PRDM4

gene
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Also known as PFM1

Summary

PRDM4 (PR/SET domain 4, HGNC:9348) is a protein-coding gene on chromosome 12q23.3, encoding PR domain zinc finger protein 4 (Q9UKN5). May function as a transcription factor involved in cell differentiation.

The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. An elevated expression level of this gene has been observed in PC12 cells treated with nerve growth factor, beta polypeptide (NGF). This gene is located in a chromosomal region that is thought to contain tumor suppressor genes.

Source: NCBI Gene 11108 — RefSeq curated summary.

At a glance

  • GWAS associations: 3
  • Clinical variants (ClinVar): 118 total
  • MANE Select transcript: NM_012406

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:9348
Approved symbolPRDM4
NamePR/SET domain 4
Location12q23.3
Locus typegene with protein product
StatusApproved
AliasesPFM1
Ensembl geneENSG00000110851
Ensembl biotypeprotein_coding
OMIM605780
Entrez11108

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 12 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000228437, ENST00000547188, ENST00000547268, ENST00000549416, ENST00000550376, ENST00000550659, ENST00000861823, ENST00000861824, ENST00000861825, ENST00000861826, ENST00000861827, ENST00000861828, ENST00000861829, ENST00000917533, ENST00000917534

RefSeq mRNA: 1 — MANE Select: NM_012406 NM_012406

CCDS: CCDS9115

Canonical transcript exons

ENST00000228437 — 12 exons

ExonStartEnd
ENSE00000818376107751415107752209
ENSE00000818377107753924107754109
ENSE00001366540107760957107761137
ENSE00002250300107732871107734522
ENSE00003475988107739383107739551
ENSE00003555392107744543107744661
ENSE00003562610107740946107741260
ENSE00003565425107742221107742348
ENSE00003577287107756832107756965
ENSE00003618573107760505107760771
ENSE00003659252107743197107743282
ENSE00003671644107746275107746424

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 95.47.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.4637 / max 83.8338, expressed in 1786 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
1331006.57291758
1331011.49481016
1330990.203371
1330980.192774

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
oocyteCL:000002395.47gold quality
secondary oocyteCL:000065594.91gold quality
endothelial cellCL:000011594.49gold quality
metanephric glomerulusUBERON:000473692.23gold quality
renal glomerulusUBERON:000007491.74gold quality
amniotic fluidUBERON:000017391.67gold quality
cervix epitheliumUBERON:000480191.60gold quality
tongue squamous epitheliumUBERON:000691991.46gold quality
islet of LangerhansUBERON:000000691.42gold quality
pancreatic ductal cellCL:000207991.37gold quality
kidney epitheliumUBERON:000481991.33gold quality
cerebellar vermisUBERON:000472090.74gold quality
cervix squamous epitheliumUBERON:000692290.73gold quality
nephron tubuleUBERON:000123190.70gold quality
epithelium of esophagusUBERON:000197690.69gold quality
diaphragmUBERON:000110390.49gold quality
esophagus squamous epitheliumUBERON:000692090.30gold quality
upper arm skinUBERON:000426389.83gold quality
squamous epitheliumUBERON:000691489.83gold quality
metanephrosUBERON:000008189.82gold quality
hair follicleUBERON:000207389.71gold quality
middle temporal gyrusUBERON:000277189.35gold quality
type B pancreatic cellCL:000016989.18silver quality
cardia of stomachUBERON:000116289.15gold quality
cortex of kidneyUBERON:000122589.13gold quality
lateral nuclear group of thalamusUBERON:000273689.06gold quality
renal medullaUBERON:000036288.99gold quality
ponsUBERON:000098888.97gold quality
epithelium of nasopharynxUBERON:000195188.95gold quality
lower esophagus mucosaUBERON:003583488.94gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes9.87
E-GEOD-99795no100.94

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

9 targets.

