PRDM12

Summary

PRDM12 (PR/SET domain 12, HGNC:13997) is a protein-coding gene on chromosome 9q34.12, encoding PR domain zinc finger protein 12 (Q9H4Q4). Transcriptional regulator necessary for the development of nociceptive neurons, playing a key role in determining the nociceptive lineage from neural crest cell progenitors.

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.

Source: NCBI Gene 59335 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hereditary sensory and autonomic neuropathy (Definitive, GenCC) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 293 total — 11 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 18
• Druggable target: yes
• MANE Select transcript: NM_021619

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13997
Approved symbol	PRDM12
Name	PR/SET domain 12
Location	9q34.12
Locus type	gene with protein product
Status	Approved
Aliases	PFM9
Ensembl gene	ENSG00000130711
Ensembl biotype	protein_coding
OMIM	616458
Entrez	59335

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000253008, ENST00000676323

RefSeq mRNA: 1 — MANE Select: NM_021619 NM_021619

CCDS: CCDS6934

Canonical transcript exons

ENST00000253008 — 5 exons

Exon	Start	End
ENSE00000868121	130664594	130664876
ENSE00000868122	130666608	130666798
ENSE00000868123	130668158	130668313
ENSE00000868124	130678529	130678640
ENSE00001052791	130681248	130682983

Expression profiles

Bgee: expression breadth broad, 41 present calls, max score 88.71.

Top tissues by expression

215 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
type B pancreatic cell	CL:0000169	88.71	gold quality
buccal mucosa cell	CL:0002336	86.87	gold quality
olfactory bulb	UBERON:0002264	85.10	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	80.28	silver quality
cervix squamous epithelium	UBERON:0006922	78.72	gold quality
diaphragm	UBERON:0001103	77.20	gold quality
vena cava	UBERON:0004087	76.82	silver quality
vastus lateralis	UBERON:0001379	76.48	gold quality
thymus	UBERON:0002370	76.22	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	75.92	gold quality
trachea	UBERON:0003126	75.16	gold quality
substantia nigra pars compacta	UBERON:0001965	74.95	silver quality
triceps brachii	UBERON:0001509	74.71	gold quality
cerebellar vermis	UBERON:0004720	74.67	gold quality
cardia of stomach	UBERON:0001162	74.34	gold quality
pericardium	UBERON:0002407	74.34	silver quality
biceps brachii	UBERON:0001507	74.15	gold quality
lateral nuclear group of thalamus	UBERON:0002736	74.05	gold quality
pons	UBERON:0000988	73.98	gold quality
pylorus	UBERON:0001166	73.93	gold quality
superior surface of tongue	UBERON:0007371	73.83	gold quality
penis	UBERON:0000989	73.13	silver quality
male germ cell	CL:0000015	72.86	gold quality
renal medulla	UBERON:0000362	72.81	gold quality
globus pallidus	UBERON:0001875	72.36	silver quality
cervix epithelium	UBERON:0004801	72.04	gold quality
medial globus pallidus	UBERON:0002477	71.93	silver quality
gluteal muscle	UBERON:0002000	71.83	gold quality
tongue squamous epithelium	UBERON:0006919	71.80	gold quality
sperm	CL:0000019	71.73	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.48

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

50 targeting PRDM12, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-582-5P	99.47	70.79	2635
HSA-MIR-889-3P	99.40	69.76	2103
HSA-MIR-3182	99.40	68.15	2454
HSA-MIR-3176	99.25	64.35	954
HSA-MIR-3922-3P	99.25	64.96	1136
HSA-MIR-6803-5P	99.19	63.90	1026

Literature-anchored findings (GeneRIF, showing 7)

• Down-regulation of PRDM12 is associated with the pathogenesis of chronic myeloid leukaemia with derivative chromosome 9 deletion (PMID:14523459)
• PRDM12 and its functional fly homolog Hamlet are evolutionary conserved master regulators of sensory neuronal specification and play a critical role in pain perception (PMID:25891934)
• Prdm12 is a key factor in the orchestration of sensory neurogenesis. (PMID:26005867)
• The natural history of the PRDM12-CIP disorder. (PMID:26975306)
• Study in five further children, from four families, with facial lesions typical of midface toddler excoriation syndrome (MiTES) found autosomal recessive mutations in PRDM12 in four of five patients and extended the phenotypic spectrum of PRDM12 mutations, which usually cause hereditary sensory and autonomic neuropathy type VIII, characterized by mutilating self-inflicted wounds of the extremities, lips and tongue. (PMID:29949203)
• PRDM12 in Health and Diseases. (PMID:34769459)
• Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes. (PMID:36111846)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	prdm12b	ENSDARG00000007430
mus_musculus	Prdm12	ENSMUSG00000079466
rattus_norvegicus	Prdm12	ENSRNOG00000009218

