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

Summary

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; protein phosphorylation; and regulation of hippo signaling. Located in nuclear speck. Implicated in anencephaly. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in esophagus (RPKM 10.7), kidney (RPKM 9.5) and 22 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 1q32.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (205302063..205321745, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (204566371..204586053, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (205271191..205290873, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues 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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D11S2560 (e-PCR)
- UniSTS:37928

MARC_27500-27501:1034792583:1 (e-PCR)
- UniSTS:269104

D8S2279 (e-PCR)
- UniSTS:473907

RH93941 (e-PCR)
- UniSTS:89399

SHGC-76219 (e-PCR)
- UniSTS:33632

D15S1477 (e-PCR)
- UniSTS:474482

RH80030 (e-PCR)
- UniSTS:87680

D11S3114 (e-PCR)
- UniSTS:152207

D11S2612 (e-PCR)
- UniSTS:70572

SHGC-149973 (e-PCR)
- UniSTS:177342

SHGC-76220 (e-PCR)
- UniSTS:24807

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
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	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to glucose starvation	IDA Inferred from Direct Assay more info	PubMed
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
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	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

Go to the top of the page Help

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

EC 2.7.11.1

XP_005245572.1

EC 2.7.11.1

XP_047287265.1

EC 2.7.11.1

XP_054194905.1

EC 2.7.11.1

XP_054194906.1

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

205302063..205321745 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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