TargetRegulation
BMP4Activation
C6
ESRRBActivation
GATA6Activation
KLF5Activation
PRDM14Activation
TBX3Activation
TET2
TET3

JASPAR motifs

MotifNameFamily
MA1647.1PRDM4Factors with multiple dispersed zinc fingers

JASPAR matrix evidence (PMIDs): PMID:23918801

miRNA regulators (miRDB)

99 targeting PRDM4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3646100.0073.565283
HSA-MIR-4262100.0073.263931
HSA-MIR-5692A100.0074.406850
HSA-MIR-4673100.0066.641490
HSA-MIR-3667-3P99.9967.171636
HSA-MIR-511-3P99.9968.851467
HSA-MIR-181A-5P99.9972.962995
HSA-MIR-181B-5P99.9972.972996
HSA-MIR-181C-5P99.9972.952996
HSA-MIR-181D-5P99.9973.042997
HSA-MIR-3617-3P99.9867.86918
HSA-MIR-480399.9871.993117
HSA-MIR-302E99.9670.742669
HSA-MIR-570-3P99.9672.414910
HSA-MIR-590-3P99.9674.346478
HSA-MIR-548AA99.9670.643753
HSA-MIR-548AP-3P99.9670.643753
HSA-MIR-548T-3P99.9670.643753
HSA-MIR-545-3P99.9570.742783
HSA-MIR-6845-3P99.9466.881439
HSA-MIR-335-3P99.9373.364958
HSA-MIR-22-3P99.9368.13917
HSA-MIR-497-5P99.9271.832674
HSA-MIR-15A-5P99.9072.802787
HSA-MIR-15B-5P99.9072.782798
HSA-MIR-16-5P99.9072.802780
HSA-MIR-195-5P99.9072.812805
HSA-MIR-302A-3P99.8971.231777
HSA-MIR-302B-3P99.8971.231777
HSA-MIR-302C-3P99.8971.201778

Literature-anchored findings (GeneRIF, showing 3)

  • PRDM4 zinc knuckle by NMR spectroscopy. (PMID:21604305)
  • Both Prdm 4 and Prdm 5 are expressed in human corneal endothelium, primary hCECs and in HCECs-12 cells, characterised by expression of the Na(+)/K(+)-ATPase. (PMID:28228349)
  • results demonstrate that YAP promotes cell invasion by inducing leukocyte-specific integrin expression, and identify PRDM4 as a novel transcription factor for YAP targets. (PMID:29669796)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_rerioprdm4ENSDARG00000017366
mus_musculusPrdm4ENSMUSG00000035529
rattus_norvegicusPrdm4ENSRNOG00000004962

Paralogs (51): WIZ (ENSG00000011451), ZNF416 (ENSG00000083817), MYNN (ENSG00000085274), PRDM2 (ENSG00000116731), ZBTB17 (ENSG00000116809), ZNF644 (ENSG00000122482), GZF1 (ENSG00000125812), ZNF426 (ENSG00000130818), ZNF287 (ENSG00000141040), ZNF697 (ENSG00000143067), ZNF687 (ENSG00000143373), ZNF214 (ENSG00000149050), ZNF547 (ENSG00000152433), ZNF776 (ENSG00000152443), ZNF230 (ENSG00000159882), ZNF222 (ENSG00000159885), ZNF233 (ENSG00000159915), ZNF333 (ENSG00000160961), ZNF319 (ENSG00000166188), ZNF592 (ENSG00000166716), ZNF646 (ENSG00000167395), ZNF507 (ENSG00000168813), ZNF768 (ENSG00000169957), ZNF417 (ENSG00000173480), ZNF408 (ENSG00000175213), ZBTB41 (ENSG00000177888), ZNF223 (ENSG00000178386), ZNF852 (ENSG00000178917), ZNF784 (ENSG00000179922), ZNF572 (ENSG00000180938), ZNF707 (ENSG00000181135), ZNF746 (ENSG00000181220), ZNF467 (ENSG00000181444), ZNF530 (ENSG00000183647), ZNF17 (ENSG00000186272), ZNF527 (ENSG00000189164), ZKSCAN7 (ENSG00000196345), ZNF34 (ENSG00000196378), ZNF774 (ENSG00000196391), ZNF777 (ENSG00000196453)

Protein

Protein identifiers

PR domain zinc finger protein 4Q9UKN5 (reviewed: Q9UKN5)

Alternative names: PR domain-containing protein 4

All UniProt accessions (4): Q9UKN5, F8VRG2, F8VZQ2, H0YIF6

UniProt curated annotations — full annotation on UniProt →

Function. May function as a transcription factor involved in cell differentiation.

Subcellular location. Nucleus.

Tissue specificity. Expressed in many tissues. Highly expressed in ovary, testis, pancreas, brain, heart and prostate.

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

RefSeq proteins (1): NP_036538* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001214SET_domDomain
IPR013087Znf_C2H2_typeDomain
IPR017124PRDM4Family
IPR036236Znf_C2H2_sfHomologous_superfamily
IPR041493PRDM4_ZnfDomain
IPR044404PRDM4_PR/SETDomain
IPR046341SET_dom_sfHomologous_superfamily
IPR050331Zinc_finger_PRDM4/PRDM1/PRDM14Family

Pfam: PF00096, PF18445, PF21549

UniProt features (31 total): strand 10, zinc finger region 6, sequence conflict 4, helix 4, turn 3, chain 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

2 structures.

PDBMethodResolution (Å)
3DB5X-RAY DIFFRACTION2.15
2L9ZSOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9UKN5-F144.770.00

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-193670p75NTR negatively regulates cell cycle via SC1

MSigDB gene sets: 169 (showing top): GCM_GSPT1, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, BONCI_TARGETS_OF_MIR15A_AND_MIR16_1, CTAGGAA_MIR384, USF_01, GCM_NUMA1, CYTAGCAAY_UNKNOWN, USF_02, GCM_NF2, PID_P75_NTR_PATHWAY, GOBP_METHYLATION, PODAR_RESPONSE_TO_ADAPHOSTIN_UP, KEGG_NEUROTROPHIN_SIGNALING_PATHWAY, GOCC_TRANSFERASE_COMPLEX, GOCC_HISTONE_METHYLTRANSFERASE_COMPLEX

GO Biological Process (4): transcription by RNA polymerase II (GO:0006366), regulation of gene expression (GO:0010468), methylation (GO:0032259), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (11): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), methyltransferase activity (GO:0008168), zinc ion binding (GO:0008270), histone methyltransferase binding (GO:1990226), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (2): nucleus (GO:0005634), histone methyltransferase complex (GO:0035097)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
p75 NTR receptor-mediated signalling1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
RNA polymerase II transcription regulatory region sequence-specific DNA binding3
regulation of transcription by RNA polymerase II2
DNA-templated transcription1
gene expression1
regulation of macromolecule biosynthetic process1
metabolic process1
transcription by RNA polymerase II1
positive regulation of DNA-templated transcription1
cis-regulatory region sequence-specific DNA binding1
chromatin1
DNA-binding transcription factor activity1
DNA-binding transcription factor activity, RNA polymerase II-specific1
DNA-binding transcription activator activity1
positive regulation of transcription by RNA polymerase II1
transferase activity, transferring one-carbon groups1
transition metal ion binding1
enzyme binding1
double-stranded DNA binding1
sequence-specific DNA binding1
nucleic acid binding1
binding1
catalytic activity1
cation binding1
intracellular membrane-bounded organelle1
nucleoplasm1
methyltransferase complex1
nuclear protein-containing complex1

Protein interactions and networks

STRING

1184 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
PRDM4PRMT5O14744861
PRDM4SETD4Q9NVD3501
PRDM4SMYD5Q6GMV2494
PRDM4NGFP01138480
PRDM4SMYD4Q8IYR2461
PRDM4ASH1LQ9NR48434
PRDM4TMEM263Q8WUH6430
PRDM4TCP11L2Q8N4U5428
PRDM4VIPAS39Q9H9C1428
PRDM4PRDM2Q13029415
PRDM4SETD3Q86TU7414
PRDM4SETD5Q9C0A6401
PRDM4SETD1BQ9UPS6397
PRDM4POLR3BQ9NW08394
PRDM4SMYD2Q9NRG4394

IntAct

22 interactions, top by confidence:

ABTypeScore
PRDM4MSRB3psi-mi:“MI:0915”(physical association)0.560
PRDM4CTNNBL1psi-mi:“MI:0915”(physical association)0.560
MSRB3PRDM4psi-mi:“MI:0915”(physical association)0.560
CTNNBL1PRDM4psi-mi:“MI:0915”(physical association)0.560
NCS1PRDM4psi-mi:“MI:0915”(physical association)0.560
PRDM4PRDM4psi-mi:“MI:0915”(physical association)0.370
EMX1PRDM4psi-mi:“MI:0915”(physical association)0.370
PRDM4SERTAD1psi-mi:“MI:0915”(physical association)0.370
EIF4EPRDM4psi-mi:“MI:0915”(physical association)0.370
CFTRPRDM4psi-mi:“MI:0915”(physical association)0.370
SMAD3PRDM4psi-mi:“MI:0915”(physical association)0.370
PRDM4DBTpsi-mi:“MI:0914”(association)0.350
FMR1PRDM4psi-mi:“MI:0915”(physical association)0.000
NCS1PRDM4psi-mi:“MI:0915”(physical association)0.000
PRDM4msbApsi-mi:“MI:0915”(physical association)0.000
RCAN1PRDM4psi-mi:“MI:0915”(physical association)0.000
RUNX1PRDM4psi-mi:“MI:0915”(physical association)0.000
DYRK1APRDM4psi-mi:“MI:0915”(physical association)0.000

