Aliases for ECE2 Gene

Aliases for ECE2 Gene

  • Endothelin Converting Enzyme 2 2 3 5
  • Endothelin-Converting Enzyme 2 3 4
  • KIAA0604 2 4
  • EEF1AKMT4-ECE2 Readthrough Transcript Protein 3
  • EEF1A Lysine Methyltransferase 4 3
  • EEF1AKMT4-ECE2 3
  • EC 3.4.24.71 4
  • EEF1AKMT4 3
  • MGC2408 2
  • ECE-2 4
  • ECE2 5

External Ids for ECE2 Gene

Previous GeneCards Identifiers for ECE2 Gene

  • GC03M180604
  • GC03P184962
  • GC03P185370
  • GC03P185289
  • GC03P185290
  • GC03P185451
  • GC03P183967
  • GC03P181374
  • GC03P184249

Summaries for ECE2 Gene

GeneCards Summary for ECE2 Gene

ECE2 (Endothelin Converting Enzyme 2) is a Protein Coding gene. Diseases associated with ECE2 include Autoimmune Polyendocrine Syndrome Type 1 and Alzheimer Disease 6. Among its related pathways are A-beta Pathways: Uptake and Degradation and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include methyltransferase activity and metalloendopeptidase activity. An important paralog of this gene is EEF1AKMT4-ECE2.

UniProtKB/Swiss-Prot Summary for ECE2 Gene

  • 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).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ECE2 Gene

Genomics for ECE2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ECE2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J184275 Promoter 0.7 EPDnew Ensembl 256.8 +0.1 89 0.6 ECE2 ABCF3 HSALNG0031223 PSMD2 EEF1AKMT4-ECE2
GH03J184276 Promoter 0.4 EPDnew 250.7 +0.9 933 0.1 NFE2 ECE2 HSALNG0031223 PSMD2 EEF1AKMT4-ECE2
GH03J184290 Promoter 0.3 EPDnew 250.4 +15.0 14989 0.1 HSALNG0031224 ECE2 RF00017-3776 PSMD2 EEF1AKMT4-ECE2
GH03J184292 Promoter 0.3 EPDnew 250.4 +16.5 16500 0.1 ECE2 HSALNG0031224 RF00017-3776 PSMD2 EEF1AKMT4-ECE2
GH03J184171 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 -100.8 -100849 8 SP1 NCOR1 MYC IKZF1 SIX5 JUND POLR2A BRCA1 ZIC2 YY1 AP2M1 VWA5B2 ABCF3 EIF2B5 DVL3 ALG3 ECE2 MIR1224 CAMK2N2 HSALNG0031211-002
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ECE2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ECE2

Top Transcription factor binding sites by QIAGEN in the ECE2 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GR
  • GR-alpha
  • Pax-5
  • STAT3

Genomic Locations for ECE2 Gene

Latest Assembly
chr3:184,276,011-184,293,031
(GRCh38/hg38)
Size:
17,021 bases
Orientation:
Plus strand

Previous Assembly
chr3:183,993,810-184,010,819
(GRCh37/hg19 by Entrez Gene)
Size:
17,010 bases
Orientation:
Plus strand

chr3:183,967,438-184,010,819
(GRCh37/hg19 by Ensembl)
Size:
43,382 bases
Orientation:
Plus strand

Genomic View for ECE2 Gene

Genes around ECE2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ECE2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ECE2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ECE2 Gene

Proteins for ECE2 Gene

  • Protein details for ECE2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DPD6-ECE2_HUMAN
    Recommended name:
    Endothelin-converting enzyme 2
    Protein Accession:
    P0DPD6
    Secondary Accessions:
    • A5PLK8
    • O60344
    • Q6NTG7
    • Q6UW36
    • Q8NFD7
    • Q96NX3
    • Q96NX4
    • Q9BRZ8

    Protein attributes for ECE2 Gene

    Size:
    811 amino acids
    Molecular mass:
    91211 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA25530.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ECE2 Gene

neXtProt entry for ECE2 Gene

Post-translational modifications for ECE2 Gene

  • Glycosylation at Asn207, Asn211, Asn252, Asn312, Asn357, Asn424, Asn580, Asn673, and Asn681
  • Modification sites at PhosphoSitePlus

Other Protein References for ECE2 Gene

No data available for DME Specific Peptides for ECE2 Gene

Domains & Families for ECE2 Gene

Gene Families for ECE2 Gene

Suggested Antigen Peptide Sequences for ECE2 Gene

GenScript: Design optimal peptide antigens:
  • Endothelin-converting enzyme 2 (ECE2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P0DPD6

UniProtKB/Swiss-Prot:

ECE2_HUMAN :
  • Belongs to the peptidase M13 family.
Family:
  • Belongs to the peptidase M13 family.
genes like me logo Genes that share domains with ECE2: view

Function for ECE2 Gene

Molecular function for ECE2 Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of the 21-Trp-|-Val-22 bond in big endothelin to form endothelin 1.; EC=3.4.24.71; Evidence={ECO:0000269|PubMed:12560336};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.4 uM for big ET-1 {ECO:0000269|PubMed:12560336}; KM=1.4 uM for peptide E {ECO:0000269|PubMed:12560336}; KM=27.4 uM for bradykinin {ECO:0000269|PubMed:12560336}; KM=48.4 uM for dynorphin B {ECO:0000269|PubMed:12560336}; pH dependence: Optimum pH is 5.0-5.5. Inactive at neutral pH. {ECO:0000269|PubMed:12560336};

Enzyme Numbers (IUBMB) for ECE2 Gene

Phenotypes From GWAS Catalog for ECE2 Gene

Gene Ontology (GO) - Molecular Function for ECE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004222 metalloendopeptidase activity IEA,TAS --
GO:0005515 protein binding IPI --
GO:0008168 methyltransferase activity IEA --
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with ECE2: view
genes like me logo Genes that share phenotypes with ECE2: view

Animal Models for ECE2 Gene

MGI Knock Outs for ECE2:

Animal Models for research

  • Taconic Biosciences Mouse Models for ECE2

miRNA for ECE2 Gene

miRTarBase miRNAs that target ECE2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ECE2

Clone products for research

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ECE2 Gene

Localization for ECE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ECE2 Gene

Golgi apparatus membrane. Single-pass type II membrane protein. Cytoplasmic vesicle, secretory vesicle membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ECE2 gene
Compartment Confidence
golgi apparatus 4
plasma membrane 3
nucleus 3
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ECE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane ISS --
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ECE2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ECE2 Gene

Pathways & Interactions for ECE2 Gene

genes like me logo Genes that share pathways with ECE2: view

Pathways by source for ECE2 Gene

1 Qiagen pathway for ECE2 Gene
  • Endothelin-1 Signaling Pathway

Interacting Proteins for ECE2 Gene

Gene Ontology (GO) - Biological Process for ECE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0007267 cell-cell signaling TAS 11718899
GO:0008152 metabolic process IEA --
GO:0016485 protein processing IBA 21873635
GO:0016486 peptide hormone processing IDA 11718899
genes like me logo Genes that share ontologies with ECE2: view

No data available for SIGNOR curated interactions for ECE2 Gene

Drugs & Compounds for ECE2 Gene

(3) Drugs for ECE2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ECE2: view

Transcripts for ECE2 Gene

mRNA/cDNA for ECE2 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ECE2

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for ECE2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a ·
SP1: - - -
SP2: - -
SP3: - - - - - - - - -
SP4: - - - -
SP5: - -
SP6: -
SP7:
SP8:
SP9:

ExUns: 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for ECE2 Gene

GeneLoc Exon Structure for
ECE2

Expression for ECE2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ECE2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ECE2 Gene

This gene is overexpressed in Brain - Hypothalamus (x7.5), Brain - Cerebellum (x5.4), Brain - Nucleus accumbens (basal ganglia) (x4.9), and Brain - Cerebellar Hemisphere (x4.8).

Protein differential expression in normal tissues from HIPED for ECE2 Gene

This gene is overexpressed in Liver (47.4), Ovary (11.9), and Prostate (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ECE2 Gene



Protein tissue co-expression partners for ECE2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ECE2

SOURCE GeneReport for Unigene cluster for ECE2 Gene:

Hs.146161

Evidence on tissue expression from TISSUES for ECE2 Gene

  • Nervous system(4.7)
  • Lung(4.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with ECE2: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ECE2 Gene

