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	6443
Gene name	Sarcoglycan beta
Gene symbol	SGCB
Synonyms (NCBI Gene)	A3bLGMD2ELGMDR4SGC
Chromosome	4
Chromosome location	4q12
Summary	This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations

Show/Hide all (42)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28936383	G>C	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs104893868	A>C	Likely-pathogenic	Stop gained, coding sequence variant
rs104893869	C>A,G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs104893870	A>C	Pathogenic	Missense variant, coding sequence variant
rs104893871	A>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs142801720	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs149121189	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs150518260	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs371706268	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs398123262	T>C	Pathogenic	Missense variant, initiator codon variant
rs398123263	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs555514820	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs747809412	T>A	Likely-pathogenic	Coding sequence variant, stop gained
rs748602445	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs752492870	G>A,C	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs762114570	TTCA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs762831481	AA>-,A,AAA	Conflicting-interpretations-of-pathogenicity	Intron variant
rs775458201	TT>-,T	Pathogenic	Coding sequence variant, frameshift variant
rs780596734	T>C	Likely-pathogenic	Splice acceptor variant
rs796065319	->T	Pathogenic	Frameshift variant, coding sequence variant
rs886042503	AT>-	Pathogenic, likely-pathogenic	Frameshift variant, initiator codon variant
rs886042546	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs936193061	C>T	Likely-pathogenic	Intron variant
rs998759536	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1013015106	G>A	Pathogenic	Coding sequence variant, stop gained
rs1057516360	ACAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516515	GAAT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517051	TA>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1057517064	TTCTG>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1057517205	ATCTTCCCGCGCCCGCCGCCGCC>-	Likely-pathogenic	5 prime UTR variant, initiator codon variant, frameshift variant
rs1264362642	C>A,T	Likely-pathogenic	Splice donor variant
rs1448040082	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1553940079	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553940262	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1553940274	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553940661	A>C	Likely-pathogenic	Splice donor variant
rs1553940663	C>A	Likely-pathogenic	Splice donor variant
rs1553940687	CTCTC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553940957	C>T	Likely-pathogenic	Splice donor variant
rs1553940963	->CTGCCGCCATCTTCCCGCGCCCGCCGCCGCCG	Uncertain-significance, pathogenic	5 prime UTR variant, frameshift variant, initiator codon variant
rs1578125670	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1578126090	AA>-	Pathogenic	Coding sequence variant, frameshift variant

634

Show/Hide all (634)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016183	hsa-miR-590-3p	Sequencing	20371350
MIRT024317	hsa-miR-215-5p	Microarray	19074876
MIRT026183	hsa-miR-192-5p	Microarray	19074876
MIRT030684	hsa-miR-21-5p	Microarray	18591254
MIRT1342814	hsa-let-7a	CLIP-seq
MIRT1342815	hsa-let-7b	CLIP-seq
MIRT1342816	hsa-let-7c	CLIP-seq
MIRT1342817	hsa-let-7d	CLIP-seq
MIRT1342818	hsa-let-7e	CLIP-seq
MIRT1342819	hsa-let-7f	CLIP-seq
MIRT1342820	hsa-let-7g	CLIP-seq
MIRT1342821	hsa-let-7i	CLIP-seq
MIRT1342822	hsa-miR-1206	CLIP-seq
MIRT1342823	hsa-miR-1228	CLIP-seq
MIRT1342824	hsa-miR-1258	CLIP-seq
MIRT1342825	hsa-miR-125a-5p	CLIP-seq
MIRT1342826	hsa-miR-125b	CLIP-seq
MIRT1342827	hsa-miR-1275	CLIP-seq
MIRT1342828	hsa-miR-1291	CLIP-seq
MIRT1342829	hsa-miR-130a	CLIP-seq
MIRT1342830	hsa-miR-130b	CLIP-seq
MIRT1342831	hsa-miR-133a	CLIP-seq
MIRT1342832	hsa-miR-133b	CLIP-seq
MIRT1342833	hsa-miR-146b-3p	CLIP-seq
MIRT1342834	hsa-miR-148a	CLIP-seq
MIRT1342835	hsa-miR-148b	CLIP-seq
MIRT1342836	hsa-miR-152	CLIP-seq
MIRT1342837	hsa-miR-1825	CLIP-seq
MIRT1342838	hsa-miR-1827	CLIP-seq
MIRT1342839	hsa-miR-1915	CLIP-seq
MIRT1342840	hsa-miR-193a-5p	CLIP-seq
MIRT1342841	hsa-miR-196a	CLIP-seq
MIRT1342842	hsa-miR-196b	CLIP-seq
MIRT1342843	hsa-miR-202	CLIP-seq
MIRT1342844	hsa-miR-2114	CLIP-seq
MIRT1342845	hsa-miR-219-1-3p	CLIP-seq
MIRT1342846	hsa-miR-224	CLIP-seq
MIRT1342847	hsa-miR-24	CLIP-seq
MIRT1342848	hsa-miR-2467-3p	CLIP-seq
MIRT1342849	hsa-miR-301a	CLIP-seq
MIRT1342850	hsa-miR-301b	CLIP-seq
MIRT1342851	hsa-miR-3122	CLIP-seq
MIRT1342852	hsa-miR-3126-3p	CLIP-seq
MIRT1342853	hsa-miR-3147	CLIP-seq
MIRT1342854	hsa-miR-3152-3p	CLIP-seq
MIRT1342855	hsa-miR-3153	CLIP-seq
MIRT1342856	hsa-miR-3165	CLIP-seq
MIRT1342857	hsa-miR-3192	CLIP-seq
MIRT1342858	hsa-miR-331-5p	CLIP-seq
MIRT1342859	hsa-miR-335	CLIP-seq
MIRT1342860	hsa-miR-339-5p	CLIP-seq
MIRT1342861	hsa-miR-342-3p	CLIP-seq
MIRT1342862	hsa-miR-3612	CLIP-seq
MIRT1342863	hsa-miR-3660	CLIP-seq
MIRT1342864	hsa-miR-3666	CLIP-seq
MIRT1342865	hsa-miR-3671	CLIP-seq
MIRT1342866	hsa-miR-3672	CLIP-seq
MIRT1342867	hsa-miR-3689a-3p	CLIP-seq
MIRT1342868	hsa-miR-3689c	CLIP-seq
MIRT1342869	hsa-miR-3714	CLIP-seq
MIRT1342870	hsa-miR-375	CLIP-seq
MIRT1342871	hsa-miR-3913-5p	CLIP-seq
MIRT1342872	hsa-miR-3926	CLIP-seq
MIRT1342873	hsa-miR-3927	CLIP-seq
MIRT1342874	hsa-miR-3929	CLIP-seq
MIRT1342875	hsa-miR-4257	CLIP-seq
MIRT1342876	hsa-miR-4284	CLIP-seq
MIRT1342877	hsa-miR-4295	CLIP-seq
MIRT1342878	hsa-miR-4299	CLIP-seq
MIRT1342879	hsa-miR-4310	CLIP-seq
MIRT1342880	hsa-miR-4314	CLIP-seq
MIRT1342881	hsa-miR-4319	CLIP-seq
MIRT1342882	hsa-miR-4419b	CLIP-seq
MIRT1342883	hsa-miR-4425	CLIP-seq
MIRT1342884	hsa-miR-4456	CLIP-seq
MIRT1342885	hsa-miR-4458	CLIP-seq
MIRT1342886	hsa-miR-4461	CLIP-seq
MIRT1342887	hsa-miR-4478	CLIP-seq
MIRT1342888	hsa-miR-4488	CLIP-seq
MIRT1342889	hsa-miR-4500	CLIP-seq
MIRT1342890	hsa-miR-4514	CLIP-seq
MIRT1342891	hsa-miR-4526	CLIP-seq
MIRT1342892	hsa-miR-4537	CLIP-seq
MIRT1342893	hsa-miR-454	CLIP-seq
MIRT1342894	hsa-miR-4649-3p	CLIP-seq
MIRT1342895	hsa-miR-4659a-3p	CLIP-seq
MIRT1342896	hsa-miR-4659b-3p	CLIP-seq
MIRT1342897	hsa-miR-4665-5p	CLIP-seq
MIRT1342898	hsa-miR-4668-5p	CLIP-seq
MIRT1342899	hsa-miR-4692	CLIP-seq
MIRT1342900	hsa-miR-4697-5p	CLIP-seq
MIRT1342901	hsa-miR-4699-5p	CLIP-seq
MIRT1342902	hsa-miR-4722-5p	CLIP-seq
MIRT1342903	hsa-miR-4726-3p	CLIP-seq
MIRT1342904	hsa-miR-4728-5p	CLIP-seq
MIRT1342905	hsa-miR-4729	CLIP-seq
MIRT1342906	hsa-miR-4732-3p	CLIP-seq
MIRT1342907	hsa-miR-4738-3p	CLIP-seq
MIRT1342908	hsa-miR-4755-3p	CLIP-seq
MIRT1342909	hsa-miR-4768-3p	CLIP-seq
MIRT1342910	hsa-miR-4777-5p	CLIP-seq
MIRT1342911	hsa-miR-4778-5p	CLIP-seq
MIRT1342912	hsa-miR-4786-5p	CLIP-seq
MIRT1342913	hsa-miR-4793-5p	CLIP-seq
MIRT1342914	hsa-miR-485-5p	CLIP-seq
MIRT1342915	hsa-miR-490-3p	CLIP-seq
MIRT1342916	hsa-miR-509-3p	CLIP-seq
