ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	LMAN1
Previous Symbol	F5F8D
Symbol Alias	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1
Approved Name	lectin, mannose-binding, 1
Previous Name	coagulation factor V-factor VIII combined deficiency
Name Alias	endoplasmic reticulum-golgi intermediate compartment protein 53
Location	18q21.3-q22
Position	chr18:56995055-57026508, -
External Links	HGNC: 6631 Entrez Gene: 3998 Ensembl: ENSG00000074695 UCSC: uc002lhz.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by LD-proxy; Mapped by PBA pathway; Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 7)

Literature-origin SNPs (count: 0)

LD-proxies (count: 7)

rs_ID	Location	Functional Annotation
rs1984357	Chr18:57022203(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs12953981	Chr18:57009456(Fwd)	downstream_gene_variant; intron_variant
rs4806	Chr18:56995396(Fwd)	3_prime_UTR_variant; downstream_gene_variant
rs1444488	Chr18:57012576(Fwd)	downstream_gene_variant; intron_variant
rs7237397	Chr18:57011932(Fwd)	downstream_gene_variant; intron_variant
rs12958229	Chr18:57010716(Fwd)	downstream_gene_variant; intron_variant
rs7230866	Chr18:57010217(Fwd)	downstream_gene_variant; intron_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
18q21.31-21.32	chr18:53800000-59000000	1 (1/0/0)

Gene related GO terms (count: 22)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0048193	Golgi vesicle transport	Biological Process		49

GO terms by database search (count: 21)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0007596	blood coagulation	Biological Process	TAS[9546392]	83
GO:0007030	Golgi organization	Biological Process	IMP[18287528]	11
GO:0012507	ER to Golgi transport vesicle membrane	Cellular Component		3
GO:0010638	positive regulation of organelle organization	Biological Process	IMP[18287528]	1
GO:0018279	protein N-linked glycosylation via asparagine	Biological Process		24
GO:0016021	integral to membrane	Cellular Component		845
GO:0032527	protein exit from endoplasmic reticulum	Biological Process	IMP[18287528]	1
GO:0030017	sarcomere	Cellular Component		4
GO:0000139	Golgi membrane	Cellular Component		95
GO:0005537	mannose binding	Molecular Function	TAS[7876089]	2
GO:0005515	protein binding	Molecular Function	IPI[18287528]	910
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	Cellular Component	IDA[15308636]	17
GO:0005789	endoplasmic reticulum membrane	Cellular Component		140
GO:0006888	ER to Golgi vesicle-mediated transport	Biological Process	TAS[9546392]	24
GO:0006457	protein folding	Biological Process	TAS[9546392]	28
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	Cellular Component		10
GO:0034498	early endosome to Golgi transport	Biological Process	IMP[18287528]	1
GO:0043687	post-translational protein modification	Biological Process		37
GO:0044267	cellular protein metabolic process	Biological Process		64
GO:0046872	metal ion binding	Molecular Function		170
GO:0051082	unfolded protein binding	Molecular Function	TAS[9546392]	19

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04141	Protein processing in endoplasmic reticulum	26	The endoplasmic reticulum (ER) is a subcellular organelle wh...... The endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylated. Correctly folded proteins are packaged into transport vesicles that shuttle them to the Golgi complex. Misfolded proteins are retained within the ER lumen in complex with molecular chaperones. Proteins that are terminally misfolded bind to BiP and are directed toward degradation through the proteasome in a process called ER-associated degradation (ERAD). Accumulation of misfolded proteins in the ER causes ER stress and activates a signaling pathway called the unfolded protein response (UPR). In certain severe situations, however, the protective mechanisms activated by the UPR are not sufficient to restore normal ER function and cells die by apoptosis. More...

Genes shared at least 5 GO terms with LMAN1 (count: 32)

