Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
CFAP410
LRRC76 PSEC0216 |
| gptkbp:associatedWith |
amyotrophic lateral sclerosis
retinitis pigmentosa |
| gptkbp:Entrez_Gene_ID |
28992
ENSG00000160299 |
| gptkbp:fullName |
chromosome 21 open reading frame 2
|
| gptkbp:function |
involved in DNA repair
involved in cilia function |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:13712
|
| https://www.w3.org/2000/01/rdf-schema#label |
C21orf2
|
| gptkbp:locatedOnChromosome |
chromosome 21
|
| gptkbp:mutationAssociatedWith |
linked to neurodegenerative diseases
|
| gptkbp:OMIM |
611529
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
C21orf2 (mouse)
|
| gptkbp:product |
C21orf2 protein
|
| gptkbp:UniProtID |
Q9Y3E5
|
| gptkbp:bfsParent |
gptkb:human_chromosome_21
|
| gptkbp:bfsLayer |
7
|