KLF9: A Key Transcriptional Regulator in Development and Disease
Comprehensive genomic and functional analysis of Kruppel-like factor 9
Gene Information Card
| Symbol | KLF9 |
|---|---|
| Full Name | Kruppel-like factor 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q21.13 |
| NCBI Gene ID | 687 ncbi.nlm.nih.gov/gene/687 |
| Ensembl ID | ENSG00000119138 |
| UniProt ID | Q13886 |
| OMIM ID | 602902 |
| HGNC ID | 6346 |
| Aliases | BTEB1, BTEB, BTE-binding protein 1 |
Description
KLF9 (Kruppel-like factor 9) is a member of the Kruppel-like factor (KLF) family of transcription factors, characterized by three C-terminal C2H2 zinc finger domains. It binds to GC-rich sequences in gene promoters and regulates transcription of genes involved in cell cycle, differentiation, and apoptosis. KLF9 is widely expressed and plays critical roles in neural development, adipogenesis, and tumor suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | KLF9 downregulation promotes tumor growth and metastasis via loss of transcriptional repression of oncogenes | PMID: 25605247 |
| Endometrial Cancer | KLF9 acts as a tumor suppressor by inhibiting estrogen receptor signaling and cell proliferation | PMID: 21804532 |
| Neuroblastoma | KLF9 expression is reduced and correlates with poor prognosis; re-expression induces differentiation | PMID: 23334671 |
| Obesity | KLF9 regulates adipocyte differentiation and lipid metabolism through PPARγ pathway modulation | PMID: 20068046 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Adipose tissue | 15.2 | Medium |
| Colon | 6.1 | Low |
| Endometrium | 18.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.4 | Embryonic kidney cells |
| SH-SY5Y | 22.1 | Neuroblastoma cell line |
| HCT116 | 5.8 | Colorectal carcinoma cells |
| MCF7 | 14.3 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Reduced DNA-binding affinity |
| c.632delG (p.Gly211Valfs*12) | Frameshift | <0.01% | Loss of function |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations lead to truncated or absent protein, impairing transcriptional regulation.
Gain of Function (GOF)
No gain-of-function mutations reported in KLF9.
Dominant Negative (DN)
Missense mutations in the zinc finger domain may produce proteins that interfere with wild-type KLF9 function.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • regulation of transcription by RNA polymerase II | • negative regulation of cell population proliferation |
| • positive regulation of neuron differentiation |
Pathways
• Transcriptional regulation by KLF9
• PPAR signaling pathway
• p53 signaling pathway
Protein Summary
KLF9 is a 244-amino acid protein containing three C2H2 zinc fingers at the C-terminus that mediate sequence-specific DNA binding. It functions as a transcriptional repressor or activator depending on context, interacting with co-repressors such as Sin3A and HDACs. KLF9 is involved in cell cycle arrest, apoptosis, and differentiation, particularly in neural and adipose tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLF9 Knockout HEK293 Cell Line | EDJ-KQ3583 | Human | 687 | Details Get a Quote |
| KLF9 Knockout A-549 Cell Line | EDJ-KQ25477 | Human | 687 | Details Get a Quote |
| KLF9 Knockout HCT 116 Cell Line | EDJ-KQ25478 | Human | 687 | Details Get a Quote |
| KLF9 Knockout HeLa Cell Line | EDJ-KQ25479 | Human | 687 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
