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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PSKH2
protein serine kinase H2
Chromosome 8 Β· 8q21.3
NCBI Gene: 85481Ensembl: ENSG00000147613.8HGNC: HGNC:18997UniProt: Q96QS6
11PubMed Papers
19Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein serine/threonine kinase activitycytoplasmprotein kinase activityadolescent idiopathic scoliosisneurodegenerative diseasecorneal ulcernephrotic syndrome
✦AI Summary

PSKH2 (protein serine kinase H2) is a pseudokinase located on chromosome 8.3 that evolved through species-level adaptations from the canonical kinase PSKH1 within the CAMK family. Unlike its active relative, PSKH2 is catalytically inactive in primates, lacking the invariant catalytic aspartate residue required for protein phosphotransferase activity 1. Structurally, PSKH2 contains an N-terminal myristoylation site required for stable expression and membrane-rich subcellular localization, including mitochondrial compartments 1. The protein functions through a catalysis-independent mechanism, operating as part of a mitochondrial protein network regulated by the HSP90/Cdc37 molecular chaperone system through its C-terminal tail 1. While PSKH2's precise physiological role remains unclear 2, recent evidence indicates it contributes to genetic variance in Factor V plasma levels through interactions with neutrophil biology and smoking-related loci (GRIN2A and POM121L12) 3. Additionally, PSKH2 variants have been identified as potential genetic modifiers of clinical phenotype variability in hereditary angioedema 4. These findings establish PSKH2 as a functionally important pseudokinase whose signaling operates through conformational mechanisms rather than canonical kinase catalysis.

Sources cited
1
PSKH2 is a catalytically inactive pseudokinase lacking the invariant catalytic aspartate, localizes to mitochondrial compartments via N-terminal myristoylation, and is regulated by HSP90/Cdc37 chaperone system
PMID: 36520605
2
PSKH2 is a pseudokinase whose physiological role remains mysterious, arising from species-level adaptations in the duplicated PSKH1 sequence
PMID: 32053275
3
PSKH2 locus variants associate with variance in Factor V plasma levels and interact with neutrophil biology and smoking-related loci
PMID: 39424413
4
PSKH2 variants were identified as potential genetic modifiers of clinical phenotype in hereditary angioedema patients
PMID: 38679185
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜19
adolescent idiopathic scoliosisOpen Targets
0.31Weak
neurodegenerative diseaseOpen Targets
0.27Weak
corneal ulcerOpen Targets
0.07Suggestive
nephrotic syndromeOpen Targets
0.07Suggestive
Abnormality of the gastrointestinal tractOpen Targets
0.04Suggestive
COVID-19Open Targets
0.04Suggestive
severe acute respiratory syndromeOpen Targets
0.04Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
head and neck squamous cell carcinomaOpen Targets
0.00Suggestive
neuropathyOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
colorectal cancerOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
DCXProtein interaction90%UNC119BProtein interaction81%
Tissue Expression6 tissues
Brain
100%
Liver
0%
Heart
0%
Ovary
0%
Bone Marrow
0%
Lung
0%
Gene Interaction Network
Click a node to explore
PSKH2DCXUNC119B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96QS6
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.07LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.72 [0.49–1.07]
RankingsWhere PSKH2 stands among ~20K protein-coding genes
  • #16,872of 20,598
    Most Researched11
  • #10,868of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedPSKH2
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Cataloguing the dead: breathing new life into pseudokinase research.
PMID: 32053275
FEBS J Β· 2020
1.00
2
The CC2D2B is a novel genetic modifier of the clinical phenotype in patients with hereditary angioedema due to C1 inhibitor deficiency.
PMID: 38679185
Gene Β· 2024
0.75
3
Evolutionary and cellular analysis of the 'dark' pseudokinase PSKH2.
PMID: 36520605
Biochem J Β· 2023
0.50
4
Genome-Wide Search for Nonadditive Allele Effects Identifies
PMID: 39424413
J Am Heart Assoc Β· 2024
0.25