Identity
HGNC
LOCATION
2q37.1
LOCUSID
ALIAS
DA5D,DINE,ECEX,XCE
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9427
MIM: 605896
HGNC: 3147
Ensembl: ENSG00000171551
Variants:
dbSNP: 9427
ClinVar: 9427
TCGA: ENSG00000171551
COSMIC: ECEL1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000171551 | ENST00000304546 | O95672 |
| ENSG00000171551 | ENST00000409941 | O95672 |
| ENSG00000171551 | ENST00000411860 | H7C3M0 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38568023 | 2024 | ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant. | 0 |
| 38568023 | 2024 | ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant. | 0 |
| 33491998 | 2021 | Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene. | 3 |
| 33491998 | 2021 | Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene. | 3 |
| 29663639 | 2018 | A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases. | 5 |
| 29663639 | 2018 | A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases. | 5 |
| 25708584 | 2015 | ECEL1 mutation causes fetal arthrogryposis multiplex congenita. | 8 |
| 25708584 | 2015 | ECEL1 mutation causes fetal arthrogryposis multiplex congenita. | 8 |
| 23808592 | 2014 | Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes. | 12 |
| 23829171 | 2014 | Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. | 12 |
| 25173900 | 2014 | The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder. | 8 |
| 23808592 | 2014 | Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes. | 12 |
| 23829171 | 2014 | Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. | 12 |
| 25173900 | 2014 | The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder. | 8 |
| 23236030 | 2013 | The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. | 29 |
Citation
Dessen P
ECEL1 (endothelin converting enzyme like 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62711/ecel1-(endothelin-converting-enzyme-like-1)
