Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	ACE
Previous Symbol	DCP1
Symbol Alias	ACE1, CD143
Approved Name	angiotensin I converting enzyme
Previous Name	angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
Name Alias	peptidyl-dipeptidase A
Location	17q23.3
Position	chr17:63477061-63498380, 1
External Links	HGNC: 2707 Entrez Gene: 1636 Ensembl: ENSG00000159640 UCSC: uc002jau.2
No. of Studies	5 (Positive: 2; Negative: 3; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 5)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Mendlewicz, J.,2005	Other variant: ACE1_dbSNP4295	In conclusion, our findings do not support a major contribution of SP-related genes in UPAD and BPAD, but provides some evidence of an ACE influence in treatment response to antidepressants.	Negative	Comment on Study
Zou, Y. F.,2011	Other variant: ACE_insertion/deletion	This meta-analysis suggests that there may be an association of ACE gene I/D polymorphism with BPD in Asians.	Positive	Comment on Study
Furlong, R. A.,2000	Other variant: ACE_insertion/deletion	These results do not support the ACE gene having a major role in the etiology of either bipolar or unipolar affective disorders.	Negative	Comment on Study
Meira-Lima, I. V.,2000	Other variant: ACE_insertion/deletion	The ACE I/D variant did not show any difference in allelic frequencies and genotypic distribution between the groups.	Negative	Comment on Study
Arinami, T.,1996	Other variant: ACE_insertion/deletion	The D allele was significantly more frequent in the patients with bipolar affective disorders than in the controls, and the DD genotype was significantly more frequent in the patients with bipolar affective disorders than in the controls.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 51)

GO terms by PBA (count: 6)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016021	integral component of membrane	cellular component	IEA	219
GO:0003779	actin binding	molecular function	IDA[16186248]	24
GO:0031404	chloride ion binding	molecular function	IDA[12540854]	1
GO:0008237	metallopeptidase activity	molecular function	IDA[1320019]; ISS	8
GO:0005886	plasma membrane	cellular component	IDA[16186248]; TAS	360
GO:0005764	lysosome	cellular component	IDA[11076943]	16

GO terms by database search (count: 45)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0043171	peptide catabolic process	biological process	IDA[15283675]	3
GO:0008217	regulation of blood pressure	biological process	ISS	12
GO:0002019	regulation of renal output by angiotensin	biological process	IC[1668266]	2
GO:0042447	hormone catabolic process	biological process	IDA[7876104]; ISS[11303049]	1
GO:0008238	exopeptidase activity	molecular function	IDA[2983326]	1
GO:1900086	positive regulation of peptidyl-tyrosine autophosphorylation	biological process	ISS	1
GO:0032943	mononuclear cell proliferation	biological process	IC[7876104]	1
GO:0071838	cell proliferation in bone marrow	biological process	ISS	1
GO:0004180	carboxypeptidase activity	molecular function	IEA	3
GO:0061098	positive regulation of protein tyrosine kinase activity	biological process	ISS	5
GO:0003081	regulation of systemic arterial blood pressure by renin-angiotensin	biological process	IC[1668266]; IMP[174834]	2
GO:0005515	protein binding	molecular function	IPI[16186248]	563
GO:0050482	arachidonic acid secretion	biological process	IDA[17077303]	8
GO:0042312	regulation of vasodilation	biological process	IC[4322742]	4
GO:0014910	regulation of smooth muscle cell migration	biological process	ISS	2
GO:0005576	extracellular region	cellular component	TAS	97
GO:1902033	regulation of hematopoietic stem cell proliferation	biological process	IC[7876104]; ISS	1
GO:0019229	regulation of vasoconstriction	biological process	IC[1668266]	10
GO:0006508	proteolysis	biological process	IEA	34
GO:0005615	extracellular space	cellular component	IDA[15283675]	85
GO:0031434	mitogen-activated protein kinase kinase binding	molecular function	IPI[14615289]	4
GO:0051019	mitogen-activated protein kinase binding	molecular function	IPI[14615289]	3
GO:0060177	regulation of angiotensin metabolic process	biological process	IDA[1851160]	1
GO:0001822	kidney development	biological process	IMP[16116425]	13
GO:0002005	angiotensin catabolic process in blood	biological process	IC[1668266]	1
GO:0008270	zinc ion binding	molecular function	IDA[12540854]	77
GO:0060218	hematopoietic stem cell differentiation	biological process	IC[7876104]	1
GO:0002003	angiotensin maturation	biological process	TAS	3
GO:1903597	negative regulation of gap junction assembly	biological process	ISS	1
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	biological process	TAS[23257181]	7
GO:0044267	cellular protein metabolic process	biological process	TAS	28
GO:0008241	peptidyl-dipeptidase activity	molecular function	IDA[1320019]; ISS[11303049]	1
GO:2000170	positive regulation of peptidyl-cysteine S-nitrosylation	biological process	ISS	1
GO:0008240	tripeptidyl-peptidase activity	molecular function	IDA[2983326]	3
GO:0031711	bradykinin receptor binding	molecular function	IPI[17077303]	2
GO:0050435	beta-amyloid metabolic process	biological process	IDA[18495113]	1
GO:0002446	neutrophil mediated immunity	biological process	ISS	4
GO:0001974	blood vessel remodeling	biological process	IC[1668266]	8
GO:0009897	external side of plasma membrane	cellular component	IDA[9449382]	21
GO:0005768	endosome	cellular component	IDA[17077303]	27
GO:0008144	drug binding	molecular function	IDA[1320019]	21
GO:0060047	heart contraction	biological process	ISS	3
GO:0004175	endopeptidase activity	molecular function	IDA[15283675]	8
GO:0070062	extracellular vesicular exosome	cellular component	IDA[15326289]	176
GO:0007283	spermatogenesis	biological process	ISS	29

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04614	Renin-angiotensin system	4

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
ace2Pathway	Angiotensin-converting enzyme 2 regulates heart function	4

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ACE	AGTR2	NO	in vivo	11459796

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Zhang[2009]_281	chr17:63489383-63696899 (Affymetrix SNP 6.0 array reference genome)	207516		Singleton deletions

Gene related other variants (count: 2)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
ACE1_dbSNP4295	point mutation		1 (0/1/0)
ACE_insertion/deletion	insertion/deletion		4 (2/2/0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
17q11-q23	chr17:25100000-64600000	1 (0/1/0)
17q23-q24	chr17:59500000-72900000	1 (0/1/0)
17q11-25	chr17:25100000-83257441	1 (1/0/0)
Chr 17	chr17:0-83257441	3 (0/3/0)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
8931914	There is no significant difference in the frequencies of the allele and the genotype between the controls and schizophrenics.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 8)

Reference	ID in SZGene	Result Category
20010451	114	Positive
11408790	114	Negative
12729939	114	Negative
18986708	114	Positive
8931914	114	Negative
15978554	114	Negative
19508883	114	Negative
11920854	114	Negative

Gene relationship with MDD

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

Reference	Description	Category in MDD
11121171	These results do not support the ACE gene having a major role in the etiology of either bipolar or unipolar affective disorders.	Negative
8931914	The D allele was significantly more frequent in the patients with major depression than in the controls, and the DD genotype was significantly more frequent in the patients with major depression than in the controls.	Positive

Overlap with MDD from candidate gene intersection analysis (count: 6)

Reference	Description	Category in MDD	Link in MK4MDD
12476328	We found a significant increase in the Gbeta3 T allele (OR = 1.61, 95% CI 1.17-2.2, P = 0.0035) and a marginal altered genotype distribution of the ACE ID polymorphism with decrease in the II genotypes (chi(2) = 6.43, df=3, P = 0.04) in the patients' group. Analysing the data for both genes we found that the combined actions of ACE and Gbeta3 genotypes accumulate in carriers of the ACE D allele (ID and DD) and Gbeta3 TT homozygotes with ID/DD-TT carriers showing a more than five-fold increase in risk for major depression (crude OR = 5.83, 95% CI 1.99-17.08, P = 0.0002).	Pos	ACE
22808171	We detected intensive DNA methylation within a recently described, functional important region of the ACE gene promoter including hypermethylation in depressed patients (p = 0.008)	Pos	ACE
19713413	Haplotype frequency analysis revealed that the -240T/-93T combination was significantly over-represented in patients with MDD in comparison with controls (13.6% and 6.8%, p=0.002 on chi(2) test, empirical p=0.004)	Pos	ACE
16924268	In the screening sample, two SNPs within the ACE gene were significantly associated with unipolar major depression.	Pos	ACE
11920854	There was no evidence for allelic or genotypic association of the polymorphism with any of the disorders or with tardive dyskinesia (TD) in patients with schizophrenia	Neg	ACE
22688325	The results showed, for the first time, that GG genotype of ACE A2350G was significantly associated with MDD among Iranian participants (P=0.001; odds ratio (OR)=6.2; 95% confidence interval (CI)=2.1-18.3).	Pos	ACE

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Region: chr17:63477061..63498380 View in gBrowse