Paralogs (28): ZNF280C (ENSG00000056277), ZBTB25 (ENSG00000089775), PRDM13 (ENSG00000112238), BCL6 (ENSG00000113916), FEZF1 (ENSG00000128610), ZBTB46 (ENSG00000130584), ZNF280D (ENSG00000137871), NACC2 (ENSG00000148411), FEZF2 (ENSG00000153266), ZBTB7B (ENSG00000160685), NACC1 (ENSG00000160877), BCL6B (ENSG00000161940), GFI1 (ENSG00000162676), GFI1B (ENSG00000165702), ZBTB49 (ENSG00000168826), ZNF280A (ENSG00000169548), ZNF581 (ENSG00000171425), ZNF524 (ENSG00000171443), ZBTB26 (ENSG00000171448), ZBTB21 (ENSG00000173276), ZNF683 (ENSG00000176083), ZBTB33 (ENSG00000177485), ZBTB3 (ENSG00000185670), ZBTB6 (ENSG00000186130), ZBTB14 (ENSG00000198081), ZBTB12 (ENSG00000204366), ZNF580 (ENSG00000213015), ZNF280B (ENSG00000275004)

Protein

Protein identifiers

PR domain zinc finger protein 12 — Q9H4Q4 (reviewed: Q9H4Q4)

Alternative names: PR domain-containing protein 12

All UniProt accessions (2): Q9H4Q4, A0A6Q8PH01

UniProt curated annotations — full annotation on UniProt →

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 transcription factors, such as NEUROD1, BRN3A, and ISL1, specifically within nociceptive neurons, while repressing non-nociceptor cell fates. Essential for the proper function of nociceptors in adults, influencing both their excitability and their gene expression, thereby impacting how these neurons respond to various pain stimuli.

Subunit / interactions. Interacts with EHMT2.

Subcellular location. Nucleus.

Tissue specificity. Not found in adult tissues except in dorsal root ganglia.

Disease relevance. Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488] A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN8 patients manifest congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Some patients may also have decreased sweating and tear production. The disease is caused by variants affecting the gene represented in this entry.

Polymorphism. The poly-alanine tract is polymorphic in the general population and contains a maximum of 14 alanines.

Similarity. Belongs to the class V-like SAM-binding methyltransferase superfamily.

RefSeq proteins (1): NP_067632* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001214	SET_dom	Domain
IPR013087	Znf_C2H2_type	Domain
IPR017126	Znf_PRDM12	Family
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR044406	PRDM12_PR/SET	Domain
IPR046341	SET_dom_sf	Homologous_superfamily
IPR050331	Zinc_finger_PRDM4/PRDM1/PRDM14	Family

Pfam: PF00096, PF21549

UniProt features (26 total): strand 11, sequence variant 7, zinc finger region 3, chain 1, domain 1, helix 1, turn 1, region of interest 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3EP0	X-RAY DIFFRACTION	2.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H4Q4-F1	64.81	0.12

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 147 (showing top): CREL_01, BENPORATH_ES_WITH_H3K27ME3, GOBP_SENSORY_PERCEPTION_OF_TEMPERATURE_STIMULUS, GOBP_NEUROGENESIS, EFC_Q6, NFKB_Q6, GOBP_SENSORY_PERCEPTION_OF_PAIN, CDP_01, GOBP_DETECTION_OF_TEMPERATURE_STIMULUS, ATF1_Q6, GOBP_NEURON_FATE_SPECIFICATION, TGANTCA_AP1_C, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, NKX22_01, TATA_C

GO Biological Process (10): negative regulation of transcription by RNA polymerase II (GO:0000122), protein methylation (GO:0006479), regulation of gene expression (GO:0010468), sensory perception of pain (GO:0019233), neurogenesis (GO:0022008), neuron projection development (GO:0031175), neuron fate specification (GO:0048665), detection of temperature stimulus involved in sensory perception of pain (GO:0050965), methylation (GO:0032259), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (11): DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), zinc ion binding (GO:0008270), histone chaperone activity (GO:0140713), histone methyltransferase binding (GO:1990226), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), protein binding (GO:0005515), methyltransferase activity (GO:0008168), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of transcription by RNA polymerase II	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
transcription by RNA polymerase II	2
DNA-binding transcription factor activity, RNA polymerase II-specific	2
negative regulation of DNA-templated transcription	1
protein alkylation	1
macromolecule methylation	1
gene expression	1
regulation of macromolecule biosynthetic process	1
sensory perception	1
nervous system development	1
cell differentiation	1
neuron development	1
plasma membrane bounded cell projection organization	1
cell fate specification	1
neuron fate commitment	1
sensory perception of pain	1
detection of temperature stimulus involved in sensory perception	1
metabolic process	1
positive regulation of DNA-templated transcription	1
negative regulation of transcription by RNA polymerase II	1
DNA-binding transcription repressor activity	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
nucleic acid binding	1
transition metal ion binding	1
histone binding	1
protein carrier activity	1
enzyme binding	1
chromatin	1
DNA-binding transcription factor activity	1
binding	1
transferase activity, transferring one-carbon groups	1
catalytic activity	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

570 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRDM12	EHMT2	Q96KQ7	624
PRDM12	DRGX	A6NNA5	575
PRDM12	NEUROG1	Q92886	557
PRDM12	PRDM11	Q9NQV5	542
PRDM12	SCN11A	Q9UI33	505
PRDM12	SCN9A	Q15858	476
PRDM12	PHOX2B	Q99453	455
PRDM12	ASIC3	Q9UHC3	448
PRDM12	TRPV1	Q8NER1	445
PRDM12	NEUROD2	Q15784	437
PRDM12	DBX1	A6NMT0	424
PRDM12	GPR101	Q96P66	413
PRDM12	OR11L1	Q8NGX0	411
PRDM12	POU4F1	Q01851	399
PRDM12	EN1	Q05925	399

IntAct

2 interactions, top by confidence:

A	B	Type	Score
PRDM12	SERPINB8	psi-mi:“MI:0914”(association)	0.350

BioGRID (3): PRDM12 (Affinity Capture-MS), SERPINB8 (Affinity Capture-MS), RUNX1T1 (Affinity Capture-MS)

ESM2 similar proteins: A0A140LI67, A0JN76, A1L2U9, A2A5N8, A2AJ77, A6QPM3, B1WAZ8, B8A5Y1, D3ZWK4, E9Q3T6, E9Q8T2, O15060, O88866, O94966, P0C2N6, P57058, Q05516, Q0IH98, Q0IJ29, Q3B725, Q3TES0, Q3UZD5, Q4R739, Q60760, Q68UT7, Q6NZK8, Q6P2A1, Q6P4K6, Q6Q783, Q6S5L9, Q6YND2, Q76M68, Q7ZWZ4, Q80X44, Q8BXX2, Q8N680, Q8NE63, Q96CK0, Q99592, Q9GZV8

Diamond homologs: A0A163UT06, A2A935, A2AGX3, A2AJ77, B8A5Y1, E9Q3T6, O75626, P0C6Y7, P14404, Q03112, Q13029, Q3UZD5, Q60636, Q63755, Q6P2A1, Q8BZ97, Q96EQ9, Q9GZV8, Q9H4Q4, Q9HAZ2, Q9NQV5, Q9NQV7, Q9NQV8, Q9NQW5, A6QPM3, Q9CXE0, Q9NQX0, Q9NQX1, E9PZZ1, Q9H4Q3, A2BID7, Q6DCW1, Q9VH70, B4F6U4, E9Q8T2, I7HJS4, P57071, Q3UTQ7, Q5R5M1, Q5RAX9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

293 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	11
Likely pathogenic	4
Uncertain significance	139
Likely benign	102
Benign	21

Top pathogenic / likely-pathogenic (15)

