PRDM14

Summary

PRDM14 (PR/SET domain 14, HGNC:14001) is a protein-coding gene on chromosome 8q13.3, encoding PR domain zinc finger protein 14 (Q9GZV8). Transcription factor that has both positive and negative roles on transcription.

This gene encodes a member of the PRDI-BF1 and RIZ homology domain containing (PRDM) family of transcriptional regulators. The encoded protein may possess histone methyltransferase activity and plays a critical role in cell pluripotency by suppressing the expression of differentiation marker genes. Expression of this gene may play a role in breast cancer.

Source: NCBI Gene 63978 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 56 total
• Druggable target: yes
• MANE Select transcript: NM_024504

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14001
Approved symbol	PRDM14
Name	PR/SET domain 14
Location	8q13.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000147596
Ensembl biotype	protein_coding
OMIM	611781
Entrez	63978

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 9 protein_coding

ENST00000276594, ENST00000426346, ENST00000912626, ENST00000912627, ENST00000912628, ENST00000912629, ENST00000912630, ENST00000912631, ENST00000912632

RefSeq mRNA: 1 — MANE Select: NM_024504 NM_024504

CCDS: CCDS6206

Canonical transcript exons

ENST00000276594 — 8 exons

Exon	Start	End
ENSE00000980777	70069161	70069884
ENSE00000980778	70068479	70068532
ENSE00000980779	70068230	70068387
ENSE00000980780	70066235	70066505
ENSE00000980781	70058640	70058842
ENSE00000980782	70055300	70055401
ENSE00001017162	70071150	70071252
ENSE00001224121	70051651	70052304

Expression profiles

Bgee: expression breadth broad, 15 present calls, max score 90.91.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.7061 / max 266.3668, expressed in 99 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
93486	1.6823	82
93484	0.4518	60
93487	0.2913	55
93488	0.1645	51
93485	0.1162	44

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	90.91	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.85	gold quality
triceps brachii	UBERON:0001509	82.93	gold quality
gluteal muscle	UBERON:0002000	82.55	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.96	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	79.95	gold quality
tongue squamous epithelium	UBERON:0006919	79.52	gold quality
sperm	CL:0000019	77.28	gold quality
male germ cell	CL:0000015	76.81	gold quality
orbitofrontal cortex	UBERON:0004167	73.77	gold quality
cardia of stomach	UBERON:0001162	72.33	gold quality
tongue	UBERON:0001723	72.17	gold quality
vena cava	UBERON:0004087	72.07	gold quality
ventral tegmental area	UBERON:0002691	72.02	gold quality
body of tongue	UBERON:0011876	72.00	gold quality
inferior vagus X ganglion	UBERON:0005363	71.92	gold quality
subthalamic nucleus	UBERON:0001906	71.81	gold quality
substantia nigra pars compacta	UBERON:0001965	71.78	gold quality
pharyngeal mucosa	UBERON:0000355	71.73	gold quality
nipple	UBERON:0002030	71.72	gold quality
cerebellar vermis	UBERON:0004720	71.70	gold quality
Brodmann (1909) area 46	UBERON:0006483	71.70	gold quality
superior surface of tongue	UBERON:0007371	71.68	gold quality
saphenous vein	UBERON:0007318	71.59	gold quality
lateral nuclear group of thalamus	UBERON:0002736	71.39	gold quality
pericardium	UBERON:0002407	71.30	gold quality
dorsal plus ventral thalamus	UBERON:0001897	71.28	gold quality
substantia nigra pars reticulata	UBERON:0001966	71.27	gold quality
lateral globus pallidus	UBERON:0002476	71.20	gold quality
pons	UBERON:0000988	71.06	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.93

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
POU5F1	Activation

Upstream regulators (CollecTRI, top): PRDM4

miRNA regulators (miRDB)

