Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	GBE1
Approved Name	glucan (1,4-alpha-), branching enzyme 1
Name Alias	glycogen branching enzyme, "Andersen disease", "glycogen storage disease type IV"
Location	3p12.2
Position	chr3:81489699-81762161, -1
External Links	HGNC: 4180 Entrez Gene: 2632 Ensembl: ENSG00000114480 UCSC: uc032rsl.1
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Xu, W., 2014	SNP: rs1375086, rs2594547, rs3772902, rs3860595, rs7620240	The SNP within or near this gene did not achieve genome-wide significance.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 12)

GO terms by PBA (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	molecular function	IEA	1

GO terms by database search (count: 11)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0043169	cation binding	molecular function	IEA	1
GO:0005829	cytosol	cellular component	TAS	223
GO:0005975	carbohydrate metabolic process	biological process	TAS	12
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0009405	pathogenesis	biological process	TAS	13
GO:0003844	1,4-alpha-glucan branching enzyme activity	molecular function	IEA	1
GO:0005978	glycogen biosynthetic process	biological process	IEA; TAS	4
GO:0006091	generation of precursor metabolites and energy	biological process	TAS[8613547]	5
GO:0005977	glycogen metabolic process	biological process	TAS[8613547]	5
GO:0006006	glucose metabolic process	biological process	TAS	10
GO:0044281	small molecule metabolic process	biological process	TAS	117

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa00500	Starch and sucrose metabolism	5

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GBE1	PGD	NO	yeast 2-hybrid	16169070

Related other genetic factors

Gene related SNPs (count: 40)

Literature-origin SNPs (count: 5)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs7620240	chr3:81713636 - 81713636(1)	intron_variant	1(0/1/0)
rs3860595	chr3:81762633 - 81762633(1)	downstream_gene_variant; upstream_gene_variant	1(0/1/0)
rs3772902	chr3:81674214 - 81674214(1)	intron_variant; upstream_gene_variant	1(0/1/0)
rs2594547	chr3:81728529 - 81728529(1)	intron_variant	1(0/1/0)
rs1375086	chr3:81679366 - 81679366(1)	intron_variant	1(0/1/0)

LD-proxies (count: 35)

rs_ID	Location	Functional Annotation
rs4411908	chr3:81753267 - 81753267(1)	intron_variant
rs7634258	chr3:81749949 - 81749949(1)	intron_variant
rs13065281	chr3:81644399 - 81644399(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs3772883	chr3:81753651 - 81753651(1)	intron_variant
rs7642112	chr3:81625776 - 81625776(1)	intron_variant
rs3772884	chr3:81753569 - 81753569(1)	intron_variant
rs2594551	chr3:81741139 - 81741139(1)	intron_variant
rs3772882	chr3:81759451 - 81759451(1)	downstream_gene_variant; intron_variant
rs2594553	chr3:81743934 - 81743934(1)	intron_variant; upstream_gene_variant
rs2680245	chr3:81756366 - 81756366(1)	intron_variant
rs2680277	chr3:81763255 - 81763255(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs2053805	chr3:81689263 - 81689263(1)	intron_variant
rs13099615	chr3:81679950 - 81679950(1)	intron_variant
rs3772896	chr3:81702817 - 81702817(1)	intron_variant
rs11127740	chr3:81693911 - 81693911(1)	intron_variant
rs13072957	chr3:81727091 - 81727091(1)	intron_variant
rs3821548	chr3:81709577 - 81709577(1)	intron_variant
rs3849570	chr3:81742961 - 81742961(1)	intron_variant
rs3849571	chr3:81728565 - 81728565(1)	intron_variant
rs3772891	chr3:81727609 - 81727609(1)	intron_variant
rs11710970	chr3:81644338 - 81644338(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs3772912	chr3:81649330 - 81649330(1)	intron_variant; non_coding_transcript_variant
rs3821551	chr3:81661028 - 81661028(1)	intron_variant; non_coding_transcript_variant
rs6795133	chr3:81707116 - 81707116(1)	intron_variant
rs3755713	chr3:81762073 - 81762073(1)	5_prime_UTR_variant; downstream_gene_variant
rs11707026	chr3:81644893 - 81644893(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs2229519	chr3:81648979 - 81648979(1)	missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; stop_gained
rs3821552	chr3:81652988 - 81652988(1)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs3943556	chr3:81689741 - 81689741(1)	intron_variant
rs9818090	chr3:81641258 - 81641258(1)	downstream_gene_variant; intron_variant
rs9860805	chr3:81634109 - 81634109(1)	intron_variant
rs2594549	chr3:81736204 - 81736204(1)	intron_variant
rs2680257	chr3:81732662 - 81732662(1)	intron_variant
rs1155277	chr3:81722436 - 81722436(1)	intron_variant
rs3772899	chr3:81684946 - 81684946(1)	intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 3	chr3:0-198295559	2 (0/2/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr3:81489699..81762161 View in gBrowse