Gene Report

ADD to My Gene Set

Basic Info

Approved Symbol	B3GALT5
Symbol Alias	beta3Gal-T5, B3GalT-V, GLCT5, B3T5
Approved Name	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5
Name Alias	homolog of C. elegans Bt toxin resistance gene bre-5, "GlcNAc-beta-1,3-galactosyltransferase 5"
Location	21q22.3
Position	chr21:39556442-39673137, 1
External Links	HGNC: 920 Entrez Gene: 10317 Ensembl: ENSG00000183778 UCSC: uc002yyj.2
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
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
Hamshere, M. L.,2009	SNP: rs4818065	the nearest gene of one independently associated SNP rs4818065 that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots)	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 6)

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

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0000139	Golgi membrane	cellular component	IEA	36
GO:0006486	protein glycosylation	biological process	IEA	5
GO:0005794	Golgi apparatus	cellular component	IDA[16780588]	60
GO:0005783	endoplasmic reticulum	cellular component	IDA[16780588]	49
GO:0008499	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	molecular function	TAS[10212226]	2

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in BDgene	Brief Description
hsa00601	Glycosphingolipid biosynthesis - lactoseries	2

ID	Name	No. of Genes in BDgene	Brief Description
hsa01031	Glycan structures - biosynthesis 2	3
hsa00603	Glycosphingolipid biosynthesis - globoseries	2

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 6)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs4818065	chr21:39665796 - 39665796(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_variant	1(0/0/1)

rs_ID	Location	Functional Annotation
rs3746887	chr21:39660813 - 39660813(1)	intron_variant; missense_variant; non_coding_transcript_variant
rs734413	chr21:39660877 - 39660877(1)	intron_variant; non_coding_transcript_variant; synonymous_variant
rs2222996	chr21:39657904 - 39657904(1)	intron_variant; non_coding_transcript_variant
rs4818066	chr21:39665872 - 39665872(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs560928	chr21:39656644 - 39656644(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 21	chr21:0-46709983	1 (0/1/0)
21q22	chr21:30200000-46709983	2 (0/0/2)
21q21.3-qter	chr21:25500000-46709983	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr21:39556442..39673137 View in gBrowse