Gene Report

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Basic Info

Approved Symbol	ABCB1
Previous Symbol	PGY1, MDR1, CLCS
Symbol Alias	P-gp, CD243, GP170, ABC20
Approved Name	ATP-binding cassette, sub-family B (MDR/TAP), member 1
Previous Name	colchicin sensitivity
Name Alias	multidrug resistance protein 1
Location	7q21.12
Position	chr7:87503633-87713323, -1
External Links	HGNC: 40 Entrez Gene: 5243 Ensembl: ENSG00000085563 UCSC: uc003uiz.2
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Turgut, G.,2009	Other variant: MDR1_exon26_C3435T	In conclusion, this is the first study showing association of MDR1 C3435T polymorphism and bipolar disorder.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 18)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0016020	membrane	cellular component	TAS[3022150]	137
GO:0016021	integral component of membrane	cellular component	IBA	219

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0055085	transmembrane transport	biological process	IBA; TAS	77
GO:0000086	G2/M transition of mitotic cell cycle	biological process	IDA[19384922]	15
GO:0042626	ATPase activity, coupled to transmembrane movement of substances	molecular function	IBA	4
GO:0008559	xenobiotic-transporting ATPase activity	molecular function	IEA	1
GO:0006855	drug transmembrane transport	biological process	TAS	3
GO:0042493	response to drug	biological process	TAS[3022150]	57
GO:0005515	protein binding	molecular function	IPI[17088979]	563
GO:0009986	cell surface	cellular component	IDA[19384922]	40
GO:0005215	transporter activity	molecular function	TAS[3022150]	8
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0006810	transport	biological process	TAS[3022150]	47
GO:0005524	ATP binding	molecular function	IEA	118
GO:0072089	stem cell proliferation	biological process	IMP[19384922]	1
GO:0042908	xenobiotic transport	biological process	IEA	1
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa02010	ABC transporters	5

Gene related BioCarta pathways (count: 3)

ID	Name	No. of Genes in BDgene
p53hypoxiaPathway	Hypoxia and p53 in the Cardiovascular system	6
mrpPathway	Multi-Drug Resistance Factors	1
nuclearRsPathway	Nuclear Receptors in Lipid Metabolism and Toxicity	2

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

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ABCB1	CAV1	NO	in vivo	15498565
ABCB1	RNF2	NO	in vivo;yeast 2-hybrid	17088979
ABCB1	HAX1	NO	in vivo;yeast 2-hybrid	15159385

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
MDR1_exon26_C3435T	point mutation	exon 26	1 (1/0/0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
7q21	chr7:77900000-98400000	4 (0/2/2)
7q21-31	chr7:77900000-127500000	1 (1/0/0)
Chr 7	chr7:0-159345973	3 (0/3/0)
7p15-q21	chr7:20900000-98400000	1 (0/1/0)

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

Gene relationship with SZ

Reference	ID in SZGene	Result Category
17142980	10	Negative
17113599	10	Positive

Gene relationship with MDD

Reference	Description	Category in MDD	Link in MK4MDD
20859246	The ABCB1 genotypes of rs1922242 (P=0.0028) and rs1202184 (P=0.0021) showed significant association with the severity of depressive symptoms as assessed by the Hamilton Rating Scale for Depression adjusted with Hamilton Rating Scale for Anxiety.	Pos	ABCB1
23273899	No association with mood disorders and clinical outcomes was observed	Neg	ABCB1
24200053	A significant protection for MDD males carrying the T allele was observed (C1236T: odds ratio (OR)=0.360, 95% confidence interval [CI]: [0.140-0.950], p=0.022; C3435T: OR=0.306, 95% CI: [0.096-0.980], p=0.042; and G2677TA: OR=0.300, 95% CI: [0.100-0.870], p=0.013). Male Portuguese individuals carrying the 1236T/2677T/3435T haplotype had nearly 70% less risk of developing MDD (OR=0.313, 95% CI: [0.118-0.832], p=0.016, FDR p=0.032).	Pos	ABCB1

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Region: chr7:87503633..87713323 View in gBrowse