WDR4

tRNA (guanine-N(7)-)-methyltransferase subunit WDR4 is an enzyme subunit that in humans is encoded by the WDR4 gene.^[5]

WDR4
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3CKK
Identifiers
Aliases	WDR4, TRM82, TRMT82, WD repeat domain 4, GAMOS6, MIGSB, hWH, Wuho
External IDs	OMIM: 605924; MGI: 1889002; HomoloGene: 32422; GeneCards: WDR4; OMA:WDR4 - orthologs
Gene location (Human) Chr. Chromosome 21 (human)[1] Band 21q22.3 Start 42,843,094 bp[1] End 42,879,568 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 B1 Start 31,713,296 bp[2] End 31,738,954 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gingival epithelium mucosa of transverse colon gonad gastrocnemius muscle pancreatic ductal cell testicle stromal cell of endometrium body of pancreas vagina ganglionic eminence Top expressed in epiblast yolk sac embryo embryo ventricular zone primitive streak granulocyte lens morula blastocyst More reference expression data BioGPS n/a
Gene ontology Molecular function tRNA (guanine-N7-)-methyltransferase activity protein binding Cellular component nucleoplasm nucleus cytosol tRNA methyltransferase complex Biological process RNA (guanine-N7)-methylation tRNA modification tRNA processing tRNA (guanine-N7)-methylation tRNA methylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10785 57773 Ensembl ENSG00000160193 ENSMUSG00000024037 UniProt P57081 Q9EP82 RefSeq (mRNA) NM_001260474 NM_001260475 NM_001260476 NM_001260477 NM_018669 NM_033661 NM_021322 RefSeq (protein) NP_001247403 NP_001247404 NP_001247405 NP_001247406 NP_061139 NP_387510 NP_067297 Location (UCSC) Chr 21: 42.84 – 42.88 Mb Chr 17: 31.71 – 31.74 Mb PubMed search [3] [4]
Wikidata
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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. Two transcript variants encoding the same protein have been found for this gene.^[5]

See also

• Galloway Mowat syndrome (GAMOS6 is related to this gene)