MIRT1342917	hsa-miR-518d-5p	CLIP-seq
MIRT1342918	hsa-miR-519b-5p	CLIP-seq
MIRT1342919	hsa-miR-519c-5p	CLIP-seq
MIRT1342920	hsa-miR-520c-5p	CLIP-seq
MIRT1342921	hsa-miR-520d-5p	CLIP-seq
MIRT1342922	hsa-miR-524-5p	CLIP-seq
MIRT1342923	hsa-miR-526a	CLIP-seq
MIRT1342924	hsa-miR-548an	CLIP-seq
MIRT1342925	hsa-miR-548q	CLIP-seq
MIRT1342926	hsa-miR-548s	CLIP-seq
MIRT1342927	hsa-miR-571	CLIP-seq
MIRT1342928	hsa-miR-579	CLIP-seq
MIRT1342929	hsa-miR-628-5p	CLIP-seq
MIRT1342930	hsa-miR-650	CLIP-seq
MIRT1342931	hsa-miR-670	CLIP-seq
MIRT1342932	hsa-miR-769-5p	CLIP-seq
MIRT1342933	hsa-miR-940	CLIP-seq
MIRT1342934	hsa-miR-98	CLIP-seq
MIRT1342838	hsa-miR-1827	CLIP-seq
MIRT1342867	hsa-miR-3689a-3p	CLIP-seq
MIRT1342868	hsa-miR-3689c	CLIP-seq
MIRT1342902	hsa-miR-4722-5p	CLIP-seq
MIRT1342904	hsa-miR-4728-5p	CLIP-seq
MIRT1342909	hsa-miR-4768-3p	CLIP-seq
MIRT1342814	hsa-let-7a	CLIP-seq
MIRT1342815	hsa-let-7b	CLIP-seq
MIRT1342816	hsa-let-7c	CLIP-seq
MIRT1342817	hsa-let-7d	CLIP-seq
MIRT1342818	hsa-let-7e	CLIP-seq
MIRT1342819	hsa-let-7f	CLIP-seq
MIRT1342820	hsa-let-7g	CLIP-seq
MIRT1342821	hsa-let-7i	CLIP-seq
MIRT2101352	hsa-miR-1227	CLIP-seq
MIRT1342823	hsa-miR-1228	CLIP-seq
MIRT2101353	hsa-miR-1273	CLIP-seq
MIRT1342838	hsa-miR-1827	CLIP-seq
MIRT1342839	hsa-miR-1915	CLIP-seq
MIRT1342843	hsa-miR-202	CLIP-seq
MIRT1342844	hsa-miR-2114	CLIP-seq
MIRT1342848	hsa-miR-2467-3p	CLIP-seq
MIRT1342851	hsa-miR-3122	CLIP-seq
MIRT2101354	hsa-miR-3133	CLIP-seq
MIRT1342853	hsa-miR-3147	CLIP-seq
MIRT1342855	hsa-miR-3153	CLIP-seq
MIRT1342857	hsa-miR-3192	CLIP-seq
MIRT1342859	hsa-miR-335	CLIP-seq
MIRT1342862	hsa-miR-3612	CLIP-seq
MIRT1342866	hsa-miR-3672	CLIP-seq
MIRT1342867	hsa-miR-3689a-3p	CLIP-seq
MIRT1342868	hsa-miR-3689c	CLIP-seq
MIRT1342869	hsa-miR-3714	CLIP-seq
MIRT1342871	hsa-miR-3913-5p	CLIP-seq
MIRT1342872	hsa-miR-3926	CLIP-seq
MIRT1342874	hsa-miR-3929	CLIP-seq
MIRT2101355	hsa-miR-4252	CLIP-seq
MIRT1342875	hsa-miR-4257	CLIP-seq
MIRT1342882	hsa-miR-4419b	CLIP-seq
MIRT1342883	hsa-miR-4425	CLIP-seq
MIRT1342885	hsa-miR-4458	CLIP-seq
MIRT1342886	hsa-miR-4461	CLIP-seq
MIRT2101356	hsa-miR-4464	CLIP-seq
MIRT1342887	hsa-miR-4478	CLIP-seq
MIRT1342889	hsa-miR-4500	CLIP-seq
MIRT2101357	hsa-miR-4511	CLIP-seq
MIRT1342890	hsa-miR-4514	CLIP-seq
MIRT1342892	hsa-miR-4537	CLIP-seq
MIRT1342894	hsa-miR-4649-3p	CLIP-seq
MIRT1342898	hsa-miR-4668-5p	CLIP-seq
MIRT1342899	hsa-miR-4692	CLIP-seq
MIRT1342902	hsa-miR-4722-5p	CLIP-seq
MIRT1342903	hsa-miR-4726-3p	CLIP-seq
MIRT1342904	hsa-miR-4728-5p	CLIP-seq
MIRT1342907	hsa-miR-4738-3p	CLIP-seq
MIRT2101358	hsa-miR-4748	CLIP-seq
MIRT1342909	hsa-miR-4768-3p	CLIP-seq
MIRT1342912	hsa-miR-4786-5p	CLIP-seq
MIRT2101359	hsa-miR-4793-3p	CLIP-seq
MIRT1342913	hsa-miR-4793-5p	CLIP-seq
MIRT1342914	hsa-miR-485-5p	CLIP-seq
MIRT1342915	hsa-miR-490-3p	CLIP-seq
MIRT2101360	hsa-miR-508-5p	CLIP-seq
MIRT1342926	hsa-miR-548s	CLIP-seq
MIRT2101361	hsa-miR-582-5p	CLIP-seq
MIRT2101362	hsa-miR-600	CLIP-seq
MIRT2101363	hsa-miR-627	CLIP-seq
MIRT1342930	hsa-miR-650	CLIP-seq
MIRT2101364	hsa-miR-766	CLIP-seq
MIRT1342932	hsa-miR-769-5p	CLIP-seq
MIRT1342933	hsa-miR-940	CLIP-seq
MIRT1342934	hsa-miR-98	CLIP-seq
MIRT1342814	hsa-let-7a	CLIP-seq
MIRT1342815	hsa-let-7b	CLIP-seq
MIRT1342816	hsa-let-7c	CLIP-seq
MIRT1342817	hsa-let-7d	CLIP-seq
MIRT1342818	hsa-let-7e	CLIP-seq
MIRT1342819	hsa-let-7f	CLIP-seq
MIRT1342820	hsa-let-7g	CLIP-seq
MIRT1342821	hsa-let-7i	CLIP-seq
MIRT1342823	hsa-miR-1228	CLIP-seq
MIRT1342829	hsa-miR-130a	CLIP-seq
MIRT1342830	hsa-miR-130b	CLIP-seq
MIRT2325754	hsa-miR-1323	CLIP-seq
MIRT1342831	hsa-miR-133a	CLIP-seq
MIRT1342832	hsa-miR-133b	CLIP-seq
MIRT1342834	hsa-miR-148a	CLIP-seq
MIRT1342835	hsa-miR-148b	CLIP-seq
MIRT1342836	hsa-miR-152	CLIP-seq
MIRT1342837	hsa-miR-1825	CLIP-seq
MIRT1342838	hsa-miR-1827	CLIP-seq
MIRT1342839	hsa-miR-1915	CLIP-seq
MIRT2325755	hsa-miR-199a-5p	CLIP-seq
MIRT2325756	hsa-miR-199b-5p	CLIP-seq
