PRDM12: PR/SET Domain 12
Key regulator of sensory neuron development and pain perception
Gene Information Card
| Symbol | PRDM12 |
|---|---|
| Full Name | PR/SET Domain 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.12 |
| NCBI Gene ID | 59335 ncbi.nlm.nih.gov/gene/59335 |
| Ensembl ID | ENSG00000130711 |
| UniProt ID | Q9H4Q4 |
| OMIM ID | 616458 |
| HGNC ID | 13997 |
| Aliases | PFM9, PRDM12, PR domain zinc finger protein 12 |
Description
PRDM12 (PR/SET Domain 12) is a protein-coding gene that encodes a transcriptional regulator containing a PR domain and multiple zinc finger motifs. It plays a critical role in the development and maintenance of sensory neurons, particularly nociceptive neurons responsible for pain perception. Loss-of-function mutations in PRDM12 cause congenital insensitivity to pain (CIP), an autosomal recessive disorder characterized by the inability to perceive pain, often accompanied by other sensory deficits. PRDM12 is also implicated in epigenetic regulation through its PR domain, which may mediate histone methylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital insensitivity to pain (CIP) | Loss-of-function mutations impair sensory neuron development, leading to absence of pain perception | ClinVar, OMIM |
| Hereditary sensory and autonomic neuropathy (HSAN) | PRDM12 mutations disrupt nociceptor differentiation, causing sensory neuropathy | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.8 | Low |
| Spinal cord | 1.2 | Low |
| Testis | 0.5 | Low |
| Adipose tissue | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 0.6 | Low expression |
| HEK 293 (embryonic kidney) | 0.2 | Very low expression |
| K562 (leukemia) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Premature stop codon, loss of function |
| c.514C>T (p.Arg172Trp) | Missense | Rare | Disrupts zinc finger domain, reduced activity |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein translation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most PRDM12 mutations are loss-of-function, leading to congenital insensitivity to pain via impaired sensory neuron development.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) | • regulation of transcription, DNA-templated (GO:0006355) |
| • metal ion binding (GO:0046872) |
Pathways
• Sensory neuron development
• Nociceptor differentiation
Protein Summary
PRDM12 is a nuclear protein of 502 amino acids that contains an N-terminal PR domain (similar to SET methyltransferases) and six C-terminal C2H2 zinc fingers. It acts as a transcriptional regulator, likely involved in chromatin remodeling and gene expression control during neurogenesis. The protein is essential for the specification and survival of nociceptive sensory neurons. Loss of PRDM12 function results in the absence of small-diameter sensory neurons, leading to congenital pain insensitivity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRDM12 Knockout HEK293 Cell Line | EDJ-KQ14889 | Human | 59335 | Details Get a Quote |
| PRDM12 Knockout HeLa Cell Line | EDJ-KQ56965 | Human | 59335 | Details Get a Quote |
| PRDM12 Knockout A-549 Cell Line | EDJ-KQ65468 | Human | 59335 | Details Get a Quote |
| PRDM12 Knockout HCT 116 Cell Line | EDJ-KQ73906 | Human | 59335 | Details Get a Quote |
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