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    ALPK2 alpha kinase 2 [ Homo sapiens (human) ]

    Gene ID: 115701, updated on 9-Jun-2024

    Summary

    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. Colocalizes with basolateral plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in heart (RPKM 9.8), lymph node (RPKM 2.0) and 4 other tissues See more
    Orthologs
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    Genomic context

    See ALPK2 in Genome Data Viewer
    Location:
    18q21.31-q21.32
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (58481247..58629091, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (58681900..58830246, complement)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_052947.4NP_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:29101
      Ig; Immunoglobulin domain
      smart00408
      Location:18021865
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:18021874
      IG_like; Immunoglobulin like
      smart00811
      Location:19052125
      Alpha_kinase; Alpha-kinase family
      pfam07679
      Location:14104
      I-set; Immunoglobulin I-set domain

    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_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)