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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UNCX
UNC homeobox
Chromosome 7 · 7p22.3
NCBI Gene: 340260Ensembl: ENSG00000164853.9HGNC: HGNC:33194UniProt: A6NJT0
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificregulation of gene expressionchromatinAbnormality of the skeletal systemgoutkidney failurechronic kidney disease
✦AI Summary

UNCX is a paired-type homeodomain transcription factor with primary roles in skeletal development and neurogenesis 1. During normal development, UNCX regulates somitogenesis and is required for proper rib and vertebral patterning 2. The gene shows tissue-specific expression in the eye, brain, and kidney 1, and zebrafish studies suggest it coordinates growth and innervation of somitic muscles 3. In disease contexts, aberrant UNCX expression has been identified as leukemogenic in acute myeloid leukemia (AML), where epigenetic modifications elevate expression in approximately 37% of AML patients 1. Increased UNCX expression impairs myeloid cell proliferation and differentiation, with enrichment of gene expression changes affecting cell cycle regulators like MAP2K1 and CCNA1 1. More recently, a functional susceptibility variant (rs78148157) in an UNCX enhancer was identified as conferring genetic risk for adolescent idiopathic scoliosis through EGR1-mediated upregulation, with zebrafish studies demonstrating that excess UNCX causes body curvature and defective neurogenesis 4. Notably, UNCX shows evolutionary conservation in epigenetic aging signatures across vertebrates, with age-related methylation changes in neural developmental genes 5.

Sources cited
1
UNCX is a homeobox transcription factor involved in somitogenesis and neurogenesis; ectopic expression in AML impairs cell proliferation and differentiation
PMID: 28411256
2
A functional susceptibility variant for adolescent idiopathic scoliosis upregulates UNCX expression via EGR1; UNCX overexpression causes body curvature and defective neurogenesis in zebrafish
PMID: 36342191
3
UNCX is a somite gene required for rib and vertebral patterning during somitogenesis
PMID: 19268448
4
Uncx is a paired-type homeodomain transcription factor that coordinates growth and innervation of somitic muscles
PMID: 34530988
5
UNCX is a conserved neural-developmental gene showing age-related epigenetic changes in vertebrates
PMID: 37270437
6
UNCX protein detection evidence in HEK293 cells
PMID: 27581094
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.49Moderate
goutOpen Targets
0.41Moderate
kidney failureOpen Targets
0.36Weak
chronic kidney diseaseOpen Targets
0.35Weak
gastrointestinal diseaseOpen Targets
0.27Weak
neurodegenerative diseaseOpen Targets
0.26Weak
jaw diseaseOpen Targets
0.20Weak
benign neoplasmOpen Targets
0.19Weak
restless legs syndromeOpen Targets
0.13Weak
placenta praeviaOpen Targets
0.08Suggestive
acute myeloid leukemiaOpen Targets
0.07Suggestive
autosomal recessive spondylocostal dysostosisOpen Targets
0.06Suggestive
metatropic dysplasiaOpen Targets
0.05Suggestive
spondylometaphyseal dysplasia, A4 typeOpen Targets
0.05Suggestive
spondylocostal dysostosis 5Open Targets
0.05Suggestive
spondylocostal dysostosis 2, autosomal recessiveOpen Targets
0.05Suggestive
autosomal dominant brachyolmiaOpen Targets
0.05Suggestive
spondylocostal dysostosis 1, autosomal recessiveOpen Targets
0.05Suggestive
thoracolaryngopelvic dysplasiaOpen Targets
0.05Suggestive
spondyloepimetaphyseal dysplasia, matrilin-3 typeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PEG3Shared pathway100%TCF19Shared pathway100%ZNF711Shared pathway100%ZNF142Shared pathway100%ZNF239Shared pathway100%HNRNPDLShared pathway100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
50%
Heart
0%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
UNCXPEG3TCF19ZNF711ZNF142ZNF239HNRNPDL
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt A6NJT0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.10LoF Tolerant
pLIⓘ
0.17Tolerant
Observed/Expected LoF0.48 [0.24–1.10]
RankingsWhere UNCX stands among ~20K protein-coding genes
  • #16,037of 20,598
    Most Researched14
  • #11,313of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedUNCX
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
DNA methylation clocks for clawed frogs reveal evolutionary conservation of epigenetic aging.
PMID: 37270437
Geroscience · 2024
1.00
2
Epigenetically induced ectopic expression of UNCX impairs the proliferation and differentiation of myeloid cells.
PMID: 28411256
Haematologica · 2017
0.90
3
Identification of a Functional Susceptibility Variant for Adolescent Idiopathic Scoliosis that Upregulates Early Growth Response 1 (EGR1)-Mediated UNCX Expression.
PMID: 36342191
J Bone Miner Res · 2023
0.80
4
Characterization of paralogous uncx transcription factor encoding genes in zebrafish.
PMID: 34530988
Gene · 2019
0.70
5
Characterization of paralogous
PMID: 31193955
Gene X · 2019
0.60