BioGRID (24): CTNNBL1 (Two-hybrid), MSRB3 (Two-hybrid), PRDM4 (Affinity Capture-RNA), PRDM4 (Two-hybrid), PRDM4 (Negative Genetic), PRDM4 (Affinity Capture-MS), PRKAR2A (Affinity Capture-MS), PRDM4 (Affinity Capture-MS), ERH (Affinity Capture-MS), PRDM4 (Affinity Capture-MS), NT5C2 (Affinity Capture-MS), PRDM4 (Protein-peptide), PRDM4 (PCA), PRDM4 (Two-hybrid), PRDM4 (Two-hybrid)

ESM2 similar proteins: A1L1J6, A2ANX9, A7Y7X5, E9Q8T2, G5E8B9, O15060, O43167, O43829, O62836, O95625, P08048, P0C6P6, P10925, P17010, P17012, P20662, P52739, Q01611, Q08376, Q0VCB0, Q2FAY8, Q3TTC2, Q4V8R6, Q52V16, Q5DU09, Q5PPG4, Q5R5M1, Q5R5N5, Q5RAU9, Q5SVQ8, Q6B4Z5, Q6GNP2, Q6INV8, Q7TS63, Q7ZVR6, Q80V63, Q80X44, Q811F1, Q8K3J5, Q92010

Diamond homologs: A0A163UT06, A2AGX3, A6QPM3, B8A5Y1, E9Q3T6, E9Q8T2, O75626, P0C6Y7, P14404, P57071, Q3UZD5, Q5R5M1, Q60636, Q6P2A1, Q80V63, Q96EQ9, Q9GZV8, Q9NQV5, Q9NQV7, Q9NQW5, Q9NQX0, Q9QZP2, Q9UKN5, A2BID7, B4F6U4, Q3UTQ7, Q5RAX9, Q9NQV6, Q93560, Q9H4Q3, A1L2U9, B1WAZ8, B1WBU4, Q02026, Q0IH98, Q0VCJ6, Q65XX7, Q6P882, Q8K3J5, Q96BR9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance93
Likely benign5
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1571 predictions. Top by Δscore:

VariantEffectΔscore
12:107739381:A:ACdonor_gain1.0000
12:107739382:C:CCdonor_gain1.0000
12:107742358:C:CTacceptor_gain1.0000
12:107742360:C:CTacceptor_gain1.0000
12:107742361:A:Cacceptor_gain1.0000
12:107742363:T:Cacceptor_gain1.0000
12:107743278:TATAT:Tacceptor_gain1.0000
12:107743280:TAT:Tacceptor_gain1.0000
12:107743281:ATC:Aacceptor_loss1.0000
12:107743282:TCTGC:Tacceptor_loss1.0000
12:107743283:C:CCacceptor_gain1.0000
12:107743283:C:CGacceptor_loss1.0000
12:107743284:T:Aacceptor_loss1.0000
12:107744538:CTGA:Cdonor_loss1.0000
12:107744539:TGA:Tdonor_loss1.0000
12:107744541:ACC:Adonor_loss1.0000
12:107744542:C:CTdonor_loss1.0000
12:107744545:T:Adonor_gain1.0000
12:107744562:G:GAdonor_gain1.0000
12:107744659:CAC:Cacceptor_gain1.0000
12:107746274:CCAA:Cdonor_gain1.0000
12:107746421:CACC:Cacceptor_gain1.0000
12:107746423:CC:Cacceptor_gain1.0000
12:107746424:CC:Cacceptor_gain1.0000
12:107756830:ACCT:Adonor_loss1.0000
12:107756831:C:Tdonor_loss1.0000
12:107756884:T:TAdonor_gain1.0000
12:107756961:TCATC:Tacceptor_gain1.0000
12:107756962:CATC:Cacceptor_gain1.0000
12:107756962:CATCC:Cacceptor_gain1.0000

