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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SIX4
SIX homeobox 4
Chromosome 14 · 14q23.1
NCBI Gene: 51804Ensembl: ENSG00000100625.9HGNC: HGNC:10890UniProt: Q9UIU6
46PubMed 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-specificRNA polymerase II cis-regulatory region sequence-specific DNA bindingpositive regulation of ureteric bud formationneurodegenerative diseaseprostate carcinomatype 2 diabetes mellitusfacial morphology
✦AI Summary

SIX4 is a sequence-specific transcriptional regulator that functions as both an activator and repressor, primarily controlling developmental processes across multiple organ systems. During embryogenesis, SIX4 cooperates with EYA proteins and SIX1 to regulate muscle development, kidney formation, gonad development, and cranial skeletal morphogenesis 1. In myogenesis, SIX4 transactivates myogenic regulatory factors (MYF5, MYOD1, MYF6, MYOG) and controls fast versus slow muscle fiber specification through coordinated activation of fast muscle genes and repression of slow muscle inhibitors 2. During kidney development, SIX4 regulates metanephric formation through GDNF, SALL1, PAX2, and PAX8 expression; homozygous loss in pigs results in severely impaired nephrogenesis 3. In muscle regeneration, SIX4 negatively regulates satellite cell differentiation and cooperates with Baf60c to suppress Dkk3-mediated paracrine signaling 2. Disease-relevant roles include colorectal cancer, where SIX4 activation by IL-6/STAT3 signaling forms a positive feedback loop driving inflammation and tumor stemness through DeltaNp63 induction 4. SIX4 is additionally overexpressed in glioblastoma, pancreatic cancer, and osteosarcoma, where its knockdown reduces cell viability, migration, and promotes apoptosis through modulation of apoptotic pathways and metabolic reprogramming 567.

Sources cited
1
SIX4 and SIX5 are required for primary abdominal wall growth and morphological changes; their deficiency causes omphalocele through impaired cell proliferation and coelomic epithelial cell transition
PMID: 30237319
2
SIX4 interacts with Baf60c to suppress myocyte Dkk3 expression, regulating muscle regeneration capacity in obesity and type 2 diabetes
PMID: 37284884
3
SIX1 and SIX4 are critical for porcine kidney development; their combined deletion prevents metanephros formation and causes abnormal expression of PAX2, PAX8, BMP4, EYA1, and SALL1
PMID: 30623494
4
SIX4 is upregulated in inflammatory bowel disease and colorectal cancer; activated by IL-6/STAT3 signaling to form a positive feedback loop and induce DeltaNp63-mediated tumor stemness
PMID: 39309424
5
SIX4 knockdown in glioblastoma cells reduces viability, sensitizes to temozolomide, increases apoptosis through Bax/caspase-9 upregulation, and decreases migration via MMP9 downregulation
PMID: 37093251
6
SIX4 is overexpressed in pancreatic cancer; its knockdown increases apoptosis and autophagy while reducing survival, colony formation, migration, and invasion
PMID: 37656231
7
SIX4 is overexpressed in osteosarcoma and promotes progression by upregulating IDH1, providing novel therapeutic targets
PMID: 36601689
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.50Moderate
prostate carcinomaOpen Targets
0.36Weak
type 2 diabetes mellitusOpen Targets
0.26Weak
facial morphologyOpen Targets
0.19Weak
neoplasmOpen Targets
0.10Suggestive
colorectal carcinomaOpen Targets
0.10Suggestive
esophageal squamous cell carcinomaOpen Targets
0.09Suggestive
response to vaccineOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.07Suggestive
colorectal cancerOpen Targets
0.07Suggestive
non-small cell lung carcinomaOpen Targets
0.06Suggestive
acute tonsillitisOpen Targets
0.06Suggestive
jaw diseaseOpen Targets
0.05Suggestive
Progressive visual lossOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
inflammatory bowel diseaseOpen Targets
0.04Suggestive
esophageal adenocarcinomaOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.03Suggestive
benign prostatic hyperplasiaOpen Targets
0.03Suggestive
open-angle glaucomaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EYA2Protein interaction95%EYA1Protein interaction88%EYA4Protein interaction80%KDM6AProtein interaction78%EYA3Protein interaction75%LBX1Protein interaction75%
Tissue Expression6 tissues
Brain
100%
Ovary
55%
Lung
27%
Heart
13%
Liver
11%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
SIX4EYA2EYA1EYA4KDM6AEYA3LBX1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9UIU6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.68LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.47 [0.34–0.68]
RankingsWhere SIX4 stands among ~20K protein-coding genes
  • #9,380of 20,598
    Most Researched46
  • #5,007of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedSIX4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
SIX4 Activation in Inflammatory Response Drives the Transformation of Colorectal Epithelium into Inflammation and Tumor via Feedback-Enhancing Inflammatory Signaling to Induce Tumor Stemness Signaling.
PMID: 39309424
Int J Biol Sci · 2024
1.00
2
Mice doubly deficient in
PMID: 30237319
Dis Model Mech · 2018
0.90
3
Myofiber Baf60c controls muscle regeneration by modulating Dkk3-mediated paracrine signaling.
PMID: 37284884
J Exp Med · 2023
0.80
4
Disabling of nephrogenesis in porcine embryos via CRISPR/Cas9-mediated SIX1 and SIX4 gene targeting.
PMID: 30623494
Xenotransplantation · 2019
0.70
5
Combination of SIX4-siRNA and temozolomide inhibits the growth and migration of A-172 glioblastoma cancer cells.
PMID: 37093251
Naunyn Schmiedebergs Arch Pharmacol · 2023
0.60