ZNF750 Zinc Finger Protein 750
Epithelial differentiation regulator and tumor suppressor in squamous cell carcinoma
Gene Information Card
| Symbol | ZNF750 |
|---|---|
| Full Name | Zinc Finger Protein 750 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 79755 ncbi.nlm.nih.gov/gene/79755 |
| Ensembl ID | ENSG00000141579 |
| UniProt ID | Q8NCB5 |
| OMIM ID | 610226 |
| HGNC ID | 25837 |
| Aliases | FLJ11273, ZNF750 |
Description
ZNF750 encodes a zinc finger transcription factor that plays a critical role in epithelial differentiation, particularly in keratinocytes. It regulates the expression of genes involved in epidermal development, cell adhesion, and terminal differentiation. Loss-of-function mutations in ZNF750 are associated with seborrhea-like dermatitis and psoriasis, and somatic mutations are frequently found in squamous cell carcinoma of the skin, head and neck, and lung, suggesting a tumor suppressor function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Squamous cell carcinoma (skin, head and neck, lung) | Somatic loss-of-function mutations impair differentiation and promote proliferation | COSMIC, ClinVar |
| Seborrhea-like dermatitis with psoriasis | Germline missense mutations disrupt transcriptional activity | OMIM #610226 |
| Psoriasis | ZNF750 downregulation alters keratinocyte differentiation | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | High |
| Esophagus | 8.2 | Medium |
| Oral mucosa | 7.9 | Medium |
| Lung | 3.1 | Low |
| Breast | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 15.3 | High expression; differentiation-dependent |
| A431 (epidermoid carcinoma) | 4.2 | Reduced compared to normal keratinocytes |
| SCC-25 (oral squamous cell carcinoma) | 2.1 | Low expression; loss of differentiation |
| NCI-H520 (lung squamous cell carcinoma) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.118C>T (p.Arg40*) | Nonsense | 1.2% in skin SCC | Loss of function; truncated protein |
| c.325G>A (p.Gly109Arg) | Missense | 0.5% in head and neck SCC | Impaired DNA binding |
| c.637C>T (p.Arg213Trp) | Missense | 0.3% in lung SCC | Reduced transcriptional activity |
| c.1A>G (p.Met1?) | Start loss | <0.1% | No protein expression |
Mutation functional classification
Loss of Function (LOF)
Frequent nonsense, frameshift, and missense mutations in squamous cell carcinomas that truncate or destabilize the protein, leading to loss of transcriptional activation of differentiation genes.
Gain of Function (GOF)
Not reported; no activating mutations have been described.
Dominant Negative (DN)
Some missense mutants (e.g., p.Arg213Trp) may interfere with wild-type ZNF750 function in heterozygous state, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Epithelial differentiation (REACTOME R-HSA-1266738)
• Keratinization (REACTOME R-HSA-6805567)
• p53-independent DNA damage response (PMID: 25329316)
Protein Summary
ZNF750 is a 723-amino acid nuclear zinc finger protein that functions as a transcription factor. It contains two C2H2-type zinc finger domains that mediate sequence-specific DNA binding. ZNF750 activates genes required for terminal differentiation of keratinocytes, such as loricrin, involucrin, and filaggrin, while repressing proliferation-associated genes. Its expression is induced during keratinocyte differentiation and is frequently lost in squamous cell carcinomas, contributing to dedifferentiation and tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF750 Knockout HEK293 Cell Line | EDJ-KQ17607 | Human | 79755 | Details Get a Quote |
| ZNF750 Knockout KYSE-30 Cell Line | EDJ-KZ98 | Human | 79755 | Details Get a Quote |
| ZNF750 Knockout HeLa Cell Line | EDJ-KQ57220 | Human | 79755 | Details Get a Quote |
| ZNF750 Knockout A-549 Cell Line | EDJ-KQ65735 | Human | 79755 | Details Get a Quote |
| ZNF750 Knockout HCT 116 Cell Line | EDJ-KQ74152 | Human | 79755 | Details Get a Quote |
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