Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Comment on Gene

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Basic Info

Approved Symbol	AKT1
Symbol Alias	RAC, PKB, PRKBA, AKT
Approved Name	v-akt murine thymoma viral oncogene homolog 1
Location	14q32.33
Position	chr14:104769349-104795751, -1
External Links	HGNC: 391 Entrez Gene: 207 Ensembl: ENSG00000142208 UCSC: uc001ypn.3
No. of Studies	3 (Positive: 3; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Karege, F.,2012	SNP: rs2494732, rs2498804, rs3803300	AKT1 gene variations appeared to impact the risk for a class of psychiatric symptoms, comprising SCZ and BPD. Our findings support the view that AKT1 genetic variants are shared by both BPD and SCZ.	Positive	Comment on Study
Toyota, T.,2003	Haplotype: (AKT1_1251C>T) - ( AKT1_IVS14+32G>A) - ( AKT1_IVS14+66C>G) - ( AKT1_IVS14+93C>T) - ( AKT1_IVS+95-98delCTCA)(C-G-C-C-del), (AKT1_1251C>T) - ( AKT1_IVS14+32G>A) - ( AKT1_IVS14+66C>G) - ( AKT1_IVS14+93C>T) - ( AKT1_IVS14+98A>G)(C-G-C-C-A), (AKT1_1251C>T) - ( AKT1_IVS14+32G>A) - ( AKT1_IVS14+66C>G) - ( AKT1_IVS14+93C>T) - ( AKT1_IVS14+98A>G)(C-G-G-C-A), (AKT1_1251C>T) - ( AKT1_IVS14+32G>A) - ( AKT1_IVS14+66C>G) - ( AKT1_IVS14+93C>T) - ( AKT1_IVS14+98A>G) - ( AKT1_IVS14+105_106ins_CTCAC or CTCAG)(C-G-C-C-G-insCTCAG)	Transmission of haplotypes constructed from this cluster showed a weak evidence of association between the AKT1 and bipolar disorder.	Positive	Comment on Study
Karege, F.,2010	SNP: rs1130214, rs1130233, rs2494732, rs2498804, rs3730358, rs3803300 Haplotype: rs1130214 - rs3803300(), rs1130233 - rs3730358(), rs1130233 - rs3730358 - rs1130214(), rs1130233 - rs3730358 - rs1130214 - rs3803300(), rs2494732 - rs1130233(), rs2494732 - rs1130233 - rs3730358(), rs2494732 - rs1130233 - rs3730358 - rs1130214(), rs2494732 - rs1130233 - rs3730358 - rs1130214 - rs3803300(), rs2498804 - rs2494732(), rs2498804 - rs2494732 - rs1130233(), rs2498804 - rs2494732 - rs1130233 - rs3730358(), rs2498804 - rs2494732 - rs1130233 - rs3730358 - rs1130214(), rs2498804 - rs2494732 - rs1130233 - rs3730358 - rs1130214 - rs3803300(), rs3730358 - rs1130214(), rs3730358 - rs1130214 - rs3803300()	In conclusion, our findings, by showing the involvement of the AKT1 gene in both schizophrenia and bipolar disorder, support the role of AKT1 in the genetics of both disorders and add support to the view that there is some genetic overlap between them.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 132)

GO terms by PBA (count: 8)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	IDA[14749367]; TAS[21432781]	360
GO:0030212	hyaluronan metabolic process	biological process	IEA	3
GO:0006954	inflammatory response	biological process	IEA	23
GO:0005634	nucleus	cellular component	IDA; TAS[21432781]	283
GO:0030154	cell differentiation	biological process	TAS[21432781]	31
GO:0045087	innate immune response	biological process	TAS	49
GO:0004674	protein serine/threonine kinase activity	molecular function	IDA[10102273]; TAS[21432781]	27
GO:0004672	protein kinase activity	molecular function	TAS[10570282]	13

