ZNF2: Zinc Finger Protein 2 - A Krüppel-Type C2H2 Transcription Factor
Comprehensive genomic and proteomic analysis of ZNF2, a member of the Krüppel C2H2 zinc finger protein family involved in transcriptional regulation.
Gene Information Card
| Symbol | ZNF2 |
|---|---|
| Full Name | zinc finger protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 7549 ncbi.nlm.nih.gov/gene/7549 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | Q9BSH5 |
| OMIM ID | 194551 |
| HGNC ID | 13095 |
| Aliases | ZNF2, Zfp-2, ZKSCAN1, ZNF2L1 |
Description
ZNF2 (zinc finger protein 2) is a protein-coding gene located on chromosome 2q11.2. It encodes a Krüppel-type C2H2 zinc finger transcription factor that contains a SCAN domain and a KRAB domain. ZNF2 is involved in transcriptional regulation, potentially repressing or activating target genes. It is expressed in multiple tissues and may play roles in development and cellular differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar | Not established | No pathogenic variants curated in ClinVar as of 2025 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Brain | 5.1 | Low |
| Lung | 4.3 | Low |
| Liver | 3.8 | Low |
| Kidney | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.5 | Moderate expression |
| HeLa | 5.2 | Low expression |
| K562 | 4.8 | Low expression |
| HepG2 | 3.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Trp) | missense | <0.01% in gnomAD | Unknown functional effect |
| c.456G>A (p.Thr152=) | synonymous | 0.02% in gnomAD | No predicted effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in COSMIC or ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity (GO:0003700) | • zinc ion binding (GO:0008270) |
| • nucleus (GO:0005634) | • regulation of transcription by RNA polymerase II (GO:0006357) |
Pathways
• No specific pathway annotations in Reactome or KEGG for ZNF2.
Protein Summary
ZNF2 encodes a 532-amino acid protein (UniProt Q9BSH5) containing multiple C2H2-type zinc finger domains, a SCAN domain, and a KRAB domain. The protein localizes to the nucleus and functions as a transcription factor. Its precise biological roles remain under investigation, but it is thought to regulate gene expression during development and in adult tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF260 Knockout HEK293 Cell Line | EDJ-KQ3447 | Human | 339324 | Details Get a Quote |
| ZNF22 Knockout HEK293 Cell Line | EDJ-KQ5315 | Human | 7570 | Details Get a Quote |
| ZNF229 Knockout HEK293 Cell Line | EDJ-KQ5404 | Human | 7772 | Details Get a Quote |
| ZNF239 Knockout HEK293 Cell Line | EDJ-KQ5481 | Human | 8187 | Details Get a Quote |
| ZNF23 Knockout HEK293 Cell Line | EDJ-KQ6037 | Human | 7571 | Details Get a Quote |
| ZNF24 Knockout HEK293 Cell Line | EDJ-KQ6038 | Human | 7572 | Details Get a Quote |
| ZNF20 Knockout HEK293 Cell Line | EDJ-KQ6039 | Human | 7568 | Details Get a Quote |
| ZNF26 Knockout HEK293 Cell Line | EDJ-KQ6040 | Human | 7574 | Details Get a Quote |
| ZNF221 Knockout HEK293 Cell Line | EDJ-KQ6061 | Human | 7638 | Details Get a Quote |
| ZNF222 Knockout HEK293 Cell Line | EDJ-KQ6069 | Human | 7673 | Details Get a Quote |
| ZNF200 Knockout HEK293 Cell Line | EDJ-KQ6098 | Human | 7752 | Details Get a Quote |
| ZNF202 Knockout HEK293 Cell Line | EDJ-KQ6102 | Human | 7753 | Details Get a Quote |
| ZNF213 Knockout HEK293 Cell Line | EDJ-KQ6104 | Human | 7760 | Details Get a Quote |
| ZNF214 Knockout HEK293 Cell Line | EDJ-KQ6106 | Human | 7761 | Details Get a Quote |
| ZNF223 Knockout HEK293 Cell Line | EDJ-KQ6107 | Human | 7766 | Details Get a Quote |
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