Variant ID	HGVS	Classification
1072417	NM_021619.3(PRDM12):c.224-1G>A	Pathogenic
1323492	NM_021619.3(PRDM12):c.131_138del (p.Val44fs)	Pathogenic
1332705	NM_021619.3(PRDM12):c.785T>G (p.Met262Arg)	Pathogenic
1745663	NM_021619.3(PRDM12):c.514G>T (p.Glu172Ter)	Pathogenic
253118	NM_021619.3(PRDM12):c.1041CGC[(15_?)]	Pathogenic
253120	NM_021619.3(PRDM12):c.91G>T (p.Asp31Tyr)	Pathogenic
253121	NM_021619.3(PRDM12):c.516G>C (p.Glu172Asp)	Pathogenic
253122	NM_021619.3(PRDM12):c.866A>T (p.His289Leu)	Pathogenic
2706647	NM_021619.3(PRDM12):c.578dup (p.Pro194fs)	Pathogenic
59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	Pathogenic
916004	GRCh37/hg19 9q34.12(chr9:133553916-133554028)	Pathogenic
3773873	NM_021619.3(PRDM12):c.455C>A (p.Ala152Asp)	Likely pathogenic
430206	NM_021619.3(PRDM12):c.811T>G (p.Phe271Val)	Likely pathogenic
451909	NM_021619.3(PRDM12):c.600_606delinsCA (p.Trp201fs)	Likely pathogenic
848182	NM_021619.3(PRDM12):c.1041CGC[18] (p.Ala354_Ala359dup)	Likely pathogenic

SpliceAI

772 predictions. Top by Δscore:

Variant	Effect	Δscore
9:130666794:GGGAG:G	donor_gain	1.0000
9:130666795:GGAGG:G	donor_gain	1.0000
9:130666796:G:T	donor_gain	1.0000
9:130666797:AGG:A	donor_loss	1.0000
9:130666799:G:C	donor_loss	1.0000
9:130668153:CCCA:C	acceptor_loss	1.0000
9:130668156:A:AG	acceptor_gain	1.0000
9:130668156:A:C	acceptor_loss	1.0000
9:130668157:G:GG	acceptor_gain	1.0000
9:130668157:GGT:G	acceptor_gain	1.0000
9:130668269:G:GT	donor_gain	1.0000
9:130668305:GCCAT:G	donor_gain	1.0000
9:130668314:G:GG	donor_loss	1.0000
9:130668315:T:A	donor_loss	1.0000
9:130678526:CAGAT:C	acceptor_loss	1.0000
9:130678527:A:AC	acceptor_loss	1.0000
9:130678527:A:AG	acceptor_gain	1.0000
9:130678527:AGAT:A	acceptor_gain	1.0000
9:130678528:G:GT	acceptor_gain	1.0000
9:130678528:GA:G	acceptor_gain	1.0000
9:130678528:GAT:G	acceptor_gain	1.0000
9:130678528:GATG:G	acceptor_gain	1.0000
9:130678528:GATGA:G	acceptor_gain	1.0000
9:130678636:GCATG:G	donor_gain	1.0000
9:130678638:ATG:A	donor_gain	1.0000
9:130678639:TG:T	donor_gain	1.0000
9:130678640:GG:G	donor_gain	1.0000
9:130678640:GGT:G	donor_loss	1.0000
9:130678641:G:GC	donor_loss	1.0000
9:130678641:G:GG	donor_gain	1.0000

AlphaMissense

2410 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:130681298:T:C	C245R	1.000
9:130681307:T:C	C248R	1.000
9:130681308:G:A	C248Y	1.000
9:130681309:C:G	C248W	1.000
9:130681319:T:C	F252L	1.000
9:130681321:C:A	F252L	1.000
9:130681321:C:G	F252L	1.000
9:130681403:T:C	F280L	1.000
9:130681405:C:A	F280L	1.000
9:130681405:C:G	F280L	1.000
9:130666793:T:A	W137R	0.999
9:130666793:T:C	W137R	0.999
9:130668267:T:C	L175P	0.999
9:130668299:T:G	Y186D	0.999
9:130678551:T:C	L198P	0.999
9:130681298:T:A	C245S	0.999
9:130681299:G:C	C245S	0.999
9:130681300:C:G	C245W	0.999
9:130681307:T:A	C248S	0.999
9:130681308:G:C	C248S	0.999
9:130681320:T:C	F252S	0.999
9:130681338:T:C	L258P	0.999
9:130681346:C:A	H261N	0.999
9:130681346:C:G	H261D	0.999
9:130681348:C:A	H261Q	0.999
9:130681348:C:G	H261Q	0.999
9:130681353:G:C	R263P	0.999
9:130681382:T:C	C273R	0.999
9:130681384:C:G	C273W	0.999
9:130681404:T:C	F280S	0.999