13 targeting PRDM14, 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-6778-3P	99.96	67.29	2693
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-4721	99.26	66.05	818
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-4451	98.82	68.17	1455
HSA-MIR-6773-3P	98.17	65.51	1213
HSA-MIR-500B-3P	96.49	65.40	1087
HSA-MIR-3690	96.44	65.18	737
HSA-MIR-4524B-3P	95.52	64.12	964
HSA-MIR-6879-3P	93.93	64.00	759

Literature-anchored findings (GeneRIF, showing 24)

• PRDM14 mRNA is overexpressed in about two thirds of breast cancers; moreover, immunohistochemical analysis showed that expression of PRDM14 protein is also up-regulated. (PMID:17942894)
• These results suggest that PRDM14 is involved in the maintenance of the self-renewal of human ES cells by suppression of gene expression. (PMID:18194669)
• The high expression of PRDM14 in non-small cell lung cancer is associated with differentiation and histological type. (PMID:20840815)
• novel hESC regulators wherein PRDM14 exemplifies a key transcription factor required for the maintenance of hESC identity and the reacquisition of pluripotency in human somatic cells (PMID:20953172)
• Study reveals a repressive role of PRDM14 in the maintenance and induction of pluripotency and identifies PRDM14 as a new regulator of PRC2. (PMID:23280602)
• PRDM14 associated with cell differentiation in NSCLC. (PMID:23690269)
• The contribution of methylation-mediated gene silencing of PRDM14 to apoptosis evasion in HPV-positive cancer cells offers novel therapeutic options for HPV-induced cancers. (PMID:25233927)
• In response to cytokines, pluripotent stem cells differentiate first into a heterogeneous mesoderm-like cell population and then into Primordial Germ cell-Like Cells, which exhibit minimal PRDM14 expression. (PMID:25750208)
• PRDM14 bears a single PR domain and six tandemly repeated zinc fi ngers, which is involved in the process of the deacetylation and methylation of the histone, and is involved in the formation of tumor . [review] (PMID:26903163)
• PRDM14 role in cell proliferation and cell migration (PMID:27693212)
• Our results suggest that PRDM14 serves as an initial trigger for epigenetic changes and hyperdynamic plasticity in tumors via bivalent chromatin domains. (PMID:28423353)
• High expression of PRDM14 is associated with liver metastasis in pancreatic cancer. (PMID:28498896)
• miR-424–>cdc42–>prdm14 axis as a key molecular signalling cascade that might influence breast cancer progression in diabetic patients through hyperactivation of cancer stem cells. (PMID:29024936)
• Results identified GRP78 and HSP90a as binding partners of PRDM14 in triple-negative breast cancer cells, and all participate in cancer regulation. The interactions were direct and required the C-terminal region including the zinc finger motifs of PRDM14. (PMID:29178343)
• Data show that elevated PRDM14 in PGCLCs causes proliferation and differentiation defects in the germline. (PMID:29324254)
• High PRDM14 expression is associated with Cancer Stemness resulting in lung metastasis in breast cancer. (PMID:30155811)
• RNA interference of PRDM14, a gene expressed by breast cancer cells, reduced the size of tumors and lung metastases in nude mice (PMID:31099008)
• PRDM14 is implicated in cancer initiation.[review] (PMID:31130394)
• PRDM14 promotes malignant phenotype and correlates with poor prognosis in colorectal cancer. (PMID:31741141)
• PRDM14 targets are not conserved between mouse and human, emphasising the divergent molecular mechanisms of primordial germ cell specification. (PMID:32152282)
• PRDM14 mediates chemosensitivity and glycolysis in drugresistant A549/cisplatin cells and their progenitor A549 human lung adenocarcinoma cells. (PMID:33355367)
• LncRNA DNAJC3-AS1 functions as oncogene in renal cell carcinoma via regulation of the miR-27a-3p/PRDM14 axis. (PMID:33629299)
• YAP1 and PRDM14 converge to promote cell survival and tumorigenesis. (PMID:34990589)
• Integrated analysis of the role of PR/SET domain 14 in gastric cancer. (PMID:38840106)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	prdm14	ENSDARG00000045371
mus_musculus	Prdm14	ENSMUSG00000042414
rattus_norvegicus	Prdm14	ENSRNOG00000021792

