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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PKNOX2
PBX/knotted 1 homeobox 2
Chromosome 11 · 11q24.2
NCBI Gene: 63876Ensembl: ENSG00000165495.17HGNC: HGNC:16714UniProt: B7ZAF3
33PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmprotein bindingsequence-specific double-stranded DNA bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindingAbnormality of the skeletal systemprostate carcinomaalcohol drinkingcentral nervous system cancer
✦AI Summary

PKNOX2 (PBX/knotted 1 homeobox 2) is a TALE homeodomain transcription factor located on chromosome 11 that functions as a sequence-specific DNA-binding protein regulating transcription through RNA polymerase II 1. The gene encodes a 460-amino acid protein with conserved homeodomains (HR1, HR2) similar to PKNOX1, suggesting capacity to interact with PBX proteins and regulate tissue-specific transcription 1. PKNOX2 plays a critical role in cardiac homeostasis as a suppressor of pathological myocardial fibrosis. In healthy hearts, PKNOX2 is associated with physiological fibroblast activation; however, its expression abnormally decreases during pathological myofibroblast formation in failing hearts 2. Gain-of-function studies improved myocardial fibrosis while knockout aggravated fibrosis in heart failure models, establishing PKNOX2 as a potential therapeutic target 2. Beyond cardiac function, PKNOX2 associates with multiple disease phenotypes. Genome-wide association studies identified PKNOX2 variants as significantly associated with formal thought disorder in schizophrenia 3, alcohol dependence 4, 5, and endocarditis in males 6. PKNOX2 expression is downregulated in bone marrow mesenchymal stem cells from Fanconi anemia patients and responds to TGF-β1 signaling 7. The gene showed selection signatures in Northern Eurasian populations, suggesting roles in adaptation to environmental stress 8.

Sources cited
1
PKNOX2 is a novel regulator that suppresses pathological myocardial fibrosis; its expression decreases during pathological myofibroblast formation; gain/loss-of-function studies demonstrate inhibitory role in fibrosis
PMID: 38644381
2
PKNOX2 is a TALE homeodomain protein with 460 amino acids containing HR1, HR2, and homeodomain; located at 11q24; likely interacts with PBX proteins; shows tissue-specific expression pattern
PMID: 11549286
3
PKNOX2 SNP rs1783925 shows most significant association with formal thought disorder in schizophrenia (p=4.4×10⁻⁷)
PMID: 22648509
4
PKNOX2 at 11q24.4 is confirmed and associated with alcohol dependence (rs750338, p=1.47×10⁻⁶); replicated in Australian Twin-Family Study
PMID: 21703634
5
PKNOX2 variants associated with alcohol dependence at genome-wide significance in meta-analysis and combined samples
PMID: 25278008
6
Four intronic SNPs in PKNOX2 associated with endocarditis in males in V̇o2max phenome-wide association study
PMID: 37575066
7
PKNOX2 significantly downregulated in Fanconi anemia bone marrow mesenchymal stem cells; PKNOX2 expression increases in response to TGF-β1 stimulation
PMID: 30515693
8
PKNOX2 located in chromosome 11 region showing strongest positive selection signals in Siberian populations; associated with alcohol addiction
PMID: 32023328
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.43Moderate
prostate carcinomaOpen Targets
0.42Moderate
alcohol drinkingOpen Targets
0.34Weak
central nervous system cancerOpen Targets
0.32Weak
autosomal dominant compelling helio-ophthalmic outburst syndromeOpen Targets
0.31Weak
vertebral column disorderOpen Targets
0.30Weak
neurodegenerative diseaseOpen Targets
0.29Weak
Testicular Germ Cell TumorOpen Targets
0.29Weak
prostate cancerOpen Targets
0.27Weak
type 2 diabetes mellitusOpen Targets
0.27Weak
femur fractureOpen Targets
0.26Weak
ankylosing spondylitisOpen Targets
0.25Weak
central nervous system infectionOpen Targets
0.25Weak
idiopathic pulmonary fibrosisOpen Targets
0.25Weak
complicationOpen Targets
0.25Weak
drug allergyOpen Targets
0.24Weak
medical procedureOpen Targets
0.24Weak
trauma complicationOpen Targets
0.24Weak
vascular diseaseOpen Targets
0.22Weak
estrogen-receptor negative breast cancerOpen Targets
0.20Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HYLS1Protein interaction94%PBX1Protein interaction92%DDX25Protein interaction91%HOXB1Protein interaction78%PBX2Protein interaction78%HOXB2Protein interaction77%
Tissue Expression6 tissues
Ovary
100%
Lung
48%
Heart
43%
Brain
42%
Liver
5%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
PKNOX2HYLS1PBX1DDX25HOXB1PBX2HOXB2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96KN3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.39Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.25 [0.16–0.39]
RankingsWhere PKNOX2 stands among ~20K protein-coding genes
  • #11,386of 20,598
    Most Researched33
  • #1,920of 17,882
    Most Constrained (LOEUF)0.39 · top quartile
Genes detectedPKNOX2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PBX/Knotted 1 homeobox-2 (PKNOX2) is a novel regulator of myocardial fibrosis.
PMID: 38644381
Signal Transduct Target Ther · 2024
1.00
2
Identification and characterization of human PKNOX2, a novel homeobox-containing gene.
PMID: 11549286
Biochem Biophys Res Commun · 2001
0.90
3
PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies.
PMID: 22648509
J Mol Neurosci · 2012
0.80
4
Exploring shared genetics between maximal oxygen uptake and disease: the HUNT study.
PMID: 37575066
Physiol Genomics · 2023
0.70
5
PKNOX2 expression and regulation in the bone marrow mesenchymal stem cells of Fanconi anemia patients and healthy donors.
PMID: 30515693
Mol Biol Rep · 2019
0.60