WDR4 WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit
Gene ID: 10785, updated on 22-Jan-2025Gene type: protein coding
Also known as: hWH; Wuho; MIGSB; TRM82; GAMOS6; TRMT82
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- Go to complete Gene record for WDR4
- Go to Variation Viewer for WDR4 variants
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 complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Galloway-Mowat syndrome 6 | See labs |
| Genome-wide association study of selenium concentrations. GeneReviews: Not available | |
| Microcephaly, growth deficiency, seizures, and brain malformations | See labs |
Genomic context
- Location:
- 21q22.3
- Sequence:
- Chromosome: 21; NC_000021.9 (42843094..42892998, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for WDR4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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