Identity
HGNC
LOCATION
19q13.12
LOCUSID
ALIAS
AMC1,AMCNMY,LGIL3
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: 163175
MIM: 608303
HGNC: 18712
Ensembl: ENSG00000153902
Variants:
dbSNP: 163175
ClinVar: 163175
TCGA: ENSG00000153902
COSMIC: LGI4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000153902 | ENST00000310123 | Q8N135 |
| ENSG00000153902 | ENST00000392225 | A8MVC2 |
| ENSG00000153902 | ENST00000587780 | K7ENQ0 |
| ENSG00000153902 | ENST00000591633 | Q8N135 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Developmental Biology | REACTOME | R-HSA-1266738 |
| LGI-ADAM interactions | REACTOME | R-HSA-5682910 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34288120 | 2021 | Characterizing the molecular etiology of arthrogryposis multiplex congenita in patients with LGI4 mutations. | 0 |
| 34288120 | 2021 | Characterizing the molecular etiology of arthrogryposis multiplex congenita in patients with LGI4 mutations. | 0 |
| 28318499 | 2017 | Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita. | 11 |
| 28318499 | 2017 | Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita. | 11 |
| 24662834 | 2015 | Intratumoral heterogeneity of ADAM23 promotes tumor growth and metastasis through LGI4 and nitric oxide signals. | 11 |
| 24662834 | 2015 | Intratumoral heterogeneity of ADAM23 promotes tumor growth and metastasis through LGI4 and nitric oxide signals. | 11 |
| 19815358 | 2010 | Positive association between benign familial infantile convulsions and LGI4. | 2 |
| 19815358 | 2010 | Positive association between benign familial infantile convulsions and LGI4. | 2 |
| 20220021 | 2010 | Adam22 is a major neuronal receptor for Lgi4-mediated Schwann cell signaling. | 43 |
| 19815358 | 2010 | Positive association between benign familial infantile convulsions and LGI4. | 2 |
| 19815358 | 2010 | Positive association between benign familial infantile convulsions and LGI4. | 2 |
| 20220021 | 2010 | Adam22 is a major neuronal receptor for Lgi4-mediated Schwann cell signaling. | 43 |
| 14505228 | 2004 | Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy. | 7 |
| 14505228 | 2004 | Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy. | 7 |
| 14505228 | 2004 | Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy. | 7 |
Citation
Dessen P
LGI4 (leucine rich repeat LGI family member 4)
Atlas Genet Cytogenet Oncol Haematol. 2015-06-01
Online version: http://atlasgeneticsoncology.org/gene/55267/lgi4-(leucine-rich-repeat-lgi-family-member-4)