AlphaMissense

5324 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
12:107734382:A:GL745P1.000
12:107734422:A:GC732R1.000
12:107734456:A:CH720Q1.000
12:107734456:A:TH720Q1.000
12:107734506:A:GC704R1.000
12:107739410:A:GL689P1.000
12:107739450:A:GC676R1.000
12:107739484:G:CH664Q1.000
12:107739484:G:TH664Q1.000
12:107739494:A:GL661P1.000
12:107739511:G:CF655L1.000
12:107739511:G:TF655L1.000
12:107739512:A:GF655S1.000
12:107739513:A:GF655L1.000
12:107739534:A:GC648R1.000
12:107740950:A:CH640Q1.000
12:107740950:A:TH640Q1.000
12:107740952:G:CH640D1.000
12:107740960:A:GL637P1.000
12:107740962:G:CH636Q1.000
12:107740962:G:TH636Q1.000
12:107740964:G:CH636D1.000
12:107740964:G:TH636N1.000
12:107740972:A:GL633P1.000
12:107740989:A:CF627L1.000
12:107740989:A:TF627L1.000
12:107740990:A:GF627S1.000
12:107740991:A:GF627L1.000
12:107741001:A:CC623W1.000
12:107741003:A:GC623R1.000

dbSNP variants (sampled 300 via entrez): RS1000117037 (12:107735727 C>G,T), RS1000172933 (12:107747928 C>T), RS1000187788 (12:107740382 G>A), RS1000251953 (12:107758327 T>G), RS1000349061 (12:107753748 T>C), RS1000486429 (12:107754215 A>T), RS1000538771 (12:107759879 T>C), RS1000584257 (12:107760044 C>T), RS1000593938 (12:107759491 T>C), RS1000936804 (12:107759706 T>C), RS1000944481 (12:107748303 T>C), RS1000962479 (12:107743616 G>A), RS1001001083 (12:107748063 C>A), RS1001096839 (12:107754072 C>A), RS1001293104 (12:107747638 T>G)

Disease associations

OMIM: gene MIM:605780 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

StudyTraitp-value
GCST002481_2Acne (severe)5.000000e-06
GCST007561_70Sleep duration3.000000e-08
GCST011494_60Daytime nap1.000000e-14

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0007828daytime rest measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

30 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Cyclosporineincreases expression3
bisphenol Aaffects cotreatment, increases methylation, decreases expression2
bisphenol Faffects cotreatment, decreases expression1
triphenyl phosphateaffects expression1
geraniolincreases expression1
ICG 001increases expression1
abrineincreases expression1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acidincreases expression1
Temozolomideincreases expression1
Fulvestrantaffects cotreatment, increases methylation1
Acetaminophenincreases expression1
Air Pollutantsincreases abundance, increases expression1
Atrazinedecreases expression1
Caffeineincreases phosphorylation1
Carbamazepineaffects expression1
Dexamethasoneaffects cotreatment, decreases expression1
Doxorubicindecreases expression1
Estradioldecreases expression1
Formaldehydedecreases expression1
Indomethacinaffects cotreatment, decreases expression1
N-Nitrosopyrrolidineincreases expression1
Piroxicamdecreases expression1
Tobacco Smoke Pollutionincreases expression1
Urethaneincreases expression1
Valproic Acidaffects expression1
1-Methyl-3-isobutylxanthineaffects cotreatment, decreases expression1
Paclitaxeldecreases expression1
Copper Sulfatedecreases expression1
Acrylamideincreases expression1
Particulate Matterincreases expression, increases abundance1

Cellosaurus cell lines

4 cell lines: 3 embryonic stem cell, 1 transformed cell line

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

CellosaurusNameCategorySex
CVCL_A5Q5SEES3-1V human PRDM4, clone1Embryonic stem cellMale
CVCL_A5Q6SEES3-1V human PRDM4, clone2Embryonic stem cellMale
CVCL_A5Q7SEES3-1V human PRDM4, clone3Embryonic stem cellMale
CVCL_XV74HEK293 eGFP-PRDM4Transformed cell lineFemale

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.