WDR6 (WD repeat domain 6)

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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 11180
• Gene name: WD repeat domain 6
• Gene symbol: WDR6
• Synonyms (NCBI Gene): Trm734
• Chromosome: 3
• Chromosome location: 3p21.31
• Summary: This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein com

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs150300426	G>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA Show/Hide all (110)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003823	hsa-miR-197-3p	Microarray	16822819
MIRT052587	hsa-let-7a-5p	CLASH	23622248
MIRT049150	hsa-miR-92a-3p	CLASH	23622248
MIRT048308	hsa-miR-107	CLASH	23622248
MIRT046727	hsa-miR-222-3p	CLASH	23622248
MIRT040119	hsa-miR-615-3p	CLASH	23622248
MIRT039347	hsa-miR-425-5p	CLASH	23622248
MIRT036730	hsa-miR-760	CLASH	23622248
MIRT1491229	hsa-miR-214	CLIP-seq
MIRT1491230	hsa-miR-3148	CLIP-seq
MIRT1491231	hsa-miR-3619-5p	CLIP-seq
MIRT1491232	hsa-miR-3926	CLIP-seq
MIRT1491233	hsa-miR-4530	CLIP-seq
MIRT1491234	hsa-miR-4690-5p	CLIP-seq
MIRT1491235	hsa-miR-4753-3p	CLIP-seq
MIRT1491236	hsa-miR-4768-5p	CLIP-seq
MIRT1491237	hsa-miR-4786-5p	CLIP-seq
MIRT1491238	hsa-miR-548ac	CLIP-seq
MIRT1491239	hsa-miR-548d-3p	CLIP-seq
MIRT1491240	hsa-miR-548p	CLIP-seq
MIRT1491241	hsa-miR-548z	CLIP-seq
MIRT1491242	hsa-miR-634	CLIP-seq
MIRT1491243	hsa-miR-761	CLIP-seq
MIRT1491244	hsa-miR-769-5p	CLIP-seq
MIRT1491245	hsa-miR-875-3p	CLIP-seq
MIRT1557306	hsa-miR-3120-5p	CLIP-seq
MIRT1557307	hsa-miR-3150a-3p	CLIP-seq
MIRT1557308	hsa-miR-3175	CLIP-seq
MIRT1557309	hsa-miR-3655	CLIP-seq
MIRT1557310	hsa-miR-3945	CLIP-seq
MIRT1557311	hsa-miR-431	CLIP-seq
MIRT1557312	hsa-miR-4785	CLIP-seq
MIRT1557313	hsa-miR-939	CLIP-seq
MIRT2148074	hsa-miR-1976	CLIP-seq
MIRT2148075	hsa-miR-202	CLIP-seq
MIRT1491229	hsa-miR-214	CLIP-seq
MIRT2148076	hsa-miR-2467-3p	CLIP-seq
MIRT2148077	hsa-miR-3120-3p	CLIP-seq
MIRT2148078	hsa-miR-3130-3p	CLIP-seq
MIRT1491230	hsa-miR-3148	CLIP-seq
MIRT1557307	hsa-miR-3150a-3p	CLIP-seq
MIRT1557308	hsa-miR-3175	CLIP-seq
MIRT2148079	hsa-miR-342-5p	CLIP-seq
MIRT1491231	hsa-miR-3619-5p	CLIP-seq
MIRT1557309	hsa-miR-3655	CLIP-seq
MIRT2148080	hsa-miR-3678-3p	CLIP-seq
MIRT1557310	hsa-miR-3945	CLIP-seq
