ACE2 (angiotensin converting enzyme 2)

2003-05-01  

Identity

HGNC
ACE2
LOCATION
Xp22.2
LOCUSID
59272
ALIAS
ACEH
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 59272
MIM: 300335
HGNC: 13557
Ensembl: ENSG00000130234

Variants:

dbSNP: 59272
ClinVar: 59272
TCGA: ENSG00000130234
COSMIC: ACE2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130234ENST00000252519Q9BYF1
ENSG00000130234ENST00000427411Q9BYF1

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Renin-angiotensin systemKEGGko04614
Renin-angiotensin systemKEGGhsa04614
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
Metabolism of proteinsREACTOMER-HSA-392499
Peptide hormone metabolismREACTOMER-HSA-2980736
Metabolism of Angiotensinogen to AngiotensinsREACTOMER-HSA-2022377

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD17473847
PA448780captoprilChemicalClinicalAnnotationassociatedPD17473847

References

Pubmed IDYearTitleCitations
372863652024Structural basis for the mechanism of interaction of SARS-CoV-2 B.1.640.2 variant RBD with the host receptors hACE2 and GRP78.0
373265792024The relationship between the clinical course of SARS-CoV-2 infections and ACE2 and TMPRSS2 expression and polymorphisms.2
378842082024Integrin αvβ1 facilitates ACE2-mediated entry of SARS-CoV-2.0
382460352024Increased ACE2 and TMPRSS2 expression in ulcerative colitis.0
382631602024Genetic association of ACE2 and TMPRSS2 polymorphisms with COVID-19 severity; a single centre study from Egypt.0
382793532024Differential Ability of Spike Protein of SARS-CoV-2 Variants to Downregulate ACE2.0
382878222024ACE2 Regulates Glycolipid Metabolism in Multiple Tissues.1
383073962024Host genetics and the profile of COVID-19 in indigenous people from the Brazilian Amazon: A pilot study with variants of the ACE1, ACE2 and TMPRSS2 genes.0
383104772024Deciphering the free energy landscapes of SARS-CoV-2 wild type and Omicron variant interacting with human ACE2.0
383676772024Polymorphisms in the human angiotensin converting enzyme gene (ACE) linked to susceptibility of COVID-19 and malaria infections in the Ghanaian population.0
383757782024Transcriptional regulation of SARS-CoV-2 receptor ACE2 by SP1.1
384089242024Nasopharyngeal angiotensin converting enzyme 2 (ACE2) expression as a risk-factor for SARS-CoV-2 transmission in concurrent hospital associated outbreaks.0
384626622024Serum ACE2 and S19P gene polymorphism in Egyptian patients with COVID-19 infection: correlation with disease severity.0
384700582024ACE2 acts as a novel regulator of TMPRSS2-catalyzed proteolytic activation of influenza A virus in airway cells.1
384893332024Pathological changes in oral epithelium and the expression of SARS-CoV-2 entry receptors, ACE2 and furin.0

Citation

Dessen P

ACE2 (angiotensin converting enzyme 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/552/ace2-(angiotensin-converting-enzyme-2)