KLF7: Krüppel-like Factor 7 – Transcriptional Regulator in Neurodevelopment and Metabolism
Comprehensive genomic and functional annotation of KLF7, a zinc-finger transcription factor implicated in neurological disorders, adipogenesis, and cancer.
Gene Information Card
| Symbol | KLF7 |
|---|---|
| Full Name | Krüppel-like factor 7 (ubiquitous) |
| Gene Type | protein-coding |
| Chromosomal Location | 2q33.3 |
| NCBI Gene ID | 8609 ncbi.nlm.nih.gov/gene/8609 |
| Ensembl ID | ENSG00000118263 |
| UniProt ID | O75895 |
| OMIM ID | 604865 |
| HGNC ID | 6350 |
| Aliases | UKLF, FLJ30611 |
Description
KLF7 (Krüppel-like factor 7) encodes a member of the Krüppel-like family of zinc-finger transcription factors. The protein contains three C2H2-type zinc fingers at the C-terminus and a transactivation domain at the N-terminus. KLF7 is ubiquitously expressed, with highest levels in skeletal muscle, adipose tissue, and brain. It regulates genes involved in cell cycle, differentiation, and metabolism, particularly in neurons and adipocytes. KLF7 has been associated with type 2 diabetes, obesity, neurodevelopmental disorders, and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 Diabetes | KLF7 variants affect insulin sensitivity and adipokine expression | PMID: 19096309; GWAS catalog |
| Obesity | KLF7 regulates adipogenesis and lipid metabolism | PMID: 20534734 |
| Neurodevelopmental Disorders | KLF7 promotes neuronal differentiation and axon growth; dysregulation linked to intellectual disability | PMID: 23545418 |
| Colorectal Cancer | KLF7 overexpression promotes tumor growth and metastasis | PMID: 28708995 |
| Breast Cancer | KLF7 acts as an oncogene by regulating cell proliferation | PMID: 31073040 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 12.5 | Medium |
| Adipose Tissue | 10.8 | Medium |
| Brain (cortex) | 8.3 | Low |
| Heart | 7.1 | Low |
| Liver | 4.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| HepG2 | 6.8 | Hepatocellular carcinoma |
| SH-SY5Y | 22.1 | Neuroblastoma; high expression |
| 3T3-L1 | 18.5 | Adipocyte precursor; upregulated during differentiation |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1018C>T (p.Arg340Cys) | Missense | 0.01% (gnomAD) | Alters DNA-binding affinity; associated with metabolic traits |
| c.1246G>A (p.Gly416Ser) | Missense | 0.005% | Reduces transcriptional activity; linked to obesity |
| c.1450_1451insA (p.Thr484Asnfs*12) | Frameshift | Rare | Loss of function; reported in neurodevelopmental delay |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Thr484Asnfs*12) lead to truncated protein lacking zinc fingers, impairing DNA binding and transcriptional activation.
Gain of Function (GOF)
Missense variants in the transactivation domain (e.g., p.Ser95Leu) may enhance coactivator recruitment, increasing target gene expression in cancer.
Dominant Negative (DN)
Missense mutations in the zinc-finger region (e.g., p.Arg340Cys) can produce a protein that binds DNA but fails to activate transcription, interfering with wild-type KLF7 function.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Adipogenesis – regulation of PPARG and CEBPA
• Neurotrophin signaling – KLF7 promotes NGF-induced neurite outgrowth
• Cell cycle – KLF7 modulates CDKN1A (p21) expression
• MAPK signaling – KLF7 is phosphorylated by ERK1/2
Protein Summary
KLF7 is a 302-amino acid transcription factor with three C-terminal C2H2 zinc fingers that mediate sequence-specific DNA binding to GC-rich elements. The N-terminal domain contains a transactivation region rich in proline and serine residues. KLF7 is ubiquitously expressed and shuttles between cytoplasm and nucleus. It regulates genes involved in cell cycle arrest, differentiation, and metabolism. Post-translational modifications include phosphorylation and acetylation, which modulate its activity. Structural studies show that the zinc-finger domain adopts a canonical ββα fold.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLF7 Knockout HEK293 Cell Line | EDJ-KQ13946 | Human | 8609 | Details Get a Quote |
| KLF7 Knockout HeLa Cell Line | EDJ-KQ18066 | Human | 8609 | Details Get a Quote |
| KLF7 Knockout A-549 Cell Line | EDJ-KQ42584 | Human | 8609 | Details Get a Quote |
| KLF7 Knockout HCT 116 Cell Line | EDJ-KQ43861 | Human | 8609 | Details Get a Quote |