Gene Report

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Basic Info

Approved Symbol	GALNT13
Symbol Alias	KIAA1918, GalNAc-T13
Approved Name	polypeptide N-acetylgalactosaminyltransferase 13
Previous Name	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)
Name Alias	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13, "polypeptide GalNAc transferase 13"
Location	2q24.1
Position	chr2:153871913-154453849, 1
External Links	HGNC: 23242 Entrez Gene: 114805 Ensembl: ENSG00000144278 UCSC: uc002tyr.4
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Bergen, S. E.,2012	SNP: rs12998068	No significant association was observed in BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 9)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016021	integral component of membrane	cellular component	IEA	219
GO:0004653	polypeptide N-acetylgalactosaminyltransferase activity	molecular function	IEA	1
GO:0030246	carbohydrate binding	molecular function	IEA	6

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0043687	post-translational protein modification	biological process	TAS	9
GO:0000139	Golgi membrane	cellular component	TAS	36
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0044267	cellular protein metabolic process	biological process	TAS	28
GO:0016266	O-glycan processing	biological process	TAS	4
GO:0006493	protein O-linked glycosylation	biological process	TAS	6

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa01030	Glycan structures - biosynthesis 1	8

ID	Name	No. of Genes in BDgene	Brief Description
hsa00512	O-Glycan biosynthesis	2

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
GALNT13	SKIV2L	YES	yeast 2-hybrid	15231747

Related other genetic factors

Gene related SNPs (count: 9)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs12998068	chr2:154382620 - 154382620(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs13020874	chr2:154382727 - 154382727(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs12621256	chr2:154377806 - 154377806(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs13026208	chr2:154396141 - 154396141(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs12620257	chr2:154385512 - 154385512(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs11677858	chr2:154415941 - 154415941(1)	intron_variant; non_coding_transcript_variant
rs17227503	chr2:154400861 - 154400861(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs12617140	chr2:154431364 - 154431364(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs13005832	chr2:154376679 - 154376679(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
2q21-q33	chr2:129100000-208200000	1 (0/0/1)
Chr 2	chr2:0-242193529	3 (0/3/0)

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: chr2:153871913..154453849 View in gBrowse