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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SIX2
SIX homeobox 2
Chromosome 2 · 2p21
NCBI Gene: 10736Ensembl: ENSG00000170577.9HGNC: HGNC:10888UniProt: Q8TBA2
48PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
kidney developmentsequence-specific double-stranded DNA bindingnucleoplasmcell migrationalcohol drinkingbenign soft tissue neoplasmfacial morphologyrespiratory tract infectious disorder
✦AI Summary

SIX2 is a transcription factor that plays critical roles in organ development and cellular maintenance across multiple systems. During kidney development, SIX2 maintains multipotent nephron progenitor cells in an undifferentiated state, with efficient protocols generating SIX2+ SALL1+ WT1+ PAX2+ nephron progenitor cells from human pluripotent stem cells 1. In pancreatic β cells, SIX2 coordinates functional maturation by regulating insulin processing, glucose sensing, and electrophysiology genes, with its knockdown severely impairing glucose-stimulated insulin secretion 23. SIX2 also functions in inflammatory regulation as part of a NIK-SIX signaling axis, where it acts as a negative feedback component targeting inflammatory gene promoters and inhibiting RELA and RELB transcription factors 4. The gene shows pathological relevance in cancer, where mutations occur in Wilms tumors 5, and in breast cancer, TRIM21-mediated SIX2 degradation suppresses stemness through LGSN regulation 6. Clinically, SIX2 haploinsufficiency causes a recognizable syndrome with ptosis, frontonasal dysplasia, and conductive hearing loss 7. SIX2 expression is widespread in fetal development but becomes restricted in adults 8, reflecting its fundamental role in developmental processes and tissue homeostasis.

Sources cited
1
SIX2 marks multipotent nephron progenitor cells that can be efficiently generated from human pluripotent stem cells
PMID: 26458176
2
SIX2 regulates functional maturation of human pancreatic β cells by controlling insulin processing, glucose sensing, and electrophysiology genes
PMID: 33446570
3
SIX2 knockdown or knockout severely impairs glucose-stimulated insulin secretion in stem cell-derived β cells
PMID: 32460030
4
SIX2 functions in a NIK-SIX signaling axis as a negative feedback regulator of inflammatory gene expression
PMID: 30894749
5
SIX2 mutations are found in Wilms tumors
PMID: 28825729
6
TRIM21-mediated SIX2 degradation suppresses breast cancer stemness through LGSN regulation
PMID: 40954199
7
SIX2 haploinsufficiency causes a syndrome with ptosis, frontonasal dysplasia, and conductive hearing loss
PMID: 29315086
8
SIX2 is widely expressed in fetal development but has limited expression sites in adults
PMID: 10773454
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.29Weak
benign soft tissue neoplasmOpen Targets
0.29Weak
facial morphologyOpen Targets
0.26Weak
respiratory tract infectious disorderOpen Targets
0.23Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.22Weak
hepatocellular carcinomaOpen Targets
0.21Weak
Alzheimer diseaseOpen Targets
0.20Weak
lung adenocarcinomaOpen Targets
0.19Weak
brain cancerOpen Targets
0.19Weak
secondary malignant neoplasmOpen Targets
0.19Weak
colon adenocarcinomaOpen Targets
0.19Weak
gastric adenocarcinomaOpen Targets
0.19Weak
squamous cell lung carcinomaOpen Targets
0.19Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.18Weak
esophageal adenocarcinomaOpen Targets
0.18Weak
Gallbladder AdenocarcinomaOpen Targets
0.18Weak
gastric carcinomaOpen Targets
0.18Weak
lung carcinomaOpen Targets
0.18Weak
rectal adenocarcinomaOpen Targets
0.18Weak
Small Intestinal Tubulovillous AdenomaOpen Targets
0.18Weak
Pathogenic Variants1
NM_016932.5(SIX2):c.760G>A (p.Ala254Thr)Likely pathogenic
not provided
★☆☆☆2017→ Residue 254
View on ClinVar ↗
Related Genes
EYA2Protein interaction94%EYA3Protein interaction88%EYA1Protein interaction86%PAX2Protein interaction86%SALL1Protein interaction86%EYA4Protein interaction80%
Tissue Expression6 tissues
Brain
100%
Heart
10%
Lung
3%
Ovary
1%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SIX2EYA2EYA3EYA1PAX2SALL1EYA4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8TBA2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.24LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.60–1.24]
RankingsWhere SIX2 stands among ~20K protein-coding genes
  • #9,131of 20,598
    Most Researched48
  • #5,115of 5,498
    Most Pathogenic Variants1
  • #13,083of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedSIX2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Nephron organoids derived from human pluripotent stem cells model kidney development and injury.
PMID: 26458176
Nat Biotechnol · 2015
1.00
2
A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor.
PMID: 28825729
Nat Genet · 2017
0.90
3
SIX2 and SIX3 coordinately regulate functional maturity and fate of human pancreatic β cells.
PMID: 33446570
Genes Dev · 2021
0.80
4
SIX2 Regulates Human β Cell Differentiation from Stem Cells and Functional Maturation In Vitro.
PMID: 32460030
Cell Rep · 2020
0.70
5
A NIK-SIX signalling axis controls inflammation by targeted silencing of non-canonical NF-κB.
PMID: 30894749
Nature · 2019
0.60