Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	59335
Gene name	PR/SET domain 12
Gene symbol	PRDM12
Synonyms (NCBI Gene)	HSAN8PFM9
Chromosome	9
Chromosome location	9q34.12
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 f

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs755205487	G>A,C	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs768643868	T>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs879255636	T>A	Pathogenic	Coding sequence variant, missense variant
rs879255637	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs879255638	A>T	Pathogenic	Coding sequence variant, missense variant
rs1554752857	GTGGTAC>CA	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (84)

miRTarBase ID	miRNA	Experiments	Reference
MIRT719793	hsa-miR-6733-3p	HITS-CLIP	19536157
MIRT719792	hsa-miR-4302	HITS-CLIP	19536157
MIRT719791	hsa-miR-3126-5p	HITS-CLIP	19536157
MIRT719790	hsa-miR-6875-5p	HITS-CLIP	19536157
MIRT719789	hsa-miR-4419a	HITS-CLIP	19536157
MIRT719788	hsa-miR-4510	HITS-CLIP	19536157
MIRT719787	hsa-miR-6127	HITS-CLIP	19536157
MIRT719786	hsa-miR-6129	HITS-CLIP	19536157
MIRT719785	hsa-miR-6130	HITS-CLIP	19536157
MIRT719784	hsa-miR-6133	HITS-CLIP	19536157
MIRT719783	hsa-miR-4632-3p	HITS-CLIP	19536157
MIRT719782	hsa-miR-4710	HITS-CLIP	19536157
MIRT719781	hsa-miR-6834-5p	HITS-CLIP	19536157
MIRT719793	hsa-miR-6733-3p	HITS-CLIP	19536157
MIRT719792	hsa-miR-4302	HITS-CLIP	19536157
MIRT719791	hsa-miR-3126-5p	HITS-CLIP	19536157
MIRT719790	hsa-miR-6875-5p	HITS-CLIP	19536157
MIRT719789	hsa-miR-4419a	HITS-CLIP	19536157
MIRT719788	hsa-miR-4510	HITS-CLIP	19536157
MIRT719787	hsa-miR-6127	HITS-CLIP	19536157
MIRT719786	hsa-miR-6129	HITS-CLIP	19536157
MIRT719785	hsa-miR-6130	HITS-CLIP	19536157
MIRT719784	hsa-miR-6133	HITS-CLIP	19536157
MIRT719783	hsa-miR-4632-3p	HITS-CLIP	19536157
MIRT719782	hsa-miR-4710	HITS-CLIP	19536157
MIRT719781	hsa-miR-6834-5p	HITS-CLIP	19536157
MIRT1259915	hsa-miR-1284	CLIP-seq
MIRT1259916	hsa-miR-145	CLIP-seq
MIRT1259917	hsa-miR-1538	CLIP-seq
MIRT1259918	hsa-miR-1908	CLIP-seq
MIRT1259919	hsa-miR-2110	CLIP-seq
MIRT1259920	hsa-miR-2277-5p	CLIP-seq
MIRT1259921	hsa-miR-3136-3p	CLIP-seq
MIRT1259922	hsa-miR-3157-3p	CLIP-seq
MIRT1259923	hsa-miR-3183	CLIP-seq
MIRT1259924	hsa-miR-3940-3p	CLIP-seq
MIRT1259925	hsa-miR-4271	CLIP-seq
MIRT1259926	hsa-miR-4290	CLIP-seq
MIRT1259927	hsa-miR-431	CLIP-seq
MIRT1259928	hsa-miR-4649-3p	CLIP-seq
MIRT1259929	hsa-miR-4667-3p	CLIP-seq
MIRT1259930	hsa-miR-4699-3p	CLIP-seq
MIRT1259931	hsa-miR-4723-3p	CLIP-seq
MIRT1259932	hsa-miR-4725-3p	CLIP-seq
MIRT1259933	hsa-miR-4738-3p	CLIP-seq
MIRT1259934	hsa-miR-4745-3p	CLIP-seq
MIRT1259935	hsa-miR-4760-5p	CLIP-seq
MIRT1259936	hsa-miR-4761-5p	CLIP-seq
MIRT1259937	hsa-miR-577	CLIP-seq
MIRT1259938	hsa-miR-583	CLIP-seq
MIRT1259939	hsa-miR-624	CLIP-seq
MIRT1259940	hsa-miR-663	CLIP-seq
MIRT1259941	hsa-miR-665	CLIP-seq
MIRT1259942	hsa-miR-744	CLIP-seq
MIRT1259943	hsa-miR-874	CLIP-seq
MIRT2076571	hsa-miR-1273	CLIP-seq
MIRT1259916	hsa-miR-145	CLIP-seq
MIRT1259922	hsa-miR-3157-3p	CLIP-seq
MIRT1259923	hsa-miR-3183	CLIP-seq
MIRT1259926	hsa-miR-4290	CLIP-seq
MIRT1259927	hsa-miR-431	CLIP-seq
MIRT1259929	hsa-miR-4667-3p	CLIP-seq
MIRT1259931	hsa-miR-4723-3p	CLIP-seq
MIRT2076572	hsa-miR-720	CLIP-seq
MIRT1259943	hsa-miR-874	CLIP-seq
MIRT1259916	hsa-miR-145	CLIP-seq
MIRT2303181	hsa-miR-205	CLIP-seq
MIRT1259920	hsa-miR-2277-5p	CLIP-seq
MIRT1259922	hsa-miR-3157-3p	CLIP-seq
MIRT1259923	hsa-miR-3183	CLIP-seq
MIRT1259926	hsa-miR-4290	CLIP-seq
MIRT1259927	hsa-miR-431	CLIP-seq
MIRT1259929	hsa-miR-4667-3p	CLIP-seq
MIRT1259931	hsa-miR-4723-3p	CLIP-seq
MIRT1259943	hsa-miR-874	CLIP-seq
MIRT1259916	hsa-miR-145	CLIP-seq
MIRT1259922	hsa-miR-3157-3p	CLIP-seq
MIRT1259923	hsa-miR-3183	CLIP-seq
MIRT1259926	hsa-miR-4290	CLIP-seq
MIRT1259927	hsa-miR-431	CLIP-seq
MIRT1259929	hsa-miR-4667-3p	CLIP-seq
MIRT1259931	hsa-miR-4723-3p	CLIP-seq
MIRT2076572	hsa-miR-720	CLIP-seq
MIRT1259943	hsa-miR-874	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	26005867
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006479	Process	Protein methylation	IDA	26005867
GO:0008270	Function	Zinc ion binding	IEA
GO:0010468	Process	Regulation of gene expression	IBA
GO:0019233	Process	Sensory perception of pain	IEA
GO:0019233	Process	Sensory perception of pain	IMP	26005867
GO:0019233	Process	Sensory perception of pain	ISS
GO:0022008	Process	Neurogenesis	IBA
GO:0022008	Process	Neurogenesis	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0031175	Process	Neuron projection development	IMP	26005867
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048665	Process	Neuron fate specification	IEA
GO:0048665	Process	Neuron fate specification	ISS
GO:0050965	Process	Detection of temperature stimulus involved in sensory perception of pain	IMP	26005867
GO:0140713	Function	Histone chaperone activity	IDA	26005867
GO:0140713	Function	Histone chaperone activity	IEA
GO:1990226	Function	Histone methyltransferase binding	IBA
GO:1990226	Function	Histone methyltransferase binding	IDA	26005867

