Gene Report

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Basic Info

Approved Symbol	ALG9
Previous Symbol	DIBD1
Approved Name	ALG9, alpha-1,2-mannosyltransferase
Previous Name	disrupted in bipolar affective disorder 1, "asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)", "asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)", "asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"
Name Alias	dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase, "dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dol-P-Man dependent alpha-1,2-mannosyltransferase"
Location	11q23
Position	chr11:111782195-111871581, -1
External Links	HGNC: 15672 Entrez Gene: 79796 Ensembl: ENSG00000086848 UCSC: uc031yew.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
Baysal, B. E., 2006	SNP: rs10502151 Haplotype: ALG9_D11S5028 - rs10502151(1-1), ALG9_D11S5028 - rs10502151(3-1), ALG9_D11S5028 - rs10502151(4-1), ALG9_D11S5028 - rs10502151(5-1), ALG9_D11S5028 - rs10502151(2-2), ALG9_D11S5028 - rs10502151(5-2), ALG9_D11S5028 - rs10502151 - ALG9_D11S5027(1-1-1), ALG9_D11S5028 - rs10502151 - ALG9_D11S5027(3-1-1), ALG9_D11S5028 - rs10502151 - ALG9_D11S5027(4-1-1), ALG9_D11S5028 - rs10502151 - ALG9_D11S5027(5-1-1), ALG9_D11S5028 - rs10502151 - ALG9_D11S5027(2-1-4), ALG9_D11S5028 - rs10502151 - ALG9_D11S5027(2-2-2), ALG9_D11S5028 - rs10502151 - ALG9_D11S5027(2-2-3) Other variant: ALG9_D11S5025, ALG9_D11S5026, ALG9_D11S5027, ALG9_D11S5028	These results suggest that common variations in ALG9 do not play a major role in predisposition to bipolar affective disorder	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016020	membrane	cellular component	IDA[19946888]	137
GO:0016021	integral component of membrane	cellular component	IEA	219

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0044267	cellular protein metabolic process	biological process	TAS	28
GO:0052926	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity	molecular function	IEA	1
GO:0018279	protein N-linked glycosylation via asparagine	biological process	TAS	5
GO:0006488	dolichol-linked oligosaccharide biosynthetic process	biological process	TAS	4
GO:0005783	endoplasmic reticulum	cellular component	IBA	49
GO:0052918	dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity	molecular function	IEA	1
GO:0097502	mannosylation	biological process	IBA; IEA	1
GO:0005789	endoplasmic reticulum membrane	cellular component	TAS	52
GO:0043687	post-translational protein modification	biological process	TAS	9
GO:0000030	mannosyltransferase activity	molecular function	IBA	3

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa00510	N-Glycan biosynthesis	3
hsa01030	Glycan structures - biosynthesis 1	8

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
ALG9	H2AFX	NO	in vivo	14519663

Related other genetic factors

Gene related SNPs (count: 9)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs10502151	chr11:111853410 - 111853410(1)	3_prime_UTR_variant; downstream_gene_variant; missense_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs2007211	chr11:111859227 - 111859227(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs1529330	chr11:111781599 - 111781599(1)	downstream_gene_variant; upstream_gene_variant
rs1648390	chr11:111849349 - 111849349(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs10502148	chr11:111777274 - 111777274(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs10502150	chr11:111837074 - 111837074(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs11214005	chr11:111800134 - 111800134(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs10502149	chr11:111836663 - 111836663(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs3867465	chr11:111791385 - 111791385(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 4)

Variant Name	Variant Type	No. of Studies (Positive/Negative/Trend)
ALG9_D11S5028	microsatellite	1 (0/1/0)
ALG9_D11S5027	microsatellite	1 (0/1/0)
ALG9_D11S5026	microsatellite	1 (0/1/0)
ALG9_D11S5025	microsatellite	1 (0/1/0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
11q22.3-11q23	chr11:102900000-121200000	2 (0/2/0)
Chr 11	chr11:0-135086622	2 (0/2/0)
11q22-q23	chr11:97200000-121200000	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr11:111782195..111871581 View in gBrowse