Gene Report

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Basic Info

Approved Symbol	RABEP1
Symbol Alias	neurocrescin, RAB5EP, RABPT5, rabaptin-5
Approved Name	rabaptin, RAB GTPase binding effector protein 1
Location	17p13.2
Position	chr17:5282265-5385812, 1
External Links	HGNC: 17677 Entrez Gene: 9135 Ensembl: ENSG00000029725 UCSC: uc032ery.1
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
Xu, W., 2014	SNP: rs7213832	The SNP within or near this gene did not achieve genome-wide significance.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 15)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005768	endosome	cellular component	IDA[20682791]	27
GO:0005515	protein binding	molecular function	IPI[12505986]	563
GO:0042803	protein homodimerization activity	molecular function	IPI[15378032]	71
GO:0043547	positive regulation of GTPase activity	biological process	IEA	30
GO:0005769	early endosome	cellular component	IEA	13
GO:0006897	endocytosis	biological process	IEA	15
GO:0005096	GTPase activator activity	molecular function	IEA	19
GO:0015031	protein transport	biological process	IEA	21
GO:0006915	apoptotic process	biological process	IEA	39
GO:0016192	vesicle-mediated transport	biological process	IMP[22841712]	10
GO:0008083	growth factor activity	molecular function	IEA	15
GO:0043231	intracellular membrane-bounded organelle	cellular component	IDA	34
GO:0030139	endocytic vesicle	cellular component	IDA[20682791]	8
GO:0055037	recycling endosome	cellular component	IEA	14
GO:0061025	membrane fusion	biological process	TAS[8521472]	6

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 14)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
RABEP1	GGA2	NO	in vitro;in vivo;yeast 2-hybrid	12505986 , 11387476 , 10747088
RABEP1	GGA3	NO	in vivo;yeast 2-hybrid	12505986
RABEP1	YWHAG	NO	in vivo	15324660
RABEP1	GAP43	NO	in vitro;in vivo	9742146
RABEP1	RAB5A	NO	in vitro;in vivo;yeast 2-hybrid	8521472 , 9045618 , 15378032
RABEP1	AP1G1	NO	in vitro	12505986
RABEP1	RABGEF1	NO	in vitro	12505986
RABEP1	TSC2	NO	in vitro;in vivo;yeast 2-hybrid	9045618
RABEP1	AP1G2	NO	in vitro	12505986
RABEP1	CASP3	NO	in vitro	10608812
RABEP1	HUNK	NO	yeast 2-hybrid	11129044
RABEP1	GGA1	NO	in vitro;in vivo;yeast 2-hybrid	12505986 , 15457209
RABEP1	RAB4A	NO	in vitro;in vivo	11788822 , 9524117
RABEP1	RAB33B	NO	in vitro;in vivo	11718716

Related other genetic factors

Gene related SNPs (count: 3)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs7213832	chr17:5368509 - 5368509(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(0/1/0)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs8076682		chr17:5290518 - 5290518(1)	intron_variant; non_coding_transcript_variant
rs11652974		chr17:5334778 - 5334778(1)	intron_variant; non_coding_transcript_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)
17p13	chr17:0-10800000	3 (0/3/0)
Chr 17	chr17:0-83257441	3 (0/3/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr17:5282265..5385812 View in gBrowse