ZNF750
Chr 17ADzinc finger protein 750
Also known as: SLDPE, ZFP750
This gene encodes a protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene have been associated with seborrhea-like dermatitis with psoriasiform elements. [provided by RefSeq, Jul 2008]
Primary Disease Associations & Inheritance
?Seborrhea-like dermatitis with psoriasiform elementsMIM #610227
AD
Clinical Summary— ZNF750
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Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.87) — some intolerance to loss-of-function variants.
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ClinVar Variants
26 Pathogenic / Likely Pathogenic· 157 VUS of 224 total submissions
Some data sources returned errors (1)
ensembl: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.41LOEUF
pLI 0.866
Z-score 3.16
OE 0.13 (0.05–0.41)
More LoF-intolerant than ~75% of genes
Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.07Z-score
OE missense 1.01 (0.93–1.09)
427 obs / 423.0 exp
Tolerant to missense variation
Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.13 (0.05–0.41)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.01 (0.93–1.09)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.08
0≤1.21.6
LoF obs/exp: 2 / 15.4Missense obs/exp: 427 / 423.0Syn Z: -0.92
ClinVar Variant Classifications
224 submitted variants in ClinVar
Classification Summary
Pathogenic21
Likely Pathogenic5
VUS157
Likely Benign21
Benign18
Conflicting2
21
Pathogenic
5
Likely Pathogenic
157
VUS
21
Likely Benign
18
Benign
2
Conflicting
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 0 | 20 | 0 | 21 |
Likely Pathogenic | 0 | 0 | 5 | 0 | 5 |
VUS | 1 | 121 | 35 | 0 | 157 |
Likely Benign | 0 | 13 | 1 | 7 | 21 |
Benign | 0 | 7 | 5 | 6 | 18 |
Conflicting | — | 2 | |||
| Total | 2 | 141 | 66 | 13 | 224 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ZNF750 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
Gene2Phenotype Curations
ZNF750-related seborrhea-like dermatitis with psoriasiform elements
moderateGene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
ZINC FINGER PROTEIN 750; ZNF750
MIM #610226 · *
Autosomal dominant
External Resources
Links to major genomics databases and tools
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
GPR37-enhanced ubiquitination of ATP1A1 inhibits tumor progression and radiation resistance in esophageal squamous cell carcinoma.
Hu J et al.·Cell Death Dis
2024
ZNF750 is a lineage-specific tumour suppressor in squamous cell carcinoma.
Hazawa M et al.·Oncogene
2017
Common variants of ZNF750, RPTOR and TRAF3IP2 genes and psoriasis risk.
Dębniak T et al.·Arch Dermatol Res
2014
ZNF750: A Novel Prognostic Biomarker in Metastatic Prostate Cancer.
Montanaro M et al.·Int J Mol Sci
2023
ZNF750 interacts with KLF4 and RCOR1, KDM1A, and CTBP1/2 chromatin regulators to repress epidermal progenitor genes and induce differentiation genes.
Boxer LD et al.·Genes Dev
2014
Novel ESCC-related gene ZNF750 as potential Prognostic biomarker and inhibits Epithelial-Mesenchymal Transition through directly depressing SNAI1 promoter in ESCC.
Kong P et al.·Theranostics
2020
ZNF750 inhibits the proliferation and invasion of melanoma cells through modulating the Wnt/b-catenin signaling pathway.
Du Y et al.·Folia Histochem Cytobiol
2020
ZNF750 Expression Is a Potential Prognostic Biomarker in Esophageal Squamous Cell Carcinoma.
Otsuka R et al.·Oncology
2018
m(6)A-mediated ZNF750 repression facilitates nasopharyngeal carcinoma progression.
Zhang P et al.·Cell Death Dis
2018
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Keratinocyte differentiation transcription factor ZNF750 coordinates the development of epidermal immunocytes.
Adar L et al.·Cell Rep
2025
ZNF750 Loss of Function Drives Spontaneous Psoriasiform Skin Inflammation.
Levi H et al.·JID Innov
2026Open Access
The transcription regulators ZNF750 and LSD1/KDM1A dampen inflammation on the skin's surface by silencing pattern recognition receptors.
Liu Y et al.·Immunity
2024
The GRHL3-regulated long non-coding RNA lnc-DC modulates keratinocytes differentiation by interacting with IGF2BP2 and up-regulating ZNF750.
Hu XT et al.·J Dermatol Sci
2024
ZNF750 Regulates Skin Barrier Function by Driving Cornified Envelope and Lipid Processing Pathways.
Schwartz B et al.·J Invest Dermatol
2024
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
NMR structure verifies the eponymous zinc finger domain of transcription factor ZNF750
Rua AJ et al.·J Struct Biol X
2023
NMR structure verifies the eponymous zinc finger domain of transcription factor ZNF750.
Rua AJ et al.·J Struct Biol
2023
Resveratrol suppresses malignant progression of oral squamous cell carcinoma cells by inducing the ZNF750/RAC1 signaling pathway
Xiao Y et al.·Bioengineered
2021
TRIM29 hypermethylation drives esophageal cancer progression via suppression of ZNF750
Yi Q et al.·Cell Death Discov
2023
ZNF750 exerted its Antitumor Action in Oral Squamous Cell Carcinoma by regulating E2F2
Yang HL et al.·J Cancer
2021
Top 6 full-text resultsSearch PubTator3 ↗
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools