PRDM12 gene

PR/SET domain 12

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Involved in the positive regulation of histone H3-K9 dimethylation.

From NCBI Gene:

  • Neuropathy, hereditary sensory and autonomic, type VIII

From UniProt:

Neuropathy, hereditary sensory and autonomic, 8 (HSAN8): A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN8 patients manifest congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Some patients may also have decreased sweating and tear production. [MIM:616488]

Cytogenetic Location: 9q34.12, which is the long (q) arm of chromosome 9 at position 34.12

Molecular Location: base pairs 130,664,594 to 130,682,997 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9q34.12, which is the long (q) arm of chromosome 9 at position 34.12
  • HSAN8
  • PFM9