• Gene id: 1636

Gene Summary

• Gene Symbol: ACE   Gene   UCSC   Ensembl
• Aliases: ACE1, CD143, DCP, DCP1
• Gene name: angiotensin I converting enzyme
• Alternate names: angiotensin-converting enzyme, CD143 antigen, angiotensin I converting enzyme (peptidyl-dipeptidase A) 1, angiotensin converting enzyme, somatic isoform, carboxycathepsin, dipeptidyl carboxypeptidase 1, dipeptidyl carboxypeptidase I, kininase II, peptidas,
• Gene location: 17q23.3 (63477060: 63498379)     Exons: 26     NC_000017.11
• Gene summary(Entrez): This gene encodes an enzyme involved in catalyzing the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-elec
• OMIM: 106180

SNPs

rs398123027

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.35943953G>A
NC_000006.11   g.35911730G>A
NG_033897.1   g.85684C>T
NM_052961.4   c.2860C>T
NM_052961.3   c.2860C>T
NM_001193476.2   c.2860C>T
NM_001193476.1   c.2860C>T
NM_138718.2   c.2545C>T
XM_011514294.3   c.2782C>T
XM_017010235.1   c.2860C>T
NP_4431  

rs397515622

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.55491203C>A
NC_000015.9   g.55783401C>A
NG_021213.1   g.22032G>T
NM_130810.4   c.325G>T
NM_130810.3   c.325G>T
NM_001033559.2   c.325G>T
NM_001033560.1   c.325G>T
NR_037923.1   n.580G>T
NP_570722.2   p.Glu109Ter
NP_001028731.1   p.Glu109Ter
NP_001028732  

rs142724470

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.35951201C>T
NC_000006.11   g.35918978C>T
NG_033897.1   g.78436G>A
NM_052961.4   c.2434G>A
NM_052961.3   c.2434G>A
NM_001193476.2   c.2434G>A
NM_001193476.1   c.2434G>A
NM_138718.2   c.2119G>A
XM_011514294.3   c.2356G>A
XM_017010235.1   c.2434G>A
NP_4431  

rs140210148

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.36012301C>T
NC_000006.11   g.35980078C>T
NG_033897.1   g.17336G>A
NM_052961.4   c.260G>A
NM_052961.3   c.260G>A
NM_001193476.2   c.260G>A
NM_001193476.1   c.260G>A
NM_138718.2   c.260G>A
XM_011514294.3   c.260G>A
XR_926055.3   n.370G>A
XM_017010235.1   c.

Protein Summary

• Protein general information: P12821  
  • Name: Angiotensin converting enzyme (ACE) (EC 3.2.1. ) (EC 3.4.15.1) (Dipeptidyl carboxypeptidase I) (Kininase II) (CD antigen CD143) [Cleaved into: Angiotensin converting enzyme, soluble form]
  • Length: 1306  
  • Mass: 149,715
  • Tissue specificity: Expressed in testis. {ECO
• Sequence:

  MGAASGRRGPGLLLPLPLLLLLPPQPALALDPGLQPGNFSADEAGAQLFAQSYNSSAEQVLFQSVAASWAHDTNI
  TAENARRQEEAALLSQEFAEAWGQKAKELYEPIWQNFTDPQLRRIIGAVRTLGSANLPLAKRQQYNALLSNMSRI
  YSTAKVCLPNKTATCWSLDPDLTNILASSRSYAMLLFAWEGWHNAAGIPLKPLYEDFTALSNEAYKQDGFTDTGA
  YWRSWYNSPTFEDDLEHLYQQLEPLYLNLHAFVRRALHRRYGDRYINLRGPIPAHLLGDMWAQSWENIYDMVVPF
  PDKPNLDVTSTMLQQGWNATHMFRVAEEFFTSLELSPMPPEFWEGSMLEKPADGREVVCHASAWDFYNRKDFRIK
  QCTRVTMDQLSTVHHEMGHIQYYLQYKDLPVSLRRGANPGFHEAIGDVLALSVSTPEHLHKIGLLDRVTNDTESD
  INYLLKMALEKIAFLPFGYLVDQWRWGVFSGRTPPSRYNFDWWYLRTKYQGICPPVTRNETHFDAGAKFHVPNVT
  PYIRYFVSFVLQFQFHEALCKEAGYEGPLHQCDIYRSTKAGAKLRKVLQAGSSRPWQEVLKDMVGLDALDAQPLL
  KYFQPVTQWLQEQNQQNGEVLGWPEYQWHPPLPDNYPEGIDLVTDEAEASKFVEEYDRTSQVVWNEYAEANWNYN
  TNITTETSKILLQKNMQIANHTLKYGTQARKFDVNQLQNTTIKRIIKKVQDLERAALPAQELEEYNKILLDMETT
  YSVATVCHPNGSCLQLEPDLTNVMATSRKYEDLLWAWEGWRDKAGRAILQFYPKYVELINQAARLNGYVDAGDSW
  RSMYETPSLEQDLERLFQELQPLYLNLHAYVRRALHRHYGAQHINLEGPIPAHLLGNMWAQTWSNIYDLVVPFPS
  APSMDTTEAMLKQGWTPRRMFKEADDFFTSLGLLPVPPEFWNKSMLEKPTDGREVVCHASAWDFYNGKDFRIKQC
  TTVNLEDLVVAHHEMGHIQYFMQYKDLPVALREGANPGFHEAIGDVLALSVSTPKHLHSLNLLSSEGGSDEHDIN
  FLMKMALDKIAFIPFSYLVDQWRWRVFDGSITKENYNQEWWSLRLKYQGLCPPVPRTQGDFDPGAKFHIPSSVPY
  IRYFVSFIIQFQFHEALCQAAGHTGPLHKCDIYQSKEAGQRLATAMKLGFSRPWPEAMQLITGQPNMSASAMLSY
  FKPLLDWLRTENELHGEKLGWPQYNWTPNSARSEGPLPDSGRVSFLGLDLDAQQARVGQWLLLFLGIALLVATLG
  LSQRLFSIRHRSLHRHSHGPQFGSEVELRHS

• Structural information:
  • Interpro: IPR001548  
  • Prosite: PS00142
  • CDD: cd06461
  • PDB: 1O86 1O8A 1UZE 1UZF 2C6F 2C6N 2IUL 2IUX 2OC2 2XY9 2XYD 2YDM 3BKK 3BKL 3L3N 3NXQ 4APH 4APJ 4BXK 4BZR 4BZS 4C2N 4C2O 4C2P 4C2Q 4C2R 4CA5 4CA6 4UFA 4UFB 5AM8 5AM9 5AMA 5AMB 5AMC 6EN5
  • PDBsum: 1O86 1O8A 1UZE 1UZF 2C6F 2C6N 2IUL 2IUX 2OC2 2XY9 2XYD 2YDM 3BKK 3BKL 3L3N 3NXQ 4APH 4APJ 4BXK 4BZR 4BZS 4C2N 4C2O 4C2P 4C2Q 4C2R 4CA5 4CA6 4UFA 4UFB 5AM8 5AM9 5AMA 5AMB 5AMC 6EN5
  • STRING: ENSP00000290866
• Other Databases: GeneCards:  ACE  Malacards:  ACE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001822	kidney development	IMP	biological process
GO:0001974	blood vessel remodeling	IC	biological process
GO:0002003	angiotensin maturation	TAS	biological process
GO:0002003	angiotensin maturation	TAS	biological process
GO:0002003	angiotensin maturation	TAS	biological process
GO:0002005	angiotensin catabolic process in blood	IC	biological process
GO:0002019	regulation of renal output by angiotensin	IC	biological process
GO:0002446	neutrophil mediated immunity	ISS	biological process
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	TAS	biological process
GO:0003081	regulation of systemic arterial blood pressure by renin-angiotensin	IC	biological process
GO:0003081	regulation of systemic arterial blood pressure by renin-angiotensin	IMP	biological process
GO:0003779	actin binding	IDA	molecular function
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0004180	carboxypeptidase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007283	spermatogenesis	ISS	biological process
GO:0008144	drug binding	IDA	molecular function
GO:0008217	regulation of blood pressure	ISS	biological process
GO:0008217	regulation of blood pressure	ISS	biological process
GO:0008237	metallopeptidase activity	ISS	molecular function
GO:0008237	metallopeptidase activity	IDA	molecular function
GO:0008237	metallopeptidase activity	IDA	molecular function
GO:0008237	metallopeptidase activity	IDA	molecular function
GO:0008237	metallopeptidase activity	IDA	molecular function
GO:0008238	exopeptidase activity	IDA	molecular function
GO:0008240	tripeptidyl-peptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	ISS	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0014910	regulation of smooth muscle cell migration	ISS	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0019229	regulation of vasoconstriction	IC	biological process
GO:0031404	chloride ion binding	IDA	molecular function
GO:0031434	mitogen-activated protein kinase kinase binding	IPI	molecular function
GO:0031711	bradykinin receptor binding	IPI	molecular function
GO:0032943	mononuclear cell proliferation	IC	biological process
GO:0042312	regulation of vasodilation	IC	biological process
GO:0042447	hormone catabolic process	ISS	biological process
GO:0042447	hormone catabolic process	IDA	biological process
GO:0043171	peptide catabolic process	IDA	biological process
GO:0043171	peptide catabolic process	IDA	biological process
GO:0050435	beta-amyloid metabolic process	IDA	biological process
GO:0050435	beta-amyloid metabolic process	IDA	biological process
GO:0050482	arachidonic acid secretion	IDA	biological process
GO:0051019	mitogen-activated protein kinase binding	IPI	molecular function
GO:0060047	heart contraction	ISS	biological process
GO:0060177	regulation of angiotensin metabolic process	IDA	biological process
GO:0060218	hematopoietic stem cell differentiation	IC	biological process
GO:0061098	positive regulation of protein tyrosine kinase activity	ISS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070573	metallodipeptidase activity	EXP	molecular function
GO:0070573	metallodipeptidase activity	EXP	molecular function
GO:0070573	metallodipeptidase activity	EXP	molecular function
GO:0070573	metallodipeptidase activity	EXP	molecular function
GO:0071838	cell proliferation in bone marrow	ISS	biological process
GO:1900086	positive regulation of peptidyl-tyrosine autophosphorylation	ISS	biological process
GO:1902033	regulation of hematopoietic stem cell proliferation	ISS	biological process
GO:1902033	regulation of hematopoietic stem cell proliferation	IC	biological process
GO:1903597	negative regulation of gap junction assembly	ISS	biological process
GO:2000170	positive regulation of peptidyl-cysteine S-nitrosylation	ISS	biological process
GO:0001822	kidney development	IMP	biological process
GO:0001974	blood vessel remodeling	IC	biological process
GO:0002003	angiotensin maturation	TAS	biological process
GO:0002003	angiotensin maturation	TAS	biological process
GO:0002003	angiotensin maturation	TAS	biological process
GO:0002005	angiotensin catabolic process in blood	IC	biological process
GO:0002019	regulation of renal output by angiotensin	IC	biological process
GO:0002446	neutrophil mediated immunity	ISS	biological process
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	TAS	biological process
GO:0003081	regulation of systemic arterial blood pressure by renin-angiotensin	IC	biological process
GO:0003081	regulation of systemic arterial blood pressure by renin-angiotensin	IMP	biological process
GO:0003779	actin binding	IDA	molecular function
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0004180	carboxypeptidase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0008144	drug binding	IDA	molecular function
GO:0008217	regulation of blood pressure	ISS	biological process
GO:0008217	regulation of blood pressure	ISS	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	ISS	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IDA	molecular function
GO:0008237	metallopeptidase activity	IDA	molecular function
GO:0008237	metallopeptidase activity	IDA	molecular function
GO:0008237	metallopeptidase activity	IDA	molecular function
GO:0008238	exopeptidase activity	IDA	molecular function
GO:0008240	tripeptidyl-peptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IEA	molecular function
GO:0008241	peptidyl-dipeptidase activity	ISS	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0014910	regulation of smooth muscle cell migration	ISS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0019229	regulation of vasoconstriction	IC	biological process
GO:0031404	chloride ion binding	IDA	molecular function
GO:0031434	mitogen-activated protein kinase kinase binding	IPI	molecular function
GO:0031711	bradykinin receptor binding	IPI	molecular function
GO:0032943	mononuclear cell proliferation	IC	biological process
GO:0042312	regulation of vasodilation	IC	biological process
GO:0042447	hormone catabolic process	ISS	biological process
GO:0042447	hormone catabolic process	IDA	biological process
GO:0043171	peptide catabolic process	IDA	biological process
GO:0043171	peptide catabolic process	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0050435	beta-amyloid metabolic process	IDA	biological process
GO:0050435	beta-amyloid metabolic process	IDA	biological process
GO:0050482	arachidonic acid secretion	IDA	biological process
GO:0051019	mitogen-activated protein kinase binding	IPI	molecular function
GO:0060047	heart contraction	ISS	biological process
GO:0060177	regulation of angiotensin metabolic process	IDA	biological process
GO:0060218	hematopoietic stem cell differentiation	IC	biological process
GO:0061098	positive regulation of protein tyrosine kinase activity	ISS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070573	metallodipeptidase activity	EXP	molecular function
GO:0070573	metallodipeptidase activity	EXP	molecular function
GO:0070573	metallodipeptidase activity	EXP	molecular function
GO:0070573	metallodipeptidase activity	EXP	molecular function
GO:0071838	cell proliferation in bone marrow	ISS	biological process
GO:1900086	positive regulation of peptidyl-tyrosine autophosphorylation	ISS	biological process
GO:1902033	regulation of hematopoietic stem cell proliferation	ISS	biological process
GO:1902033	regulation of hematopoietic stem cell proliferation	IC	biological process
GO:1903597	negative regulation of gap junction assembly	ISS	biological process
GO:2000170	positive regulation of peptidyl-cysteine S-nitrosylation	ISS	biological process
GO:0001822	kidney development	IMP	biological process
GO:0001974	blood vessel remodeling	IC	biological process
GO:0002003	angiotensin maturation	TAS	biological process
GO:0002003	angiotensin maturation	TAS	biological process
GO:0002003	angiotensin maturation	TAS	biological process
GO:0002005	angiotensin catabolic process in blood	IC	biological process
GO:0002019	regulation of renal output by angiotensin	IC	biological process
GO:0002446	neutrophil mediated immunity	ISS	biological process
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	TAS	biological process
GO:0003081	regulation of systemic arterial blood pressure by renin-angiotensin	IC	biological process
GO:0003081	regulation of systemic arterial blood pressure by renin-angiotensin	IMP	biological process
GO:0003779	actin binding	IDA	molecular function
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007283	spermatogenesis	ISS	biological process
GO:0008144	drug binding	IDA	molecular function
GO:0008217	regulation of blood pressure	ISS	biological process
GO:0008217	regulation of blood pressure	ISS	biological process
GO:0008237	metallopeptidase activity	ISS	molecular function
GO:0008237	metallopeptidase activity	IDA	molecular function
GO:0008237	metallopeptidase activity	IDA	molecular function
GO:0008237	metallopeptidase activity	IDA	molecular function
GO:0008237	metallopeptidase activity	IDA	molecular function
GO:0008238	exopeptidase activity	IDA	molecular function
GO:0008240	tripeptidyl-peptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	ISS	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008241	peptidyl-dipeptidase activity	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0014910	regulation of smooth muscle cell migration	ISS	biological process
GO:0019229	regulation of vasoconstriction	IC	biological process
GO:0031404	chloride ion binding	IDA	molecular function
GO:0031434	mitogen-activated protein kinase kinase binding	IPI	molecular function
GO:0031711	bradykinin receptor binding	IPI	molecular function
GO:0032943	mononuclear cell proliferation	IC	biological process
GO:0042312	regulation of vasodilation	IC	biological process
GO:0042447	hormone catabolic process	ISS	biological process
GO:0042447	hormone catabolic process	IDA	biological process
GO:0043171	peptide catabolic process	IDA	biological process
GO:0043171	peptide catabolic process	IDA	biological process
GO:0050435	beta-amyloid metabolic process	IDA	biological process
GO:0050435	beta-amyloid metabolic process	IDA	biological process
GO:0050482	arachidonic acid secretion	IDA	biological process
GO:0051019	mitogen-activated protein kinase binding	IPI	molecular function
GO:0060047	heart contraction	ISS	biological process
GO:0060177	regulation of angiotensin metabolic process	IDA	biological process
GO:0060218	hematopoietic stem cell differentiation	IC	biological process
GO:0061098	positive regulation of protein tyrosine kinase activity	ISS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070573	metallodipeptidase activity	EXP	molecular function
GO:0070573	metallodipeptidase activity	EXP	molecular function
GO:0070573	metallodipeptidase activity	EXP	molecular function
GO:0070573	metallodipeptidase activity	EXP	molecular function
GO:0071838	cell proliferation in bone marrow	ISS	biological process
GO:1900086	positive regulation of peptidyl-tyrosine autophosphorylation	ISS	biological process
GO:1902033	regulation of hematopoietic stem cell proliferation	ISS	biological process
GO:1902033	regulation of hematopoietic stem cell proliferation	IC	biological process
GO:1903597	negative regulation of gap junction assembly	ISS	biological process
GO:2000170	positive regulation of peptidyl-cysteine S-nitrosylation	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04924	Renin secretion
hsa04614	Renin-angiotensin system
hsa05410	Hypertrophic cardiomyopathy
hsa05142	Chagas disease

Diseases

Associated diseases	References
Cancer (melanoma)	GAD: 16136034
Cancer (prostate)	GAD: 15023541
Cancer (Squamous cell)	GAD: 18674955
Cancer (stomach)	GAD: 17035401
Cancer	GAD: 14686931
Cancer (Adenocarcinoma)	GAD: 16435992
Cancer (bladder)	GAD: 20438364
Cancer (colorectal)	GAD: 19943553
Cancer (endometrial)	GAD: 15527901
Cancer (glaucoma)	GAD: 15914614
Cancer (leukemia)	GAD: 12781647
Cancer (lung)	GAD: 11361058
Cancer (lymphoma)	GAD: 15818445
Cancer (breast)	GAD: 14583500
Aneurysm	GAD: 18652767
Angina pectoris	GAD: 18927546
Aortic stiffness	GAD: 11288810
Aortic valve stenosis	GAD: 12600182
Apoplexy	GAD: 20161734
Arrhythmogenic right ventricular dysplasia	GAD: 19126662
Arterial disease	GAD: 15326089
Atherosclerosis	GAD: 11257269
Atherosclerosis	GAD: 16248996
Atrial fibrillation	GAD: 12687832
Cardiovascular disease	GAD: 12116890
Coronary heart disease	GAD: 19579917
Hypotension	GAD: 15806540
Brain ischemia	GAD: 18387982
Hypertension	GAD: 12116890
Carotid artery diseases	GAD: 8773433
Cerebral hemorrhage	GAD: 18754764
Cerebral infarction	GAD: 15901553
Cerebrovascular disease	GAD: 12871600
Hypertension	GAD: 12695419
Intracranial aneurysm	GAD: 16121979
Microvascular angina	GAD: 15686789
Restenosis	GAD: 12082592
Peripheral vascular disease	GAD: 12419932
Thromboembolism	GAD: 10937809
Thrombosis	GAD: 15831156
Vascular disease	GAD: 11568114
Vasospastic angina	GAD: 9377825
Venous thrombosis	GAD: 14691571
Ventricular hypertrophy	GAD: 10657713
Congenital abnormalities	GAD: 15470205
Hyperhomocysteinemia	GAD: 17275478
Gaucher disease	GAD: 12359135
Bronchopulmonary dysplasia	GAD: 20818980
Cystic fibrosis	GAD: 14670805
Polycystic kidney disease	GAD: 10983692
Hyperandrogenism	INFBASE: 19602270
Hyperandrogenism	GAD: 19602270
Familial adenomatous polyposis	GAD: 14724163
Chronic ulcerative colitis	GAD: 11569699
Diabetic nephropathy	GAD: 10923445
Exfoliation syndrome	GAD: 18025834
Macular degeneration	GAD: 12099691
Albuminuria	GAD: 11200871
Sarcoidosis	GAD: 18496980
Polycythemia	GAD: 18339134
Hemolytic uremic syndrome	GAD: 19110485
Allergy	GAD: 15112973
Ankylosing spondylitis	GAD: 17083073
Arthritis	GAD: 11981324
Asthma	GAD: 15115168
Atopy	GAD: 11030378
Behcet's disease	GAD: 14672905
Inflammatory bowel disease	GAD: 11771311
Ulcerative colitis	GAD: 18049167
Multiple sclerosis	GAD: 17083336
Periodontitis	GAD: 11210078
Psoriasis	GAD: 17263818
Scleroderma	GAD: 16614523
Systemic lupus erythematosus (SLE)	GAD: 10099886
Systemic lupus erythematosus (SLE)	GAD: 14705222
Hypercholesterolemia	GAD: 20413122
Diabetes	GAD: 15300633
Metabolic syndrome	GAD: 12032106
Obesity	GAD: 17016614
Hyperlipidemia	GAD: 12123487
Glycogen storage disease	GAD: 20308911
Dyslipidemias	GAD: 16130596
Osteoarthritis	GAD: 18565253
Marfan syndrome	GAD: 17379330
Rheumatic diseases	GAD: 14765837
Migraine disorder	GAD: 18366776
Cerebral atherosclerosis	GAD: 8704045
Stroke	GAD: 12122980
Myasthenia gravis	GAD: 14981744
Alzheimer's disease	GAD: 14759632
Parkinson disease	GAD: 15279067
Affective disorder	GAD: 8931914
Mood disorders	GAD: 11145009
Cognitive function	GAD: 12113906
Dementia	GAD: 16603315
Depression	GAD: 17499413
Psychological disorders	GAD: 12203048
Schizophrenia	GAD: 9588764
Bipolar disorder	GAD: 14729237
Chronic glomerulonephritis	GAD: 11865575
Chronic kidney failure	GAD: 17969487
Chronic renal failure	GAD: 21085059
Kidney diseases	GAD: 12697976
Abortion	GAD: 20134171
Oligoasthenozoospermia	GAD: 11732226
Azoospermia	GAD: 11732226
Azoospermia	GAD: 11732226
Preeclampsia	GAD: 12575194
Recurrent pregnancy loss (RPL)	GAD: 14585904
Recurrent pregnancy loss (RPL)	GAD: 19821806
Premature ovarian insufficiency (POI)	INFBASE: 23615648
Leiomyoma	INFBASE: 17186537
Recurrent pregnancy loss (RPL)	INFBASE: 20450391
Polycystic ovary syndrome (PCOS)	INFBASE: 22791704
Spontaneous abortion	INFBASE: 19636212
Asthenozoospermia	MIK: 22425118
Asthenoteratozoospermia	MIK: 22425118
Oligoasthenoteratozoospermia	MIK: 22425118
Spermatogenesis defects	MIK: 1659252
Male factor infertility	MIK: 11732226
Male factor infertility	MIK: 11870238
Sertoli cell only syndrome (SCOS)	MIK: 6321247
Varicocele	MIK: 16728350
Oligozoospermia	MIK: 6321247
Chorioamnionitis	GAD: 20452482
Disorders of spermatogenesis	MIK: 11732226
Female infertility	INFBASE: 11732226
Endometriosis	GAD: 20685027
Female infertility	INFBASE: 24571615
Erectile dysfunction	GAD: 12825146
Lung disease	GAD: 18702808
Pulmonary embolism	GAD: 11802972
Chronic obstructive pulmonary disease (COPD)	GAD: 15498534
Wegener granulomatosis	GAD: 11715070
Rhinitis	GAD: 16926975
Systemic sclerosis	GAD: 12015245
Vitiligo	GAD: 21085187
Connective tissue diseases	GAD: 19332265
Chronic periodontitis	GAD: 19236533
Acidosis	GAD: 17123697
Anemia	GAD: 12713075
Angioedema	GAD: 18680700
Anoxia	GAD: 12153971
Ischemia	GAD: 12360613
Oteosclerosis	GAD: 18491423
Respiratory distress syndrome	GAD: 20515555
Respiratory distress syndrome	GAD: 18787808
Polydipsia	GAD: 15978554
Renal tubular dysgenesis	KEGG: H00575
Cachexia	GAD: 19258445
Calcinosis	GAD: 15536282
Hypertrophy	GAD: 19404196
Emphysema	GAD: 18229571
Endothelial dysfunction	GAD: 10334805
Renal disease	GAD: 11422735
Nephropathy	GAD: 15532370
Glomerulosclerosis	GAD: 19076285
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Asthenozoospermia	MIK: 22425118
Asthenoteratozoospermia	MIK: 22425118
Oligoasthenoteratozoospermia	MIK: 22425118
Azoospermia	MIK: 6321247
Oligozoospermia	MIK: 6321247
Sertoli cell-only syndrome	MIK: 6321247
Spermatogenic defects	MIK: 11732226
Male infertility	MIK: 11870238
Recurrent pregnancy loss	MIK: 22047507
Spermatogenic defects	MIK: 31037746
Varicocele related infertility	MIK: 16728350

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22425118	Asthenozoospermia, Asthenoteratozoospermia and Oligoasthenoteratozoospermia			405	Male infertility
11870238	Male infertility	T10527C, A10578G, C23152A, G23202A, C10514T	Singapo re Chin ese	174 (90 Singapore Chinese men with infertility and 84 fertile controls)	Male infertility
11732226	Disorders of spermatogenesis	I/D polymorphisms ACE		134 (46 patients (9 azoospermia, 21 severe oligoasthenospermia, 16 moderate oligoasthenospermia), 88 healthy men)	Male infertility	TNF-beta
6321247	Male infertility				Male infertility
22047507	Recurrent pregnancy loss	FVL, factor V H1299R, factor II prothrombin G20210A, FXIII V34L, ?-fibrinogen -455G>A, plasminogen activator inhibitor-1 (PAI-1), GPIIIa L33P (HPA-1 a/b L33P), methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, ACE I/D, Apo B R3500Q, and Apo	Turkish	976 (870 individuals with RPL (543 Turkish women with RPL, 327 of their male partners), 106 fertile couples (control))	Male infertility, Female infertility	VL-FVR2 ApoE2 PAI-1  MTHFR C677T-A1298C ACE
15120973	Male infertility			8 testis biopsies	Male infertility	Vim Rad23A Rad23B Gsr Gstp 1 Mgst1 Ace Casp1 Ctsd Prlr Tmsb4 and Zfp-37 Hsp 1 Osp94
16728350	Varicocele related infertility			42 (31 infertile patients who underwent variococelectomy, 11 fertile control subjects underwent left inguinal herniorraphy)	Male infertility	ACE
1659252	Spermatogenesis				Male infertility	ACE
8025157	Associated with spermiogenesis				Male infertility
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R