Orthologs for ECE2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ECE2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ECE2 29 30
  • 99.58 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 97 (a)
OneToMany
-- 30
  • 74 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia ECE2 29 30
  • 90.3 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ECE2 29 30
  • 89.73 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ece2 29 16 30
  • 88.46 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ece2 29
  • 87.36 (n)
Oppossum
(Monodelphis domestica)
Mammalia ECE2 30
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ECE2 29 30
  • 78.32 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ECE2 30
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ece2 29
  • 69.07 (n)
Zebrafish
(Danio rerio)
Actinopterygii ECE2 30
  • 72 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009791 29
  • 53.08 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Nep1 29 31
  • 53.06 (n)
CG6265 31
  • 46 (a)
Nep3 30 31
  • 42 (a)
OneToMany
Nep4 31
  • 38 (a)
Nep2 31
  • 35 (a)
CG8358 31
  • 32 (a)
BcDNA:GH07188 31
  • 28 (a)
CG14527 31
  • 27 (a)
CG5527 31
  • 26 (a)
CG14528 31
  • 25 (a)
CG14523 31
  • 24 (a)
CG14529 31
  • 23 (a)
CG4721 31
  • 22 (a)
CG4725 31
  • 22 (a)
Worm
(Caenorhabditis elegans)
Secernentea nep-11 29
  • 48.46 (n)
T05A8.4 31
  • 34 (a)
T16A9.4 31
  • 31 (a)
F26G1.6 31
  • 30 (a)
F54F11.2 31
  • 28 (a)
C49D10.10 31
  • 25 (a)
F39E9.4 31
  • 24 (a)
F18A12.1 31
  • 23 (a)
T25B6.2 31
  • 23 (a)
Y116A8C.4 31
  • 23 (a)
K02F6.9 31
  • 21 (a)
nep-19 30
  • 19 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 40 (a)
OneToMany
Species where no ortholog for ECE2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ECE2 Gene

ENSEMBL:
Gene Tree for ECE2 (if available)
TreeFam:
Gene Tree for ECE2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ECE2: view image
Alliance of Genome Resources:
Additional Orthologs for ECE2

Paralogs for ECE2 Gene

Paralogs for ECE2 Gene

(6) SIMAP similar genes for ECE2 Gene using alignment to 3 proteins:

  • ECE2_HUMAN
  • F8WCL9_HUMAN
  • H0Y5G8_HUMAN
genes like me logo Genes that share paralogs with ECE2: view

Variants for ECE2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ECE2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs150617960 Benign: not provided 184,285,529(+) C/T
NM_001100121.2(ECE2):c.1200C>T (p.Ser400=)
SYNONYMOUS
rs35875049 Benign: not provided 184,287,931(+) G/Ap.Arg499Gln
NM_001100121.2(ECE2):c.1358G>A (p.Arg453Gln)
MISSENSE
rs74351089 Benign: not provided 184,257,656(+) T/C
NM_032331.4(EEF1AKMT4):c.380T>C (p.Val127Ala)
MISSENSE
rs76939864 Benign: not provided 184,278,307(+) T/C
NM_001100121.2(ECE2):c.744T>C (p.Val248=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ECE2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ECE2 Gene

Variant ID Type Subtype PubMed ID
dgv961e214 CNV gain 21293372
esv3349613 CNV duplication 20981092
nsv1074644 CNV deletion 25765185
nsv4146 CNV insertion 18451855
nsv528639 CNV loss 19592680
nsv592666 CNV loss 21841781
nsv829812 CNV loss 17160897
nsv829813 CNV loss 17160897

Variation tolerance for ECE2 Gene

Residual Variation Intolerance Score: 21.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.30; 62.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ECE2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ECE2
Leiden Open Variation Database (LOVD)
ECE2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ECE2 Gene

Disorders for ECE2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ECE2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
autoimmune polyendocrine syndrome type 1
  • autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
alzheimer disease 6
  • ad6
autoimmune polyendocrine syndrome
  • autoimmune polyendocrinopathy
- elite association - COSMIC cancer census association via MalaCards
Search ECE2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ECE2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ECE2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ECE2 Gene

Publications for ECE2 Gene

  1. Human endothelin converting enzyme-2 (ECE2): characterization of mRNA species and chromosomal localization. (PMID: 11718899) Lorenzo MN … Marsden PA (Biochimica et biophysica acta 2001) 2 3 4 22
  2. Polymorphism in endothelin-related genes limits exercise-induced decreases in arterial stiffness in older subjects. (PMID: 16567585) Iemitsu M … Matsuda M (Hypertension (Dallas, Tex. : 1979) 2006) 3 22 40
  3. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PMID: 21102462) Elks CE … Murray A (Nature genetics 2010) 3 40
  4. An intact SAM-dependent methyltransferase fold is encoded by the human endothelin-converting enzyme-2 gene. (PMID: 19089949) Tempel W … Bochkarev A (Proteins 2009) 3 22
  5. Endothelin-converting enzyme-2 is increased in Alzheimer's disease and up-regulated by Abeta. (PMID: 19541930) Palmer JC … Love S (The American journal of pathology 2009) 3 22

Products for ECE2 Gene

Sources for ECE2 Gene