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PRDM12 - PR/SET domain 12 Gene

Also Known as PFM9; HSAN8

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 59335

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	References	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	References	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	References	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

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

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 Set	/	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
Others	PRDM12	NCBI