ZNF219: Zinc Finger Protein 219 – Transcriptional Regulator in Development and Disease
Comprehensive gene card for ZNF219, a Krüppel-associated box (KRAB) zinc finger protein involved in neurogenesis, craniofacial development, and cancer.
Gene Information Card
| Symbol | ZNF219 |
|---|---|
| Full Name | zinc finger protein 219 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 51222 ncbi.nlm.nih.gov/gene/51222 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q9P2Y4 |
| OMIM ID | 605036 |
| HGNC ID | 13073 |
| Aliases | ZNF219, Zfp219, MGC138290 |
Description
ZNF219 (zinc finger protein 219) is a protein-coding gene located on chromosome 14q11.2. It belongs to the Krüppel-associated box (KRAB) zinc finger protein family, which functions as transcriptional repressors. ZNF219 is involved in regulating gene expression during neurogenesis, craniofacial development, and has been implicated in various cancers. The protein contains multiple C2H2-type zinc finger domains that mediate DNA binding and a KRAB domain that recruits co-repressors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Craniofacial abnormalities | ZNF219 regulates genes involved in neural crest cell migration and craniofacial morphogenesis; loss-of-function variants may disrupt development. | OMIM #605036; PMID: 23453667 |
| Neurodevelopmental disorders | ZNF219 expression in the developing brain influences neuronal differentiation; variants associated with intellectual disability. | ClinVar; PMID: 27535533 |
| Breast cancer | ZNF219 overexpression correlates with poor prognosis; may promote proliferation via transcriptional repression of tumor suppressors. | COSMIC; PMID: 29367642 |
| Colorectal cancer | ZNF219 upregulation linked to metastasis and epithelial-mesenchymal transition (EMT). | COSMIC; PMID: 31065109 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Thyroid | 6.1 | Low |
| Lung | 4.7 | Not detected |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression; used in neurogenesis studies |
| MCF7 (breast cancer) | 9.8 | Moderate; associated with proliferation |
| HEK293 (embryonic kidney) | 7.4 | Basal expression |
| HCT116 (colorectal cancer) | 11.3 | Elevated; linked to EMT |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Alters zinc finger domain; potential loss of DNA binding |
| c.1022G>A (p.Arg341Gln) | Missense | <0.01% | Located in KRAB domain; may impair repression |
| c.1345_1347del (p.Lys449del) | In-frame deletion | <0.01% | Deletion in linker region; unknown effect |
Mutation functional classification
Loss of Function (LOF)
Missense variants in zinc finger domains (e.g., p.Arg163Trp) likely disrupt DNA binding and transcriptional repression.
Gain of Function (GOF)
Not well-documented; overexpression in cancer may represent a gain-of-function phenotype.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003677 – DNA binding | • GO:0000978 – RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • GO:0003714 – transcription corepressor activity | • GO:0005634 – nucleus |
| • GO:0006357 – regulation of transcription by RNA polymerase II | • GO:0045944 – positive regulation of transcription by RNA polymerase II |
| • GO:0007275 – multicellular organism development | • GO:0022008 – neurogenesis |
Pathways
• KEGG hsa05200: Pathways in cancer
• Reactome R-HSA-212436: Generic transcription pathway
• Reactome R-HSA-9006931: Signaling by nuclear receptors
Protein Summary
ZNF219 is a 707-amino acid protein containing an N-terminal KRAB domain and 12 C2H2-type zinc finger motifs. It localizes to the nucleus and functions as a transcriptional repressor by recruiting co-repressors such as KAP1/TRIM28. ZNF219 plays roles in neurogenesis, craniofacial development, and cancer progression. Its expression is enriched in brain and testis, and alterations are linked to developmental disorders and malignancies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF219 Knockout HEK293 Cell Line | EDJ-KQ10979 | Human | 51222 | Details Get a Quote |
| ZNF219 Knockout HCT 116 Cell Line | EDJ-KQ37508 | Human | 51222 | Details Get a Quote |
| ZNF219 Knockout A-549 Cell Line | EDJ-KQ38808 | Human | 51222 | Details Get a Quote |
| ZNF219 Knockout HeLa Cell Line | EDJ-KQ38810 | Human | 51222 | Details Get a Quote |
| ZNF219 Knockout U2OS Cell Line | EDC07764 | Human | 51222 | Details Get a Quote |
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