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    PIP4K2A phosphatidylinositol-5-phosphate 4-kinase type 2 alpha [ Homo sapiens (human) ]

    Gene ID: 5305, updated on 28-Oct-2024

    Summary

    Official Symbol
    PIP4K2Aprovided by HGNC
    Official Full Name
    phosphatidylinositol-5-phosphate 4-kinase type 2 alphaprovided by HGNC
    Primary source
    HGNC:HGNC:8997
    See related
    Ensembl:ENSG00000150867 MIM:603140; AllianceGenome:HGNC:8997
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PIPK; PI5P4KA; PIP5K2A; PIP5KIIA; PIP5KII-alpha
    Summary
    Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in brain (RPKM 41.4), lymph node (RPKM 29.9) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PIP4K2A in Genome Data Viewer
    Location:
    10p12.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (22534854..22714578, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (22553890..22733579, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (22823783..23003507, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376450 Neighboring gene uncharacterized LOC124902392 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2211 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:22765793-22766476 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:22802372-22803008 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:22832411-22833042 Neighboring gene uncharacterized LOC124902393 Neighboring gene tRNA-Pro (GGG) 1-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3137 Neighboring gene NANOG hESC enhancer GRCh37_chr10:22899474-22900008 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:22904391-22904959 Neighboring gene Sharpr-MPRA regulatory region 2326 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:22912555-22913055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3145 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:22979554-22980468 Neighboring gene VISTA enhancer hs2048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3147 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2213 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2214 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2212 Neighboring gene hESC enhancers GRCh37_chr10:23003153-23003761 and GRCh37_chr10:23003762-23004369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3148 Neighboring gene RNA, U6 small nuclear 413, pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:23099405-23099995 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:23099996-23100585 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:23113377-23114576 Neighboring gene uncharacterized LOC105376451

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ13267

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in autophagosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in lysosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in photoreceptor inner segment IEA
    Inferred from Electronic Annotation
    more info
     
    located_in photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    phosphatidylinositol 5-phosphate 4-kinase type-2 alpha
    Names
    1-phosphatidylinositol 5-phosphate 4-kinase 2-alpha
    1-phosphatidylinositol-4-phosphate kinase
    1-phosphatidylinositol-4-phosphate-5-kinase
    PI(5)P 4-kinase type II alpha
    PI5P4Kalpha
    PIP4KII-alpha
    PIP5KIII
    PIP5KIIalpha
    diphosphoinositide kinase 2-alpha
    phosphatidylinositol 5-phosphate 4-kinase type II alpha
    phosphatidylinositol-4-phosphate 5-kinase, type II, alpha
    NP_001316991.1
    NP_005019.2
    XP_006717513.1
    XP_016871819.1
    XP_016871820.1
    XP_047281307.1
    XP_054222063.1
    XP_054222064.1

    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_001330062.2NP_001316991.1  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 5'-terminal exon resulting in a different 5' UTR and use of a downstream AUG compared to variant 1. It encodes isoform 2, which has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AK294817, AL513128
      Consensus CDS
      CCDS81443.1
      UniProtKB/Swiss-Prot
      P48426
      Related
      ENSP00000442098.1, ENST00000545335.5
      Conserved Domains (1) summary
      cl28923
      Location:1344
      PIPKc; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain family
    2. NM_005028.5NP_005019.2  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform 1

      See identical proteins and their annotated locations for NP_005019.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL390318, AL513128, BC018034, DB504104
      Consensus CDS
      CCDS7141.1
      UniProtKB/Swiss-Prot
      B0YJ66, B4DGX2, D3DRV1, P48426, P53807, Q5VUX3
      Related
      ENSP00000365757.4, ENST00000376573.9
      Conserved Domains (1) summary
      cd17309
      Location:27403
      PIPKc_PIP5K2A; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha (PIP5K2A) and similar proteins

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      22534854..22714578 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006717450.3XP_006717513.1  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform X1

      See identical proteins and their annotated locations for XP_006717513.1

      Conserved Domains (1) summary
      cl28923
      Location:27352
      PIPKc; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain family
    2. XM_017016330.2XP_016871819.1  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform X2

      UniProtKB/Swiss-Prot
      P48426
      Conserved Domains (1) summary
      cl28923
      Location:1344
      PIPKc; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain family
    3. XM_047425351.1XP_047281307.1  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform X2

    4. XM_017016331.2XP_016871820.1  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform X2

      UniProtKB/Swiss-Prot
      P48426
      Conserved Domains (1) summary
      cl28923
      Location:1344
      PIPKc; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      22553890..22733579 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366088.1XP_054222063.1  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform X1

    2. XM_054366089.1XP_054222064.1  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform X2