ZNF713
Zinc Finger Protein 713: A KRAB-ZFP Transcriptional Regulator
Gene Information Card
| Symbol | ZNF713 |
|---|---|
| Full Name | zinc finger protein 713 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p22.1 |
| NCBI Gene ID | 349075 ncbi.nlm.nih.gov/gene/349075 |
| Ensembl ID | ENSG00000178297 |
| UniProt ID | Q8N8E3 |
| OMIM ID | 618534 |
| HGNC ID | 27010 |
| Aliases | FLJ32709, MGC35169 |
Description
ZNF713 encodes a zinc finger protein of the Krüppel-associated box (KRAB) domain-containing family. KRAB-ZFPs are transcriptional repressors that recruit chromatin-modifying complexes to silence gene expression. ZNF713 is located on chromosome 7p22.1 and is expressed in multiple tissues. Its precise biological roles are under investigation, but it is implicated in transcriptional regulation and may be involved in neurodevelopmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability (suspected) | Potential loss of transcriptional repression leading to dysregulation of target genes | Limited evidence; rare variant association studies (ClinVar) |
| Autism spectrum disorder (suggested) | Altered ZNF713 expression may affect neuronal gene networks | Case-control studies; not yet replicated in large cohorts |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 5.2 | Medium |
| Testis | 3.8 | Low |
| Lung | 2.1 | Low |
| Liver | 1.5 | Not detected |
| Kidney | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Moderate expression (RNA-seq) |
| SH-SY5Y | 6.1 | Neuronal cell line; higher expression |
| HeLa | 2.3 | Low expression |
| K562 | 1.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Ter) | Nonsense | Rare (gnomAD <0.01%) | Premature truncation; likely loss of function |
| c.1456G>A (p.Gly486Arg) | Missense | Rare | Unknown significance; predicted damaging (SIFT) |
| c.78_79insA (p.Glu27ArgfsTer12) | Frameshift | Unique | Loss of function; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants (e.g., p.Arg375Ter, p.Glu27ArgfsTer12) are predicted to cause loss of ZNF713 protein function via nonsense-mediated decay or truncation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ZNF713.
Dominant Negative (DN)
No dominant-negative mechanisms have been described for ZNF713.
View complete mutation data：
Gene Ontology (GO)
Pathways
• No specific curated pathways; predicted involvement in KRAB-ZFP mediated repression via SETDB1/TRIM28
Protein Summary
ZNF713 is a 486-amino acid protein containing a KRAB domain at the N-terminus and multiple C2H2-type zinc finger motifs. It localizes to the nucleus and functions as a transcriptional repressor by recruiting the TRIM28/SETDB1 complex to promote H3K9me3 histone methylation. Expression is enriched in brain and testis. Loss-of-function variants are rare and may contribute to neurodevelopmental phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF713 Knockout HEK293 Cell Line | EDJ-KQ15603 | Human | 349075 | Details Get a Quote |
| ZNF713 Knockout A-549 Cell Line | EDJ-KQ49937 | Human | 349075 | Details Get a Quote |
| ZNF713 Knockout HCT 116 Cell Line | EDJ-KQ49938 | Human | 349075 | Details Get a Quote |
| ZNF713 Knockout HeLa Cell Line | EDJ-KQ49939 | Human | 349075 | Details Get a Quote |
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