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NUAK2

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
NUAK2
Identifiers
AliasesNUAK2, SNARK, NUAK family kinase 2, ANPH2
External IDsOMIM:608131;MGI:1921387;HomoloGene:12539;GeneCards:NUAK2;OMA:NUAK2 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for NUAK2
Genomic location for NUAK2
Band1q32.1Start205,302,063bp[1]
End205,321,745bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for NUAK2
Genomic location for NUAK2
Band1|1 E4Start132,243,864bp[2]
End132,261,226bp[2]
RNA expression pattern
Bgee
HumanMouse (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
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
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 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 asSNF1/AMP kinase-related kinase (SNARK) is anenzyme that in humans is encoded by theNUAK2gene.[5][6] Its deficiency in humans causesanencephaly, a severe form of anteriorneural tube defect that curtails brain development.[7]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000163545Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000009772Ensembl, 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

[edit]
Non-specific serine/threonine protein kinases (EC 2.7.11.1)
Pyruvate dehydrogenase kinase (EC 2.7.11.2)
Dephospho-(reductase kinase) kinase (EC 2.7.11.3)
3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring) kinase (EC 2.7.11.4)
(isocitrate dehydrogenase (NADP+)) kinase (EC 2.7.11.5)
(tyrosine 3-monooxygenase) kinase (EC 2.7.11.6)
Myosin-heavy-chain kinase (EC 2.7.11.7)
Fas-activated serine/threonine kinase (EC 2.7.11.8)
Goodpasture-antigen-binding protein kinase (EC 2.7.11.9)
  • -
IκB kinase (EC 2.7.11.10)
cAMP-dependent protein kinase (EC 2.7.11.11)
cGMP-dependent protein kinase (EC 2.7.11.12)
Protein kinase C (EC 2.7.11.13)
Rhodopsin kinase (EC 2.7.11.14)
Beta adrenergic receptor kinase (EC 2.7.11.15)
G-protein coupled receptor kinases (EC 2.7.11.16)
Ca2+/calmodulin-dependent (EC 2.7.11.17)
Myosin light-chain kinase (EC 2.7.11.18)
Phosphorylase kinase (EC 2.7.11.19)
Elongation factor 2 kinase (EC 2.7.11.20)
Polo kinase (EC 2.7.11.21)
Serine/threonine-specific protein kinases (EC 2.7.11.21-EC 2.7.11.30)
Polo kinase (EC 2.7.11.21)
Cyclin-dependent kinase (EC 2.7.11.22)
(RNA-polymerase)-subunit kinase (EC 2.7.11.23)
Mitogen-activated protein kinase (EC 2.7.11.24)
MAP3K (EC 2.7.11.25)
Tau-protein kinase (EC 2.7.11.26)
(acetyl-CoA carboxylase) kinase (EC 2.7.11.27)
  • -
Tropomyosin kinase (EC 2.7.11.28)
  • -
Low-density-lipoprotein receptor kinase (EC 2.7.11.29)
  • -
Receptor protein serine/threonine kinase (EC 2.7.11.30)
MAP2K
Activity
Regulation
Classification
Kinetics
Types
Portal:


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