ZGRF1 Gene
Zinc Finger GRF-Type Containing 1
Gene Information Card
| Symbol | ZGRF1 |
|---|---|
| Full Name | Zinc Finger GRF-Type Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q25 |
| NCBI Gene ID | 221731 ncbi.nlm.nih.gov/gene/221731 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q86YA3 |
| OMIM ID | 617607 |
| HGNC ID | 26150 |
| Aliases | C4orf21, FLJ20397, MGC138290 |
Description
ZGRF1 encodes a protein containing a GRF-type zinc finger domain, which is involved in DNA repair and genome stability. The protein is thought to participate in homologous recombination and DNA damage response pathways. ZGRF1 is expressed in various tissues and has been implicated in cancer susceptibility and progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered DNA repair capacity; ZGRF1 variants may affect homologous recombination efficiency | COSMIC; ClinVar |
| Ovarian cancer | Potential role in genomic instability; expression changes observed in tumor samples | COSMIC; NCBI Gene |
| Colorectal cancer | Somatic mutations identified; possible impact on DNA damage response | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Bone marrow | 8.7 | Low |
| Lymph node | 6.5 | Low |
| Brain | 4.2 | Low |
| Liver | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Embryonic kidney cells |
| HeLa | 7.4 | Cervical cancer cells |
| K562 | 6.1 | Leukemia cells |
| MCF7 | 5.3 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | 0.01% (gnomAD) | Loss of function; predicted protein truncation |
| c.2567A>G (p.Asn856Ser) | Missense | 0.05% (gnomAD) | Unknown; possibly benign |
| c.3456_3457insA (p.Glu1153fs) | Frameshift | 0.002% (COSMIC) | Loss of function; frameshift leading to premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, impairing DNA repair function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • zinc ion binding |
| • nucleus | • homologous recombination |
| • DNA damage response |
Pathways
• Homologous recombination
• DNA double-strand break repair
Protein Summary
ZGRF1 is a 1,200-amino acid protein containing a GRF-type zinc finger domain. It localizes to the nucleus and is involved in DNA repair, particularly homologous recombination. The protein interacts with other repair factors and is essential for maintaining genomic stability. Expression is highest in testis and bone marrow, with lower levels in other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZGRF1 Knockout HEK293 Cell Line | EDJ-KQ2407 | Human | 55345 | Details Get a Quote |
| ZGRF1 Knockout A-549 Cell Line | EDJ-KQ24273 | Human | 55345 | Details Get a Quote |
| ZGRF1 Knockout HCT 116 Cell Line | EDJ-KQ24275 | Human | 55345 | Details Get a Quote |
| ZGRF1 Knockout HeLa Cell Line | EDJ-KQ24276 | Human | 55345 | Details Get a Quote |
