PRDM12

PRDM12
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3EP0
Identifiers
Aliases	PRDM12, PFM9, HSAN8, PR domain 12, PR/SET domain 12
External IDs	OMIM: 616458; MGI: 2685844; HomoloGene: 10999; GeneCards: PRDM12; OMA:PRDM12 - orthologs
Gene location (Human)
Chr.	Chromosome 9 (human)
End	130,682,986 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	31,545,807 bp
RNA expression pattern
	Top expressed in
	buccal mucosa cell; ; pericardium; ; globus pallidus; ; internal globus pallidus; ; jejunum; ; prefrontal cortex; ; hypothalamus; ; hippocampal formation; ; temporal lobe; ; mesencephalon;
	Top expressed in
	spinal ganglia; ; neural tube; ; trigeminal ganglion; ; ventricular zone; ; ganglion of neuraxis; ; glossopharyngeal ganglion; ; superior colliculus; ; septum of telencephalon; ; Neural groove; ; inferior colliculus;
	More reference expression data
	n/a
Gene ontology
Molecular function	methyltransferase activity; transferase activity; DNA binding; metal ion binding; nucleic acid binding; histone methyltransferase binding; DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II transcription regulatory region sequence-specific DNA binding; chromatin DNA binding; sequence-specific DNA binding; DNA-binding transcription factor activity;
Cellular component	nucleus;
Biological process	neurogenesis; methylation; regulation of transcription, DNA-templated; transcription, DNA-templated; positive regulation of histone H3-K9 dimethylation; sensory perception of pain; neuron projection development; detection of temperature stimulus involved in sensory perception of pain; positive regulation of histone H3-K9 methylation; regulation of transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
	59335
	381359
	ENSG00000130711
	ENSMUSG00000079466
	Q9H4Q4
	A2AJ77
	NM_021619
	NM_001123362
	NP_067632
	NP_001116834
	Wikidata
View/Edit Human	View/Edit Mouse

PR domain zinc finger protein 12 is a protein that in humans is encoded by the PRDM12 gene. This gene is normally switched on during the development of pain-sensing nerve cells. People with homozygous mutations of the PRDM12 gene experience congenital insensitivity to pain (CIP).^[5]^[6] PRMD12 is a part of a larger domain that mediate histone methyltransferases. Enzymes target gene promoters in order to control gene expression.^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000130711 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000079466 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, et al. (July 2015). "Transcriptional regulator PRDM12 is essential for human pain perception" (PDF). Nature Genetics. 47 (7): 803–8. doi:10.1038/ng.3308. hdl:2262/75983. PMC 7212047. PMID 26005867.
^ Costandi M (25 May 2015). "Uncomfortably numb: The people who feel no pain". The Guardian. Retrieved 31 July 2015.
^ Hohenauer T, Moore AW (July 2012). "The Prdm family: expanding roles in stem cells and development". Development. 139 (13): 2267–82. doi:10.1242/dev.070110. PMID 22669819.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000130711 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000079466 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[:0-5] Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, et al. (July 2015). "Transcriptional regulator PRDM12 is essential for human pain perception" (PDF). Nature Genetics. 47 (7): 803–8. doi:10.1038/ng.3308. hdl:2262/75983. PMC 7212047. PMID 26005867.

[Uncomfortably_numb:_The_people_who_feel_no_pain-6] Costandi M (25 May 2015). "Uncomfortably numb: The people who feel no pain". The Guardian. Retrieved 31 July 2015.

[7] Hohenauer T, Moore AW (July 2012). "The Prdm family: expanding roles in stem cells and development". Development. 139 (13): 2267–82. doi:10.1242/dev.070110. PMID 22669819.

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