| Tbio | PR domain zinc finger protein 12 |
Involved in the positive regulation of histone H3-K9 dimethylation.
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]
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]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII | 1 | 0.0 | 0.0 |
| Pain Insensitivity, Congenital | 2 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Congenital Pain Insensitivity | 6 |
| Disease | Target Count | P-value |
|---|---|---|
| psoriasis | 6694 | 3.0e-04 |
| primary pancreatic ductal adenocarcinoma | 1109 | 2.0e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Neurodegenerative disease | 414 | 0.0 | 4.0 |
| Neuropathy | 261 | 0.0 | 4.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Hereditary sensory neuropathy | 11 | 5.17 | 2.6 |
| Disease | Target Count |
|---|---|
| Hereditary sensory and autonomic neuropathy type 5 | 3 |
| Disease | log2 FC | p |
|---|---|---|
| primary pancreatic ductal adenocarcinoma | -1.031 | 2.0e-03 |
| psoriasis | 1.400 | 3.0e-04 |
MMGSVLPAEALVLKTGLKAPGLALAEVITSDILHSFLYGRWRNVLGEQLFEDKSHHASPKTAFTAEVLAQ 1 - 70 SFSGEVQKLSSLVLPAEVIIAQSSIPGEGLGIFSKTWIKAGTEMGPFTGRVIAPEHVDICKNNNLMWEVF 71 - 140 NEDGTVRYFIDASQEDHRSWMTYIKCARNEQEQNLEVVQIGTSIFYKAIEMIPPDQELLVWYGNSHNTFL 141 - 210 GIPGVPGLEEDQKKNKHEDFHPADSAAGPAGRMRCVICHRGFNSRSNLRSHMRIHTLDKPFVCRFCNRRF 211 - 280 SQSSTLRNHVRLHTGERPYKCQVCQSAYSQLAGLRAHQKSARHRPPSTALQAHSPALPAPHAHAPALAAA 281 - 350 AAAAAAAAAHHLPAMVL 351 - 367 //
