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PIP4K2C phosphatidylinositol-5-phosphate 4-kinase type 2 gamma [ Homo sapiens (human) ]

Gene ID: 79837, updated on 5-Jul-2020

Summary

Official Symbol
PIP4K2Cprovided by HGNC
Official Full Name
phosphatidylinositol-5-phosphate 4-kinase type 2 gammaprovided by HGNC
Primary source
HGNC:HGNC:23786
See related
Ensembl:ENSG00000166908 MIM:617104
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
PIP5K2C
Expression
Ubiquitous expression in testis (RPKM 18.0), kidney (RPKM 16.8) and 25 other tissues See more
Orthologs

Genomic context

See PIP4K2C in Genome Data Viewer
Location:
12q13.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (57591188..57603418)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57984942..57997211)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene methyl-CpG binding domain protein 6 Neighboring gene dynactin subunit 2 Neighboring gene kinesin family member 5A Neighboring gene deltex E3 ubiquitin ligase 3 Neighboring gene Rho guanine nucleotide exchange factor 25

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ22055

Gene Ontology Provided by GOA

Function Evidence Code Pubs
1-phosphatidylinositol-5-phosphate 4-kinase activity IEA
Inferred from Electronic Annotation
more info
 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
phosphatidylinositol phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of autophagosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of phosphatidylinositol 3-kinase signaling TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
autophagosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
phosphatidylinositol 5-phosphate 4-kinase type-2 gamma
Names
PI(5)P 4-kinase type II gamma
PIP4KII-gamma
phosphatidylinositol 4-phosphate 5-kinase
phosphatidylinositol 5-phosphate 4-kinase type II gamma
phosphatidylinositol-4-phosphate 5-kinase, type II, gamma
NP_001139730.1
NP_001139731.1
NP_001139732.1
NP_079055.3
XP_005269209.1
XP_011537049.1
XP_016875462.1

NCBI Reference Sequences (RefSeq)

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_001146258.2NP_001139730.1  phosphatidylinositol 5-phosphate 4-kinase type-2 gamma isoform a

    See identical proteins and their annotated locations for NP_001139730.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AC022506, KF459552
    Consensus CDS
    CCDS8946.1
    UniProtKB/Swiss-Prot
    Q8TBX8
    UniProtKB/TrEMBL
    B3KQV3
    Related
    ENSP00000439878.2, ENST00000540759.6
    Conserved Domains (1) summary
    smart00330
    Location:72420
    PIPKc; Phosphatidylinositol phosphate kinases
  2. NM_001146259.2NP_001139731.1  phosphatidylinositol 5-phosphate 4-kinase type-2 gamma isoform b

    See identical proteins and their annotated locations for NP_001139731.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses two alternate in-frame splice sites in the 5' coding region compared to variant 1. This results in a shorter protein (isoform b) compared to isoform a.
    Source sequence(s)
    AC022506, KF459552
    Consensus CDS
    CCDS55839.1
    UniProtKB/Swiss-Prot
    Q8TBX8
    Related
    ENSP00000447390.1, ENST00000550465.5
    Conserved Domains (1) summary
    smart00330
    Location:72402
    PIPKc; Phosphatidylinositol phosphate kinases
  3. NM_001146260.2NP_001139732.1  phosphatidylinositol 5-phosphate 4-kinase type-2 gamma isoform c

    See identical proteins and their annotated locations for NP_001139732.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an in-frame exon in the 5' coding region codon compared to variant 1. The encoded isoform (c) is shorter than isoform a.
    Source sequence(s)
    AC022506, KF459552
    Consensus CDS
    CCDS53808.1
    UniProtKB/Swiss-Prot
    Q8TBX8
    Related
    ENSP00000412035.3, ENST00000422156.7
    Conserved Domains (1) summary
    smart00330
    Location:72372
    PIPKc; Phosphatidylinositol phosphate kinases
  4. NM_024779.5NP_079055.3  phosphatidylinositol 5-phosphate 4-kinase type-2 gamma isoform a

    See identical proteins and their annotated locations for NP_079055.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AC022506, KF459552
    Consensus CDS
    CCDS8946.1
    UniProtKB/Swiss-Prot
    Q8TBX8
    Related
    ENSP00000347032.5, ENST00000354947.10
    Conserved Domains (1) summary
    smart00330
    Location:72420
    PIPKc; Phosphatidylinositol phosphate kinases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    57591188..57603418
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269152.3XP_005269209.1  phosphatidylinositol 5-phosphate 4-kinase type-2 gamma isoform X1

    Conserved Domains (1) summary
    smart00330
    Location:72407
    PIPKc; Phosphatidylinositol phosphate kinases
  2. XM_011538747.2XP_011537049.1  phosphatidylinositol 5-phosphate 4-kinase type-2 gamma isoform X3

    Conserved Domains (1) summary
    cl02572
    Location:45230
    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_017019973.2XP_016875462.1  phosphatidylinositol 5-phosphate 4-kinase type-2 gamma isoform X2

    Conserved Domains (1) summary
    cl02572
    Location:1250
    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 ...
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