MIRT2325757	hsa-miR-19a	CLIP-seq
MIRT2325758	hsa-miR-19b	CLIP-seq
MIRT1342843	hsa-miR-202	CLIP-seq
MIRT1342844	hsa-miR-2114	CLIP-seq
MIRT1342847	hsa-miR-24	CLIP-seq
MIRT1342848	hsa-miR-2467-3p	CLIP-seq
MIRT1342849	hsa-miR-301a	CLIP-seq
MIRT1342850	hsa-miR-301b	CLIP-seq
MIRT1342851	hsa-miR-3122	CLIP-seq
MIRT1342853	hsa-miR-3147	CLIP-seq
MIRT1342855	hsa-miR-3153	CLIP-seq
MIRT1342857	hsa-miR-3192	CLIP-seq
MIRT1342861	hsa-miR-342-3p	CLIP-seq
MIRT1342862	hsa-miR-3612	CLIP-seq
MIRT1342864	hsa-miR-3666	CLIP-seq
MIRT1342867	hsa-miR-3689a-3p	CLIP-seq
MIRT1342868	hsa-miR-3689c	CLIP-seq
MIRT1342869	hsa-miR-3714	CLIP-seq
MIRT1342871	hsa-miR-3913-5p	CLIP-seq
MIRT1342874	hsa-miR-3929	CLIP-seq
MIRT1342875	hsa-miR-4257	CLIP-seq
MIRT1342876	hsa-miR-4284	CLIP-seq
MIRT1342877	hsa-miR-4295	CLIP-seq
MIRT1342882	hsa-miR-4419b	CLIP-seq
MIRT1342883	hsa-miR-4425	CLIP-seq
MIRT1342885	hsa-miR-4458	CLIP-seq
MIRT1342887	hsa-miR-4478	CLIP-seq
MIRT1342889	hsa-miR-4500	CLIP-seq
MIRT1342890	hsa-miR-4514	CLIP-seq
MIRT1342892	hsa-miR-4537	CLIP-seq
MIRT1342893	hsa-miR-454	CLIP-seq
MIRT1342894	hsa-miR-4649-3p	CLIP-seq
MIRT1342895	hsa-miR-4659a-3p	CLIP-seq
MIRT1342896	hsa-miR-4659b-3p	CLIP-seq
MIRT1342898	hsa-miR-4668-5p	CLIP-seq
MIRT1342899	hsa-miR-4692	CLIP-seq
MIRT1342902	hsa-miR-4722-5p	CLIP-seq
MIRT1342903	hsa-miR-4726-3p	CLIP-seq
MIRT1342904	hsa-miR-4728-5p	CLIP-seq
MIRT1342907	hsa-miR-4738-3p	CLIP-seq
MIRT1342908	hsa-miR-4755-3p	CLIP-seq
MIRT1342909	hsa-miR-4768-3p	CLIP-seq
MIRT1342914	hsa-miR-485-5p	CLIP-seq
MIRT1342915	hsa-miR-490-3p	CLIP-seq
MIRT2325759	hsa-miR-520f	CLIP-seq
MIRT2325760	hsa-miR-548o	CLIP-seq
MIRT1342930	hsa-miR-650	CLIP-seq
MIRT1342933	hsa-miR-940	CLIP-seq
MIRT1342934	hsa-miR-98	CLIP-seq
MIRT1342814	hsa-let-7a	CLIP-seq
MIRT1342815	hsa-let-7b	CLIP-seq
MIRT1342816	hsa-let-7c	CLIP-seq
MIRT1342817	hsa-let-7d	CLIP-seq
MIRT1342818	hsa-let-7e	CLIP-seq
MIRT1342819	hsa-let-7f	CLIP-seq
MIRT1342820	hsa-let-7g	CLIP-seq
MIRT1342821	hsa-let-7i	CLIP-seq
MIRT1342823	hsa-miR-1228	CLIP-seq
MIRT2101353	hsa-miR-1273	CLIP-seq
MIRT1342838	hsa-miR-1827	CLIP-seq
MIRT1342839	hsa-miR-1915	CLIP-seq
MIRT1342843	hsa-miR-202	CLIP-seq
MIRT1342844	hsa-miR-2114	CLIP-seq
MIRT1342848	hsa-miR-2467-3p	CLIP-seq
MIRT1342851	hsa-miR-3122	CLIP-seq
MIRT1342853	hsa-miR-3147	CLIP-seq
MIRT1342855	hsa-miR-3153	CLIP-seq
MIRT1342857	hsa-miR-3192	CLIP-seq
MIRT1342861	hsa-miR-342-3p	CLIP-seq
MIRT1342862	hsa-miR-3612	CLIP-seq
MIRT1342863	hsa-miR-3660	CLIP-seq
MIRT1342867	hsa-miR-3689a-3p	CLIP-seq
MIRT1342868	hsa-miR-3689c	CLIP-seq
MIRT1342869	hsa-miR-3714	CLIP-seq
MIRT1342871	hsa-miR-3913-5p	CLIP-seq
MIRT1342874	hsa-miR-3929	CLIP-seq
MIRT1342875	hsa-miR-4257	CLIP-seq
MIRT1342876	hsa-miR-4284	CLIP-seq
MIRT1342882	hsa-miR-4419b	CLIP-seq
MIRT1342883	hsa-miR-4425	CLIP-seq
MIRT1342885	hsa-miR-4458	CLIP-seq
MIRT1342887	hsa-miR-4478	CLIP-seq
MIRT1342889	hsa-miR-4500	CLIP-seq
MIRT1342890	hsa-miR-4514	CLIP-seq
MIRT1342891	hsa-miR-4526	CLIP-seq
MIRT1342892	hsa-miR-4537	CLIP-seq
MIRT1342894	hsa-miR-4649-3p	CLIP-seq
MIRT1342898	hsa-miR-4668-5p	CLIP-seq
MIRT1342899	hsa-miR-4692	CLIP-seq
MIRT1342903	hsa-miR-4726-3p	CLIP-seq
MIRT1342904	hsa-miR-4728-5p	CLIP-seq
MIRT1342907	hsa-miR-4738-3p	CLIP-seq
MIRT1342914	hsa-miR-485-5p	CLIP-seq
MIRT1342915	hsa-miR-490-3p	CLIP-seq
MIRT2101360	hsa-miR-508-5p	CLIP-seq
MIRT1342930	hsa-miR-650	CLIP-seq
MIRT2101364	hsa-miR-766	CLIP-seq
MIRT1342933	hsa-miR-940	CLIP-seq
MIRT1342934	hsa-miR-98	CLIP-seq
MIRT2433077	hsa-miR-944	CLIP-seq
MIRT1342823	hsa-miR-1228	CLIP-seq
MIRT1342838	hsa-miR-1827	CLIP-seq
MIRT1342839	hsa-miR-1915	CLIP-seq
MIRT1342844	hsa-miR-2114	CLIP-seq
MIRT1342848	hsa-miR-2467-3p	CLIP-seq
MIRT1342851	hsa-miR-3122	CLIP-seq
MIRT1342857	hsa-miR-3192	CLIP-seq
MIRT1342862	hsa-miR-3612	CLIP-seq
MIRT1342867	hsa-miR-3689a-3p	CLIP-seq
MIRT1342868	hsa-miR-3689c	CLIP-seq
MIRT1342869	hsa-miR-3714	CLIP-seq
