Gene Gene information from NCBI Gene database.
Entrez ID 10785
Gene name WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit
Gene symbol WDR4
Synonyms (NCBI Gene)
GAMOS6MIGSBTRM82TRMT82WuhohWH
Chromosome 21
Chromosome location 21q22.3
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 information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs776760122 ->G Pathogenic, uncertain-significance Frameshift variant, coding sequence variant, non coding transcript variant
rs779449710 T>C,G Pathogenic Intron variant, splice acceptor variant
rs1292041526 C>A,T Pathogenic Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs1555976610 T>A,G Pathogenic, uncertain-significance Intron variant, non coding transcript variant, missense variant, coding sequence variant
rs1569314907 ->GCAGTCCTGGAGCACCC Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
121
miRTarBase ID miRNA Experiments Reference
MIRT006119 hsa-miR-25-3p Luciferase reporter assayqRT-PCRWestern blot 21953056
MIRT006119 hsa-miR-25-3p Luciferase reporter assayqRT-PCRWestern blot 21953056
MIRT006119 hsa-miR-25-3p Luciferase reporter assayqRT-PCRWestern blot 21953056
MIRT006119 hsa-miR-25-3p Luciferase reporter assayqRT-PCRWestern blot 21953056
MIRT006119 hsa-miR-25-3p Luciferase reporter assayqRT-PCRWestern blot 21953056
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 15861136, 16189514, 25416956, 26751069, 31515488, 32296183, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 15861136
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm HDA 16780588
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605924 12756 ENSG00000160193
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P57081
Protein name tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 (Protein Wuho homolog) (hWH) (WD repeat-containing protein 4)
Protein function Non-catalytic component of the METTL1-WDR4 methyltransferase complex required for the formation of N(7)-methylguanine in a subset of RNA species, such as tRNAs, mRNAs and microRNAs (miRNAs) (PubMed:12403464, PubMed:31031083, PubMed:31031084, Pub
PDB 7U20 , 8CTH , 8CTI , 8D58 , 8D9K , 8D9L , 8EG0 , 8H0N
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 178 217 WD domain, G-beta repeat Repeat
Sequence
MAGSVGLALCGQTLVVRGGSRFLATSIASSDDDSLFIYDCSAAEKKSQENKGEDAPLDQG
SGAILASTFSKSGSYFALTDDSKRLILFRTKPWQCLSVRTVARRCTALTFIASEEKVLVA
DKSGDVYSFSVLEPHGCGRLELGHLSMLLDVAVSPDDRFILTADRDEKIRVSWAAAPHSI
ESFCLGHTEFVSRISVVPTQPGLLLSSSGDGTLRLWE
YRSGRQLHCCHLASLQELVDPQA
PQKFAASRIAFWCQENCVALLCDGTPVVYIFQLDARRQQLVYRQQLAFQHQVWDVAFEET
QGLWVLQDCQEAPLVLYRPVGDQWQSVPESTVLKKVSGVLRGNWAMLEGSAGADASFSSL
YKATFDNVTSYLKKKEERLQQQLEKKQRRRSPPPGPDGHAKKMRPGEATLSC
Sequence length 412
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Galloway-Mowat syndrome Likely pathogenic rs779449710 RCV001254699
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Galloway-Mowat syndrome 6 Likely pathogenic; Pathogenic rs2517012381, rs776760122, rs1555976610, rs1292041526, rs1569314907, rs779449710 RCV003326685
RCV000758713
RCV000758712
RCV000758710
RCV000758711
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly, growth deficiency, seizures, and brain malformations Likely pathogenic rs1021769927 RCV003337928
★★★★☆
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
Acute myeloid leukemia Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GALLOWAY MOWAT SYNDROME Disgenet
★★☆☆☆
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
Aqueductal Stenosis Aqueductal Stenosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 36733406 Associate
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 26416026 Associate
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 34282052, 36599985 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37528384 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 28691927
★☆☆☆☆
Found in Text Mining only
Cataract Congenital Nuclear Autosomal Recessive 2 Congenital cataract Pubtator 36599982 Associate
★☆☆☆☆
Found in Text Mining only
Chronic myeloproliferative disorder Myeloproliferative disorder GENOMICS_ENGLAND_DG 29597095
★☆☆☆☆
Found in Text Mining only
Clinodactyly of the 5th finger Camptodactyly of fingers HPO_DG
★☆☆☆☆
Found in Text Mining only