Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:MDA5
gptkb:RH116 Helicard |
| gptkbp:associatedWith |
gptkb:Singleton-Merten_syndrome
type 1 diabetes Aicardi-Goutieres syndrome |
| gptkbp:discoveredBy |
Kang et al.
|
| gptkbp:discoveredIn |
2002
|
| gptkbp:encodes |
gptkb:MDA5_protein
|
| gptkbp:Entrez_Gene_ID |
64135
ENSG00000115267 |
| gptkbp:expressedIn |
immune cells
|
| gptkbp:fullName |
interferon induced with helicase C domain 1
|
| gptkbp:function |
innate immune response to viral infection
recognition of viral double-stranded RNA |
| gptkbp:HGNC_ID |
HGNC:18873
|
| https://www.w3.org/2000/01/rdf-schema#label |
IFIH1 gene
|
| gptkbp:locatedOnChromosome |
gptkb:2q24.2
chromosome 2 |
| gptkbp:mutationAssociatedWith |
autoimmunity
viral susceptibility |
| gptkbp:OMIM |
606951
|
| gptkbp:orthologInMouse |
gptkb:Ifih1
|
| gptkbp:proteinFamily |
gptkb:RIG-I-like_receptor_family
|
| gptkbp:regulates |
type I interferon production
|
| gptkbp:UniProtID |
gptkb:Q9BYX4
|
| gptkbp:bfsParent |
gptkb:MDA5_protein
|
| gptkbp:bfsLayer |
7
|