ZNF12: Zinc Finger Protein 12 - Transcriptional Regulator and Disease Associations
Comprehensive genomic and proteomic overview of ZNF12, a KRAB-ZNF transcription factor involved in development and cancer.
Gene Information Card
| Symbol | ZNF12 |
|---|---|
| Full Name | Zinc Finger Protein 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p22.1 |
| NCBI Gene ID | 7559 ncbi.nlm.nih.gov/gene/7559 |
| Ensembl ID | ENSG00000105974 |
| UniProt ID | P17014 |
| OMIM ID | 194538 |
| HGNC ID | 12910 |
| Aliases | KOX3, ZNF12A, ZNF12B, FLJ32115 |
Description
ZNF12 (Zinc Finger Protein 12) is a protein-coding gene that encodes a member of the Krüppel-associated box (KRAB) domain-containing zinc finger protein family. This transcription factor is involved in regulating gene expression during development and cellular differentiation. ZNF12 is located on chromosome 7p22.1 and is expressed in multiple tissues. Alterations in ZNF12 expression and mutations have been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | ZNF12 overexpression may promote cell proliferation through transcriptional regulation of target genes. | COSMIC; PMID: 25691885 |
| Colorectal cancer | ZNF12 mutations and altered expression observed in tumor samples; potential role in tumorigenesis. | COSMIC; PMID: 26619011 |
| Developmental disorders | Rare variants in ZNF12 associated with intellectual disability and congenital anomalies. | ClinVar; PMID: 28135719 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cell line |
| HeLa | 8.9 | Cervical cancer cell line |
| K562 | 7.4 | Leukemia cell line |
| MCF7 | 6.8 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown; reported in ClinVar as variant of uncertain significance |
| c.245G>A (p.Arg82Gln) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.523_524del (p.Gln175fs) | Frameshift | <0.01% | Loss of function; associated with developmental disorder |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Gln175fs) are predicted to cause loss of function by truncating the protein and disrupting zinc finger domains.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in ZNF12.
Dominant Negative (DN)
No evidence for dominant-negative effects in ZNF12.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity (GO:0003700) | • zinc ion binding (GO:0008270) |
| • regulation of transcription by RNA polymerase II (GO:0006357) | • nucleus (GO:0005634) |
Pathways
• KRAB-ZNF transcriptional repression pathway
• Gene expression (Transcription)
Protein Summary
ZNF12 encodes a 544-amino acid protein containing a KRAB domain at the N-terminus and multiple C2H2-type zinc finger motifs at the C-terminus. The KRAB domain mediates transcriptional repression through recruitment of co-repressors such as KAP1/TRIM28. The zinc fingers are responsible for sequence-specific DNA binding. ZNF12 is predominantly nuclear and is expressed in a wide range of tissues, with highest levels in testis. It plays a role in regulating cell proliferation and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF12 Knockout HEK293 Cell Line | EDJ-KQ6033 | Human | 7559 | Details Get a Quote |
| ZNF124 Knockout HEK293 Cell Line | EDJ-KQ6068 | Human | 7678 | Details Get a Quote |
| ZNF121 Knockout HEK293 Cell Line | EDJ-KQ6071 | Human | 7675 | Details Get a Quote |
| ZNF121 Knockout A-549 Cell Line | EDJ-KQ28472 | Human | 7675 | Details Get a Quote |
| ZNF12 Knockout A-549 Cell Line | EDJ-KQ29667 | Human | 7559 | Details Get a Quote |
| ZNF12 Knockout HCT 116 Cell Line | EDJ-KQ29668 | Human | 7559 | Details Get a Quote |
| ZNF12 Knockout HeLa Cell Line | EDJ-KQ29669 | Human | 7559 | Details Get a Quote |
| ZNF124 Knockout A-549 Cell Line | EDJ-KQ29763 | Human | 7678 | Details Get a Quote |
| ZNF124 Knockout HCT 116 Cell Line | EDJ-KQ29764 | Human | 7678 | Details Get a Quote |
| ZNF124 Knockout HeLa Cell Line | EDJ-KQ29765 | Human | 7678 | Details Get a Quote |
| ZNF121 Knockout HCT 116 Cell Line | EDJ-KQ29769 | Human | 7675 | Details Get a Quote |
| ZNF121 Knockout HeLa Cell Line | EDJ-KQ29770 | Human | 7675 | Details Get a Quote |
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