ECE2

endothelin converting enzyme 2, the group of M13 metallopeptidases

Basic information

Region (hg38): 3:184276011-184293031

Links

ENSG00000145194

∙ NCBI:9718 ∙ OMIM:610145 ∙ HGNC:13275 ∙ Uniprot:P0DPD6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

Alzheimer disease (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ECE2 gene.

not_specified (68 variants)
not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ECE2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001100121.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar	2 clinvar	4
missense			64 clinvar	4 clinvar	1 clinvar	69
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	64	6	3

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ECE2	protein_coding	protein_coding	ENST00000402825	19	43382

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.18e-21	0.111	125556	0	192	125748	0.000764

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.190	521	533	0.977	0.0000314	5764
Missense in Polyphen		258	272	0.94853		3014
Synonymous	-0.404	226	218	1.03	0.0000126	1738
Loss of Function	1.50	39	50.5	0.772	0.00000260	519

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00181	0.00180
Ashkenazi Jewish	0.000895	0.000893
East Asian	0.00126	0.00125
Finnish	0.000185	0.000185
European (Non-Finnish)	0.000909	0.000888
Middle Eastern	0.00126	0.00125
South Asian	0.000509	0.000490
Other	0.000817	0.000815

dbNSFP

Source: dbNSFP

Function: FUNCTION: Converts big endothelin-1 to endothelin-1. Also involved in the processing of various neuroendocrine peptides, including neurotensin, angiotensin I, substance P, proenkephalin-derived peptides, and prodynorphin-derived peptides. May play a role in amyloid-beta processing (By similarity). {ECO:0000250|UniProtKB:B2RQR8, ECO:0000269|PubMed:12560336}.;
Pathway: Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding (Consensus)

Recessive Scores

pRec: 0.0979

Intolerance Scores

loftool: 0.0767
rvis_EVS: -0.87
rvis_percentile_EVS: 10.59

Haploinsufficiency Scores

pHI: 0.152
hipred: N
hipred_score: 0.275
ghis: 0.593

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.263

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Ece2
Phenotype: skeleton phenotype; hearing/vestibular/ear phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; craniofacial phenotype; growth/size/body region phenotype;

Zebrafish Information Network

Gene name: ece2b
Affected structure: iridophore
Phenotype tag: abnormal
Phenotype quality: ridged

Gene ontology

Biological process: peptide hormone processing;methylation
Cellular component: Golgi membrane;integral component of membrane;transport vesicle membrane
Molecular function: metalloendopeptidase activity;methyltransferase activity;metal ion binding