ECE2 (endothelin converting enzyme 2)

2010-08-01  

Identity

HGNC
LOCATION
3q27.1
LOCUSID
ALIAS
EEF1AKMT4
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
195419302009Endothelin-converting enzyme-2 is increased in Alzheimer's disease and up-regulated by Abeta.36
171886792007Alterations in immunological and neurological gene expression patterns in Alzheimer's disease tissues.35
175450922007[Association of CD133 and endothelin-converting enzyme expressions with prognosis of non-small cell lung carcinoma].8
165675852006Polymorphism in endothelin-related genes limits exercise-induced decreases in arterial stiffness in older subjects.5
190899492009An intact SAM-dependent methyltransferase fold is encoded by the human endothelin-converting enzyme-2 gene.5
220270132012Genetic analysis of genes involved in amyloid-β degradation and clearance in Alzheimer's disease.5
196260402009Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis.3
208077712010Identification of an endothelin-converting enzyme-2-specific fluorigenic substrate and development of an in vitro and ex vivo enzymatic assay.3
281717052017Endothelin-converting enzymes degrade α-synuclein and are reduced in dementia with Lewy bodies.1
285576282017Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1.0

Citation

Dessen P

ECE2 (endothelin converting enzyme 2)

Atlas Genet Cytogenet Oncol Haematol. 2010-08-01

Online version: http://atlasgeneticsoncology.org/gene/51625/ece2