WDR37

WD repeat-containing protein 37 is a protein that in humans is encoded by the WDR37 gene.^[5][6][7]

WDR37
Identifiers
Aliases	WDR37, WD repeat domain 37, NOCGUS
External IDs	MGI: 1920393; HomoloGene: 40914; GeneCards: WDR37; OMA:WDR37 - orthologs
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10p15.3 Start 1,049,538 bp[1] End 1,132,384 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13|13 A1 Start 8,853,004 bp[2] End 8,921,945 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte tibia middle temporal gyrus parietal pleura tendon of biceps brachii granulocyte amniotic fluid tibialis anterior muscle Brodmann area 23 internal globus pallidus Top expressed in superior cervical ganglion zygote hand otolith organ secondary oocyte utricle spermatid interventricular septum retinal pigment epithelium dentate gyrus of hippocampal formation granule cell More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 22884 207615 Ensembl ENSG00000047056 ENSMUSG00000021147 UniProt Q9Y2I8 Q8CBE3 RefSeq (mRNA) NM_014023 NM_001039388 NM_001039389 NM_172445 RefSeq (protein) NP_054742 NP_001034477 NP_001034478 NP_766033 Location (UCSC) Chr 10: 1.05 – 1.13 Mb Chr 13: 8.85 – 8.92 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.^[7]

Clinical

Mutations in this gene have been linked to a number of lesions in humans.^[8][9] These include

• Corneal opacity/Peters anomaly
• Coloboma
• Microcornea
• Cerebellar hypoplasia
• Epilepsy
• Dysmorphic facial features
• Variable skeletal, cardiac and genitourinary defects
• Significant neurological impairment with structural brain defects and seizures
• Poor feeding
• Poor post-natal growth
• Death in infancy