Gene Report

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Basic Info

Approved Symbol	SLC14A1
Previous Symbol	JK
Symbol Alias	HsT1341, RACH1, RACH2
Approved Name	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)
Previous Name	Kidd blood group, "solute carrier family 14 (urea transporter), member 1"
Location	18q11-q12
Position	chr18:45724127-45752520, 1
External Links	HGNC: 10918 Entrez Gene: 6563 Ensembl: ENSG00000141469 UCSC: uc010dnk.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
Djurovic, S.,2010	SNP: rs1567426, rs447981	No significant association of this gene was observed in BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 10)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005887	integral component of plasma membrane	cellular component	IDA[19865084]	158
GO:0005886	plasma membrane	cellular component	TAS	360

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0015204	urea transmembrane transporter activity	molecular function	TAS[7797558]	1
GO:0071918	urea transmembrane transport	biological process	IDA[19865084]	1
GO:0015840	urea transport	biological process	TAS[7989337]	1
GO:0005372	water transmembrane transporter activity	molecular function	IEA	1
GO:0015265	urea channel activity	molecular function	IDA[19865084]	1
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0016323	basolateral plasma membrane	cellular component	IEA	21
GO:0006833	water transport	biological process	IEA	9

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs447981	chr8:77586554 - 77586554(1)		1(0/1/0)
rs1567426	chr8:77634401 - 77634401(1)		1(0/1/0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 7)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
18p11-q12.3	chr18:0-45900000	1 (0/0/1)
18q	chr18:18500000-80373285	1 (0/1/0)
18q12.3-q21.1	chr18:39500000-63900000	1 (1/0/0)
18q12	chr18:27500000-45900000	2 (1/1/0)
18q12-21	chr18:27500000-63900000	1 (0/1/0)
18q12.3-q22.1	chr18:39500000-69100000	1 (0/1/0)
Chr 18	chr18:0-80373285	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: chr18:45724127..45752520 View in gBrowse