PIP5K1C
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PIP5K1C (HGNC:8996) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
PIP5Kgamma, KIAA0589, LCCS3
%HI
59.99(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.75(Read more about gnomAD LOEUF score)
Cytoband
19p13.3
Genomic Coordinates
GRCh37/hg19: chr19:3630181-3700466 NCBI Ensembl UCSC
GRCh38/hg38: chr19:3630183-3700468 NCBI Ensembl UCSC
MANE Select Transcript
NM_012398.3 ENST00000335312.8 (Read more about MANE Select)
Function
Catalyzes the phosphorylation of phosphatidylinositol 4- phosphate (PtdIns(4)P/PI4P) to form phosphatidylinositol 4,5- bisphosphate (PtdIns(4,5)P2/PIP2), a lipid second messenger that regulates several cellular processes such as signal transduction, vesicle trafficking, actin cytoskeleton dynamics, cell adhesion, and cell motility (PubMed:12422219, PubMed:22942276). PtdIns(4,5)P2 can directly act as a second messenger or can be utilized as a precursor to generate other second messengers: inosito... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-9566
ClinGen Curation ID:
CCID:007671
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • lethal congenital contracture syndrome 3 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000019.9) (NC_000019.10)