GO terms by database search (count: 124)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016567	protein ubiquitination	biological process	IEA	18
GO:0008637	apoptotic mitochondrial changes	biological process	IEA	4
GO:0007173	epidermal growth factor receptor signaling pathway	biological process	TAS	22
GO:0010507	negative regulation of autophagy	biological process	IMP[18387192]	3
GO:0007165	signal transduction	biological process	TAS[21432781]	136
GO:0042593	glucose homeostasis	biological process	IEA	19
GO:0030030	cell projection organization	biological process	IEA	3
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0030168	platelet activation	biological process	TAS	22
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	biological process	TAS[10748004]	8
GO:0033138	positive regulation of peptidyl-serine phosphorylation	biological process	IDA[19667065]	10
GO:0010748	negative regulation of plasma membrane long-chain fatty acid transport	biological process	IMP[16814735]	1
GO:0097193	intrinsic apoptotic signaling pathway	biological process	TAS	8
GO:0043325	phosphatidylinositol-3,4-bisphosphate binding	molecular function	IDA[19203586]	1
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	biological process	ISS	5
GO:0005515	protein binding	molecular function	IPI[11154276]	563
GO:0031659	positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle	biological process	IDA[18483258]	2
GO:0008286	insulin receptor signaling pathway	biological process	IMP[8978681]	15
GO:0016301	kinase activity	molecular function	IDA[14749367]	7
GO:1902176	negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	biological process	NAS[16604263]	4
GO:0006809	nitric oxide biosynthetic process	biological process	TAS[10376602]	8
GO:0019899	enzyme binding	molecular function	ISS	34
GO:0046329	negative regulation of JNK cascade	biological process	IEA	3
GO:0006412	translation	biological process	IEA	4
GO:0051000	positive regulation of nitric-oxide synthase activity	biological process	IMP[10376603]	5
GO:0045861	negative regulation of proteolysis	biological process	IMP[18387192]	2
GO:0006006	glucose metabolic process	biological process	IEA	10
GO:0035556	intracellular signal transduction	biological process	IDA[14749367]	38
GO:0001938	positive regulation of endothelial cell proliferation	biological process	IMP[19850054]	11
GO:0010975	regulation of neuron projection development	biological process	ISS	4
GO:1901215	negative regulation of neuron death	biological process	NAS[18221368]	6
GO:0006464	cellular protein modification process	biological process	TAS[10570282]	7
GO:0045600	positive regulation of fat cell differentiation	biological process	IMP[8940145]	9
GO:0005979	regulation of glycogen biosynthetic process	biological process	IMP[8940145]	2
GO:0030334	regulation of cell migration	biological process	IMP[19934221]; TAS[21432781]	9
GO:0005737	cytoplasm	cellular component	IDA[19203586]; ISS; TAS[21432781]	322
GO:0032094	response to food	biological process	IEA	2
GO:0006924	activation-induced cell death of T cells	biological process	IMP[14749367]	2
GO:0045429	positive regulation of nitric oxide biosynthetic process	biological process	IMP[10376603]	13
GO:0043536	positive regulation of blood vessel endothelial cell migration	biological process	IDA[20011604]	2
GO:0008283	cell proliferation	biological process	TAS[21432781]	37
GO:0010765	positive regulation of sodium ion transport	biological process	IEA	3
GO:1990418	response to insulin-like growth factor stimulus	biological process	ISS	2
GO:0034405	response to fluid shear stress	biological process	IMP[10376603]	6
GO:0030235	nitric-oxide synthase regulator activity	molecular function	IMP[10376603]	4
GO:0097011	cellular response to granulocyte macrophage colony-stimulating factor stimulus	biological process	IEA	1
GO:0048010	vascular endothelial growth factor receptor signaling pathway	biological process	TAS	12
GO:0090004	positive regulation of establishment of protein localization to plasma membrane	biological process	IMP[8940145]	6
GO:0005739	mitochondrion	cellular component	IEA	75
GO:0060644	mammary gland epithelial cell differentiation	biological process	TAS[21432781]	3
GO:0048011	neurotrophin TRK receptor signaling pathway	biological process	TAS	33
GO:0071260	cellular response to mechanical stimulus	biological process	IEA	12
GO:0018105	peptidyl-serine phosphorylation	biological process	IDA[16139227]	11
GO:0005829	cytosol	cellular component	IDA[21045808]; TAS	223
GO:0061024	membrane organization	biological process	TAS	14
GO:0007186	G-protein coupled receptor signaling pathway	biological process	TAS[10570282]	64
GO:0060709	glycogen cell differentiation involved in embryonic placenta development	biological process	IEA	1
GO:0032869	cellular response to insulin stimulus	biological process	IMP[16814735]; ISS	12
