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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PLCH2
phospholipase C eta 2
Chromosome 1 · 1p36.32
NCBI Gene: 9651Ensembl: ENSG00000149527.18HGNC: HGNC:29037UniProt: O75038
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic processphosphatidylinositol-4,5-bisphosphate phospholipase C activityphospholipase C-activating G protein-coupled receptor signaling pathwayplasma membraneschizophreniaAbnormality of refractiondeficiency anemiaobesity
✦AI Summary

PLCH2 encodes phospholipase C eta 2, a calcium-sensitive enzyme that mediates production of second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) through phosphatidylinositol-specific phospholipase C activity 1. The enzyme plays important roles in neuronal development and calcium mobilization within the brain, particularly in processes including axon growth, synapse formation, and neurotransmitter responses 2. PLCH2 is expressed postnatally in the brain and may be critical for neuronal network formation and maintenance 2. Disease relevance includes associations with neurodevelopmental disorders; PLCH2 is a candidate gene for mental retardation in patients with 1p36 deletions 2, and rare compound heterozygous loss-of-function variants have been identified in bladder exstrophy cases 3. Additionally, PLCH2 methylation has been identified as a mediator in multiple pathophysiological contexts: mediating selenium exposure effects on blood lipid metabolism 4, serving as a prognostic biomarker in colorectal cancer pyroptosis-related pathways 5, functioning as a biomarker in abdominal aortic aneurysm with expression primarily in T cells 6, and mediating male age effects on reproductive outcomes through sperm methylation changes 7. PLCH2 also represents a candidate disease gene from exome sequencing studies in Saudi Arabian populations with Mendelian phenotypes 8.

Sources cited
1
PLCH2 mediates production of DAG and IP3 through phosphatidylinositol-specific phospholipase C activity
PMID: 18361507
2
PLCH2 (PI-PLC η2) is a key enzyme in cellular calcium mobilization expressed in the brain after birth; involved in axon growth, synapse formation, and neurotransmitter responses; candidate gene for mental retardation in 1p36 deletion syndrome
PMID: 21474938
3
Rare compound heterozygous loss-of-function variants in PLCH2 identified in bladder exstrophy cases
PMID: 34355505
4
PLCH2 methylation (cg15824094) mediates the association between selenium exposure and total cholesterol increase
PMID: 36708841
5
PLCH2 identified as part of a pyroptosis-related gene signature for colorectal cancer prognosis prediction
PMID: 39155627
6
PLCH2 selected as a telomere-related biomarker for abdominal aortic aneurysm, predominantly expressed on T cells
PMID: 39234237
7
PLCH2 methylation mediates 64% of the effect of male age on lower fertilization rate in infertility treatment
PMID: 33547328
8
PLCH2 identified as a candidate disease gene in diagnostic genetic panels and exome sequencing of Saudi Arabian families
PMID: 28600779
9
PLCH2 associated with cumulative radon exposure in estrogen-receptor-positive normal-adjacent breast tissue at transcriptome-wide significance
PMID: 32723380
Disease Associationsⓘ20
schizophreniaOpen Targets
0.38Weak
Abnormality of refractionOpen Targets
0.32Weak
deficiency anemiaOpen Targets
0.30Weak
obesityOpen Targets
0.25Weak
azoospermiaOpen Targets
0.24Weak
atrial fibrillationOpen Targets
0.21Weak
amyotrophic lateral sclerosisOpen Targets
0.17Weak
celiac diseaseOpen Targets
0.17Weak
rheumatoid arthritisOpen Targets
0.07Suggestive
achalasia-alacrima syndromeOpen Targets
0.04Suggestive
kidney diseaseOpen Targets
0.03Suggestive
Hashimoto's thyroiditisOpen Targets
0.03Suggestive
VitiligoOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
arthritisOpen Targets
0.02Suggestive
microphthalmia with limb anomaliesOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
juvenile dermatomyositisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
IPMKProtein interaction95%PIP5K1CProtein interaction94%PIP5KL1Protein interaction93%PIK3CGProtein interaction93%INPP5JProtein interaction93%PTENProtein interaction92%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
94%
Brain
26%
Lung
14%
Ovary
3%
Heart
1%
Gene Interaction Network
Click a node to explore
PLCH2IPMKPIP5K1CPIP5KL1PIK3CGINPP5JPTEN
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O75038
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.01LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.72–1.01]
RankingsWhere PLCH2 stands among ~20K protein-coding genes
  • #13,038of 20,598
    Most Researched25
  • #9,869of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedPLCH2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
1.00
2
Associations of selenium exposure with blood lipids: Exploring mediating DNA methylation sites in general Chinese urban non-smokers.
PMID: 36708841
Sci Total Environ · 2023
0.90
3
A Pyroptosis-Related Gene Signature Predicts Prognosis and Tumor Immune Microenvironment in Colorectal Cancer.
PMID: 39155627
Technol Cancer Res Treat · 2024
0.80
4
Deciphering the causal association and underlying transcriptional mechanisms between telomere length and abdominal aortic aneurysm.
PMID: 39234237
Front Immunol · 2024
0.70
5
Low dose environmental radon exposure and breast tumor gene expression.
PMID: 32723380
BMC Cancer · 2020
0.60