PPIP5K2

diphosphoinositol pentakisphosphate kinase 2 | CFAP160, KIAA0433, VIP2, DFNB100, HISPPD1

This gene encodes a member of the histidine acid phosphatase family of proteins. Despite containing a histidine acid phosphatase domain, the encoded protein functions as an inositol pyrophosphate kinase, and is thought to lack phosphatase activity. This kinase activity is the mechanism by which the encoded protein synthesizes high-energy inositol pyrophosphates, which act as signaling molecules that regulate cellular homeostasis and other processes. This gene may be associated with autism spectrum disorder in human patients. [provided by RefSeq, Sep 2016]

Member of: DE-3 DE-3.19

Biological processes 24 terms

5-diphosphoinositol pentakisphosphate 1-kinase activity (GO:0033857)5-diphosphoinositol pentakisphosphate 1-kinase activity (GO:0033857)5-diphosphoinositol pentakisphosphate 1-kinase activity (GO:0033857)5-diphosphoinositol pentakisphosphate 1-kinase activity (GO:0033857)ATP binding (GO:0005524)cytosol (GO:0005829)cytosol (GO:0005829)cytosol (GO:0005829)cytosol (GO:0005829)cytosol (GO:0005829)diphosphoinositol pentakisphosphate kinase activity (GO:0000829)diphosphoinositol pentakisphosphate kinase activity (GO:0000829)inositol hexakisphosphate 1-kinase activity (GO:0052723)inositol hexakisphosphate 5-kinase activity (GO:0000832)inositol hexakisphosphate kinase activity (GO:0000828)inositol hexakisphosphate kinase activity (GO:0000828)inositol hexakisphosphate kinase activity (GO:0000828)inositol hexakisphosphate kinase activity (GO:0000828)inositol metabolic process (GO:0006020)inositol phosphate biosynthetic process (GO:0032958)inositol phosphate metabolic process (GO:0043647)inositol phosphate metabolic process (GO:0043647)inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)protein binding (GO:0005515)

Expression (TPM)

TFs regulating PPIP5K2 0 TFs

Transcription factors with Perturb-seq knockdown data for PPIP5K2. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = PPIP5K2 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

TF	Mean coef	Binding	Outlier	TF→Gene link

Rows:

Elements linked to PPIP5K2

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of PPIP5K2, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Element	Dist. to TSS	Link type	TFs
chr5:102,753,823–102,756,422	365.1 kb	Distal (>10kb) Multiome HiCAR	821
chr5:102,865,225–102,866,661	254.4 kb	Distal (>10kb) Multiome	621
chr5:103,119,392–103,121,169	65 bp	At TSS Multiome	1050
chr5:103,223,049–103,225,117	104.5 kb	Distal (>10kb) Multiome	339
chr5:103,243,524–103,244,857	123.7 kb	Distal (>10kb) Multiome	129
chr5:103,258,219–103,260,199	138.4 kb	Distal (>10kb) Multiome	874

Genome Browser

Genomic view of the PPIP5K2 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.