Gene Report

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Basic Info

Approved Symbol	SGCG
Previous Symbol	DMDA1, MAM, LGMD2C
Symbol Alias	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048
Approved Name	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
Previous Name	sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)
Name Alias	Maghrebian myopathy (autosomal recessive), "35kD dystrophin-associated glycoprotein", "limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)", "gamma sarcoglycan"
Location	13q12-q13
Position	chr13:23180952-23325165, 1
External Links	HGNC: 10809 Entrez Gene: 6445 Ensembl: ENSG00000102683 UCSC: uc001uom.2
No. of Studies	2 (Positive: 0; Negative: 2; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Bergen, S. E.,2012	SNP: rs1409497	No significant association was observed in BD.	Negative	Comment on Study
Smith, E. N.,2011	SNP: rs4770394	No significant association of this gene was observed in BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	TAS[8641426]	360
GO:0016021	integral component of membrane	cellular component	IEA	219

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0061024	membrane organization	biological process	IBA	14
GO:0048738	cardiac muscle tissue development	biological process	IBA	4
GO:0005737	cytoplasm	cellular component	IEA	322
GO:0007517	muscle organ development	biological process	TAS[8641426]	11
GO:0005515	protein binding	molecular function	IPI[23414517]	563
GO:0016012	sarcoglycan complex	cellular component	IEA	2
GO:0042383	sarcolemma	cellular component	IBA	12
GO:0005856	cytoskeleton	cellular component	IEA	30
GO:0060047	heart contraction	biological process	IBA	3
GO:0055001	muscle cell development	biological process	IBA	2

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 4)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
SGCG	FLNC	NO	in vitro;in vivo;yeast 2-hybrid	10629222
SGCG	SSPN	YES	in vitro;in vivo	10942431
SGCG	SGCB	NO	in vitro	12189167
SGCG	SGCD	NO	in vivo	9864373

Related other genetic factors

Gene related SNPs (count: 5)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs4770394	chr13:23118839 - 23118839(1)		1(0/1/0)
rs1409497	chr13:23343142 - 23343142(1)	intron_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs4569110	chr13:23294371 - 23294371(1)	intron_variant
rs4769255	chr13:23294092 - 23294092(1)	intron_variant
rs4770431	chr13:23321012 - 23321012(1)	intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
13p11.1-13q13	chr13:16500000-39500000	1 (0/0/1)
13q12-14	chr13:18900000-54700000	1 (0/1/0)
13q12	chr13:18900000-31600000	2 (0/1/1)
Chr 13	chr13:0-114364328	1 (0/0/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Reference	Description	Result Category
22688191	No significant association was observed in SZ.	Negative

Gene relationship with MDD

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Region: chr13:23180952..23325165 View in gBrowse