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    NUAK2 NUAK family kinase 2 [ Homo sapiens (human) ]

    Gene ID: 81788, updated on 3-Apr-2024

    Summary

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    Official Symbol
    NUAK2provided by HGNC
    Official Full Name
    NUAK family kinase 2provided by HGNC
    Primary source
    HGNC:HGNC:29558
    See related
    Ensembl:ENSG00000163545 MIM:608131; AllianceGenome:HGNC:29558
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ANPH2; SNARK
    Summary
    Enables ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Involved in several processes, including cellular response to glucose starvation; negative regulation of apoptotic process; and protein phosphorylation. Predicted to be active in cytoplasm. Implicated in anencephaly. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in esophagus (RPKM 10.7), kidney (RPKM 9.5) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1q32.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (205302063..205321745, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (204566371..204586053, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (205271191..205290873, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene dual serine/threonine and tyrosine protein kinase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1733 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1734 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:205183288 Neighboring gene ribosomal protein L17 pseudogene 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1735 Neighboring gene TMCC2 antisense RNA 1 Neighboring gene transmembrane and coiled-coil domain family 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:205220889-205221086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205226461-205226970 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:205232393-205233090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205237153-205237653 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205238617-205239137 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:205240913 Neighboring gene Sharpr-MPRA regulatory region 11318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205243188-205243769 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205243770-205244352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205244961-205245620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2378 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:205263045-205264244 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:205269741-205270592 and GRCh37_chr1:205270593-205271445 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205271446-205272297 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205273151-205274001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2379 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1736 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1737 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205312405-205312965 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205319640-205320547 Neighboring gene kelch domain containing 8A Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 10 Neighboring gene Sharpr-MPRA regulatory region 5187 Neighboring gene Sharpr-MPRA regulatory region 658 Neighboring gene uncharacterized LOC105371698 Neighboring gene LEMD1 antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling. Bonnard C, et al. J Exp Med, 2020 Dec 7. PMID 32845958, Free PMC Article
    2. The AMPK-related kinase SNARK regulates hepatitis C virus replication and pathogenesis through enhancement of TGF-β signaling. Goto K, et al. J Hepatol, 2013 Nov. PMID 23831117, Free PMC Article
    3. Activation of AMP-activated protein kinase alleviates high-glucose-induced dysfunction of brain microvascular endothelial cell tight-junction dynamics. Liu C, et al. Free Radic Biol Med, 2012 Sep 15. PMID 22796592, Free PMC Article
    4. NUAK2: an emerging acral melanoma oncogene. Namiki T, et al. Oncotarget, 2011 Sep. PMID 21911917, Free PMC Article
    5. AMP kinase-related kinase NUAK2 affects tumor growth, migration, and clinical outcome of human melanoma. Namiki T, et al. Proc Natl Acad Sci U S A, 2011 Apr 19. PMID 21460252, Free PMC Article

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. OTUD7B deubiquitinates and stabilizes YAP1 to upregulate NUAK2 expression, thus accelerating gastric cancer procession.
      Title: OTUD7B deubiquitinates and stabilizes YAP1 to upregulate NUAK2 expression, thus accelerating gastric cancer procession.
    2. Enhanced SARS-CoV-2 entry via UPR-dependent AMPK-related kinase NUAK2.
      Title: Enhanced SARS-CoV-2 entry via UPR-dependent AMPK-related kinase NUAK2.
    3. Circ_0000033 up-regulates NUAK2 by sequestering miR-378a-3p to promote breast tumorigenesis.
      Title: Circ_0000033 up-regulates NUAK2 by sequestering miR-378a-3p to promote breast tumorigenesis.
    4. GPR65 promotes intestinal mucosal Th1 and Th17 cell differentiation and gut inflammation through downregulating NUAK2.
      Title: GPR65 promotes intestinal mucosal Th1 and Th17 cell differentiation and gut inflammation through downregulating NUAK2.
    5. NUAK2 silencing inhibits the proliferation, migration and epithelialtomesenchymal transition of cervical cancer cells via upregulating CYFIP2.
      Title: NUAK2 silencing inhibits the proliferation, migration and epithelial‑to‑mesenchymal transition of cervical cancer cells via upregulating CYFIP2.
    6. lncRNA FGD5AS1 promotes breast cancer progression by regulating the hsamiR1955p/NUAK2 axis.
      Title: lncRNA FGD5‑AS1 promotes breast cancer progression by regulating the hsa‑miR‑195‑5p/NUAK2 axis.
    7. A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.
      Title: A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.
    8. NUAK2 localization in normal skin and its expression in a variety of skin tumors with YAP.
      Title: NUAK2 localization in normal skin and its expression in a variety of skin tumors with YAP.
    9. Data (including data from studies in knockout and transgenic mice) suggest that NUAK2/SNARK is involved in both adipose inflammation and energy metabolism in adipocytes; additionally, genome-wide association studies suggest that 2 SNPs in NUAK2/SNARK (rs4682880, rs4682676) are associated with obesity in women.
      Title: Sucrose Nonfermenting-Related Kinase Regulates Both Adipose Inflammation and Energy Homeostasis in Mice and Humans.
    10. miR143 inhibited the proliferation, migration and invasion of the glioblastoma cells by degrading NUAK2 in glioblastoma.
      Title: miR-143 inhibits oncogenic traits by degrading NUAK2 in glioblastoma.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Anencephaly 2
    MedGen: C5561945 OMIM: 619452 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ90349, DKFZp434J037, DKFZp686F01113

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein serine/threonine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to glucose starvation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of hippo signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    NUAK family SNF1-like kinase 2
    Names
    NUAK family, SNF1-like kinase, 2
    SNF1/AMP activated protein kinase
    SNF1/AMP kinase-related kinase
    omphalocele kinase 2
    NP_112214.3
    XP_005245572.1
    XP_047287265.1
    XP_054194905.1
    XP_054194906.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_030952.3 → NP_112214.3  NUAK family SNF1-like kinase 2

      Status: VALIDATED

      Source sequence(s)
      AC098933
      Consensus CDS
      CCDS1453.3
      UniProtKB/Swiss-Prot
      Q9H093
      UniProtKB/TrEMBL
      B4E0Y5
      Related
      ENSP00000356125.5, ENST00000367157.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      205302063..205321745 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431309.1 → XP_047287265.1  NUAK family SNF1-like kinase 2 isoform X1

    2. XM_005245515.5 → XP_005245572.1  NUAK family SNF1-like kinase 2 isoform X2

      UniProtKB/TrEMBL
      Q68E04
      Conserved Domains (1) summary
      cl21453
      Location:1 → 56
      PKc_like; Protein Kinases, catalytic domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      204566371..204586053 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338930.1 → XP_054194905.1  NUAK family SNF1-like kinase 2 isoform X1

    2. XM_054338931.1 → XP_054194906.1  NUAK family SNF1-like kinase 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H093.1 GenPept UniProtKB/Swiss-Prot:Q9H093

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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