Gene Symbol	Pathway Count	Pathway List
TMED10	8	Golgi organization; integral to membrane; protein binding; endoplasmic reticulum-Golgi intermediate compartment; endoplasmic reticulum membrane; ER to Golgi vesicle-mediated transport; endoplasmic reticulum-Golgi intermediate compartment membrane; Golgi vesicle transport;
ERGIC1	8	integral to membrane; Golgi membrane; protein binding; endoplasmic reticulum-Golgi intermediate compartment; endoplasmic reticulum membrane; ER to Golgi vesicle-mediated transport; endoplasmic reticulum-Golgi intermediate compartment membrane; Golgi vesicle transport;
LMAN2L	8	integral to membrane; Golgi membrane; mannose binding; endoplasmic reticulum membrane; ER to Golgi vesicle-mediated transport; protein folding; metal ion binding; Golgi vesicle transport;
SEC22B	8	integral to membrane; Golgi membrane; protein binding; endoplasmic reticulum-Golgi intermediate compartment; endoplasmic reticulum membrane; ER to Golgi vesicle-mediated transport; endoplasmic reticulum-Golgi intermediate compartment membrane; Golgi vesicle transport;
TMED2	7	Golgi organization; integral to membrane; protein binding; endoplasmic reticulum-Golgi intermediate compartment; endoplasmic reticulum membrane; ER to Golgi vesicle-mediated transport; endoplasmic reticulum-Golgi intermediate compartment membrane;
CANX	7	protein N-linked glycosylation via asparagine; protein binding; endoplasmic reticulum membrane; protein folding; post-translational protein modification; cellular protein metabolic process; unfolded protein binding;
ALG2	6	protein N-linked glycosylation via asparagine; integral to membrane; protein binding; endoplasmic reticulum membrane; post-translational protein modification; cellular protein metabolic process;
B4GALT4	6	protein N-linked glycosylation via asparagine; integral to membrane; Golgi membrane; post-translational protein modification; cellular protein metabolic process; metal ion binding;
B4GALT6	6	protein N-linked glycosylation via asparagine; integral to membrane; Golgi membrane; post-translational protein modification; cellular protein metabolic process; metal ion binding;
MAN1A1	6	protein N-linked glycosylation via asparagine; integral to membrane; Golgi membrane; endoplasmic reticulum-Golgi intermediate compartment; post-translational protein modification; cellular protein metabolic process;
MGAT1	6	protein N-linked glycosylation via asparagine; integral to membrane; Golgi membrane; post-translational protein modification; cellular protein metabolic process; metal ion binding;
MGAT4B	6	protein N-linked glycosylation via asparagine; integral to membrane; Golgi membrane; post-translational protein modification; cellular protein metabolic process; metal ion binding;
STT3A	6	protein N-linked glycosylation via asparagine; integral to membrane; protein binding; endoplasmic reticulum membrane; post-translational protein modification; cellular protein metabolic process;
BET1	6	integral to membrane; Golgi membrane; protein binding; endoplasmic reticulum membrane; ER to Golgi vesicle-mediated transport; Golgi vesicle transport;
STX18	6	integral to membrane; Golgi membrane; protein binding; endoplasmic reticulum membrane; ER to Golgi vesicle-mediated transport; Golgi vesicle transport;
HSPA5	5	blood coagulation; protein binding; endoplasmic reticulum-Golgi intermediate compartment; endoplasmic reticulum membrane; unfolded protein binding;
SREBF1	5	ER to Golgi transport vesicle membrane; integral to membrane; Golgi membrane; protein binding; endoplasmic reticulum membrane;
ALG10	5	protein N-linked glycosylation via asparagine; integral to membrane; endoplasmic reticulum membrane; post-translational protein modification; cellular protein metabolic process;
ALG8	5	protein N-linked glycosylation via asparagine; integral to membrane; endoplasmic reticulum membrane; post-translational protein modification; cellular protein metabolic process;
ALG9	5	protein N-linked glycosylation via asparagine; integral to membrane; endoplasmic reticulum membrane; post-translational protein modification; cellular protein metabolic process;
DPAGT1	5	protein N-linked glycosylation via asparagine; integral to membrane; endoplasmic reticulum membrane; post-translational protein modification; cellular protein metabolic process;
EDEM2	5	protein N-linked glycosylation via asparagine; endoplasmic reticulum membrane; protein folding; post-translational protein modification; cellular protein metabolic process;
EDEM3	5	protein N-linked glycosylation via asparagine; endoplasmic reticulum membrane; protein folding; post-translational protein modification; cellular protein metabolic process;
MAN2A2	5	protein N-linked glycosylation via asparagine; integral to membrane; Golgi membrane; post-translational protein modification; cellular protein metabolic process;
PDIA3	5	protein N-linked glycosylation via asparagine; protein binding; protein folding; post-translational protein modification; cellular protein metabolic process;
ATF6	5	integral to membrane; Golgi membrane; protein binding; endoplasmic reticulum membrane; protein folding;
FURIN	5	integral to membrane; Golgi membrane; post-translational protein modification; cellular protein metabolic process; metal ion binding;
STS	5	integral to membrane; endoplasmic reticulum membrane; post-translational protein modification; cellular protein metabolic process; metal ion binding;
TAPBP	5	integral to membrane; Golgi membrane; protein binding; endoplasmic reticulum membrane; unfolded protein binding;
USE1	5	integral to membrane; protein binding; endoplasmic reticulum membrane; ER to Golgi vesicle-mediated transport; Golgi vesicle transport;
YIF1A	5	integral to membrane; Golgi membrane; protein binding; endoplasmic reticulum-Golgi intermediate compartment; endoplasmic reticulum membrane;
RAB2A	5	Golgi membrane; endoplasmic reticulum membrane; ER to Golgi vesicle-mediated transport; endoplasmic reticulum-Golgi intermediate compartment membrane; Golgi vesicle transport;

Genes shared at least 2 KEGG pathways with LMAN1 (count: 0)

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Region: chr18:56995055..57026508 View in gBrowse