WDR37

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
View/Edit Human View/Edit Mouse

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

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

References

1. GRCh38: Ensembl release 89: ENSG00000047056 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000021147 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Jul 1999). "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 6 (1): 63–70. doi: 10.1093/dnares/6.1.63 . PMID   10231032.
6. Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (Mar 2001). "Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC   311072 . PMID   11230166.
7. "Entrez Gene: WDR37 WD repeat domain 37".
8. Reis LM, Sorokina EA, Thompson S, Muheisen S, Velinov M, Zamora C, Aylsworth AS, Semina EV (2019) De novo missense variants in WDR37 cause a severe multisystemic syndrome. Am J Hum Genet
9. Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV (2019) De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia. Am J Hum Genet

Further reading

• Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC   310948 . PMID   11076863.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Deloukas P, Earthrowl ME, Grafham DV, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375–81. Bibcode:2004Natur.429..375D. doi: 10.1038/nature02462 . PMID   15164054.
• Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to Biology: A Functional Genomics Pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC   528930 . PMID   15489336.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC   1347501 . PMID   16381901.