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NUAK2
Identifiers
Aliases	NUAK2, SNARK, NUAK family kinase 2, ANPH2
External IDs	OMIM: 608131; MGI: 1921387; HomoloGene: 12539; GeneCards: NUAK2; OMA:NUAK2 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1q32.1 Start 205,302,063 bp End 205,321,745 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1|1 E4 Start 132,243,864 bp End 132,261,226 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in blood mucosa of ileum gingival epithelium mucosa of pharynx granulocyte epithelium of esophagus palpebral conjunctiva renal medulla mucosa of transverse colon kidney tubule Top expressed in right kidney jejunum granulocyte proximal tubule human kidney mesenteric lymph nodes ileum epithelium of lens colon duodenum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding protein binding protein kinase activity metal ion binding kinase activity transferase activity protein serine/threonine kinase activity ATP binding magnesium ion binding Cellular component cytoplasm nucleus Biological process phosphorylation apoptotic process actin cytoskeleton organization negative regulation of apoptotic process intracellular signal transduction protein phosphorylation cellular response to glucose starvation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 81788 74137 Ensembl ENSG00000163545 ENSMUSG00000009772 UniProt Q9H093 Q8BZN4 RefSeq (mRNA) NM_030952 NM_001195025 NM_028778 RefSeq (protein) NP_112214 NP_001181954 NP_083054 Location (UCSC) Chr 1: 205.3 – 205.32 Mb Chr 1: 132.24 – 132.26 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

NUAK family SNF1-like kinase 2 also known as SNF1/AMP kinase-related kinase (SNARK) is an enzyme that in humans is encoded by the NUAK2 gene. Its deficiency in humans causes anencephaly, a severe form of anterior neural tube defect that curtails brain development.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000163545 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000009772 – 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. 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.
6. "Entrez Gene: NUAK2 NUAK family, SNF1-like kinase, 2".
7. Bonnard C, Navaratnam N, Ghosh K, Chan PW, Tan TT, Pomp O, et al. (December 2020). "A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling". The Journal of Experimental Medicine. 217 (12). doi:10.1084/jem.20191561. PMC 7953732. PMID 32845958.

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.
• Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
• Lefebvre DL, Bai Y, Shahmolky N, et al. (2001). "Identification and characterization of a novel sucrose-non-fermenting protein kinase/AMP-activated protein kinase-related protein kinase, SNARK". Biochem. J. 355 (Pt 2): 297–305. doi:10.1042/0264-6021:3550297. PMC 1221739. PMID 11284715.
• 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.
• Suzuki A, Kusakai G, Kishimoto A, et al. (2004). "Induction of cell-cell detachment during glucose starvation through F-actin conversion by SNARK, the fourth member of the AMP-activated protein kinase catalytic subunit family". Biochem. Biophys. Res. Commun. 311 (1): 156–61. doi:10.1016/j.bbrc.2003.09.184. PMID 14575707.
• 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.
• Lizcano JM, Göransson O, Toth R, et al. (2005). "LKB1 is a master kinase that activates 13 kinases of the AMPK subfamily, including MARK/PAR-1". EMBO J. 23 (4): 833–43. doi:10.1038/sj.emboj.7600110. PMC 381014. PMID 14976552.
• Legembre P, Schickel R, Barnhart BC, Peter ME (2004). "Identification of SNF1/AMP kinase-related kinase as an NF-kappaB-regulated anti-apoptotic kinase involved in CD95-induced motility and invasiveness". J. Biol. Chem. 279 (45): 46742–7. doi:10.1074/jbc.M404334200. PMID 15345718.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• 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.
• Barrios-Rodiles M, Brown KR, Ozdamar B, et al. (2005). "High-throughput mapping of a dynamic signaling network in mammalian cells". Science. 307 (5715): 1621–5. Bibcode:2005Sci...307.1621B. doi:10.1126/science.1105776. PMID 15761153. S2CID 39457788.
• 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.

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