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

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10785
Gene name Gene Name - the full gene name approved by the HGNC.
WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
WDR4
Synonyms (NCBI Gene) Gene synonyms aliases
GAMOS6, MIGSB, TRM82, TRMT82, Wuho, hWH
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 assay, qRT-PCR, Western blot 21953056
MIRT006119 hsa-miR-25-3p Luciferase reporter assay, qRT-PCR, Western blot 21953056
MIRT006119 hsa-miR-25-3p Luciferase reporter assay, qRT-PCR, Western blot 21953056
MIRT006119 hsa-miR-25-3p Luciferase reporter assay, qRT-PCR, Western blot 21953056
MIRT006119 hsa-miR-25-3p Luciferase reporter assay, qRT-PCR, Western blot 21953056
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605924 12756 ENSG00000160193
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Galloway-Mowat Syndrome Galloway-Mowat syndrome 6 rs776760122, rs1555976610, rs1292041526, rs1569314907, rs779449710 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Microcephaly microcephaly, growth deficiency, seizures, and brain malformations N/A N/A GenCC
Show/Hide Text Mining Associations (26)
Associations from Text Mining Disease 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