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    ALPK2 alpha kinase 2 [ Homo sapiens (human) ]

    Gene ID: 115701, updated on 27-Dec-2024

    Summary

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    Official Symbol
    ALPK2provided by HGNC
    Official Full Name
    alpha kinase 2provided by HGNC
    Primary source
    HGNC:HGNC:20565
    See related
    Ensembl:ENSG00000198796 MIM:619965; AllianceGenome:HGNC:20565
    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
    HAK
    Summary
    Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Involved in several processes, including epicardium morphogenesis; heart development; and negative regulation of Wnt signaling pathway involved in heart development. Acts upstream of or within regulation of gene expression. Located in basolateral plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in heart (RPKM 9.8), lymph node (RPKM 2.0) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ALPK2 in Genome Data Viewer
    Location:
    18q21.31-q21.32
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (58481247..58629091, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (58681900..58830246, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (56148479..56296323, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene NEDD4 like E3 ubiquitin protein ligase Neighboring gene uncharacterized LOC105372143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:55862243-55862765 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:55862766-55863287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:55890569-55891162 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:55914788-55915293 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:55977766-55977988 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:55982687-55983886 Neighboring gene Sharpr-MPRA regulatory region 8690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13387 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:56045193-56045729 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:56045730-56046265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:56059391-56059890 Neighboring gene MIR122 host gene Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:56160423-56160924 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:56160925-56161424 Neighboring gene microRNA 3591 Neighboring gene microRNA 122 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:56178733-56179504 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:56179505-56180274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13388 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13389 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13390 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:56202574-56203773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13395 Neighboring gene uncharacterized LOC105372145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13396 Neighboring gene ALPK2 eExon liver enhancer Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:56248863-56249363 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:56251884-56252518 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:56278707-56279577 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:56296340-56296882 Neighboring gene small nucleolar RNA, H/ACA box 108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13399 Neighboring gene ribosomal protein L9 pseudogene 31 Neighboring gene long intergenic non-protein coding RNA 3110

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. A genomic variant of ALPK2 is associated with increased liver fibrosis risk in HIV/HCV coinfected women. McIntosh AT, et al. PLoS One, 2021. PMID 33705408, Free PMC Article
    2. Knockdown of ALPK2 blocks development and progression of renal cell carcinoma. Jiang J, et al. Exp Cell Res, 2020 Jul 15. PMID 32330508
    3. Hsa_circ_0065217 promotes growth and metastasis of renal cancer through regulating the miR-214-3p-ALPK2 axis. Yan JS, et al. Cell Cycle, 2021 Dec. PMID 34705617, Free PMC Article
    4. ALPK2 acts as tumor promotor in development of bladder cancer through targeting DEPDC1A. Wang Y, et al. Cell Death Dis, 2021 Jul 1. PMID 34210956, Free PMC Article
    5. ALPK2 is crucial for luminal apoptosis and DNA repair-related gene expression in a three-dimensional colonic-crypt model. Yoshida Y, et al. Anticancer Res, 2012 Jun. PMID 22641666

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hsa_circ_0065217 promotes growth and metastasis of renal cancer through regulating the miR-214-3p-ALPK2 axis.
      Title: Hsa_circ_0065217 promotes growth and metastasis of renal cancer through regulating the miR-214-3p-ALPK2 axis.
    2. ALPK2 acts as tumor promotor in development of bladder cancer through targeting DEPDC1A.
      Title: ALPK2 acts as tumor promotor in development of bladder cancer through targeting DEPDC1A.
    3. A genomic variant of ALPK2 is associated with increased liver fibrosis risk in HIV/HCV coinfected women.
      Title: A genomic variant of ALPK2 is associated with increased liver fibrosis risk in HIV/HCV coinfected women.
    4. Knockdown of ALPK2 blocks development and progression of renal cell carcinoma.
      Title: Knockdown of ALPK2 blocks development and progression of renal cell carcinoma.
    5. Results showed that p.Q1853E variant of ALPK2, which had been accumulating in the Japanese population, induced a metastatic phenotype of colorectal tumors by disrupting ALPK2 function.
      Title: An Alpha-kinase 2 Gene Variant Disrupts Filamentous Actin Localization in the Surface Cells of Colorectal Cancer Spheroids.
    6. ALPK2 is crucial for luminal apoptosis and expression of DNA repair-related genes, possibly in the transition of normal colonic crypt to adenoma.
      Title: ALPK2 is crucial for luminal apoptosis and DNA repair-related gene expression in a three-dimensional colonic-crypt model.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: linkage analysis and dense SNP mapping.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ34875, FLJ43253

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-phosphoinositide-dependent protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables AMP-activated protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-dependent protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables Rho-dependent protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables eukaryotic translation initiation factor 2alpha kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AS121 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AT120 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AXS139 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2BS14 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2BS36 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3S10 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3S28 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3S57 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3T11 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3T3 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3T45 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3T6 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H4S1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ribosomal protein S6 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cardiac muscle cell development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in epicardium morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in establishment of cell polarity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in heart morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of Wnt signaling pathway involved in heart development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    colocalizes_with basolateral plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    alpha-protein kinase 2
    Names
    heart alpha-kinase
    heart alpha-protein kinase
    NP_443179.3

    NCBI Reference Sequences (RefSeq)

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    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)

    1. NM_052947.4 → NP_443179.3  alpha-protein kinase 2

      See identical proteins and their annotated locations for NP_443179.3

      Status: VALIDATED

      Source sequence(s)
      AC104971, AC105105
      Consensus CDS
      CCDS11966.2
      UniProtKB/Swiss-Prot
      Q6ZUX0, Q86TB3, Q8NAT5, Q96L95
      Related
      ENSP00000354991.3, ENST00000361673.4
      Conserved Domains (5) summary
      cd00096
      Location:29 → 101
      Ig; Immunoglobulin domain
      smart00408
      Location:1802 → 1865
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:1802 → 1874
      IG_like; Immunoglobulin like
      smart00811
      Location:1905 → 2125
      Alpha_kinase; Alpha-kinase family
      pfam07679
      Location:14 → 104
      I-set; Immunoglobulin I-set domain

    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

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      58481247..58629091 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      58681900..58830246 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86TB3.3 GenPept UniProtKB/Swiss-Prot:Q86TB3

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools