NUAK2
Identifiers
AliasesNUAK2, SNARK, NUAK family kinase 2, ANPH2
External IDsOMIM: 608131 MGI: 1921387 HomoloGene: 12539 GeneCards: NUAK2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_030952

NM_001195025
NM_028778

RefSeq (protein)

NP_112214

NP_001181954
NP_083054

Location (UCSC)Chr 1: 205.3 – 205.32 MbChr 1: 132.24 – 132.26 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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.[5][6] It's deficiency in humans causes anencephaly, a severe form of anterior neural tube defect that curtails brain development.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163545 - Ensembl, May 2017
  2. ^ a b c 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