Gene Gene information from NCBI Gene database.
Entrez ID 79726
Gene name WD repeat domain 59
Gene symbol WDR59
Synonyms (NCBI Gene)
CDW12FP977p90-120
Chromosome 16
Chromosome location 16q23.1
miRNA miRNA information provided by mirtarbase database.
361
miRTarBase ID miRNA Experiments Reference
MIRT017154 hsa-miR-335-5p Microarray 18185580
MIRT050742 hsa-miR-17-3p CLASH 23622248
MIRT696153 hsa-miR-590-3p HITS-CLIP 23313552
MIRT696152 hsa-miR-6872-3p HITS-CLIP 23313552
MIRT696151 hsa-miR-4258 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25263562, 26972053, 28199315, 28514442, 33961781, 36931259
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane IDA 28199306
GO:0005765 Component Lysosomal membrane IEA
GO:0005765 Component Lysosomal membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617418 25706 ENSG00000103091
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6PJI9
Protein name GATOR2 complex protein WDR59 (WD repeat-containing protein 59)
Protein function As a component of the GATOR2 complex, functions as an activator of the amino acid-sensing branch of the mTORC1 signaling pathway (PubMed:23723238, PubMed:25457612, PubMed:27487210, PubMed:35831510, PubMed:36528027, PubMed:36577058). The GATOR2 c
PDB 7UHY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 95 134 WD domain, G-beta repeat Repeat
PF00400 WD40 182 220 WD domain, G-beta repeat Repeat
PF17120 Zn_ribbon_17 918 973 Domain
Sequence
MAARWSSENVVVEFRDSQATAMSVDCLGQHAVLSGRRFLYIVNLDAPFEGHRKISRQSKW
DIGAVQWNPHDSFAHYFAASSNQRVDLYKWKDGSGEVGTTLQGHTRVISDLDWAVFEPDL
LVTSSVDTYIYIWD
IKDTRKPTVALSAVAGASQVKWNKKNANCLATSHDGDVRIWDKRKP
STAVEYLAAHLSKIHGLDWHPDSEHILATSSQDNSVKFWDYRQPRKYLNILPCQVPVWKA
RYTPFSNGLVTVMVPQLRRENSLLLWNVFDLNTPVHTFVGHDDVVLEFQWRKQKEGSKDY
QLVTWSRDQTLRMWRVDSQMQRLCANDILDGVDEFIESISLLPEPEKTLHTEDTDHQHTA
SHGEEEALKEDPPRNLLEERKSDQLGLPQTLQQEFSLINVQIRNVNVEMDAADRSCTVSV
HCSNHRVKMLVKFPAQYPNNAAPSFQFINPTTITSTMKAKLLKILKDTALQKVKRGQSCL
EPCLRQLVSCLESFVNQEDSASSNPFALPNSVTPPLPTFARVTTAYGSYQDANIPFPRTS
GARFCGAGYLVYFTRPMTMHRAVSPTEPTPRSLSALSAYHTGLIAPMKIRTEAPGNLRLY
SGSPTRSEKEQVSISSFYYKERKSRRWKSKREGSDSGNRQIKAAGKVIIQDIACLLPVHK
SLGELYILNVNDIQETCQKNAASALLVGRKDLVQVWSLATVATDLCLGPKSDPDLETPWA
RHPFGRQLLESLLAHYCRLRDVQTLAMLCSVFEAQSRPQGLPNPFGPFPNRSSNLVVSHS
RYPSFTSSGSCSSMSDPGLNTGGWNIAGREAEHLSSPWGESSPEELRFGSLTYSDPRERE
RDQHDKNKRLLDPANTQQFDDFKKCYGEILYRWGLREKRAEVLKFVSCPPDPHKGIEFGV
YCSHCRSEVRGTQCAICKGFTFQCAICHVAVRGSSNFCLTCGHGGHTSHMMEWFRTQEVC
PTGCGCHCLLEST
F
Sequence length 974
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  mTOR signaling pathway   Amino acids regulate mTORC1
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LEPROSY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Epilepsies, Partial Epilepsy BEFREE 27173016
★☆☆☆☆
Found in Text Mining only
Focal cortical dysplasia Focal cortical dysplasia BEFREE 27173016
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Pancreatic neoplasm Pubtator 31917448 Associate
★☆☆☆☆
Found in Text Mining only