WDR4 (WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (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
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (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
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (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.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605924 12756 ENSG00000160193
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
ESFCLGHTEFVSRISVVPTQPGLLLSSSGDGTLRLWEYRSGRQLHCCHLASLQELVDPQA
PQKFAASRIAFWCQENCVALLCDGTPVVYIFQLDARRQQLVYRQQLAFQHQVWDVAFEET
QGLWVLQDCQEAPLVLYRPVGDQWQSVPESTVLKKVSGVLRGNWAMLEGSAGADASFSSL
YKATFDNVTSYLKKKEERLQQQLEKKQRRRSPPPGPDGHAKKMRPGEATLSC
Sequence length 412
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
66
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Galloway-Mowat syndrome Likely pathogenic rs779449710 RCV001254699
Galloway-Mowat syndrome 6 Likely pathogenic; Pathogenic rs2517012381, rs776760122, rs1555976610, rs1292041526, rs1569314907, rs779449710 RCV003326685
RCV000758713
RCV000758712
RCV000758710
RCV000758711
RCV000758714
Microcephaly, growth deficiency, seizures, and brain malformations Likely pathogenic rs1021769927 RCV003337928
Show/Hide Unknown Diseases (7)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign; Uncertain significance rs149569805, rs367704779 RCV005928433
RCV005926599
Adrenocortical carcinoma, hereditary Uncertain significance rs367704779 RCV005926600
Familial cancer of breast Benign rs1888521, rs7279447 RCV005919728
RCV005920154
Melanoma Uncertain significance rs367704779 RCV005926601
Show/Hide Text Mining Associations (26)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 36635678, 37116150, 38281298
Astrocytoma Associate 36733406
Brain Diseases Associate 26416026
Carcinogenesis Associate 34282052, 36599985
Carcinoma Hepatocellular Associate 37528384
Carcinoma Non Small Cell Lung Associate 37821451
Cataract Congenital Nuclear Autosomal Recessive 2 Associate 36599982
Central Nervous System Vascular Malformations Associate 36599982
Colitis Ulcerative Associate 37055577
Developmental Disabilities Associate 30079490