Paralogs (36): ZBTB32 (ENSG00000011590), SNAI2 (ENSG00000019549), PRDM1 (ENSG00000057657), PRDM6 (ENSG00000061455), ZNF76 (ENSG00000065029), PATZ1 (ENSG00000100105), MAZ (ENSG00000103495), ZBTB16 (ENSG00000109906), ZNF451 (ENSG00000112200), ZBTB45 (ENSG00000119574), ZNF410 (ENSG00000119725), SNAI1 (ENSG00000124216), ZNF384 (ENSG00000126746), ZBTB1 (ENSG00000126804), VEZF1 (ENSG00000136451), ZNF276 (ENSG00000158805), ZNF362 (ENSG00000160094), ZNF653 (ENSG00000161914), ZNF281 (ENSG00000162702), ZNF148 (ENSG00000163848), ZNF143 (ENSG00000166478), HIC2 (ENSG00000169635), PRDM10 (ENSG00000170325), ZNF296 (ENSG00000170684), ZNF692 (ENSG00000171163), ZNF575 (ENSG00000176472), HIC1 (ENSG00000177374), ZBTB18 (ENSG00000179456), ZBTB42 (ENSG00000179627), ZBTB20 (ENSG00000181722), ZBTB7C (ENSG00000184828), SNAI3 (ENSG00000185669), ZFP91 (ENSG00000186660), MTF1 (ENSG00000188786), SCRT2 (ENSG00000215397), SCRT1 (ENSG00000261678)

Protein

Protein identifiers

PR domain zinc finger protein 14 — Q9GZV8 (reviewed: Q9GZV8)

Alternative names: PR domain-containing protein 14

All UniProt accessions (2): Q9GZV8, C9JMM8

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor that has both positive and negative roles on transcription. Required for the maintenance of embryonic stem cell identity and the reacquisition of pluripotency in somatic cells. May play an essential role in germ cell development at 2 levels: the reacquisition of potential pluripotency, including SOX2 up-regulation, and successful epigenetic reprogramming, characterized by EHMT1 repression. Its association with CBFA2T2 is required for the functions in pluripotency and germ cell formation. Directly up-regulates the expression of pluripotency gene POU5F1 through its proximal enhancer. Binds to the DNA consensus sequence 5’-GGTC[TC]CTAA-3'.

Subunit / interactions. Interacts with CBFA2T2.

Subcellular location. Nucleus.

Tissue specificity. Expressed in embryonic stem cells. Tends to be overexpressed in breast cancer (at protein level).

Domain organisation. The first 5 zinc fingers, but not the last one, are required for DNA-binding and transcriptional activity.

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

RefSeq proteins (1): NP_078780* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001214	SET_dom	Domain
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR044408	PRDM14_PR-SET	Domain
IPR046341	SET_dom_sf	Homologous_superfamily
IPR050331	Zinc_finger_PRDM4/PRDM1/PRDM14	Family

Pfam: PF00096, PF21549

UniProt features (13 total): zinc finger region 6, region of interest 2, chain 1, domain 1, compositionally biased region 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9GZV8-F1	60.83	0.02

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 79

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-452723	Transcriptional regulation of pluripotent stem cells

MSigDB gene sets: 132 (showing top): GOBP_POSITIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, TGACCTY_ERR1_Q2, GOBP_BLASTOCYST_FORMATION, GGGTGGRR_PAX4_03, GOBP_NEGATIVE_REGULATION_OF_FIBROBLAST_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_RESPONSE_TO_FIBROBLAST_GROWTH_FACTOR, GOBP_REGULATION_OF_FIBROBLAST_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY, GOBP_CILIUM_MOVEMENT, GOBP_REGULATION_OF_MICROTUBULE_BASED_MOVEMENT