dbSNP variants (sampled 300 via entrez): RS1000316444 (9:130678275 T>C), RS1000329734 (9:130681788 G>C,T), RS1000524777 (9:130664059 G>A), RS1000537767 (9:130667728 G>A,T), RS1000675967 (9:130664004 C>A,G,T), RS1000862735 (9:130677372 G>A,T), RS1001020599 (9:130672258 A>G), RS1001121965 (9:130677591 G>T), RS1001126577 (9:130662743 G>T), RS1001190577 (9:130663164 G>A), RS1001193993 (9:130678328 G>A,C,T), RS1001417824 (9:130668670 C>A,T), RS1001429154 (9:130673298 G>A), RS1001712762 (9:130663176 AG>A), RS1001762614 (9:130673503 CTT>C,CT,CTTT)

Disease associations

OMIM: gene MIM:616458 | disease phenotypes: MIM:616488, MIM:162400

GenCC curated gene-disease

Disease	Classification	Inheritance
hereditary sensory and autonomic neuropathy	Definitive	Autosomal recessive
congenital insensitivity to pain-hypohidrosis syndrome	Definitive	Autosomal recessive

Mondo (2): congenital insensitivity to pain-hypohidrosis syndrome (MONDO:0014662), hereditary sensory and autonomic neuropathy (MONDO:0015364)

Orphanet (2): Hereditary sensory and autonomic neuropathy type 8 (Orphanet:478664), Hereditary sensory and autonomic neuropathy (Orphanet:140471)

HPO phenotypes

18 total (18 of 18 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000407	Sensorineural hearing impairment
HP:0000559	Corneal scarring
HP:0000633	Decreased lacrimation
HP:0000966	Hypohidrosis
HP:0001249	Intellectual disability
HP:0001265	Hyporeflexia
HP:0001581	Recurrent skin infections
HP:0002495	Impaired vibratory sensation
HP:0002579	Gastrointestinal dysmotility
HP:0003593	Infantile onset
HP:0004409	Hyposmia
HP:0007021	Pain insensitivity
HP:0010829	Impaired temperature sensation
HP:0010831	Impaired proprioception
HP:0011463	Childhood onset
HP:0012804	Corneal ulceration
HP:0033748	Hypoesthesia

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002304_7	Fractional exhaled nitric oxide (childhood)	5.000000e-06
GCST008839_9	Height	8.000000e-28

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005536	nitric oxide exhalation measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D009477	Hereditary Sensory and Autonomic Neuropathies	C10.500.250; C10.574.500.493; C10.668.829.800.175; C16.131.666.310; C16.320.400.415

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5214854 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation, increases methylation, increases mutagenesis	3
Aflatoxin B1	increases expression, increases methylation	2
hydroxyhydroquinone	decreases expression, decreases reaction	1
arsenite	increases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
ferrous chloride	decreases expression	1
4-aminobenzhydrazide	decreases reaction, decreases expression	1
abrine	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Decitabine	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Diethylhexyl Phthalate	increases expression	1
Phthalic Acids	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Progesterone	increases expression	1
Smoke	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	decreases expression, increases methylation	1
Cadmium Chloride	increases expression	1
S-Nitrosoglutathione	increases expression	1
Particulate Matter	increases expression, increases abundance	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5214661	Binding	Selectivity interaction (Methyltransferase panel (DSF assay)) EUB0000234b PRDM12	Selectivity Literature for EUbOPEN Chemogenomics Library wave 3

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_HC90	HEK293 eGFP-PRDM12	Transformed cell line	Female

Clinical trials (associated diseases)

4 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT02624310	PHASE2	WITHDRAWN	A Study of Norepinephrine in Patients With Congenital Insensitivity to Pain and Anhidrosis
NCT02696746	Not specified	UNKNOWN	Painful Channelopathies Study
NCT03920774	Not specified	RECRUITING	The Natural History of Familial Dysautonomia
NCT05527379	Not specified	COMPLETED	Interest of Virtual Reality to Reduce Patient Anxiety During the Placement of a Percutaneous Implantable Port Catheter