, rs138491950, rs551882107, rs2481560485, rs397516338, rs10071079, rs180898690, rs751421543, rs778303434	RCV003416292 RCV003915272 RCV003967752 RCV003406208 RCV003946723 RCV003970028 RCV003894068 RCV003977321 RCV003904745 RCV003917064 RCV003917362 RCV003944896 RCV003924987 RCV004754288 RCV004754573 RCV003908133
Thymoma	Benign; Likely benign	rs56389540	RCV005898960
Uterine carcinosarcoma	Benign; Likely benign	rs56389540, rs10071079, rs200386436	RCV005898959 RCV005890248 RCV005903981
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs56389540	RCV005898962

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Apical Hypertrophic Cardiomyopathy	Associate	26720722
Bipolar Disorder	Associate	20132317
Cardiomyopathies	Associate	19259135, 26720722, 36270459
Cardiomyopathy Dilated	Associate	10974018, 19259135, 26720722, 31024045
Cardiomyopathy Hypertrophic	Associate	17652892, 22524166
Charcot Marie Tooth disease Type 2F	Associate	24565866
Coronary Aneurysm	Associate	17652892
Coronary Vasospasm	Associate	17652892, 22524166
Diabetes Mellitus Type 2	Associate	30938105
familial dilated cardiomyopathy	Associate	10974018
Gastroschisis	Associate	32163230
Genetic Diseases Inborn	Associate	26720722
Glycogen Storage Disease Type II	Associate	31931849
Hypertrophy	Associate	26720722
Job Syndrome	Associate	29901616
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	30938105
Limb girdle muscular dystrophy autosomal recessive	Associate	9032047
Limb girdle muscular dystrophy type 2C	Associate	10807695
Limb girdle muscular dystrophy type 2F	Associate	39336735, 8943294, 9832045
Lymphedema Congenital Recessive	Associate	31931849
Macular Degeneration	Associate	19412524
Muscular Atrophy	Associate	29351619
Muscular Diseases	Associate	25474115
Muscular Dystrophies	Associate	19835634
Muscular Dystrophies Limb Girdle	Associate	16100969, 19259135, 24565866, 8943294
Muscular Dystrophy Duchenne	Associate	29901616, 38057384
Prostatic Neoplasms	Associate	30938105
Retinal Dystrophies	Associate	29351619
Sarcoglycanopathies	Associate	18535179, 30764848, 30989758, 9832045
Sarcoglycanopathies	Inhibit	39755676
Sarcoglycanopathies	Stimulate	9429136
Scimitar Syndrome	Associate	28412737
Sleep Apnea Obstructive	Associate	25474115
Stomach Neoplasms	Associate	35789544

SGCD (sarcoglycan delta)