ZNF513: Zinc Finger Protein 513
A Krüppel-associated box (KRAB) domain-containing zinc finger transcription factor involved in retinal development and potential tumor suppression.
Gene Information Card
| Symbol | ZNF513 |
|---|---|
| Full Name | Zinc Finger Protein 513 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 130557 ncbi.nlm.nih.gov/gene/130557 |
| Ensembl ID | ENSG00000162998 |
| UniProt ID | Q8N8E2 |
| OMIM ID | 613598 |
| HGNC ID | 24827 |
| Aliases | FLJ12787, MGC14836, RP58 |
Description
ZNF513 encodes a zinc finger protein of the Krüppel-associated box (KRAB) family, which functions as a transcriptional repressor. The protein contains an N-terminal KRAB domain and multiple C2H2-type zinc finger motifs. ZNF513 is highly expressed in the retina and is essential for photoreceptor cell survival. Mutations in ZNF513 cause autosomal recessive retinitis pigmentosa (RP58), a progressive retinal degeneration disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa 58 (RP58) | Loss-of-function mutations in ZNF513 disrupt transcriptional repression of target genes, leading to photoreceptor apoptosis. | OMIM #613598; PMID: 20673862 |
| Retinitis pigmentosa (general) | ZNF513 mutations impair retinal development and maintenance, causing progressive vision loss. | ClinVar; PMID: 20673862 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Testis | 6.8 | Medium |
| Brain (cerebellum) | 4.2 | Medium |
| Thyroid | 3.1 | Low |
| Heart | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 8.9 | High expression |
| HeLa | 2.3 | Low expression |
| HEK293 | 1.8 | Low expression |
| SH-SY5Y | 3.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense/Start loss | Rare | Loss of protein translation; associated with RP58 |
| c.649C>T (p.Arg217*) | Nonsense | Rare | Premature truncation; loss of zinc finger domains |
| c.1042C>T (p.Arg348Trp) | Missense | Rare | Altered DNA binding; reduced transcriptional repression |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations (e.g., p.Met1?, p.Arg217*) lead to loss of ZNF513 function, causing retinitis pigmentosa via haploinsufficiency or complete loss of repressor activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations in ZNF513.
Dominant Negative (DN)
No evidence of dominant-negative effects; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Retinol metabolism (Reactome: R-HSA-2187338)
• Transcriptional regulation by KRAB zinc finger proteins (Reactome: R-HSA-212436)
Protein Summary
ZNF513 is a 548-amino acid nuclear protein containing a KRAB domain at the N-terminus and 11 C2H2-type zinc finger motifs. It acts as a transcriptional repressor by recruiting chromatin-modifying complexes (e.g., SETDB1, TRIM28) to target gene promoters. In the retina, ZNF513 regulates genes critical for photoreceptor function and survival. Loss of ZNF513 function leads to retinitis pigmentosa, characterized by rod-cone dystrophy and progressive vision loss.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF513 Knockout HEK293 Cell Line | EDJ-KQ9244 | Human | 130557 | Details Get a Quote |
| ZNF513 Knockout A-549 Cell Line | EDJ-KQ35836 | Human | 130557 | Details Get a Quote |
| ZNF513 Knockout HCT 116 Cell Line | EDJ-KQ35837 | Human | 130557 | Details Get a Quote |
| ZNF513 Knockout HeLa Cell Line | EDJ-KQ35838 | Human | 130557 | Details Get a Quote |
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