MIRT1557311	hsa-miR-431	CLIP-seq
MIRT2148081	hsa-miR-4484	CLIP-seq
MIRT1491233	hsa-miR-4530	CLIP-seq
MIRT2148082	hsa-miR-4648	CLIP-seq
MIRT2148083	hsa-miR-4651	CLIP-seq
MIRT2148084	hsa-miR-4664-5p	CLIP-seq
MIRT2148085	hsa-miR-4698	CLIP-seq
MIRT2148086	hsa-miR-4719	CLIP-seq
MIRT1557312	hsa-miR-4785	CLIP-seq
MIRT2148087	hsa-miR-513b	CLIP-seq
MIRT2148088	hsa-miR-545	CLIP-seq
MIRT2148089	hsa-miR-548an	CLIP-seq
MIRT1491240	hsa-miR-548p	CLIP-seq
MIRT2148090	hsa-miR-608	CLIP-seq
MIRT1491243	hsa-miR-761	CLIP-seq
MIRT1491245	hsa-miR-875-3p	CLIP-seq
MIRT2148091	hsa-miR-885-3p	CLIP-seq
MIRT1557313	hsa-miR-939	CLIP-seq
MIRT2368559	hsa-miR-1255a	CLIP-seq
MIRT2368560	hsa-miR-1255b	CLIP-seq
MIRT2368561	hsa-miR-1273f	CLIP-seq
MIRT2148074	hsa-miR-1976	CLIP-seq
MIRT2148075	hsa-miR-202	CLIP-seq
MIRT2148076	hsa-miR-2467-3p	CLIP-seq
MIRT1557306	hsa-miR-3120-5p	CLIP-seq
MIRT2148078	hsa-miR-3130-3p	CLIP-seq
MIRT1557307	hsa-miR-3150a-3p	CLIP-seq
MIRT1557308	hsa-miR-3175	CLIP-seq
MIRT2148079	hsa-miR-342-5p	CLIP-seq
MIRT2368562	hsa-miR-3605-5p	CLIP-seq
MIRT1557309	hsa-miR-3655	CLIP-seq
MIRT2148080	hsa-miR-3678-3p	CLIP-seq
MIRT1557310	hsa-miR-3945	CLIP-seq
MIRT1557311	hsa-miR-431	CLIP-seq
MIRT2148081	hsa-miR-4484	CLIP-seq
MIRT2368563	hsa-miR-452	CLIP-seq
MIRT2368564	hsa-miR-4640-5p	CLIP-seq
MIRT2148082	hsa-miR-4648	CLIP-seq
MIRT2148083	hsa-miR-4651	CLIP-seq
MIRT2148084	hsa-miR-4664-5p	CLIP-seq
MIRT2368565	hsa-miR-4676-3p	CLIP-seq
MIRT2368566	hsa-miR-4726-5p	CLIP-seq
MIRT1557312	hsa-miR-4785	CLIP-seq
MIRT1491237	hsa-miR-4786-5p	CLIP-seq
MIRT2368567	hsa-miR-520d-5p	CLIP-seq
MIRT2368568	hsa-miR-524-5p	CLIP-seq
MIRT2148089	hsa-miR-548an	CLIP-seq
MIRT2148090	hsa-miR-608	CLIP-seq
MIRT1491244	hsa-miR-769-5p	CLIP-seq
MIRT2148091	hsa-miR-885-3p	CLIP-seq
MIRT1557313	hsa-miR-939	CLIP-seq
MIRT2396952	hsa-miR-1251	CLIP-seq
MIRT1557306	hsa-miR-3120-5p	CLIP-seq
MIRT2396953	hsa-miR-4264	CLIP-seq
MIRT2396954	hsa-miR-593	CLIP-seq
MIRT2396955	hsa-miR-622	CLIP-seq
MIRT1557306	hsa-miR-3120-5p	CLIP-seq
MIRT2695220	hsa-miR-4468	CLIP-seq
MIRT2695221	hsa-miR-4677-3p	CLIP-seq
MIRT2695222	hsa-miR-4679	CLIP-seq
MIRT2695223	hsa-miR-4690-3p	CLIP-seq
MIRT1491234	hsa-miR-4690-5p	CLIP-seq
MIRT2695224	hsa-miR-626	CLIP-seq

