PRDM12 PR/SET domain 12
Gene ID: 59335, updated on 5-Mar-2024Gene type: protein coding
Also known as: PFM9; HSAN8
- See all available tests in GTR for this gene
- Go to complete Gene record for PRDM12
- Go to Variation Viewer for PRDM12 variants
Summary
This gene encodes a transcriptional regulator of sensory neuronal specification that plays a critical role in pain perception. The encoded protein contains an N-terminal PRDI-BF1 and RIZ homology (PR) domain, a SET domain, and three C-terminal C2H2 zinc finger DNA-binding domains. Naturally occurring mutations in this gene are associated with congenital insensitivity to pain (CIP), and hereditary sensory and autonomic neuropathies (HSAN's) affecting peripheral sensory and autonomic neurons. Deregulation of this gene is associated with solid cancers and hematological malignancies including chronic myeloid leukaemia. [provided by RefSeq, Mar 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Congenital insensitivity to pain-hypohidrosis syndrome | See labs |
| Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants. GeneReviews: Not available |
Genomic context
- Location:
- 9q34.12
- Sequence:
- Chromosome: 9; NC_000009.12 (130664594..130682983)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PRDM12 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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