PRDM12 Chromosome 9
PR/SET domain 12
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What This Gene Does
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]
Gene Info
Gene Group
"Zinc fingers C2H2-type|PR/SET domain family|Putative lysine methyltransferases"
Locus Type
gene with protein product
Location
9q34.12
Ensembl
ENSG00000130711
Associated Conditions (2)
Congenital insensitivity to pain-hypohidrosis syndrome
Inborn genetic diseases
Key Variants
RS1049529374
Conflicting classifications of pathogenicity
Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome
Health Risk
RS1288821918
Conflicting classifications of pathogenicity
Congenital insensitivity to pain-hypohidrosis syndrome, Inborn genetic diseases, Congenital insensitivity to pain-hypohidrosis syndrome
Health Risk
RS2132608027
Conflicting classifications of pathogenicity
Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome
Health Risk
RS2132608078
Conflicting classifications of pathogenicity
Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome
Health Risk
RS375887892
Conflicting classifications of pathogenicity
Congenital insensitivity to pain-hypohidrosis syndrome, Inborn genetic diseases, Congenital insensitivity to pain-hypohidrosis syndrome
Health Risk
RS747995562
Conflicting classifications of pathogenicity
Congenital insensitivity to pain-hypohidrosis syndrome, Inborn genetic diseases, Congenital insensitivity to pain-hypohidrosis syndrome
Health Risk
RS920723962
Conflicting classifications of pathogenicity
Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome
Health Risk
RS1554752857
Likely pathogenic
Health Risk
RS2132607877
Likely pathogenic
Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome
Health Risk
RS752427775
Likely pathogenic
Congenital insensitivity to pain-hypohidrosis syndrome, Inborn genetic diseases, Congenital insensitivity to pain-hypohidrosis syndrome
Health Risk
RS768643868
Likely pathogenic
Health Risk
RS1410327797
Pathogenic
Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1049529374 | Health Risk | Conflicting classifications of pathogenicity | Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome |
| RS1288821918 | Health Risk | Conflicting classifications of pathogenicity | Congenital insensitivity to pain-hypohidrosis syndrome, Inborn genetic diseases, Congenital insensitivity to pain-hypohidrosis syndrome |
| RS2132608027 | Health Risk | Conflicting classifications of pathogenicity | Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome |
| RS2132608078 | Health Risk | Conflicting classifications of pathogenicity | Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome |
| RS375887892 | Health Risk | Conflicting classifications of pathogenicity | Congenital insensitivity to pain-hypohidrosis syndrome, Inborn genetic diseases, Congenital insensitivity to pain-hypohidrosis syndrome |
| RS747995562 | Health Risk | Conflicting classifications of pathogenicity | Congenital insensitivity to pain-hypohidrosis syndrome, Inborn genetic diseases, Congenital insensitivity to pain-hypohidrosis syndrome |
| RS920723962 | Health Risk | Conflicting classifications of pathogenicity | Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome |
| RS1554752857 | Health Risk | Likely pathogenic | — |
| RS2132607877 | Health Risk | Likely pathogenic | Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome |
| RS752427775 | Health Risk | Likely pathogenic | Congenital insensitivity to pain-hypohidrosis syndrome, Inborn genetic diseases, Congenital insensitivity to pain-hypohidrosis syndrome |
| RS768643868 | Health Risk | Likely pathogenic | — |
| RS1410327797 | Health Risk | Pathogenic | Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome |
| RS2132586619 | Health Risk | Pathogenic | Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome |
| RS2132588902 | Health Risk | Pathogenic | Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome |
| RS2132608070 | Health Risk | Pathogenic | Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome |
| RS2490727103 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2490743581 | Health Risk | Pathogenic | Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome |
| RS755205487 | Health Risk | Pathogenic | Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome |
| RS879255636 | Health Risk | Pathogenic | Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome |
| RS879255637 | Health Risk | Pathogenic | Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome |
| RS879255638 | Health Risk | Pathogenic | Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome |