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ECE2 endothelin converting enzyme 2 [ Homo sapiens (human) ]

Gene ID: 9718, updated on 8-May-2016
Official Symbol
ECE2provided by HGNC
Official Full Name
endothelin converting enzyme 2provided by HGNC
Primary source
HGNC:HGNC:13275
See related
Ensembl:ENSG00000145194 HPRD:09931; MIM:610145; Vega:OTTHUMG00000150551
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes a member of the M13 family, which includes type 2 integral membrane metallopeptidases. The encoded enzyme is a membrane-bound zinc-dependent metalloprotease. The enzyme catalyzes the cleavage of big endothelin to produce the vasoconstrictor endothelin-1, and plays a role in the processing of several neuroendocrine peptides. It may also have methyltransferase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Orthologs
Location:
3q27.1
Exon count:
22
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (184249657..184293031)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (183967445..184010819)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene von Willebrand factor A domain containing 5B2 Neighboring gene microRNA 1224 Neighboring gene ALG3, alpha-1,3- mannosyltransferase Neighboring gene calcium/calmodulin dependent protein kinase II inhibitor 2 Neighboring gene proteasome 26S subunit, non-ATPase 2 Neighboring gene eukaryotic translation initiation factor 4 gamma 1 Neighboring gene small nucleolar RNA, C/D box 66

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A mega-analysis of genome-wide association studies for major depressive disorder.
NHGRI GWA Catalog
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC2408, KIAA0604, MGC17664, MGC78487

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
metalloendopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
brain development ISS
Inferred from Sequence or Structural Similarity
more info
 
cardioblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
methylation IEA
Inferred from Electronic Annotation
more info
 
peptide hormone processing IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
endothelin-converting enzyme 2
NP_001032401.1
NP_001093590.1
NP_001093591.1
NP_055508.3
NP_115707.2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001037324.2NP_001032401.1  endothelin-converting enzyme 2 isoform B

    See identical proteins and their annotated locations for NP_001032401.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and CDS compared to variant 1. The resulting isoform (B) has a distinct N-terminus compared to isoform A.
    Source sequence(s)
    AF428263, AY359003, BC142950
    Consensus CDS
    CCDS33899.1
    UniProtKB/Swiss-Prot
    O60344
    Related
    ENSP00000352052, OTTHUMP00000197818, ENST00000359140, OTTHUMT00000318877
    Conserved Domains (2) summary
    cd08662
    Location:85734
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    COG3590
    Location:74727
    PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
  2. NM_001100120.1NP_001093590.1  endothelin-converting enzyme 2 isoform D

    See identical proteins and their annotated locations for NP_001093590.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and CDS compared to variant 1. The resulting isoform (D) has a distinct N-terminus compared to isoform A.
    Source sequence(s)
    AF428263, AF521189, AY359003, BC142950
    Consensus CDS
    CCDS43179.1
    UniProtKB/Swiss-Prot
    O60344
    Related
    ENSP00000350066, OTTHUMP00000210688, ENST00000357474, OTTHUMT00000345998
    Conserved Domains (2) summary
    cd08662
    Location:160809
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    COG3590
    Location:149802
    PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
  3. NM_001100121.1NP_001093591.1  endothelin-converting enzyme 2 isoform E

    See identical proteins and their annotated locations for NP_001093591.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and CDS compared to variant 1. The resulting isoform (E) has a distinct N-terminus compared to isoform A.
    Source sequence(s)
    AF192531, AF428263, AY359003, BC142950
    Consensus CDS
    CCDS46969.1
    UniProtKB/Swiss-Prot
    O60344
    Related
    ENSP00000385846, OTTHUMP00000197817, ENST00000404464, OTTHUMT00000318876
    Conserved Domains (2) summary
    cd08662
    Location:114763
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    COG3590
    Location:103756
    PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
  4. NM_014693.3NP_055508.3  endothelin-converting enzyme 2 isoform A

    See identical proteins and their annotated locations for NP_055508.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (A).
    Source sequence(s)
    AF428263, AY359003, BC142950, BU568980
    Consensus CDS
    CCDS3256.2
    UniProtKB/Swiss-Prot
    O60344
    Related
    ENSP00000384223, OTTHUMP00000197815, ENST00000402825, OTTHUMT00000318874
    Conserved Domains (3) summary
    cd02440
    Location:61137
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    cd08662
    Location:232881
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    COG3590
    Location:221874
    PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
  5. NM_032331.3NP_115707.2  endothelin-converting enzyme 2 isoform C

    See identical proteins and their annotated locations for NP_115707.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and CDS compared to variant 1. The resulting isoform (C) has a distinct C-terminus compared to isoform A. Isoform C lacks the zinc-binding site and peptidase domain of canonical endothelin-converting enzymes and likely functions as a methyltransferase protein.
    Source sequence(s)
    BC005835, BC069005, BU568980
    Consensus CDS
    CCDS3255.1
    UniProtKB/Swiss-Prot
    O60344
    Related
    ENSP00000314295, OTTHUMP00000197816, ENST00000324557, OTTHUMT00000318875
    Conserved Domains (2) summary
    cd02440
    Location:61172
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    pfam13847
    Location:56172
    Methyltransf_31; Methyltransferase domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

    Range
    184249657..184293031
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    183931867..183975288
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)