GO Biological Process (19): negative regulation of transcription by RNA polymerase II (GO:0000122), cell morphogenesis (GO:0000902), cell fate specification (GO:0001708), inner cell mass cell fate commitment (GO:0001827), regulation of transcription by RNA polymerase II (GO:0006357), germ cell development (GO:0007281), embryo implantation (GO:0007566), fibroblast growth factor receptor signaling pathway (GO:0008543), fertilization (GO:0009566), germ-line stem cell population maintenance (GO:0030718), methylation (GO:0032259), negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037), negative regulation of gene expression, epigenetic (GO:0045814), homeostasis of number of cells within a tissue (GO:0048873), positive regulation of flagellated sperm motility (GO:1902093), positive regulation of stem cell population maintenance (GO:1902459), regulation of gene expression (GO:0010468), stem cell population maintenance (GO:0019827), epigenetic regulation of gene expression (GO:0040029)

GO Molecular Function (11): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), RNA binding (GO:0003723), methyltransferase activity (GO:0008168), zinc ion binding (GO:0008270), chromatin DNA binding (GO:0031490), methyltransferase regulator activity (GO:0141107), histone methyltransferase binding (GO:1990226), DNA binding (GO:0003677), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

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

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription by RNA polymerase II	2
cell fate commitment	2
reproductive process	2
stem cell population maintenance	2
nucleic acid binding	2
regulation of transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
anatomical structure morphogenesis	1
cellular developmental process	1
inner cell mass cell differentiation	1
regulation of DNA-templated transcription	1
developmental process involved in reproduction	1
gamete generation	1
cellular process involved in reproduction in multicellular organism	1
cell development	1
multicellular organism development	1
female pregnancy	1
cell surface receptor protein tyrosine kinase signaling pathway	1
cellular response to fibroblast growth factor stimulus	1
sexual reproduction	1
metabolic process	1
fibroblast growth factor receptor signaling pathway	1
negative regulation of signal transduction	1
regulation of fibroblast growth factor receptor signaling pathway	1
negative regulation of cellular response to growth factor stimulus	1
negative regulation of gene expression	1
epigenetic regulation of gene expression	1
tissue homeostasis	1
homeostasis of number of cells	1
positive regulation of cilium movement	1
flagellated sperm motility	1
regulation of flagellated sperm motility	1
positive regulation of cilium-dependent cell motility	1
positive regulation of reproductive process	1
positive regulation of developmental process	1
positive regulation of multicellular organismal process	1
regulation of stem cell population maintenance	1
gene expression	1
regulation of macromolecule biosynthetic process	1
multicellular organismal process	1

Protein interactions and networks

STRING

1400 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRDM14	TET1	Q8NFU7	880
PRDM14	TET2	Q6N021	855
PRDM14	NANOG	Q9H9S0	852
PRDM14	POU5F1	P31359	848
PRDM14	LIN28A	Q9H9Z2	830
PRDM14	SOX2	P48431	822
PRDM14	CBFA2T2	O43439	809
PRDM14	DAZL	Q92904	807
PRDM14	NANOS3	P60323	794
PRDM14	FOXD3	Q9UJU5	762
PRDM14	TFAP2C	Q92754	761
PRDM14	ESRRB	O95718	734
PRDM14	DNMT3B	Q9UBC3	723
PRDM14	DPPA3	Q6W0C5	717
PRDM14	BMP4	P12644	713

IntAct

224 interactions, top by confidence:

A	B	Type	Score
PRDM14	CBFA2T2	psi-mi:“MI:0915”(physical association)	0.860
CBFA2T2	PRDM14	psi-mi:“MI:0915”(physical association)	0.860
PRDM14	CBFA2T2	psi-mi:“MI:0914”(association)	0.860
ATPAF2	PRDM14	psi-mi:“MI:0915”(physical association)	0.850
PRDM14	TEKT4	psi-mi:“MI:0915”(physical association)	0.720
CDCA7L	PRDM14	psi-mi:“MI:0915”(physical association)	0.720
TEKT4	PRDM14	psi-mi:“MI:0915”(physical association)	0.720
RBM10	PRDM14	psi-mi:“MI:0915”(physical association)	0.720
HEXIM2	PRDM14	psi-mi:“MI:0915”(physical association)	0.670
PRDM14	HEXIM2	psi-mi:“MI:0915”(physical association)	0.670

