Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84219
Gene name	WD repeat domain 24
Gene symbol	WDR24
Synonyms (NCBI Gene)	C16orf21JFP7
Chromosome	16
Chromosome location	16p13.3

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002181	Process	Cytoplasmic translation	IDA	8706699, 34314702
GO:0005515	Function	Protein binding	IPI	16189514, 25263562, 25416956, 26449471, 26586190, 26972053, 28199315
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	28199306
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005774	Component	Vacuolar membrane	IBA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0006914	Process	Autophagy	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010506	Process	Regulation of autophagy	IMP	27166823
GO:0016020	Component	Membrane	IEA
GO:0016239	Process	Positive regulation of macroautophagy	IBA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031669	Process	Cellular response to nutrient levels	IDA	29236692, 29750193, 31601708, 31601764
GO:0031669	Process	Cellular response to nutrient levels	IDA	35831510, 36528027
GO:0032008	Process	Positive regulation of TOR signaling	IEA
GO:0032008	Process	Positive regulation of TOR signaling	IMP	27166823
GO:0034198	Process	Cellular response to amino acid starvation	IBA
GO:0034198	Process	Cellular response to amino acid starvation	IDA	35338845
GO:0034198	Process	Cellular response to amino acid starvation	IMP	23723238
GO:0038202	Process	TORC1 signaling	IDA	12087098, 29750193
GO:0045947	Process	Negative regulation of translational initiation	IDA	22578813
GO:0045948	Process	Positive regulation of translational initiation	IDA	1922062, 29750193
GO:0046872	Function	Metal ion binding	IEA
GO:0061462	Process	Protein localization to lysosome	IDA	31601708
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	36528027, 36732624
GO:0061700	Component	GATOR2 complex	IBA
GO:0061700	Component	GATOR2 complex	IDA	35831510, 36528027
GO:0061700	Component	GATOR2 complex	NAS	23723238
GO:0085020	Process	Protein K6-linked ubiquitination	IDA	36528027
GO:1904262	Process	Negative regulation of TORC1 signaling	IDA	30651352, 35338845
GO:1904262	Process	Negative regulation of TORC1 signaling	NAS	23723238
GO:1904263	Process	Positive regulation of TORC1 signaling	IBA
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	29236692, 31601708, 31601764
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	35831510, 36528027, 36732624
GO:1904263	Process	Positive regulation of TORC1 signaling	IEA
GO:1904263	Process	Positive regulation of TORC1 signaling	IMP	36577058
GO:1904263	Process	Positive regulation of TORC1 signaling	NAS	23723238

MIM	HGNC	e!Ensembl
620307	20852	ENSG00000127580

Q96S15

Protein name

GATOR2 complex protein WDR24 (EC 2.3.2.27) (WD repeat-containing protein 24)

Protein function

Catalytic component of the GATOR2 complex, a multiprotein complex that acts as an activator of the amino acid-sensing branch of the mTORC1 signaling pathway (PubMed:23723238, PubMed:26449471, PubMed:26586190, PubMed:27487210, PubMed:35831510, Pu

PDB

7UHY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	197 → 236	WD domain, G-beta repeat	Repeat

Sequence

MEKMSRVTTALGGSVLTGRTMHCHLDAPANAISVCRDAAQVVVAGRSIFKIYAIEEEQFV
EKLNLRVGRKPSLNLSCADVVWHQMDENLLATAATNGVVVTWNLGRPSRNKQDQLFTEHK
RTVNKVCFHPTEAHVLLSGSQDGFMKCFDLRRKDSVSTFSGQSESVRDVQFSIRDYFTFA
STFENGNVQLWDIRRPDRCERMFTAHNGPVFCCDWHPEDRGWLATGGRDKMVKVWDMTTH
RAKEMHCVQTIASVARVKWRPECRHHLATCSMMVDHNIYVWDVRRPFVPAAMFEEHRDVT
TGIAWRHPHDPSFLLSGSKDSSLCQHLFRDASQPVERANPEGLCYGLFGDLAFAAKESLV
AAESGRKPYTGDRRHPIFFKRKLDPAEPFAGLASSALSVFETEPGGGGMRWFVDTAERYA
LAGRPLAELCDHNAKVARELGRNQVAQTWTMLRIIYCSPGLVPTANLNHSVGKGGSCGLP
LMNSFNLKDMAPGLGSETRLDRSKGDARSDTVLLDSSATLITNEDNEETEGSDVPADYLL
GDVEGEEDELYLLDPEHAHPEDPECVLPQEAFPLRHEIVDTPPGPEHLQDKADSPHVSGS
EADVASLAPVDSSFSLLSVSHALYDSRLPPDFFGVLVRDMLHFYAEQGDVQMAVSVLIVL
GERVRKDIDEQTQEHWYTSYIDLLQRFRLWNVSNEVVKLSTSRAVSCLNQASTTLHVNCS
HCKRPMSSRGWVCDRCHRCASMCAVCHHVVKGLFVWCQGCSHGGHLQHIMKWLEGSSHCP
AGCGHLCEYS

Sequence length

790

Interactions

View interactions

	KEGG		Reactome
	mTOR signaling pathway		Amino acids regulate mTORC1

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)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STIP1 HOMOLOGY AND U-BOX CONTAINING PROTEIN 1 DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 48	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36995937	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

WDR24 (WD repeat domain 24)