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.

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 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
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