BioGRID (132): PRDM14 (Two-hybrid), PRDM14 (Two-hybrid), PRDM14 (Two-hybrid), PRDM14 (Two-hybrid), PRDM14 (Two-hybrid), PRDM14 (Two-hybrid), PRDM14 (Two-hybrid), PRDM14 (Two-hybrid), PRDM14 (Two-hybrid), PRDM14 (Two-hybrid), BEX2 (Two-hybrid), ATPAF2 (Two-hybrid), HEXIM2 (Two-hybrid), TTC32 (Two-hybrid), TEKT4 (Two-hybrid)

ESM2 similar proteins: A0A1D5NS60, A0JN76, A1YFX5, A2T7G6, A6NJL1, D2HQI1, F1MJR8, O14901, P0CG00, P10754, P22227, P98182, Q0IJ29, Q1L8W0, Q3SWU4, Q5DW34, Q5EAC5, Q5EXX3, Q5RHB5, Q5SXI5, Q5T619, Q66H04, Q6NRM8, Q6NV66, Q6ZSB9, Q7M6U3, Q7TS63, Q7TSH3, Q7ZWZ4, Q801P1, Q86VK4, Q8BKX7, Q8BXX2, Q8NAM6, Q8NAP3, Q8NCP5, Q8R0A2, Q91VW9, Q96IT1, Q96N77

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, E9Q8T2, P57071, Q5R5M1, Q80V63, Q9NQX0, Q9QZP2, Q9UKN5, Q9CXE0, Q9NQX1, E9PZZ1, Q9H4Q3, A2BID7, Q6DCW1, Q9VH70, A1L2U9

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
PRDM14	“up-regulates quantity by expression”	POU5F1	“transcriptional regulation”
SOX2/POU5F1	“up-regulates quantity by expression”	PRDM14	“transcriptional regulation”
SOX17/POU5F1	“up-regulates quantity by expression”	PRDM14	“transcriptional regulation”
PRDM14	up-regulates	Pluripotency

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	49
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1219 predictions. Top by Δscore:

Variant	Effect	Δscore
8:70052304:TCTGC:T	acceptor_gain	1.0000
8:70052305:C:CC	acceptor_gain	1.0000
8:70052315:C:CT	acceptor_gain	1.0000
8:70052316:A:T	acceptor_gain	1.0000
8:70066230:CTCA:C	donor_loss	1.0000
8:70066231:TCA:T	donor_loss	1.0000
8:70066232:CACCT:C	donor_loss	1.0000
8:70066233:A:T	donor_loss	1.0000
8:70066234:C:CA	donor_loss	1.0000
8:70066234:CCTT:C	donor_gain	1.0000
8:70066506:C:CC	acceptor_gain	1.0000
8:70069153:C:CA	donor_gain	1.0000
8:70071146:CTA:C	donor_loss	1.0000
8:70071147:TACCT:T	donor_loss	1.0000
8:70071148:A:AT	donor_loss	1.0000
8:70071149:C:G	donor_loss	1.0000
8:70052300:AACCT:A	acceptor_gain	0.9900
8:70052301:ACCT:A	acceptor_gain	0.9900
8:70052302:CCT:C	acceptor_gain	0.9900
8:70052302:CCTC:C	acceptor_gain	0.9900
8:70052303:CT:C	acceptor_gain	0.9900
8:70052303:CTC:C	acceptor_gain	0.9900
8:70052305:C:A	acceptor_gain	0.9900
8:70055400:CA:C	acceptor_gain	0.9900
8:70055402:C:CC	acceptor_gain	0.9900
8:70058635:CTCA:C	donor_loss	0.9900
8:70058636:TCACC:T	donor_loss	0.9900
8:70058637:CA:C	donor_loss	0.9900
8:70058638:A:AC	donor_gain	0.9900
8:70058638:AC:A	donor_gain	0.9900