GO:0001934	positive regulation of protein phosphorylation	biological process	IDA[19057511]	15
GO:0031641	regulation of myelination	biological process	IEA	4
GO:0005547	phosphatidylinositol-3,4,5-trisphosphate binding	molecular function	IDA[19203586]	2
GO:0046777	protein autophosphorylation	biological process	TAS[16280327]	16
GO:0071364	cellular response to epidermal growth factor stimulus	biological process	IEA	3
GO:0010907	positive regulation of glucose metabolic process	biological process	IMP[16814735]	1
GO:0070141	response to UV-A	biological process	IDA[18483258]	2
GO:0007568	aging	biological process	IEA	22
GO:0038095	Fc-epsilon receptor signaling pathway	biological process	TAS	19
GO:0030163	protein catabolic process	biological process	IEA	5
GO:0005911	cell-cell junction	cellular component	IEA	16
GO:0046889	positive regulation of lipid biosynthetic process	biological process	IMP[8940145]	5
GO:0030307	positive regulation of cell growth	biological process	IDA[19203586]	8
GO:0001649	osteoblast differentiation	biological process	IEA	9
GO:0042802	identical protein binding	molecular function	IPI[7891724]	44
GO:0005819	spindle	cellular component	IEA	9
GO:0009408	response to heat	biological process	TAS[10958679]	12
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity	biological process	IDA[19057511]	11
GO:0032287	peripheral nervous system myelin maintenance	biological process	IEA	1
GO:0006915	apoptotic process	biological process	TAS	39
GO:0048015	phosphatidylinositol-mediated signaling	biological process	TAS	17
GO:0097194	execution phase of apoptosis	biological process	IEA	3
GO:0005654	nucleoplasm	cellular component	IDA; TAS	163
GO:0005978	glycogen biosynthetic process	biological process	IEA	4
GO:0015758	glucose transport	biological process	IEA	7
GO:0060716	labyrinthine layer blood vessel development	biological process	IEA	2
GO:0032270	positive regulation of cellular protein metabolic process	biological process	ISS	4
GO:0008543	fibroblast growth factor receptor signaling pathway	biological process	TAS	21
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IEA	91
GO:0010951	negative regulation of endopeptidase activity	biological process	IMP[18387192]	10
GO:0031295	T cell costimulation	biological process	TAS	6
GO:0048009	insulin-like growth factor receptor signaling pathway	biological process	IMP[8978681]	4
GO:0071456	cellular response to hypoxia	biological process	IEA	13
GO:0071889	14-3-3 protein binding	molecular function	IPI[10102273]	7
GO:0043491	protein kinase B signaling	biological process	IEA	4
GO:0045792	negative regulation of cell size	biological process	IEA	2
GO:0000060	protein import into nucleus, translocation	biological process	IMP[16280327]	4
GO:0006468	protein phosphorylation	biological process	IDA[11994271]	42
GO:0015630	microtubule cytoskeleton	cellular component	IDA	12
GO:0050999	regulation of nitric-oxide synthase activity	biological process	TAS	6
GO:0001893	maternal placenta development	biological process	IEA	1
GO:0007596	blood coagulation	biological process	TAS	44
GO:0006417	regulation of translation	biological process	IEA	5
GO:0010467	gene expression	biological process	TAS	41
GO:1900740	positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	biological process	TAS	6
GO:0051146	striated muscle cell differentiation	biological process	IEA	1
GO:0043066	negative regulation of apoptotic process	biological process	IDA[19203586]	46
GO:0045725	positive regulation of glycogen biosynthetic process	biological process	IMP[16814735]; NAS[17925406]	3
GO:0004712	protein serine/threonine/tyrosine kinase activity	molecular function	IDA[22797923]	4
GO:0006469	negative regulation of protein kinase activity	biological process	IMP[9373175]; ISS	7
GO:0007281	germ cell development	biological process	IEA	5
GO:0036064	ciliary basal body	cellular component	IEA	8
GO:0071407	cellular response to organic cyclic compound	biological process	IEA	5
GO:0031999	negative regulation of fatty acid beta-oxidation	biological process	IMP[16814735]	2
GO:0060416	response to growth hormone	biological process	ISS	2
GO:0006979	response to oxidative stress	biological process	ISS	11
GO:0031018	endocrine pancreas development	biological process	TAS	6
GO:0005080	protein kinase C binding	molecular function	IEA	7
GO:0046326	positive regulation of glucose import	biological process	IMP[16814735]	7
GO:0005524	ATP binding	molecular function	IC[11994271]; IDA[16540465]	118
GO:0090201	negative regulation of release of cytochrome c from mitochondria	biological process	ISS	5
GO:0046209	nitric oxide metabolic process	biological process	TAS	5
GO:0045907	positive regulation of vasoconstriction	biological process	IEA	12
GO:0016310	phosphorylation	biological process	IDA[20333297]	9
GO:1901976	regulation of cell cycle checkpoint	biological process	TAS[21432781]	1
GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	biological process	IEA	7

Gene related KEGG pathways (count: 25)

KEGG pathways by PBA (count: 8)

ID	Name	No. of Genes in BDgene
hsa05214	Glioma	9
hsa04010	MAPK signaling pathway	39
hsa05221	Acute myeloid leukemia	7
hsa04210	Apoptosis	12
hsa05222	Small cell lung cancer	8
hsa04530	Tight junction	18
hsa04510	Focal adhesion	22
hsa04920	Adipocytokine signaling pathway	8

KEGG pathways by database search (count: 17)

ID	Name	No. of Genes in BDgene
hsa05211	Renal cell carcinoma	6
hsa05210	Colorectal cancer	14
hsa05213	Endometrial cancer	10
hsa05212	Pancreatic cancer	10
hsa05215	Prostate cancer	18
hsa04012	ErbB signaling pathway	13
hsa05218	Melanoma	7
hsa05220	Chronic myeloid leukemia	6
hsa04150	mTOR signaling pathway	5
hsa05223	Non-small cell lung cancer	8
hsa04370	VEGF signaling pathway	11
hsa04660	T cell receptor signaling pathway	13
hsa04630	Jak-STAT signaling pathway	14
hsa04620	Toll-like receptor signaling pathway	10
hsa04664	Fc epsilon RI signaling pathway	13
hsa04662	B cell receptor signaling pathway	8
hsa04910	Insulin signaling pathway	10

Gene related BioCarta pathways (count: 30)

BioCarta pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
badPathway	Regulation of BAD phosphorylation	9

BioCarta pathways by database search (count: 29)

