ECE2 (endothelin converting enzyme 2)

2010-08-01  

Identity

HGNC
ECE2
LOCATION
3q27.1
LOCUSID
9718
ALIAS
EEF1AKMT4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9718
MIM: 610145
HGNC: 13275
Ensembl: ENSG00000145194

Variants:

dbSNP: 9718
ClinVar: 9718
TCGA: ENSG00000145194
COSMIC: ECE2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145194ENST00000357474P0DPD6
ENSG00000145194ENST00000359140P0DPD6
ENSG00000145194ENST00000404464P0DPD6
ENSG00000145194ENST00000422932F8WCL9
ENSG00000145194ENST00000430587H0Y5G8

Expression (GTEx)

0
10
20
30
40
50
60
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
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
Peptide ligand-binding receptorsREACTOMER-HSA-375276

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
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
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

References

Pubmed IDYearTitleCitations
321029832020Identification of Alzheimer's disease-associated rare coding variants in the ECE2 gene.14
321029832020Identification of Alzheimer's disease-associated rare coding variants in the ECE2 gene.14
281717052017Endothelin-converting enzymes degrade α-synuclein and are reduced in dementia with Lewy bodies.2
285576282017Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1.2
281717052017Endothelin-converting enzymes degrade α-synuclein and are reduced in dementia with Lewy bodies.2
285576282017Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1.2
220270132012Genetic analysis of genes involved in amyloid-β degradation and clearance in Alzheimer's disease.7
220270132012Genetic analysis of genes involved in amyloid-β degradation and clearance in Alzheimer's disease.7
208077712010Identification of an endothelin-converting enzyme-2-specific fluorigenic substrate and development of an in vitro and ex vivo enzymatic assay.4
208077712010Identification of an endothelin-converting enzyme-2-specific fluorigenic substrate and development of an in vitro and ex vivo enzymatic assay.4
190899492009An intact SAM-dependent methyltransferase fold is encoded by the human endothelin-converting enzyme-2 gene.7
195419302009Endothelin-converting enzyme-2 is increased in Alzheimer's disease and up-regulated by Abeta.56
196260402009Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis.3
190899492009An intact SAM-dependent methyltransferase fold is encoded by the human endothelin-converting enzyme-2 gene.7
195419302009Endothelin-converting enzyme-2 is increased in Alzheimer's disease and up-regulated by Abeta.56

Citation

Dessen P

ECE2 (endothelin converting enzyme 2)

Atlas Genet Cytogenet Oncol Haematol. 2010-08-01

Online version: http://atlasgeneticsoncology.org/gene/51625/js/web-card-_common.js