AlphaMissense

3778 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:70052215:A:C	F526L	1.000
8:70052215:A:T	F526L	1.000
8:70052216:A:G	F526S	1.000
8:70052217:A:G	F526L	1.000
8:70052238:A:G	C519R	1.000
8:70052242:G:C	F517L	1.000
8:70052242:G:T	F517L	1.000
8:70052244:A:G	F517L	1.000
8:70052260:G:C	H511Q	1.000
8:70052260:G:T	H511Q	1.000
8:70052266:C:A	R509S	1.000
8:70052266:C:G	R509S	1.000
8:70052272:G:C	H507Q	1.000
8:70052272:G:T	H507Q	1.000
8:70052274:G:C	H507D	1.000
8:70052274:G:T	H507N	1.000
8:70052282:A:G	L504P	1.000
8:70052299:G:C	F498L	1.000
8:70052299:G:T	F498L	1.000
8:70052300:A:G	F498S	1.000
8:70052301:A:G	F498L	1.000
8:70055306:A:C	C494W	1.000
8:70055317:A:G	C491R	1.000
8:70055339:G:C	H483Q	1.000
8:70055339:G:T	H483Q	1.000
8:70055351:G:C	H479Q	1.000
8:70055351:G:T	H479Q	1.000
8:70055361:A:G	L476P	1.000
8:70055378:G:C	F470L	1.000
8:70055378:G:T	F470L	1.000

dbSNP variants (sampled 300 via entrez): RS1000605515 (8:70061698 A>G), RS1000691120 (8:70062613 G>A), RS1000761572 (8:70069235 A>G), RS1000790517 (8:70055205 C>T), RS1000852764 (8:70056428 C>T), RS1000903669 (8:70056811 T>A,C,G), RS1000916080 (8:70062922 G>A), RS1001009156 (8:70064543 G>A,C,T), RS1001067279 (8:70067631 T>C), RS1001200161 (8:70063782 C>G,T), RS1001254479 (8:70069983 A>G), RS1001406898 (8:70071856 T>C), RS1001420295 (8:70057332 T>A), RS1001818047 (8:70064045 GAT>G), RS1001913217 (8:70051172 TTTTG>T)

Disease associations

OMIM: gene MIM:611781 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002022_13	Testicular germ cell tumor	5.000000e-08
GCST004635_19	Testicular germ cell tumor	5.000000e-08
GCST004713_25	Testicular germ cell tumor	1.000000e-07
GCST007201_99	Schizophrenia	2.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5214856 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
entinostat	affects cotreatment, increases expression	2
belinostat	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Benzo(a)pyrene	affects methylation, increases methylation	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
methylmercuric chloride	increases expression	1
bisphenol A	increases expression	1
terbufos	increases methylation	1
trichostatin A	decreases expression	1
arsenite	increases methylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	1
dorsomorphin	affects cotreatment, increases expression, decreases expression	1
bisphenol S	decreases methylation	1
Resveratrol	affects cotreatment, decreases expression	1
Acetaminophen	increases expression	1
Cadmium	decreases expression, increases abundance	1
Diethylhexyl Phthalate	decreases expression	1
Fonofos	increases methylation	1
Fluorouracil	affects expression	1
Parathion	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Tretinoin	affects expression	1
Valproic Acid	increases methylation	1
Zearalenone	increases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases 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
CHEMBL5214663	Binding	Selectivity interaction (Methyltransferase panel (DSF assay)) EUB0000234b PRDM14	Selectivity Literature for EUbOPEN Chemogenomics Library wave 3

Clinical trials (associated diseases)

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