2. Gene
  3. PRDM12 - PR/SET domain 12 Gene

PRDM12 - PR/SET domain 12 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PFM9; HSAN8

Gene ID: 59335 | Gene type: protein coding

About PRDM12

Cytogenetic location: 9q34.12 Genomic coordinates (GRCh38): 9:130,664,594-130,682,983 (from NCBI)

This gene has 2 transcripts (splice variants), 178 orthologues, 28 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

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]

PRDM12 Products(1)

mRNA Protein Name
NM_021619.3 NP_067632.2 PR domain zinc finger protein 12
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables histone chaperone activity IDA
IDA: Inferred from direct assay
26005867 GOA
enables histone methyltransferase binding IDA
IDA: Inferred from direct assay
26005867 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within detection of temperature stimulus involved in sensory perception of pain IMP
IMP: Inferred from mutant phenotype
26005867 GOA
acts upstream of or within neuron projection development IMP
IMP: Inferred from mutant phenotype
26005867 GOA
acts upstream of or within protein methylation IDA
IDA: Inferred from direct assay
26005867 GOA
acts upstream of or within sensory perception of pain IMP
IMP: Inferred from mutant phenotype
26005867 GOA
Cellular Component GO Annotation Evidence Reference Source
located in nucleus IDA
IDA: Inferred from direct assay
26005867 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PRDM12 Protein Structure

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (257 - 281)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (286 - 309)

  • 0
  • 100
  • 200
  • 300
  • 367 a.a.
Protein Preferred Names Protein Names

PR domain zinc finger protein 12

PR domain containing 12

Related Diseases

Diseases Alias
Neuropathy, Hereditary Sensory And Autonomic, Type Viii

HSAN8

Hsan Viii

Hereditary Sensory And Autonomic Neuropathy Type 8

Hereditary Sensory And Autonomic Neuropathy Type Viii

Neuropathy, Hereditary Sensory And Autonomic, 8

Neuropathy, Sensory And Autonomic, Hereditary, Type Viii
Neuropathy, Hereditary Sensory And Autonomic, Type Vii

Hereditary Sensory And Autonomic Neuropathy Type 7

HSAN7

Hereditary Sensory And Autonomic Neuropathy Type Vii

Hsan Vii

Cip With Hyperhidrosis And Gastrointestinal Dysfunction

Congenital Insensitivity To Pain With Hyperhidrosis And Gastrointestinal Dysfunction

Hsan With Hyperhidrosis And Gastrointestinal Dysfunction

Hereditary Sensory And Autonomic Neuropathy With Hyperhidrosis And Gastrointestinal Dysfunction

Insensitivity To Pain, Congenital, With Gastrointestinal Dysfunction And Hyperhidrosis

Neuropathy, Hereditary Sensory And Autonomic, 7

Congenital Insensitivity To Pain With Gastrointestinal Dysfunction And Hyperhidrosis

Neuropathy, Sensory And Autonomic, Hereditary, Type Vii
Neuropathy, Hereditary Sensory And Autonomic, Type Vi

Hereditary Sensory And Autonomic Neuropathy Type 6

HSAN6

Hsan Vi

Hereditary Sensory And Autonomic Neuropathy Type Vi

Familial Dysautonomia With Contractures

Neuropathy, Hereditary Sensory And Autonomic, 6

Hereditary Sensory Neuropathy Type Vi

Hsn Vi

Neuropathy, Sensory And Autonomic, Hereditary, Type Vi
Factitious Disorder

Munchausen Syndrome

Factitious Disorders

Münchausen Syndrome
Autonomic Neuropathy

Diabetic Autonomic Neuropathy
Hereditary Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathy

Hereditary Sensory And Autonomic Neuropathies

Familial Dysautonomia, Type Ii

Hsan

Sensory Neuropathy Hereditary

Neuropathy, Sensory And Autonomic, Hereditary

Neuropathy, Sensory, Hereditary

Sensory Neuropathy, Hereditary

Charcot-Marie-Tooth Disease

Cmt - [Charcot-Marie-Tooth Disease]
Neuropathy, Hereditary Sensory And Autonomic, Type V

HSAN5

Hereditary Sensory And Autonomic Neuropathy Type V

Hsan V

Hereditary Sensory And Autonomic Neuropathy Type 5

Congenital Insensitivity To Pain

Congenital Sensory Neuropathy With Selective Loss Of Small Myelinated Fibers

Hsan Type V

Insensitivity To Pain, Congenital

Hereditary Sensory And Autonomic Neuropathy, Type 5

Congenital Insensitivity To Pain And Thermal Analgesia

Neuropathy, Hereditary Sensory And Autonomic, 5

Hereditary Sensory Neuropathy Type V

Hsn V

Pain Insensitivity, Congenital

Neuropathy, Sensory And Autonomic, Hereditary, Type V

Hereditary Sensory Autonomic Neuropathy, Type 5

Hsan5 - [Hereditary Sensory And Autonomic Neuropathy Type 5]
Episodic Pain Syndrome, Familial, 3

FEPS3

Familial Episodic Pain Syndrome With Predominantly Lower Limb Involvement

Familial Episodic Pain Syndrome 3
Anhidrosis

Hypohidrosis

Absence Of Sweating

Adiaphoresis

Impaired Sweating

Oligohidrosis
Vasomotor Rhinitis

Rhinitis, Vasomotor

Rhinitis Vasomotor

Vmr - [Vasomotor Rhinitis]
Paroxysmal Extreme Pain Disorder

PEPD

Familial Rectal Pain

Pexpd

Submandibular, Ocular, And Rectal Pain With Flushing

Pain, Submandibular, Ocular, And Rectal, With Flushing

Rectal Pain, Familial

Submandibular, Ocular And Rectal Pain With Flushing

Familial Rectal Syndrome

Frp

Pain Disorder, Paroxysmal, Extreme
Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I

Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome

Hsan1e

Hsan1

Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy

Hsn1e

Hsnie

Hereditary Sensory Neuropathy Type Ie

Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome

Hereditary Sensory And Autonomic Neuropathy Type Ie

Hereditary Sensory And Autonomic Neuropathy Type 1e

Hereditary Sensory Neuropathy With Hearing Loss And Dementia

Dnmt1-Complex Disorder

Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss

Hsn Ie

Hereditary Sensory Autonomic Neuropathy, Type 1

Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS11062 PRDM12 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris PRDM12 VGNC VGNC:55789
Bos taurus PRDM12 VGNC VGNC:33290
Rattus norvegicus PRDM12 RGD RGD:1586401
Mus musculus PRDM12 MGD MGI:2685844
Felis catus PRDM12 VGNC VGNC:102970