MIM	HGNC	e!Ensembl
616458	13997	ENSG00000130711

Q9H4Q4

Protein name

PR domain zinc finger protein 12 (PR domain-containing protein 12)

Protein function

Transcriptional regulator necessary for the development of nociceptive neurons, playing a key role in determining the nociceptive lineage from neural crest cell progenitors. Initiates neurogenesis and activates downstream pro-neuronal transcript

PDB

3EP0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00096	zf-C2H2	243 → 265	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	271 → 293	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: Not found in adult tissues except in dorsal root ganglia. {ECO:0000269|PubMed:26005867}.

Sequence

MMGSVLPAEALVLKTGLKAPGLALAEVITSDILHSFLYGRWRNVLGEQLFEDKSHHASPK
TAFTAEVLAQSFSGEVQKLSSLVLPAEVIIAQSSIPGEGLGIFSKTWIKAGTEMGPFTGR
VIAPEHVDICKNNNLMWEVFNEDGTVRYFIDASQEDHRSWMTYIKCARNEQEQNLEVVQI
GTSIFYKAIEMIPPDQELLVWYGNSHNTFLGIPGVPGLEEDQKKNKHEDFHPADSAAGPA
GRMRCVICHRGFNSRSNLRSHMRIHTLDKPFVCRFCNRRFSQSSTLRNHVRLHTGERPYK
CQVCQSAYSQLAGLRAHQKSARHRPPSTALQAHSPALPAPHAHAPALAAAAAAAAAAAAH
HLPAMVL

Sequence length

367

Interactions

View interactions

237

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital insensitivity to pain-hypohidrosis syndrome	Pathogenic; Likely pathogenic	rs2132588902, rs2132586619, rs2132608070, rs2132607877, rs1410327797, rs879255636, rs879255637, rs755205487, rs879255638, rs2490743581, rs752427775	RCV001385116 RCV001784875 RCV001805751 RCV001843830 RCV003016068 RCV000239476 RCV000239529 RCV000239564 RCV000239481 RCV003592614 RCV001051882

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Likely benign	rs141283259	RCV005919358
Hereditary sensory and autonomic neuropathy	Uncertain significance	rs752427775	RCV005359816
PRDM12-related disorder	Likely benign; Benign	rs759795008, rs764212313, rs752427775	RCV003948590 RCV003951175 RCV003962608 RCV003945324

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Corneal Opacity	Associate	36111846
Hereditary Sensory and Autonomic Neuropathies	Associate	35263888
Pain Insensitivity Congenital	Associate	26975306, 36111846, 38591490
Peritoneal Neoplasms	Associate	36111846
Prostatic Neoplasms	Associate	30616239
Pruritus	Associate	38591490
Tibial Fractures	Associate	38591490

PRDM12 (PR/SET domain 12)