ID	Name	No. of Genes in BDgene
il4Pathway	IL 4 signaling pathway	2
igf1mtorpathway	Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway	4
mTORPathway	mTOR Signaling Pathway	2
plcPathway	Phospholipase C Signaling Pathway	4
trkaPathway	Trka Receptor Signaling Pathway	4
longevityPathway	The IGF-1 Receptor and Longevity	6
gcrPathway	Corticosteroids and cardioprotection	9
RacCycDPathway	Influence of Ras and Rho proteins on G1 to S Transition	3
tffPathway	Trefoil Factors Initiate Mucosal Healing	4
ptdinsPathway	Phosphoinositides and their downstream targets.	6
hdacPathway	Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK)	10
telPathway	Telomeres, Telomerase, Cellular Aging, and Immortality	4
crebPathway	Transcription factor CREB and its extracellular signals	8
rasPathway	Ras Signaling Pathway	5
erk5Pathway	Role of Erk5 in Neuronal Survival	5
edg1Pathway	Phospholipids as signalling intermediaries	4
p53hypoxiaPathway	Hypoxia and p53 in the Cardiovascular system	6
no1Pathway	Actions of Nitric Oxide in the Heart	9
nfatPathway	NFAT and Hypertrophy of the heart (Transcription in the broken heart)	11
hcmvPathway	Human Cytomegalovirus and Map Kinase Pathways	5
achPathway	Role of nicotinic acetylcholine receptors in the regulation of apoptosis	6
aktPathway	AKT Signaling Pathway	6
igf1rPathway	Multiple antiapoptotic pathways from IGF-1R signaling lead to BAD phosphorylation	5
gleevecpathway	Inhibition of Cellular Proliferation by Gleevec	4
ptenPathway	PTEN dependent cell cycle arrest and apoptosis	3
chemicalPathway	Apoptotic Signaling in Response to DNA Damage	2
il2rbPathway	IL-2 Receptor Beta Chain in T cell Activation	6
eif4Pathway	Regulation of eIF4e and p70 S6 Kinase	2
gsk3Pathway	Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages	5

