Gene Report

ADD to My Gene Set

Basic Info

Approved Symbol	CLDN16
Symbol Alias	PCLN1, HOMG3
Approved Name	claudin 16
Name Alias	paracellin-1, "hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"
Location	3q28
Position	chr3:190322541-190412143, 1
External Links	HGNC: 2037 Entrez Gene: 10686 Ensembl: ENSG00000113946 UCSC: uc003fsi.3
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
Schosser, A.,2011	SNP: rs3774005	No significant association was observed.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 11)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	IEA	360
GO:0005198	structural molecule activity	molecular function	IEA	14
GO:0016021	integral component of membrane	cellular component	IEA	219

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0015095	magnesium ion transmembrane transporter activity	molecular function	TAS[10390358]	2
GO:0015693	magnesium ion transport	biological process	TAS[10390358]	2
GO:0007588	excretion	biological process	TAS[10390358]	4
GO:0005923	tight junction	cellular component	ISS	13
GO:0006875	cellular metal ion homeostasis	biological process	TAS[10390358]	1
GO:0042802	identical protein binding	molecular function	ISS	44
GO:0005515	protein binding	molecular function	IPI[22373575]	563
GO:0016338	calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	biological process	ISS	1

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04530	Tight junction	18
hsa04514	Cell adhesion molecules (CAMs)	14

ID	Name	No. of Genes in BDgene	Brief Description
hsa04670	Leukocyte transendothelial migration	13

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
CLDN16	TJP1	NO	in vivo	14628289

Related other genetic factors

Gene related SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs3774005	chr3:190406058 - 190406058(1)	downstream_gene_variant; intron_variant	1(0/1/0)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs3774004		chr3:190406164 - 190406164(1)	downstream_gene_variant; intron_variant

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)
Chr 3	chr3:0-198295559	2 (0/2/0)
3q28	chr3:188200000-192600000	1 (0/0/1)
3q27-28	chr3:183000000-192600000	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr3:190322541..190412143 View in gBrowse