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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6444
Gene name Gene Name - the full gene name approved by the HGNC.	Sarcoglycan delta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SGCD
Synonyms (NCBI Gene) Gene synonyms aliases	35DAG, CMD1L, DAGD, LGMDR6, SG-delta, SGCDP, SGD
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q33.2-q33.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

Protein

UniProt ID

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

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Dilated Cardiomyopathy	Dilated cardiomyopathy 1L	rs1369919728, rs121909295, rs1554094927, rs121909297	N/A
Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy	rs267607045, rs397517921, rs727503422, rs1369919728, rs886043031, rs1554094947, rs121909295, rs1267810339, rs1554094927, rs121909296, rs121909297	N/A

Show/Hide Unknown Diseases (11)

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.
Breast Cancer	Postmenopausal breast cancer	N/A	N/A	GWAS
cardiomyopathy	Cardiomyopathy	N/A	N/A	ClinVar
Cardiomyopathy	Primary familial dilated cardiomyopathy, Primary dilated cardiomyopathy	N/A	N/A	ClinVar
Colorectal Cancer	Metastasis in stage I-III microsatellite instability low/stable colorectal cancer (time to event)	N/A	N/A	GWAS
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Dyslexia	Dyslexia	N/A	N/A	GWAS
Hypertension	Hypertension	N/A	N/A	GWAS
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy 1	N/A	N/A	ClinVar
Schizophrenia	Schizophrenia	N/A	N/A	GWAS
Strabismus	Strabismus	N/A	N/A	GWAS

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)