Gene Report

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Basic Info

Approved Symbol	LMBR1L
Symbol Alias	FLJ10494, KIAA1174
Approved Name	limb development membrane protein 1-like
Previous Name	limb region 1 homolog (mouse)-like
Location	12q13.12
Position	chr12:49096551-49110900, -1
External Links	HGNC: 18268 Entrez Gene: 55716 Ensembl: ENSG00000139636 UCSC: uc001rth.4
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
Green, E. K.,2012	SNP: rs1274726	BD ImmunoChip:P-value = 0.082,OR = 1.09;ImmunoChip, PGC-BD combined data:P-balue = 0.00000148,OR = 1.121 Suggestive association was found.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016021	integral component of membrane	cellular component	IEA	219
GO:0005886	plasma membrane	cellular component	IEA	360

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006897	endocytosis	biological process	IEA	15

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
LMBR1L	LCN1	NO	in vitro	11287427
LMBR1L	SCGB1A1	NO	in vivo	16423471

Related other genetic factors

Gene related SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1274726	chr12:49107615 - 49107615(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/0/1)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs10783302		chr12:49104347 - 49104347(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_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)
Chr 12	chr12:0-133275309	3 (0/3/0)
12q	chr12:38200000-133851895	1 (1/0/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr12:49096551..49110900 View in gBrowse