MIRT1342871	hsa-miR-3913-5p	CLIP-seq
MIRT1342872	hsa-miR-3926	CLIP-seq
MIRT1342875	hsa-miR-4257	CLIP-seq
MIRT1342890	hsa-miR-4514	CLIP-seq
MIRT1342892	hsa-miR-4537	CLIP-seq
MIRT2459233	hsa-miR-4684-5p	CLIP-seq
MIRT1342899	hsa-miR-4692	CLIP-seq
MIRT1342902	hsa-miR-4722-5p	CLIP-seq
MIRT1342903	hsa-miR-4726-3p	CLIP-seq
MIRT1342904	hsa-miR-4728-5p	CLIP-seq
MIRT1342909	hsa-miR-4768-3p	CLIP-seq
MIRT1342912	hsa-miR-4786-5p	CLIP-seq
MIRT1342913	hsa-miR-4793-5p	CLIP-seq
MIRT1342915	hsa-miR-490-3p	CLIP-seq
MIRT2459234	hsa-miR-548c-3p	CLIP-seq
MIRT1342926	hsa-miR-548s	CLIP-seq
MIRT1342930	hsa-miR-650	CLIP-seq
MIRT1342932	hsa-miR-769-5p	CLIP-seq
MIRT1342933	hsa-miR-940	CLIP-seq
MIRT1342823	hsa-miR-1228	CLIP-seq
MIRT1342851	hsa-miR-3122	CLIP-seq
MIRT1342867	hsa-miR-3689a-3p	CLIP-seq
MIRT1342868	hsa-miR-3689c	CLIP-seq
MIRT1342869	hsa-miR-3714	CLIP-seq
MIRT1342871	hsa-miR-3913-5p	CLIP-seq
MIRT1342890	hsa-miR-4514	CLIP-seq
MIRT1342899	hsa-miR-4692	CLIP-seq
MIRT1342904	hsa-miR-4728-5p	CLIP-seq
MIRT1342933	hsa-miR-940	CLIP-seq
MIRT1342822	hsa-miR-1206	CLIP-seq
MIRT2101352	hsa-miR-1227	CLIP-seq
MIRT1342823	hsa-miR-1228	CLIP-seq
MIRT1342825	hsa-miR-125a-5p	CLIP-seq
MIRT1342826	hsa-miR-125b	CLIP-seq
MIRT2101353	hsa-miR-1273	CLIP-seq
MIRT1342827	hsa-miR-1275	CLIP-seq
MIRT1342828	hsa-miR-1291	CLIP-seq
MIRT2621470	hsa-miR-129-5p	CLIP-seq
MIRT1342833	hsa-miR-146b-3p	CLIP-seq
MIRT1342838	hsa-miR-1827	CLIP-seq
MIRT2621471	hsa-miR-1909	CLIP-seq
MIRT1342839	hsa-miR-1915	CLIP-seq
MIRT2621472	hsa-miR-2052	CLIP-seq
MIRT1342844	hsa-miR-2114	CLIP-seq
MIRT1342848	hsa-miR-2467-3p	CLIP-seq
MIRT2621473	hsa-miR-296-3p	CLIP-seq
MIRT2621474	hsa-miR-296-5p	CLIP-seq
MIRT2621475	hsa-miR-3064-3p	CLIP-seq
MIRT2621476	hsa-miR-3120-3p	CLIP-seq
MIRT2621477	hsa-miR-3120-5p	CLIP-seq
MIRT2621478	hsa-miR-3121-5p	CLIP-seq
MIRT1342851	hsa-miR-3122	CLIP-seq
MIRT1342853	hsa-miR-3147	CLIP-seq
MIRT2621479	hsa-miR-3149	CLIP-seq
MIRT2621480	hsa-miR-3170	CLIP-seq
MIRT1342857	hsa-miR-3192	CLIP-seq
MIRT2621481	hsa-miR-3194-3p	CLIP-seq
MIRT2621482	hsa-miR-326	CLIP-seq
MIRT2621483	hsa-miR-330-5p	CLIP-seq
MIRT1342858	hsa-miR-331-5p	CLIP-seq
MIRT1342859	hsa-miR-335	CLIP-seq
MIRT1342860	hsa-miR-339-5p	CLIP-seq
MIRT2621484	hsa-miR-3607-3p	CLIP-seq
MIRT1342862	hsa-miR-3612	CLIP-seq
MIRT2621485	hsa-miR-3613-3p	CLIP-seq
MIRT2621486	hsa-miR-3653	CLIP-seq
MIRT2621487	hsa-miR-3658	CLIP-seq
MIRT2621488	hsa-miR-3664-5p	CLIP-seq
MIRT1342866	hsa-miR-3672	CLIP-seq
MIRT2621489	hsa-miR-3681	CLIP-seq
MIRT2621490	hsa-miR-3686	CLIP-seq
MIRT2621491	hsa-miR-3688-5p	CLIP-seq
MIRT1342867	hsa-miR-3689a-3p	CLIP-seq
MIRT1342868	hsa-miR-3689c	CLIP-seq
MIRT1342869	hsa-miR-3714	CLIP-seq
MIRT2621492	hsa-miR-371-5p	CLIP-seq
MIRT2621493	hsa-miR-371b-5p	CLIP-seq
MIRT1342870	hsa-miR-375	CLIP-seq
MIRT2621494	hsa-miR-3908	CLIP-seq
MIRT1342871	hsa-miR-3913-5p	CLIP-seq
MIRT2621495	hsa-miR-3921	CLIP-seq
MIRT1342872	hsa-miR-3926	CLIP-seq
MIRT1342874	hsa-miR-3929	CLIP-seq
MIRT2621496	hsa-miR-3942-5p	CLIP-seq
MIRT2621497	hsa-miR-3977	CLIP-seq
MIRT2101355	hsa-miR-4252	CLIP-seq
MIRT1342875	hsa-miR-4257	CLIP-seq
MIRT2621498	hsa-miR-4260	CLIP-seq
MIRT2621499	hsa-miR-4282	CLIP-seq
MIRT2621500	hsa-miR-4291	CLIP-seq
MIRT1342879	hsa-miR-4310	CLIP-seq
MIRT2621501	hsa-miR-4313	CLIP-seq
MIRT2621502	hsa-miR-4318	CLIP-seq
MIRT1342881	hsa-miR-4319	CLIP-seq
MIRT2621503	hsa-miR-4328	CLIP-seq
MIRT1342882	hsa-miR-4419b	CLIP-seq
MIRT2621504	hsa-miR-4424	CLIP-seq
MIRT2621505	hsa-miR-4432	CLIP-seq
MIRT1342886	hsa-miR-4461	CLIP-seq
MIRT2621506	hsa-miR-4471	CLIP-seq
MIRT1342887	hsa-miR-4478	CLIP-seq
MIRT1342888	hsa-miR-4488	CLIP-seq
MIRT1342890	hsa-miR-4514	CLIP-seq
MIRT2621507	hsa-miR-4519	CLIP-seq
MIRT2621508	hsa-miR-4522	CLIP-seq
MIRT1342892	hsa-miR-4537	CLIP-seq
MIRT2621509	hsa-miR-4641	CLIP-seq
MIRT1342894	hsa-miR-4649-3p	CLIP-seq
MIRT2621510	hsa-miR-4653-5p	CLIP-seq
