KLF14: A Key Imprinted Transcription Factor in Metabolic and Cancer Biology
Comprehensive genomic and functional analysis of the Krüppel-like factor 14 gene
Gene Information Card
| Symbol | KLF14 |
|---|---|
| Full Name | Krüppel-like factor 14 |
| Gene Type | Protein-coding |
| Chromosomal Location | 7q32.2 |
| NCBI Gene ID | 136259 ncbi.nlm.nih.gov/gene/136259 |
| Ensembl ID | ENSG00000167748 |
| UniProt ID | Q8TD94 |
| OMIM ID | 609393 |
| HGNC ID | 6347 |
| Aliases | BTEB5, SP6 |
Description
KLF14 (Krüppel-like factor 14) is a maternally expressed imprinted transcription factor belonging to the Krüppel-like factor family. It contains three C2H2-type zinc fingers and regulates the expression of genes involved in metabolism, adipogenesis, and cell proliferation. KLF14 acts as a master regulator of metabolic gene networks and is associated with type 2 diabetes, HDL cholesterol levels, and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 Diabetes | KLF14 variants influence insulin sensitivity and glucose homeostasis through trans-regulation of metabolic genes. | GWAS (PMID: 21909109) |
| Metabolic Syndrome | KLF14 expression in adipose tissue correlates with body mass index, lipid profiles, and inflammatory markers. | Expression QTL studies (PMID: 21909109) |
| Breast Cancer | KLF14 acts as a tumor suppressor; loss of imprinting or reduced expression promotes cell proliferation and invasion. | Functional studies (PMID: 25652388) |
| Colorectal Cancer | KLF14 downregulation is associated with poor prognosis and increased Wnt/β-catenin signaling. | Expression analysis (PMID: 27149991) |
| Hepatocellular Carcinoma | KLF14 suppresses tumor growth by inhibiting the PI3K/AKT pathway. | In vitro and in vivo models (PMID: 29367642) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Liver | 8.3 | Low |
| Pancreas | 6.1 | Low |
| Breast | 4.7 | Low |
| Colon | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 5.8 | Hepatocellular carcinoma cell line |
| MCF7 | 4.2 | Breast cancer cell line |
| HT-29 | 3.1 | Colorectal adenocarcinoma cell line |
| 3T3-L1 | 15.0 | Adipocyte precursor (mouse) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs972283 | SNP (intronic) | 0.47 (G allele) | Associated with type 2 diabetes risk |
| rs4731702 | SNP (intergenic) | 0.34 (C allele) | Linked to HDL cholesterol levels |
| c.1A>G | Missense (p.Met1Val) | <0.01 | Loss of start codon; predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense or frameshift mutations that disrupt the zinc finger domain or abolish DNA binding, leading to reduced transcriptional activation of target genes.
Gain of Function (GOF)
Not well documented; overexpression in certain cancers may promote oncogenic pathways, but no activating mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations described; as an imprinted gene, monoallelic expression may mask dominant effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Adipogenesis (regulation of PPARG and CEBPA)
• Insulin signaling (trans-regulation of metabolic genes)
• Wnt/β-catenin signaling (repression in colorectal cancer)
Protein Summary
KLF14 is a 323-amino acid protein with three C-terminal C2H2 zinc fingers that mediate sequence-specific DNA binding. It localizes to the nucleus and functions as a transcriptional activator or repressor depending on context. The protein is highly conserved in mammals and is subject to genomic imprinting, with expression exclusively from the maternal allele. Post-translational modifications include phosphorylation, which may modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLF14 Knockout HEK293 Cell Line | EDJ-KQ13948 | Human | 136259 | Details Get a Quote |
| KLF14 Knockout BEL-7402 Cell Line | EDJ-KZ31 | Human | 136259 | Details Get a Quote |
| KLF14 Knockout HeLa Cell Line | EDJ-KQ58363 | Human | 136259 | Details Get a Quote |
| KLF14 Knockout A-549 Cell Line | EDJ-KQ66850 | Human | 136259 | Details Get a Quote |
| KLF14 Knockout HCT 116 Cell Line | EDJ-KQ75255 | Human | 136259 | Details Get a Quote |
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