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	LAMB1
Previous Symbol	CLM
Approved Name	laminin, beta 1
Previous Name	cutis laxa with marfanoid phenotype
Location	7q22
Position	chr7:107923799-108003255, -1
External Links	HGNC: 6486 Entrez Gene: 3912 Ensembl: ENSG00000091136 UCSC: uc003vew.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
Georgi, B., 2014	SNP: rs35915664, rs80095409	Putative damaging exonic variant was found within this gene.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 28)

GO terms by PBA (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0031012	extracellular matrix	cellular component	IDA[23658023]; ISS[22261194]	9
GO:0007155	cell adhesion	biological process	TAS[14557481]	42
GO:0005198	structural molecule activity	molecular function	NAS[10842354]	14
GO:0007411	axon guidance	biological process	TAS	60
GO:0031175	neuron projection development	biological process	IDA[15894315]	10

GO terms by database search (count: 23)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007566	embryo implantation	biological process	IEA	8
GO:0030335	positive regulation of cell migration	biological process	IDA[16289578]	16
GO:0043259	laminin-10 complex	cellular component	IDA[10964500]	1
GO:0021812	neuronal-glial interaction involved in cerebral cortex radial glia guided migration	biological process	IMP[23472759]	1
GO:0005178	integrin binding	molecular function	IEA	8
GO:0070062	extracellular vesicular exosome	cellular component	IDA[21362503]	176
GO:0042476	odontogenesis	biological process	IDA[15894315]	2
GO:0005615	extracellular space	cellular component	IDA[10964500]	85
GO:0030198	extracellular matrix organization	biological process	TAS	26
GO:0005604	basement membrane	cellular component	IDA[14557481]; TAS[3493487]	5
GO:0005576	extracellular region	cellular component	TAS	97
GO:0048471	perinuclear region of cytoplasm	cellular component	ISS	50
GO:0022617	extracellular matrix disassembly	biological process	TAS	10
GO:0007162	negative regulation of cell adhesion	biological process	IEA	5
GO:0005606	laminin-1 complex	cellular component	IDA[16289578]; IPI[10964500]; TAS[14557481]	2
GO:0035987	endodermal cell differentiation	biological process	IEP[23154389]	3
GO:0019899	enzyme binding	molecular function	IEA	34
GO:0043208	glycosphingolipid binding	molecular function	IEA	1
GO:0050679	positive regulation of epithelial cell proliferation	biological process	TAS[14557481]	9
GO:0043257	laminin-8 complex	cellular component	IDA[16289578]; TAS[15894315]	1
GO:0034446	substrate adhesion-dependent cell spreading	biological process	IDA[16236823]	5
GO:0005201	extracellular matrix structural constituent	molecular function	IDA[16289578]	6
GO:0005607	laminin-2 complex	cellular component	IDA[16289578]; TAS[15894315]	1

Gene related KEGG pathways (count: 5)

KEGG pathways by PBA (count: 3)

ID	Name	No. of Genes in BDgene
hsa04510	Focal adhesion	22
hsa04512	ECM-receptor interaction	9
hsa05222	Small cell lung cancer	8

KEGG pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa01430	Cell Communication	11
hsa05060	Prion disease	7

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 3)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
LAMB1	ATXN7L2	NO	yeast 2-hybrid	16713569
LAMB1	COL6A1	NO	in vivo	10407855
LAMB1	ACHE	YES	in vitro;in vivo;yeast 2-hybrid	15474030

Related other genetic factors

Gene related SNPs (count: 2)

Literature-origin SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs35915664	chr7:107929517 - 107929517(1)	downstream_gene_variant; intron_variant; missense_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/0/1)
rs80095409	chr7:107959766 - 107959766(1)	missense_variant	1(0/0/1)

LD-proxies (count: 0)

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)
7q21-31	chr7:77900000-127500000	1 (1/0/0)
Chr 7	chr7:0-159345973	3 (0/3/0)
7q31-33	chr7:107800000-138500000	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: chr7:107923799..108003255 View in gBrowse