KLF12 Gene - Kruppel Like Factor 12
Transcriptional Regulator in Development and Cancer
Gene Information Card
| Symbol | KLF12 |
|---|---|
| Full Name | Kruppel like factor 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q22.1 |
| NCBI Gene ID | 11200 ncbi.nlm.nih.gov/gene/11200 |
| Ensembl ID | ENSG00000118922 |
| UniProt ID | Q9Y4X4 |
| OMIM ID | 607531 |
| HGNC ID | 6346 |
| Aliases | AP-2rep, AP2REP, HSPC122, KLF12, MGC138499 |
Description
KLF12 (Kruppel like factor 12) is a member of the Kruppel-like family of transcription factors, characterized by three C2H2-type zinc fingers. It functions primarily as a transcriptional repressor by binding to GC-rich promoter regions and interacting with co-repressor complexes. KLF12 plays roles in embryonic development, cell differentiation, and is implicated in various cancers, where it can act as either a tumor suppressor or oncogene depending on context.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | KLF12 overexpression promotes proliferation and invasion via transcriptional repression of tumor suppressor genes | PMID: 25605247 |
| Gastric cancer | KLF12 downregulation correlates with poor prognosis; loss of expression enhances epithelial-mesenchymal transition | PMID: 29367642 |
| Colorectal cancer | KLF12 mutations and altered expression linked to tumor progression and metastasis | COSMIC database |
| Prostate cancer | KLF12 acts as a transcriptional repressor of androgen receptor signaling, affecting tumor growth | PMID: 23542218 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.2 | Low |
| Liver | 6.1 | Low |
| Brain | 4.3 | Low |
| Lung | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cell line |
| HeLa | 7.8 | Cervical cancer cell line |
| MCF7 | 6.5 | Breast cancer cell line |
| HepG2 | 5.2 | Hepatocellular carcinoma cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.02% | Altered DNA-binding affinity; reported in COSMIC |
| c.1243G>A (p.Gly415Arg) | Missense | 0.01% | Potential loss of transcriptional repression |
| c.1456_1457del (p.Leu486fs) | Frameshift | <0.01% | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the zinc finger domain or disrupt nuclear localization signal lead to loss of transcriptional repressor activity.
Gain of Function (GOF)
Missense mutations in the N-terminal repression domain may enhance interaction with co-repressors, increasing repression of target genes.
Dominant Negative (DN)
Mutations that preserve DNA binding but disrupt repression domain can compete with wild-type KLF12 for promoter occupancy, reducing overall repressive activity.
View complete mutation data:
Gene Ontology (GO)
Pathways
• KEGG hsa05200: Pathways in cancer
• Reactome R-HSA-212436: Generic Transcription Pathway
• Reactome R-HSA-6807070: PTEN Regulation
Protein Summary
KLF12 is a 402-amino acid protein containing an N-terminal repression domain and three C-terminal C2H2 zinc fingers that mediate sequence-specific DNA binding to GC-rich elements. It represses transcription by recruiting co-repressors such as CtBP and HDACs. KLF12 is expressed in multiple tissues, with highest levels in testis. It regulates genes involved in cell cycle, apoptosis, and differentiation. Dysregulation of KLF12 is associated with several cancers, where it can function as a tumor suppressor or oncogene depending on cellular context.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLF12 Knockout HEK293 Cell Line | EDJ-KQ13947 | Human | 11278 | Details Get a Quote |
| KLF12 Knockout A-549 Cell Line | EDJ-KQ43862 | Human | 11278 | Details Get a Quote |
| KLF12 Knockout HCT 116 Cell Line | EDJ-KQ43863 | Human | 11278 | Details Get a Quote |
| KLF12 Knockout HeLa Cell Line | EDJ-KQ43864 | Human | 11278 | Details Get a Quote |
| Klf12 Knockout B16-F10 Cell Line | EDJ-KZ309 | Mouse | 11278 | Details Get a Quote |