ZNF597
Zinc Finger Protein 597: A C2H2-Type Transcription Factor with Potential Roles in Development and Disease
Gene Information Card
| Symbol | ZNF597 |
|---|---|
| Full Name | zinc finger protein 597 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 146434 ncbi.nlm.nih.gov/gene/146434 |
| Ensembl ID | ENSG00000167996 |
| UniProt ID | Q96LX8 |
| OMIM ID | 614911 |
| HGNC ID | 26042 |
| Aliases | FLJ25333, MGC131851 |
Description
ZNF597 encodes a zinc finger protein of the C2H2-type family, characterized by multiple zinc finger domains that mediate sequence-specific DNA binding. It is predicted to function as a transcription factor involved in the regulation of gene expression, potentially influencing developmental processes and cellular differentiation. The gene is located on chromosome 16p13.3, a region associated with several genetic disorders. Expression data suggest broad but variable tissue distribution, with highest levels in the brain and testis. Limited functional studies indicate possible roles in neurodevelopment and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability (candidate) | Potential loss-of-function variants may disrupt transcriptional regulation of target genes involved in neuronal development. | ClinVar: reported missense and nonsense variants in individuals with neurodevelopmental phenotypes. |
| Autism spectrum disorder (candidate) | Rare de novo variants identified in ASD cohorts; mechanism unclear but may involve altered synaptic gene expression. | ClinVar: single variant submissions; limited replication. |
| Cancer (general) | Altered ZNF597 expression observed in some tumor types; possible tumor suppressor or oncogene role depending on context. | COSMIC: somatic mutations (missense, silent) in various cancers; low frequency. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cortex) | 5.2 | Low |
| Testis | 4.8 | Low |
| Thyroid | 3.1 | Low |
| Lung | 2.5 | Low |
| Liver | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 3.0 | Embryonic kidney; moderate expression |
| SH-SY5Y | 4.5 | Neuroblastoma; higher expression |
| HeLa | 2.1 | Cervical carcinoma; low expression |
| K562 | 1.5 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | <0.01% | Premature truncation; likely loss-of-function |
| c.832G>A (p.Gly278Arg) | Missense | <0.01% | Unknown; predicted damaging by SIFT/PolyPhen |
| c.1234A>G (p.Thr412Ala) | Missense | <0.01% | Unknown; benign prediction |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein lacking zinc finger domains are predicted to cause loss of DNA-binding and transcriptional activity.
Gain of Function (GOF)
No evidence for gain-of-function mutations in ZNF597.
Dominant Negative (DN)
No evidence for dominant-negative effects; heterozygous missense variants may act through haploinsufficiency or altered target specificity.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • zinc ion binding |
| • nucleus | • regulation of transcription by RNA polymerase II |
| • metal ion binding |
Protein Summary
ZNF597 is a 597-amino acid protein containing 12 C2H2-type zinc finger domains, characteristic of transcription factors that bind GC-rich DNA sequences. It localizes to the nucleus and is thought to regulate gene expression, though specific target genes remain largely unknown. Structural predictions indicate a highly conserved N-terminal region and variable linker sequences between zinc fingers. Post-translational modifications such as phosphorylation may modulate its activity. The protein shares homology with other Krüppel-associated box (KRAB) domain-containing zinc finger proteins, but lacks a KRAB domain itself, suggesting a distinct regulatory mechanism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF597 Knockout HEK293 Cell Line | EDJ-KQ10478 | Human | 146434 | Details Get a Quote |
| ZNF597 Knockout A-549 Cell Line | EDJ-KQ37872 | Human | 146434 | Details Get a Quote |
| ZNF597 Knockout HCT 116 Cell Line | EDJ-KQ37873 | Human | 146434 | Details Get a Quote |
| ZNF597 Knockout HeLa Cell Line | EDJ-KQ37874 | Human | 146434 | Details Get a Quote |
