ELFN1 (extracellular leucine rich repeat and fibronectin type III domain containing 1)
2014-11-01 Affiliation
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: 392617
MIM: 614964
HGNC: 33154
Ensembl: ENSG00000225968
Variants:
dbSNP: 392617
ClinVar: 392617
TCGA: ENSG00000225968
COSMIC: ELFN1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000225968 | ENST00000424383 | P0C7U0 |
| ENSG00000225968 | ENST00000561626 | P0C7U0 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34509675 | 2021 | Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity. | 2 |
| 34509675 | 2021 | Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity. | 2 |
| 29686062 | 2018 | Synaptic adhesion protein ELFN1 is a selective allosteric modulator of group III metabotropic glutamate receptors in trans. | 35 |
| 29686062 | 2018 | Synaptic adhesion protein ELFN1 is a selective allosteric modulator of group III metabotropic glutamate receptors in trans. | 35 |
| 25047565 | 2014 | Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures. | 61 |
| 25047565 | 2014 | Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures. | 61 |
Citation
Dessen P
ELFN1 (extracellular leucine rich repeat and fibronectin type III domain containing 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62791/elfn1-(extracellular-leucine-rich-repeat-and-fibronectin-type-iii-domain-containing-1)