MIRT1342897	hsa-miR-4665-5p	CLIP-seq
MIRT2621511	hsa-miR-4667-5p	CLIP-seq
MIRT2459233	hsa-miR-4684-5p	CLIP-seq
MIRT1342899	hsa-miR-4692	CLIP-seq
MIRT2621512	hsa-miR-4695-3p	CLIP-seq
MIRT1342900	hsa-miR-4697-5p	CLIP-seq
MIRT2621513	hsa-miR-4700-5p	CLIP-seq
MIRT2621514	hsa-miR-4703-5p	CLIP-seq
MIRT2621515	hsa-miR-4719	CLIP-seq
MIRT1342902	hsa-miR-4722-5p	CLIP-seq
MIRT1342903	hsa-miR-4726-3p	CLIP-seq
MIRT2621516	hsa-miR-4727-5p	CLIP-seq
MIRT1342904	hsa-miR-4728-5p	CLIP-seq
MIRT1342905	hsa-miR-4729	CLIP-seq
MIRT1342906	hsa-miR-4732-3p	CLIP-seq
MIRT1342907	hsa-miR-4738-3p	CLIP-seq
MIRT2621517	hsa-miR-4766-3p	CLIP-seq
MIRT1342909	hsa-miR-4768-3p	CLIP-seq
MIRT2621518	hsa-miR-4769-3p	CLIP-seq
MIRT2621519	hsa-miR-4775	CLIP-seq
MIRT1342910	hsa-miR-4777-5p	CLIP-seq
MIRT2621520	hsa-miR-4778-3p	CLIP-seq
MIRT1342911	hsa-miR-4778-5p	CLIP-seq
MIRT2621521	hsa-miR-4781-3p	CLIP-seq
MIRT1342912	hsa-miR-4786-5p	CLIP-seq
MIRT2101359	hsa-miR-4793-3p	CLIP-seq
MIRT1342913	hsa-miR-4793-5p	CLIP-seq
MIRT1342914	hsa-miR-485-5p	CLIP-seq
MIRT1342915	hsa-miR-490-3p	CLIP-seq
MIRT2621522	hsa-miR-494	CLIP-seq
MIRT2101360	hsa-miR-508-5p	CLIP-seq
MIRT1342917	hsa-miR-518d-5p	CLIP-seq
MIRT1342918	hsa-miR-519b-5p	CLIP-seq
MIRT1342919	hsa-miR-519c-5p	CLIP-seq
MIRT1342920	hsa-miR-520c-5p	CLIP-seq
MIRT1342923	hsa-miR-526a	CLIP-seq
MIRT2621523	hsa-miR-545	CLIP-seq
MIRT2621524	hsa-miR-548ac	CLIP-seq
MIRT2621525	hsa-miR-548ae	CLIP-seq
MIRT2621526	hsa-miR-548aj	CLIP-seq
MIRT2621527	hsa-miR-548am	CLIP-seq
MIRT2459234	hsa-miR-548c-3p	CLIP-seq
MIRT2621528	hsa-miR-548d-3p	CLIP-seq
MIRT1342926	hsa-miR-548s	CLIP-seq
MIRT2621529	hsa-miR-548x	CLIP-seq
MIRT2621530	hsa-miR-548z	CLIP-seq
MIRT2621531	hsa-miR-568	CLIP-seq
MIRT2101361	hsa-miR-582-5p	CLIP-seq
MIRT2621532	hsa-miR-618	CLIP-seq
MIRT2101363	hsa-miR-627	CLIP-seq
MIRT2621533	hsa-miR-637	CLIP-seq
MIRT1342930	hsa-miR-650	CLIP-seq
MIRT1342931	hsa-miR-670	CLIP-seq
MIRT2101364	hsa-miR-766	CLIP-seq
MIRT1342932	hsa-miR-769-5p	CLIP-seq
MIRT2621534	hsa-miR-924	CLIP-seq
MIRT1342933	hsa-miR-940	CLIP-seq
MIRT2621535	hsa-miR-942	CLIP-seq
MIRT2433077	hsa-miR-944	CLIP-seq
MIRT1342822	hsa-miR-1206	CLIP-seq
MIRT1342823	hsa-miR-1228	CLIP-seq
MIRT1342825	hsa-miR-125a-5p	CLIP-seq
MIRT1342826	hsa-miR-125b	CLIP-seq
MIRT2101353	hsa-miR-1273	CLIP-seq
MIRT1342827	hsa-miR-1275	CLIP-seq
MIRT1342828	hsa-miR-1291	CLIP-seq
MIRT2621470	hsa-miR-129-5p	CLIP-seq
MIRT1342833	hsa-miR-146b-3p	CLIP-seq
MIRT1342838	hsa-miR-1827	CLIP-seq
MIRT2621471	hsa-miR-1909	CLIP-seq
MIRT1342839	hsa-miR-1915	CLIP-seq
MIRT2621472	hsa-miR-2052	CLIP-seq
MIRT1342844	hsa-miR-2114	CLIP-seq
MIRT1342848	hsa-miR-2467-3p	CLIP-seq
MIRT2621473	hsa-miR-296-3p	CLIP-seq
MIRT2621474	hsa-miR-296-5p	CLIP-seq
MIRT2621475	hsa-miR-3064-3p	CLIP-seq
MIRT2621476	hsa-miR-3120-3p	CLIP-seq
MIRT2621477	hsa-miR-3120-5p	CLIP-seq
MIRT2621478	hsa-miR-3121-5p	CLIP-seq
MIRT1342851	hsa-miR-3122	CLIP-seq
MIRT1342853	hsa-miR-3147	CLIP-seq
MIRT2621479	hsa-miR-3149	CLIP-seq
MIRT2621480	hsa-miR-3170	CLIP-seq
MIRT1342857	hsa-miR-3192	CLIP-seq
MIRT2621481	hsa-miR-3194-3p	CLIP-seq
MIRT2621482	hsa-miR-326	CLIP-seq
MIRT2621483	hsa-miR-330-5p	CLIP-seq
MIRT1342858	hsa-miR-331-5p	CLIP-seq
MIRT1342859	hsa-miR-335	CLIP-seq
MIRT1342860	hsa-miR-339-5p	CLIP-seq
MIRT2621484	hsa-miR-3607-3p	CLIP-seq
MIRT1342862	hsa-miR-3612	CLIP-seq
MIRT2621485	hsa-miR-3613-3p	CLIP-seq
MIRT2621486	hsa-miR-3653	CLIP-seq
MIRT2621487	hsa-miR-3658	CLIP-seq
MIRT2621488	hsa-miR-3664-5p	CLIP-seq
MIRT1342866	hsa-miR-3672	CLIP-seq
MIRT2621489	hsa-miR-3681	CLIP-seq
MIRT2621490	hsa-miR-3686	CLIP-seq
MIRT2621491	hsa-miR-3688-5p	CLIP-seq
MIRT1342867	hsa-miR-3689a-3p	CLIP-seq
MIRT1342868	hsa-miR-3689c	CLIP-seq
MIRT1342869	hsa-miR-3714	CLIP-seq
MIRT2621492	hsa-miR-371-5p	CLIP-seq
MIRT2621493	hsa-miR-371b-5p	CLIP-seq
MIRT1342870	hsa-miR-375	CLIP-seq
MIRT2621494	hsa-miR-3908	CLIP-seq
MIRT1342871	hsa-miR-3913-5p	CLIP-seq
