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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	59335
Gene name Gene Name - the full gene name approved by the HGNC.	PR/SET domain 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PRDM12
Synonyms (NCBI Gene) Gene synonyms aliases	HSAN8, PFM9
Disease Acronyms (UniProt) Disease acronyms from UniProt database	HSAN8
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q34.12
Summary Summary of gene provided in NCBI Entrez Gene.	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(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	26005867
GO:0005654	Component	Nucleoplasm	IDA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0010468	Process	Regulation of gene expression	IBA	21873635
GO:0019233	Process	Sensory perception of pain	IMP	26005867
GO:0022008	Process	Neurogenesis	IBA	21873635
GO:0031175	Process	Neuron projection development	IMP	26005867
GO:0032259	Process	Methylation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050965	Process	Detection of temperature stimulus involved in sensory perception of pain	IMP	26005867
GO:0051574	Process	Positive regulation of histone H3-K9 methylation	IDA	26005867
GO:1900111	Process	Positive regulation of histone H3-K9 dimethylation	IBA	21873635
GO:1900111	Process	Positive regulation of histone H3-K9 dimethylation	IMP	26005867
GO:1990226	Function	Histone methyltransferase binding	IBA	21873635
GO:1990226	Function	Histone methyltransferase binding	IDA	26005867

MIM	HGNC	e!Ensembl
616458	13997	ENSG00000130711

Protein

UniProt ID

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

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Hereditary motor and sensory neuropathy	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII	rs1555365597, rs387906941, rs207482230, rs587778791, rs587778798, rs587777108, rs587780564, rs587777789, rs1566733927	26005867, 25891934, 28050684, 26975306
Hereditary sensory and autonomic neuropathy	Hereditary sensory and autonomic neuropathy type 8	rs137852739, rs137852737, rs28940291, rs28940294, rs267607089, rs267607091, rs119482081, rs119482083, rs119482082, rs267607087, rs111033592, rs111033590, rs111033591, rs387906331, rs387906332 View all (41 more)

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Hypohidrosis	congenital insensitivity to pain-hypohidrosis syndrome	GenCC
Neuropathy	hereditary sensory and autonomic neuropathy	GenCC

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining
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)