Gene related interactors from protein-protein interactions data in HPRD (count: 103)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
AKT1	ITGB3	NO	in vitro	10896934
AKT1	RAF1	NO	in vitro;in vivo	10576742 , 19058874
AKT1	FOXO1	NO	in vitro;in vivo	10358014
AKT1	PTEN	NO	in vitro;in vivo	12077256 , 10866658 , 12297295
AKT1	TCL1A	NO	in vitro;in vivo;yeast 2-hybrid	10983986 , 12009899
AKT1	TNFSF11	NO	in vitro;in vivo	10635328
AKT1	S1PR1	NO	in vitro;in vivo	11583630
AKT1	STAT1	NO	in vivo	15284024
AKT1	BAD	NO	in vitro;in vivo	9381178
AKT1	METTL1	NO	in vitro	15861136
AKT1	TERT	NO	in vitro;in vivo	10224060
AKT1	PDE3B	NO	in vitro;in vivo	10454575
AKT1	SH2B2	NO	in vitro;in vivo	16141217
AKT1	XIAP	NO	in vitro;in vivo	14645242
AKT1	AR	NO	in vitro;in vivo	11404460 , 11156376 , 16210317
AKT1	NR4A1	NO	in vitro;in vivo	11274386
AKT1	MST1R	YES	in vitro	12919677
AKT1	EZH2	YES	in vitro;in vivo	16224021
AKT1	APPL1	NO	in vitro;in vivo	12621049
AKT1	MAP2K4	NO	in vitro;in vivo	11707464
AKT1	PRKCQ	NO	in vivo	11410591
AKT1	HIST2H2BE	NO	in vivo	9973250
AKT1	WNK1	NO	in vitro;in vivo	14611643
AKT1	GATA2	NO	in vivo	15837948
AKT1	TSC1	NO	in vivo	12167664
AKT1	IRS1	NO	in vivo	10497255
AKT1	CDKN1A	NO	in vitro;in vivo	11756412
AKT1	MDM2	NO	in vitro;in vivo	12145204 , 11504915 , 15527798
AKT1	BRAF	NO	in vitro;in vivo	10869359 , 11410590
AKT1	CCDC88A	NO	in vitro;in vivo	16139227
AKT1	AKT1S1	NO	in vitro;in vivo	12524439 , 14973226
AKT1	RAB3D	NO	in vitro	11903042
AKT1	CASP3	NO	in vitro;in vivo	12124386
AKT1	YWHAZ	NO	in vitro;in vivo	11956222
AKT1	PPL	NO	in vitro;in vivo	12176997
AKT1	AHNAK	NO	in vitro	11535620
AKT1	PAK1	NO	in vivo	12138087
AKT1	KRT10	NO	in vivo	11585925
AKT1	MAPKAPK2	NO	in vitro;in vivo	11042204
AKT1	PPM1A	YES	in vitro	15016818
AKT1	PTPN1	NO	in vitro;in vivo	11579209
AKT1	CHUK	NO	in vitro;in vivo	10485710
AKT1	PFKFB2	NO	in vitro	12853467
AKT1	GSK3A	NO	in vitro;in vivo	11035810 , 11884598 , 8524413
AKT1	PKN2	NO	in vitro;in vivo;yeast 2-hybrid	10926925
AKT1	PEA15	NO	in vitro;in vivo	12808093
AKT1	CHEK1	YES	in vitro	12062056
AKT1	HMOX1	NO	in vitro;in vivo	15581622
AKT1	MS4A2	NO	in vivo	19356729
AKT1	TSC2	NO	in vitro	12438239 , 12150915
AKT1	MAP3K11	NO	in vitro;in vivo	12458207
AKT1	UXS1	NO	in vitro;yeast 2-hybrid	11877387
AKT1	CASP9	NO	in vitro	9812896
AKT1	TRIB3	NO	in vitro;in vivo	12791994
AKT1	THEM4	NO	in vitro;in vivo;yeast 2-hybrid	11598301
AKT1	SMAD7	NO	in vivo	16362038
AKT1	GAB2	NO	in vitro;in vivo	11782427
AKT1	MAP3K8	NO	in vivo	12138205
AKT1	ESR2	NO	in vivo	15001646
AKT1	AKTIP	NO	in vitro;in vivo	14749367
AKT1	APLP2	NO	in vivo	10490823
AKT1	ILK	NO	in vitro;in vivo	9736715 , 12176337 , 12149249 , 11445557 , 11546794 , 14500673 , 11278835
AKT1	NCF1	NO	in vitro	12734380
AKT1	MDM4	NO	in vitro	16163388
AKT1	TCL1B	NO	in vivo;yeast 2-hybrid	10983986
AKT1	BCL10	NO	in vitro	16280327
AKT1	AKT2	NO	in vitro;in vivo	12176337 , 12149249 , 11445557 , 11546794 , 14500673 , 9736715 , 11278835
AKT1	RHEBL1	YES	in vivo	16098514
AKT1	GATA1	NO	in vitro;in vivo	16107690
AKT1	TCL6	NO	in vivo	11710897
AKT1	IRAK1	NO	in vitro;in vivo	11976320
AKT1	PDK2	NO	in vitro	10438924
AKT1	EIF4EBP1	NO	in vitro	11777913
AKT1	MAPK8IP1	YES	in vivo	12194869
AKT1	SRC	NO	in vitro;in vivo	11445557
AKT1	FOXO4	NO	in vitro;in vivo	11313479 , 10217147 , 11689711 , 16272144
AKT1	PRG2	NO	in vitro;in vivo	10698680 , 12149249 , 11445557 , 14500673 , 11278835 , 12176337 , 11546794 , 9736715
AKT1	MTCP1	NO	in vitro;in vivo	11707444
AKT1	GRB10	NO	in vivo	11809791
AKT1	HSP90AB1	NO	in vivo	10995457
AKT1	IMPDH2	NO	in vitro;in vivo;yeast 2-hybrid	10930578
AKT1	SORBS2	YES	in vitro;in vivo;yeast 2-hybrid	15784622
AKT1	CDKN1B	NO	in vitro;in vivo	12244301
AKT1	YAP1	NO	in vitro;in vivo	12535517
AKT1	CAMKK1	NO	in vitro	10833263
AKT1	PHB2	NO	in vivo;yeast 2-hybrid	15173318
AKT1	EP300	NO	in vitro	11116148
AKT1	RPS6KB1	NO	in vitro	11438723
AKT1	PDPK1	NO	in vitro;in vivo	11825911 , 11438723 , 10698680 , 12149249 , 11445557 , 14500673 , 11278835 , 9368760 , 10226025
AKT1	SMAD3	NO	in vivo	16362038
AKT1	VEGFA	NO	in vivo	17318185
AKT1	SMAD4	NO	in vivo	16362038
AKT1	PRKDC	NO	in vitro	15262962
AKT1	PLXNA1	NO	in vitro;yeast 2-hybrid	15187088
AKT1	IKBKB	NO	in vitro;in vivo	10485711
AKT1	MAP3K5	NO	in vitro;in vivo	11154276
AKT1	FOXO3	YES	in vitro;in vivo	10102273
AKT1	SMAD2	NO	in vivo	16362038
AKT1	BRCA1	NO	in vitro;in vivo	10542266
AKT1	FANCA	YES	in vitro	11855836
AKT1	PPP2CA	NO	in vitro;in vivo	11438723 , 12637511
AKT1	YBX1	NO	in vitro;in vivo	16354698
AKT1	TOPBP1	NO	in vitro;in vivo	17006541

Related other genetic factors

Gene related SNPs (count: 12)

Literature-origin SNPs (count: 6)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2498804	chr14:104766758 - 104766758(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant	2(2/0/0)
rs3803300	chr14:104803442 - 104803442(1)	3_prime_UTR_variant; downstream_gene_variant	2(2/0/0)
rs2494732	chr14:104772855 - 104772855(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	2(1/1/0)
rs3730358	chr14:104780070 - 104780070(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs1130233	chr14:104773557 - 104773557(1)	downstream_gene_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant; upstream_gene_variant	1(1/0/0)
rs1130214	chr14:104793397 - 104793397(1)	5_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_variant	1(1/0/0)

LD-proxies (count: 6)

rs_ID	Location	Functional Annotation
rs10136000	chr14:104787244 - 104787244(1)	intron_variant; upstream_gene_variant
rs3001371	chr14:104776494 - 104776494(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs2494730	chr14:104767084 - 104767084(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant
rs10142069	chr14:104785733 - 104785733(1)	intron_variant; non_coding_transcript_variant
rs2494731	chr14:104771343 - 104771343(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs2498802	chr14:104768105 - 104768105(1)	downstream_gene_variant; intron_variant; NMD_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)
14q32	chr14:89300000-107043718	1 (0/1/0)
Chr 14	chr14:0-107043718	2 (0/2/0)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 2)

Reference	Description	Result Category
22277669	AKT1 gene variations appeared to impact the risk for a class of psychiatric symptoms, comprising SCZ and BPD. Our findings support the view that AKT1 genetic variants are shared by both BPD and SCZ.	Positive
20214684	In conclusion, our findings, by showing the involvement of the AKT1 gene in both schizophrenia and bipolar disorder, support the role of AKT1 in the genetics of both disorders and add support to the view that there is some genetic overlap between them.	Positive

Overlap with SZ from candidate gene intersection analysis (count: 16)

Reference	ID in SZGene	Result Category
17300918	6	Negative
14745448	6	Positive
15522255	6	Positive
20421846	6	Positive
18198266	6	Negative
19931325	6	Negative
17825267	6	Positive
19158809	6	Positive
17915974	6	Positive
16026766	6	Positive
16987250	6	Negative
20214684	6	Positive
15263908	6	Negative
17383860	6	Trend
16395129	6	Negative
16583435	6	Positive

Gene relationship with MDD

View in gBrowse

Region: chr14:104769349..104795751 View in gBrowse