MIRT2621495	hsa-miR-3921	CLIP-seq
MIRT1342872	hsa-miR-3926	CLIP-seq
MIRT1342874	hsa-miR-3929	CLIP-seq
MIRT2621496	hsa-miR-3942-5p	CLIP-seq
MIRT2621497	hsa-miR-3977	CLIP-seq
MIRT2101355	hsa-miR-4252	CLIP-seq
MIRT1342875	hsa-miR-4257	CLIP-seq
MIRT2621498	hsa-miR-4260	CLIP-seq
MIRT2621499	hsa-miR-4282	CLIP-seq
MIRT2621500	hsa-miR-4291	CLIP-seq
MIRT1342879	hsa-miR-4310	CLIP-seq
MIRT2621501	hsa-miR-4313	CLIP-seq
MIRT2621502	hsa-miR-4318	CLIP-seq
MIRT1342881	hsa-miR-4319	CLIP-seq
MIRT2621503	hsa-miR-4328	CLIP-seq
MIRT1342882	hsa-miR-4419b	CLIP-seq
MIRT2621504	hsa-miR-4424	CLIP-seq
MIRT2621505	hsa-miR-4432	CLIP-seq
MIRT1342886	hsa-miR-4461	CLIP-seq
MIRT2621506	hsa-miR-4471	CLIP-seq
MIRT1342887	hsa-miR-4478	CLIP-seq
MIRT1342888	hsa-miR-4488	CLIP-seq
MIRT1342890	hsa-miR-4514	CLIP-seq
MIRT2621507	hsa-miR-4519	CLIP-seq
MIRT2621508	hsa-miR-4522	CLIP-seq
MIRT1342892	hsa-miR-4537	CLIP-seq
MIRT2621509	hsa-miR-4641	CLIP-seq
MIRT1342894	hsa-miR-4649-3p	CLIP-seq
MIRT2621510	hsa-miR-4653-5p	CLIP-seq
MIRT1342897	hsa-miR-4665-5p	CLIP-seq
MIRT2621511	hsa-miR-4667-5p	CLIP-seq
MIRT2459233	hsa-miR-4684-5p	CLIP-seq
MIRT1342899	hsa-miR-4692	CLIP-seq
MIRT2621512	hsa-miR-4695-3p	CLIP-seq
MIRT1342900	hsa-miR-4697-5p	CLIP-seq
MIRT2621513	hsa-miR-4700-5p	CLIP-seq
MIRT2621514	hsa-miR-4703-5p	CLIP-seq
MIRT2621515	hsa-miR-4719	CLIP-seq
MIRT1342902	hsa-miR-4722-5p	CLIP-seq
MIRT1342903	hsa-miR-4726-3p	CLIP-seq
MIRT2621516	hsa-miR-4727-5p	CLIP-seq
MIRT1342904	hsa-miR-4728-5p	CLIP-seq
MIRT1342905	hsa-miR-4729	CLIP-seq
MIRT1342906	hsa-miR-4732-3p	CLIP-seq
MIRT1342907	hsa-miR-4738-3p	CLIP-seq
MIRT2621517	hsa-miR-4766-3p	CLIP-seq
MIRT1342909	hsa-miR-4768-3p	CLIP-seq
MIRT2621518	hsa-miR-4769-3p	CLIP-seq
MIRT2621519	hsa-miR-4775	CLIP-seq
MIRT1342910	hsa-miR-4777-5p	CLIP-seq
MIRT2621520	hsa-miR-4778-3p	CLIP-seq
MIRT1342911	hsa-miR-4778-5p	CLIP-seq
MIRT2621521	hsa-miR-4781-3p	CLIP-seq
MIRT1342912	hsa-miR-4786-5p	CLIP-seq
MIRT2101359	hsa-miR-4793-3p	CLIP-seq
MIRT1342913	hsa-miR-4793-5p	CLIP-seq
MIRT1342914	hsa-miR-485-5p	CLIP-seq
MIRT1342915	hsa-miR-490-3p	CLIP-seq
MIRT2621522	hsa-miR-494	CLIP-seq
MIRT2101360	hsa-miR-508-5p	CLIP-seq
MIRT1342917	hsa-miR-518d-5p	CLIP-seq
MIRT1342918	hsa-miR-519b-5p	CLIP-seq
MIRT1342919	hsa-miR-519c-5p	CLIP-seq
MIRT1342920	hsa-miR-520c-5p	CLIP-seq
MIRT1342923	hsa-miR-526a	CLIP-seq
MIRT2621523	hsa-miR-545	CLIP-seq
MIRT2621524	hsa-miR-548ac	CLIP-seq
MIRT2621525	hsa-miR-548ae	CLIP-seq
MIRT2621526	hsa-miR-548aj	CLIP-seq
MIRT2621527	hsa-miR-548am	CLIP-seq
MIRT2459234	hsa-miR-548c-3p	CLIP-seq
MIRT2621528	hsa-miR-548d-3p	CLIP-seq
MIRT1342926	hsa-miR-548s	CLIP-seq
MIRT2621529	hsa-miR-548x	CLIP-seq
MIRT2621530	hsa-miR-548z	CLIP-seq
MIRT2621531	hsa-miR-568	CLIP-seq
MIRT2101361	hsa-miR-582-5p	CLIP-seq
MIRT2621532	hsa-miR-618	CLIP-seq
MIRT2621533	hsa-miR-637	CLIP-seq
MIRT1342930	hsa-miR-650	CLIP-seq
MIRT1342931	hsa-miR-670	CLIP-seq
MIRT2101364	hsa-miR-766	CLIP-seq
MIRT1342932	hsa-miR-769-5p	CLIP-seq
MIRT1342933	hsa-miR-940	CLIP-seq
MIRT2621535	hsa-miR-942	CLIP-seq
MIRT2433077	hsa-miR-944	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0005515	Function	Protein binding	IPI	28514442, 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	7581448
GO:0007517	Process	Muscle organ development	IEA
GO:0007517	Process	Muscle organ development	TAS	7581448, 8968749
GO:0009749	Process	Response to glucose	IEA
GO:0010467	Process	Gene expression	IEA
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	7581448
GO:0016020	Component	Membrane	IEA
GO:0042383	Component	Sarcolemma	IBA
GO:0042383	Component	Sarcolemma	IEA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0044381	Process	Glucose import in response to insulin stimulus	IEA
GO:0055001	Process	Muscle cell development	IEA
GO:0055013	Process	Cardiac muscle cell development	IEA
GO:0097084	Process	Vascular associated smooth muscle cell development	IEA

