PRDM12

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]

Description

PR/SET domain 12

Tissue specificity

Tissue enriched (brain)

Subcell location

Nucleoplasm

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins

Chromosome

9 (130664594 - 130682986)

Ensembl ID

ENSG00000130711  (ver. 103.38)

Orthologs

Mouse Prdm12: ENSMUSG00000079466

UniProt

Q9H4Q4

neXtProt

NX_Q9H4Q4

Human splice variants
Mouse splice variants

Protein structure