HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SP6
Sp6 transcription factor
Chromosome 17 Β· 17q21.32
NCBI Gene: 80320Ensembl: ENSG00000189120.6HGNC: HGNC:14530UniProt: B3KXP2
19PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmprotein bindingregulation of transcription by RNA polymerase IIRNA polymerase II cis-regulatory region sequence-specific DNA bindingamelogenesis imperfecta, IIa 1Kamelogenesis imperfectahair colorHypoplastic amelogenesis imperfecta
✦AI Summary

SP6 is a zinc-finger transcription factor that regulates cell fate decisions and developmental processes through chr17 remodeling. Mechanistically, SP6 functions by interacting with histone acetyltransferase P300 to modulate H3K27ac deposition at regulatory elements, thereby controlling transcriptional programs 1. SP6 also acts as a downstream effector of FOXO4 to activate surface epithelium-specific genes through super-enhancer modifications 2. In tooth development, SP6 is essential for enamel formation and ameloblast differentiation; mice lacking SP6 exhibit complete absence of differentiated ameloblasts and enamel, altered molar cusp patterns, and supernumerary teeth formation 3. SP6 controls human cytotrophoblast fate decisions by targeting MSX2 regulatory elements, suggesting its role in placental development and disease pathology 1. Clinically, mutations in SP6 are associated with amelogenesis imperfecta 1K, a condition affecting enamel mineralization and development. These findings establish SP6 as a crucial epigenetic regulator governing ectodermal and extragonadal development through precise chr17 remodeling mechanisms.

Sources cited
1
SP6 controls cytotrophoblast fate and trophoblast stem cell establishment; interacts with P300 to alter H3K27ac landscape at regulatory elements
PMID: 38582082
2
SP6-deficient mice exhibit complete lack of differentiated ameloblasts, no enamel formation, altered molar cusp patterns, and supernumerary teeth
PMID: 20886441
3
SP6 acts as effector of FOXO4 axis to govern surface epithelium commitment; activates SE-specific genes through H3K27ac modulation at super-enhancers
PMID: 40086444
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
amelogenesis imperfecta, IIa 1KOpen Targets
0.61Moderate
amelogenesis imperfectaOpen Targets
0.46Moderate
hair colorOpen Targets
0.42Moderate
Hypoplastic amelogenesis imperfectaOpen Targets
0.39Weak
atrial fibrillationOpen Targets
0.26Weak
pulmonary embolismOpen Targets
0.14Weak
eye diseaseOpen Targets
0.13Weak
tooth agenesisOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
Hypomaturation amelogenesis imperfectaOpen Targets
0.08Suggestive
metabolic syndromeOpen Targets
0.08Suggestive
tricho-dento-osseous syndromeOpen Targets
0.08Suggestive
Generalized junctional epidermolysis bullosa, non-Herlitz typeOpen Targets
0.07Suggestive
dentin dysplasia type IOpen Targets
0.07Suggestive
OligodontiaOpen Targets
0.07Suggestive
autosomal recessive hypohidrotic ectodermal dysplasiaOpen Targets
0.07Suggestive
pili tortiOpen Targets
0.07Suggestive
amelogenesis imperfecta, type ijOpen Targets
0.07Suggestive
otodental syndromeOpen Targets
0.07Suggestive
EEM syndromeOpen Targets
0.07Suggestive
Amelogenesis imperfecta 1KUniProt
Pathogenic Variants2
NM_001258248.2(SP6):c.817_818delinsAT (p.Ala273Met)Pathogenic
Amelogenesis imperfecta|Amelogenesis imperfecta, IIa 1K
β˜†β˜†β˜†β˜†2022β†’ Residue 273
NM_001258248.2(SP6):c.817_818delinsAA (p.Ala273Lys)Pathogenic
Amelogenesis imperfecta, IIa 1K
β˜†β˜†β˜†β˜†2022β†’ Residue 273
View on ClinVar β†—
Related Genes
ACRV1Protein interaction88%PCSK5Protein interaction88%LIPNProtein interaction88%SSUH2Shared pathway50%TUFT1Shared pathway33%EPB41L5Shared pathway33%
Tissue Expression6 tissues
Lung
100%
Brain
50%
Ovary
40%
Heart
14%
Bone Marrow
12%
Liver
5%
Gene Interaction Network
Click a node to explore
SP6ACRV1PCSK5LIPNSSUH2TUFT1EPB41L5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q3SY56
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.87LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.54 [0.34–0.87]
RankingsWhere SP6 stands among ~20K protein-coding genes
  • #14,550of 20,598
    Most Researched19
  • #4,562of 5,498
    Most Pathogenic Variants2
  • #7,718of 17,882
    Most Constrained (LOEUF)0.87
Genes detectedSP6
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
SP6 controls human cytotrophoblast fate decisions and trophoblast stem cell establishment by targeting MSX2 regulatory elements.
PMID: 38582082
Dev Cell Β· 2024
1.00
2
The efficacy and cerebral mechanism of intradermal acupuncture for major depressive disorder: a multicenter randomized controlled trial.
PMID: 39648209
Neuropsychopharmacology Β· 2025
0.90
3
Teaching self-acupuncture survey report.
PMID: 34892982
Acupunct Med Β· 2022
0.80
4
Acupuncture for senile insomnia: A systematic review of acupuncture point.
PMID: 39096556
Arch Gerontol Geriatr Β· 2024
0.70
5
Epiprofin/Sp6: a new player in the regulation of tooth development.
PMID: 20886441
Histol Histopathol Β· 2010
0.60