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    PIP4K2B phosphatidylinositol-5-phosphate 4-kinase type 2 beta [ Homo sapiens (human) ]

    Gene ID: 8396, updated on 2-May-2024

    Summary

    Official Symbol
    PIP4K2Bprovided by HGNC
    Official Full Name
    phosphatidylinositol-5-phosphate 4-kinase type 2 betaprovided by HGNC
    Primary source
    HGNC:HGNC:8998
    See related
    Ensembl:ENSG00000276293 MIM:603261; AllianceGenome:HGNC:8998
    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
    PI5P4KB; PIP5K2B; PIP5KIIB; PIP5P4KB; PIP5KIIbeta
    Summary
    The protein encoded by this gene catalyzes the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. The encoded protein sequence does not show similarity to other kinases, but the protein does exhibit kinase activity. Additionally, the encoded protein interacts with p55 TNF receptor. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 40.4), ovary (RPKM 23.8) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    17q12
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (38765691..38799556, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (39628767..39662641, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (36921944..36955809, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene tRNA-Asn (anticodon GTT) 2-5 Neighboring gene RNA, U6 small nuclear 866, pseudogene Neighboring gene proteasome 20S subunit beta 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:36954986-36955804 Neighboring gene CWC25 spliceosome associated protein homolog Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36980282-36980913 Neighboring gene microRNA 4727

    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
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 1-phosphatidylinositol-4-phosphate 5-kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables 1-phosphatidylinositol-4-phosphate 5-kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables 1-phosphatidylinositol-5-phosphate 4-kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in autophagosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 beta
    Names
    1-phosphatidylinositol 5-phosphate 4-kinase 2-beta
    1-phosphatidylinositol-4-phosphate kinase
    PI(5)P 4-kinase type II beta
    PIP4KII-beta
    PTDINS(4)P-5-kinase
    diphosphoinositide kinase 2-beta
    phosphatidylinositol 5-phosphate 4-kinase type II beta
    phosphatidylinositol-4-phosphate 5-kinase, type II, beta
    NP_003550.1
    XP_011523628.1
    XP_011523629.1
    XP_011523632.1
    XP_047292844.1
    XP_047292845.1
    XP_047292846.1
    XP_054173464.1
    XP_054173465.1
    XP_054173466.1
    XP_054173467.1
    XP_054173468.1
    XP_054173469.1
    XP_054185359.1
    XP_054185360.1
    XP_054185361.1
    XP_054185362.1
    XP_054185363.1
    XP_054185364.1

    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_003559.5NP_003550.1  phosphatidylinositol 5-phosphate 4-kinase type-2 beta

      See identical proteins and their annotated locations for NP_003550.1

      Status: REVIEWED

      Source sequence(s)
      AC006449, AI333549, U85245
      Consensus CDS
      CCDS11329.1
      UniProtKB/Swiss-Prot
      P78356, Q5U0E8, Q8TBP2
      Related
      ENSP00000482548.1, ENST00000619039.5
      Conserved Domains (1) summary
      cd17310
      Location:30413
      PIPKc_PIP5K2B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (PIP5K2B) and similar proteins

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      38765691..38799556 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525326.4XP_011523628.1  phosphatidylinositol 5-phosphate 4-kinase type-2 beta isoform X1

      See identical proteins and their annotated locations for XP_011523628.1

      Conserved Domains (1) summary
      cd00139
      Location:39443
      PIPKc; Phosphatidylinositol phosphate kinases (PIPK) catalyze the phosphorylation of phosphatidylinositol phosphate on the fourth or fifth hydroxyl of the inositol ring, to form phosphatidylinositol bisphosphate. CD alignment includes type II ...
    2. XM_011525327.3XP_011523629.1  phosphatidylinositol 5-phosphate 4-kinase type-2 beta isoform X2

      See identical proteins and their annotated locations for XP_011523629.1

      Conserved Domains (1) summary
      cl02572
      Location:1379
      PIPKc; Phosphatidylinositol phosphate kinases (PIPK) catalyze the phosphorylation of phosphatidylinositol phosphate on the fourth or fifth hydroxyl of the inositol ring, to form phosphatidylinositol bisphosphate. CD alignment includes type II ...
    3. XM_047436889.1XP_047292845.1  phosphatidylinositol 5-phosphate 4-kinase type-2 beta isoform X3

    4. XM_047436888.1XP_047292844.1  phosphatidylinositol 5-phosphate 4-kinase type-2 beta isoform X2

    5. XM_011525330.2XP_011523632.1  phosphatidylinositol 5-phosphate 4-kinase type-2 beta isoform X4

      See identical proteins and their annotated locations for XP_011523632.1

      Conserved Domains (1) summary
      cl02572
      Location:39283
      PIPKc; Phosphatidylinositol phosphate kinases (PIPK) catalyze the phosphorylation of phosphatidylinositol phosphate on the fourth or fifth hydroxyl of the inositol ring, to form phosphatidylinositol bisphosphate. CD alignment includes type II ...
    6. XM_047436890.1XP_047292846.1  phosphatidylinositol 5-phosphate 4-kinase type-2 beta isoform X5

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      2801010..2834875 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329384.1XP_054185359.1  phosphatidylinositol 5-phosphate 4-kinase type-2 beta isoform X1

    2. XM_054329386.1XP_054185361.1  phosphatidylinositol 5-phosphate 4-kinase type-2 beta isoform X2

    3. XM_054329387.1XP_054185362.1  phosphatidylinositol 5-phosphate 4-kinase type-2 beta isoform X3

    4. XM_054329385.1XP_054185360.1  phosphatidylinositol 5-phosphate 4-kinase type-2 beta isoform X2

    5. XM_054329388.1XP_054185363.1  phosphatidylinositol 5-phosphate 4-kinase type-2 beta isoform X4

    6. XM_054329389.1XP_054185364.1  phosphatidylinositol 5-phosphate 4-kinase type-2 beta isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      39628767..39662641 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317489.1XP_054173464.1  phosphatidylinositol 5-phosphate 4-kinase type-2 beta isoform X1

    2. XM_054317491.1XP_054173466.1  phosphatidylinositol 5-phosphate 4-kinase type-2 beta isoform X2

    3. XM_054317492.1XP_054173467.1  phosphatidylinositol 5-phosphate 4-kinase type-2 beta isoform X3

    4. XM_054317490.1XP_054173465.1  phosphatidylinositol 5-phosphate 4-kinase type-2 beta isoform X2

    5. XM_054317493.1XP_054173468.1  phosphatidylinositol 5-phosphate 4-kinase type-2 beta isoform X4

    6. XM_054317494.1XP_054173469.1  phosphatidylinositol 5-phosphate 4-kinase type-2 beta isoform X5

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_138687.1: Suppressed sequence

      Description
      NM_138687.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.