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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ZNF750
zinc finger protein 750
Chromosome 17 · 17q25.3
NCBI Gene: 79755Ensembl: ENSG00000141579.7HGNC: HGNC:25843UniProt: Q32MQ0
38PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription repressor activity, RNA polymerase II-specificDNA-binding transcription activator activity, RNA polymerase II-specificprotein bindingseborrhea-like dermatitis with psoriasiform elementsesophageal cancersquamous cell lung carcinomaseborrheic keratosis
✦AI Summary

ZNF750 is a zinc finger transcription factor that serves as a master regulator of epidermal differentiation and homeostasis. In the epidermis, ZNF750 is expressed exclusively in differentiated keratinocytes and functions downstream of p63/TP63 to activate late differentiation genes, including KLF4 1. A critical function of ZNF750 involves suppressing inflammatory responses by recruiting the histone demethylase KDM1A to silence pattern recognition receptor genes (TLR3, IFIH1, DDX58) in differentiated keratinocytes 1. Loss of ZNF750 results in excessive inflammation resembling psoriatic skin 1. Additionally, ZNF750 regulates epidermal lipid homeostasis by directly controlling expression of enzymes involved in ceramide biosynthesis, thereby maintaining cutaneous barrier function 2. Beyond skin, ZNF750 functions as a tumor suppressor in esophageal squamous cell carcinoma (ESCC) by directly repressing SNAI1 promoter activity and inhibiting epithelial-mesenchymal transition 3. ZNF750 mutations are frequently observed in ESCC and correlate with poor prognosis 3. Germline ZNF750 mutations cause seborrhea-like dermatitis with psoriasiform elements, highlighting its essential role in skin health 2. ZNF750 also positively regulates GPR37 expression, indirectly contributing to ESCC radiosensitivity 4.

Sources cited
1
ZNF750 recruits KDM1A to silence PRR genes in differentiated keratinocytes, preventing excessive skin inflammation; ZNF750 loss causes psoriasis-like inflammation
PMID: 39353440
2
ZNF750 acts as a tumor suppressor in ESCC by directly repressing SNAI1 and inhibiting EMT; ZNF750 mutations are frequent in ESCC and correlate with poor prognosis
PMID: 32042337
3
ZNF750 frameshift mutations cause seborrhea-like dermatitis; ZNF750 regulates epidermal lipid homeostasis and ceramide biosynthesis for barrier function
PMID: 37115925
4
ZNF750 positively regulates GPR37 expression in ESCC, contributing to radiosensitivity
PMID: 39730361
5
ZNF750 identified as a previously uncharacterized mutated gene in ESCC with functional relevance
PMID: 24686850
6
ZNF750 mutations in patients and mouse models highlight defects in host immunity and epidermal barrier in seborrheic dermatitis pathobiology
PMID: 31310695
7
ZNF750 mutations are frequent in ocular sebaceous carcinomas
PMID: 34023105
Disease Associationsⓘ21
seborrhea-like dermatitis with psoriasiform elementsOpen Targets
0.55Moderate
esophageal cancerOpen Targets
0.47Moderate
squamous cell lung carcinomaOpen Targets
0.28Weak
seborrheic keratosisOpen Targets
0.24Weak
hair colorOpen Targets
0.23Weak
skin diseaseOpen Targets
0.20Weak
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeOpen Targets
0.12Weak
PEHO syndromeOpen Targets
0.12Weak
esophageal squamous cell carcinomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
squamous cell carcinomaOpen Targets
0.09Suggestive
psoriasisOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
nasopharyngeal carcinomaOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.07Suggestive
prostate cancerOpen Targets
0.06Suggestive
myeloid leukemiaOpen Targets
0.05Suggestive
SplenomegalyOpen Targets
0.05Suggestive
protozoa infectious diseaseOpen Targets
0.04Suggestive
ulerythema ophryogenesisOpen Targets
0.04Suggestive
Seborrhea-like dermatitis with psoriasiform elementsUniProt
Pathogenic Variants1
NM_024702.3(ZNF750):c.55_56dup (p.Gly20fs)Pathogenic
Seborrhea-like dermatitis with psoriasiform elements
☆☆☆☆2006→ Residue 20
View on ClinVar ↗
Related Genes
KLF4Protein interaction86%GRHL3Protein interaction74%CTBP1Protein interaction71%LCE7AShared pathway50%KPLCEShared pathway50%KRTDAPShared pathway50%
Tissue Expression6 tissues
Lung
100%
Heart
29%
Bone Marrow
14%
Brain
11%
Ovary
11%
Liver
11%
Gene Interaction Network
Click a node to explore
ZNF750KLF4GRHL3CTBP1LCE7AKPLCEKRTDAP
PROTEIN STRUCTURE
Preparing viewer…
PDB8SXM · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.55Moderately Constrained
pLIⓘ
0.89Intermediate
Observed/Expected LoF0.34 [0.22–0.55]
RankingsWhere ZNF750 stands among ~20K protein-coding genes
  • #10,577of 20,598
    Most Researched38
  • #5,191of 5,498
    Most Pathogenic Variants1
  • #3,567of 17,882
    Most Constrained (LOEUF)0.55 · top quartile
Genes detectedZNF750
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
The transcription regulators ZNF750 and LSD1/KDM1A dampen inflammation on the skin's surface by silencing pattern recognition receptors.
PMID: 39353440
Immunity · 2024
1.00
2
Novel ESCC-related gene ZNF750 as potential Prognostic biomarker and inhibits Epithelial-Mesenchymal Transition through directly depressing SNAI1 promoter in ESCC.
PMID: 32042337
Theranostics · 2020
0.90
3
Genomic and molecular characterization of esophageal squamous cell carcinoma.
PMID: 24686850
Nat Genet · 2014
0.80
4
GPR37-enhanced ubiquitination of ATP1A1 inhibits tumor progression and radiation resistance in esophageal squamous cell carcinoma.
PMID: 39730361
Cell Death Dis · 2024
0.70
5
ZFP750 affects the cutaneous barrier through regulating lipid metabolism.
PMID: 37115925
Sci Adv · 2023
0.60