Gene ontology (GO) Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IDA	32558197
GO:0002130	Process	Wobble position ribose methylation	IDA	32558197
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	17216128, 25416956, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	17216128
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0008033	Process	TRNA processing	IEA
GO:0008180	Component	COP9 signalosome	IDA	18850735
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	17216128
GO:0010507	Process	Negative regulation of autophagy	IMP	22354037
GO:0030234	Function	Enzyme regulator activity	IDA	32558197
GO:0030488	Process	TRNA methylation	IBA
GO:0070314	Process	G1 to G0 transition	IPI	17216128

Other IDs

• MIM: 606031
• HGNC: 12758
• e!Ensembl: ENSG00000178252

Protein

• UniProt ID: Q9NNW5
• Protein name: tRNA (34-2'-O)-methyltransferase regulator WDR6 (WD repeat-containing protein 6)
• Protein function: Together with methyltransferase FTSJ1, methylates the 2'-O-ribose of nucleotides at position 34 of the tRNA anticodon loop of substrate tRNAs (PubMed:32558197, PubMed:33771871). Required for the correct positioning of the substrate tRNA for meth
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	287 → 326	WD domain, G-beta repeat	Repeat
  PF00400	WD40	200 → 237	WD domain, G-beta repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10903905}.
• Sequence:

  MDALEDYVWPRATSELILLPVTGLECVGDRLLAGEGPDVLVYSLDFGGHLRMIKRVQNLL
  GHYLIHGFRVRPEPNGDLDLEAMVAVFGSKGLRVVKISWGQGHFWELWRSGLWNMSDWIW
  DARWLEGNIALALGHNSVVLYDPVVGCILQEVPCTDRCTLSSACLIGDAWKELTIVAGAV
  SNQLLVWYPATALADNKPVAPDRRISGHVGIIFSMSYLESKGLLATASEDRSVRIWKVGD
  LRVPGGRVQNIGHCFGHSARVWQVKLLENYLISAGEDCVCLVWSHEGEILQAFRGHQGRG
  IRAIAAHERQAWVITGGDDSGIRLWHLVGRGYRGLGVSALCFKSRSRPGTLKAVTLAGSW
  RLLAVTDTGALYLYDVEVKCWEQLLEDKHFQSYCLLEAAPGPEGFGLCAMANGEGRVKVV
  PINTPTAAVDQTLFPGKVHSLSWALRGYEELLLLASGPGGVVACLEISAAPSGKAIFVKE
  RCRYLLPPSKQRWHTCSAFLPPGDFLVCGDRRGSVLLFPSRPGLLKDPGVGGKARAGAGA
  PVVGSGSSGGGNAFTGLGPVSTLPSLHGKQGVTSVTCHGGYVYTTGRDGAYYQLFVRDGQ
  LQPVLRQKSCRGMNWLAGLRIVPDGSMVILGFHANEFVVWNPRSHEKLHIVNCGGGHRSW
  AFSDTEAAMAFAYLKDGDVMLYRALGGCTRPHVILREGLHGREITCVKRVGTITLGPEYG
  VPSFMQPDDLEPGSEGPDLTDIVITCSEDTTVCVLALPTTTGSAHALTAVCNHISSVRAV
  AVWGIGTPGGPQDPQPGLTAHVVSAGGRAEMHCFSIMVTPDPSTPSRLACHVMHLSSHRL
  DEYWDRQRNRHRMVKVDPETRYMSLAVCELDQPGLGPLVAAACSDGAVRLFLLQDSGRIL
  QLLAETFHHKRCVLKVHSFTHEAPNQRRRLLLCSAATDGSLAFWDLTTMLDHDSTVLEPP
  VDPGLPYRLGTPSLTLQAHSCGINSLHTLPTREGHHLVASGSEDGSLHVFVLAVEMLQLE
  EAVGEAGLVPQLRVLEEYSVPCAHAAHVTGLKILSPSIMVSASIDQRLTFWRLGHGEPTF
  MNSTVFHVPDVADMDCWPVSPEFGHRCALGGQGLEVYNWYD

• Sequence length: 1121

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Short stature	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anxiety	Anxiety disorder	Pubtator	39681175	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36039642	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36039642	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33523105	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	39681175	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for WDR6.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to WDR6.