ENSG00000115020
Homo sapiens | |
Features
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR000306 | FYVE zinc finger | | IPR000591 | DEP domain | | IPR002423 | Chaperonin Cpn60/TCP-1 family | | IPR002498 | Phosphatidylinositol-4-phosphate 5-kinase, core | | IPR011011 | Zinc finger, FYVE/PHD-type | | IPR013083 | Zinc finger, RING/FYVE/PHD-type | | IPR017455 | Zinc finger, FYVE-related | | IPR027409 | GroEL-like apical domain superfamily | | IPR027410 | TCP-1-like chaperonin intermediate domain superfamily | | IPR027483 | Phosphatidylinositol-4-phosphate 5-kinase, C-terminal | | IPR027484 | Phosphatidylinositol-4-phosphate 5-kinase, N-terminal | | IPR036388 | Winged helix-like DNA-binding domain superfamily | | IPR036390 | Winged helix DNA-binding domain superfamily | | IPR037378 | PIKfyve, DEP domain |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
Show
| | HP:0000613 | Photophobia | "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators] |
Show
| | HP:0007962 | Speckled corneal dystrophy | |
Show
|
Interacting proteins (from Reactome)
| ENSG00000112367 | FIG4 / Q92562 / FIG4 phosphoinositide 5-phosphatase | / complex | | ENSG00000103043 | VAC14 / Q08AM6 / Vac14, PIKFYVE complex component | / complex |
0 s.
|