MIM	HGNC	e!Ensembl
600900	10806	ENSG00000163069

Q16585

Protein name

Beta-sarcoglycan (Beta-SG) (43 kDa dystrophin-associated glycoprotein) (43DAG) (A3b)

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	54 → 303	Sarcoglycan complex subunit protein	Family

Tissue specificity

TISSUE SPECIFICITY: Highest expression in heart and skeletal muscle. Low expression in brain, kidney, placenta, pancreas and lung. High expression in fetal brain. Also found in fetal lung, kidney and liver.

Sequence

MAAAAAAAAEQQSSNGPVKKSMREKAVERRSVNKEHNSNFKAGYIPIDEDRLHKTGLRGR
KGNLAICVIILLFILAVINLIITLVIWAVIRIGPNGCDSMEFHESGLLRFKQVSDMGVIH
PLYKSTVGGRRNENLVITGNNQPIVFQQGTTKLSVENNKTSITSDIGMQFFDPRTQNILF
STDYETHEFHLPSGVKSLNVQKASTERITSNATSDLNIKVDGRAIVRGNEGVFIMGKTIE
FHMGGNMELKAENSIILNGSVMVSTTRLPSSSSGDQLGSGDWVRYKLCMCADGTLFKVQV
TSQNMGCQISDNPCGNTH

Sequence length

318

Interactions

View interactions

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

673

Show/Hide Causal Diseases (8)

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	rs1484409119, rs398123262	RCV001814546 RCV001814534
Autosomal recessive limb-girdle muscular dystrophy	Likely pathogenic; Pathogenic	rs751427686, rs28936383, rs751427729, rs2475221832, rs1057516515, rs747809412, rs555514820, rs1013015106, rs762652676	RCV004526969 RCV004998080 RCV004998081 RCV004527265 RCV004999362 RCV004999363 RCV001779022 RCV005000388 RCV002222588
Autosomal recessive limb-girdle muscular dystrophy type 2E	Pathogenic; Likely pathogenic	rs1263020044, rs750773622, rs2109372060, rs2109372084, rs771814273, rs2109375847, rs1484409119, rs2109380938, rs2109370093, rs2109376007, rs1737176330, rs2109376054, rs2109380824, rs2109380910, rs2109370922 View all (83 more)	RCV001388261 RCV001390947 RCV001390088 RCV001387443 RCV001387067 RCV005409823 RCV001873815 RCV001866182 RCV001733648 RCV001784969 RCV001783736 RCV001920780 RCV001953298 RCV001893276 RCV001905451 RCV001993274 RCV002007307 RCV001985768 RCV001939636 RCV001972590 RCV002250345 RCV002247151 RCV002466749 RCV002308233 RCV002307228 RCV001852106 RCV002664341 RCV002651826 RCV002663615 RCV002810743 RCV002853050 RCV003040328 RCV003044685 RCV000009250 RCV000009251 RCV000009252 RCV000009253 RCV000009254 RCV000009255 RCV000009256 RCV000009257 RCV000812020 RCV003475899 RCV000808980 RCV003388305 RCV003466382 RCV003463546 RCV003466383 RCV003472675 RCV003472676 RCV003472677 RCV003472678 RCV003472679 RCV003472680 RCV003472681 RCV003472683 RCV003472684 RCV003472685 RCV003472686 RCV003472687 RCV003486342 RCV003510512 RCV003509899 RCV003510799 RCV003509948 RCV003621061 RCV003621326 RCV003821082 RCV003831283 RCV004006232 RCV005038706 RCV004576164 RCV004573579 RCV000410503 RCV000411845 RCV000410084 RCV000412246 RCV000411828 RCV000411494 RCV000412344 RCV000551664 RCV000530736 RCV000544134 RCV000554563 RCV000813259 RCV000177020 RCV001209561 RCV000642668 RCV000642670 RCV000642669 RCV000669104 RCV000671719 RCV000671402 RCV000674583 RCV000666951 RCV000670539 RCV000669992 RCV000667723 RCV000665594 RCV000672896 RCV000824267 RCV000987446 RCV000987447 RCV001069412 RCV001039228 RCV001204851 RCV001049531
Limb-girdle muscular dystrophy	Likely pathogenic; Pathogenic	rs150518260	RCV005862742
Limb-girdle muscular dystrophy, recessive	Likely pathogenic; Pathogenic	rs752492870	RCV000353900
Primary dilated cardiomyopathy	Pathogenic	rs398123262	RCV001594381
Qualitative or quantitative defects of beta-sarcoglycan	Likely pathogenic; Pathogenic	rs886042503, rs752492870, rs150518260	RCV000778734 RCV000778733 RCV000340831
Sialidosis	Likely pathogenic; Pathogenic	rs751427686	RCV004540598

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Gastric cancer	Benign; Uncertain significance	rs762831481, rs570232197	RCV005867128 RCV005898725
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs146888744	RCV005900010
Hypertrophic cardiomyopathy	Benign	rs200761715	RCV000852968
SGCB-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs774413452, rs149121189, rs147995730	RCV003956086 RCV003930161 RCV003394336
Thymoma	Uncertain significance	rs529566743	RCV005895865

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Beta sarcoglycanopathy	Associate	25862795, 31937337, 36077211
Cardiomyopathies	Associate	10662809
Charcot Marie Tooth disease Type 2F	Associate	24565866
Glycogen Storage Disease Type II	Associate	31931849
Heart Defects Congenital	Associate	10662809
Heart Diseases	Associate	10662809, 25862795
Hypertension Pulmonary	Associate	27048385
Limb girdle muscular dystrophy autosomal recessive	Associate	9032047
Limb girdle muscular dystrophy type 2A	Associate	25135358, 31937337
Limb girdle muscular dystrophy type 2C	Associate	33386810
Limb girdle muscular dystrophy type 2E	Associate	25862795, 36077211, 37317968, 38177855, 39769077
Limb girdle muscular dystrophy type 2F	Associate	39336735, 39755676
Lymphedema Congenital Recessive	Associate	31931849
Muscular Atrophy	Associate	29351619
Muscular Diseases	Associate	37317968, 9032047
Muscular Dystrophies	Associate	19835634
Muscular Dystrophies Limb Girdle	Associate	10662809, 24565866, 34087734, 40225150, 8943294
Nerve Degeneration	Associate	39769077
Pulmonary Arterial Hypertension	Associate	30314482
Respiratory Insufficiency	Associate	25862795
Retinal Dystrophies	Associate	29351619
Sarcoglycanopathies	Associate	18535179, 30764848, 33386810, 37699968
Sarcoglycanopathies	Inhibit	39755676
Sarcoglycanopathies	Stimulate	9429136
Urinary Bladder Neoplasms	Associate	12436434

SGCB (sarcoglycan beta)