PRDM4
gene geneOn this page
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
| Field | Value |
|---|---|
| HGNC ID | HGNC:9348 |
| Approved symbol | PRDM4 |
| Name | PR/SET domain 4 |
| Location | 12q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PFM1 |
| Ensembl gene | ENSG00000110851 |
| Ensembl biotype | protein_coding |
| OMIM | 605780 |
| Entrez | 11108 |
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
| Exon | Start | End |
|---|---|---|
| ENSE00000818376 | 107751415 | 107752209 |
| ENSE00000818377 | 107753924 | 107754109 |
| ENSE00001366540 | 107760957 | 107761137 |
| ENSE00002250300 | 107732871 | 107734522 |
| ENSE00003475988 | 107739383 | 107739551 |
| ENSE00003555392 | 107744543 | 107744661 |
| ENSE00003562610 | 107740946 | 107741260 |
| ENSE00003565425 | 107742221 | 107742348 |
| ENSE00003577287 | 107756832 | 107756965 |
| ENSE00003618573 | 107760505 | 107760771 |
| ENSE00003659252 | 107743197 | 107743282 |
| ENSE00003671644 | 107746275 | 107746424 |
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 ID | TPM avg | Samples expressed |
|---|---|---|
| 133100 | 6.5729 | 1758 |
| 133101 | 1.4948 | 1016 |
| 133099 | 0.2033 | 71 |
| 133098 | 0.1927 | 74 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 95.47 | gold quality |
| secondary oocyte | CL:0000655 | 94.91 | gold quality |
| endothelial cell | CL:0000115 | 94.49 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 92.23 | gold quality |
| renal glomerulus | UBERON:0000074 | 91.74 | gold quality |
| amniotic fluid | UBERON:0000173 | 91.67 | gold quality |
| cervix epithelium | UBERON:0004801 | 91.60 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 91.46 | gold quality |
| islet of Langerhans | UBERON:0000006 | 91.42 | gold quality |
| pancreatic ductal cell | CL:0002079 | 91.37 | gold quality |
| kidney epithelium | UBERON:0004819 | 91.33 | gold quality |
| cerebellar vermis | UBERON:0004720 | 90.74 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 90.73 | gold quality |
| nephron tubule | UBERON:0001231 | 90.70 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 90.69 | gold quality |
| diaphragm | UBERON:0001103 | 90.49 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 90.30 | gold quality |
| upper arm skin | UBERON:0004263 | 89.83 | gold quality |
| squamous epithelium | UBERON:0006914 | 89.83 | gold quality |
| metanephros | UBERON:0000081 | 89.82 | gold quality |
| hair follicle | UBERON:0002073 | 89.71 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 89.35 | gold quality |
| type B pancreatic cell | CL:0000169 | 89.18 | silver quality |
| cardia of stomach | UBERON:0001162 | 89.15 | gold quality |
| cortex of kidney | UBERON:0001225 | 89.13 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 89.06 | gold quality |
| renal medulla | UBERON:0000362 | 88.99 | gold quality |
| pons | UBERON:0000988 | 88.97 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 88.95 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 88.94 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.87 |
| E-GEOD-99795 | no | 100.94 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
9 targets.
| Target | Regulation |
|---|---|
| BMP4 | Activation |
| C6 | |
| ESRRB | Activation |
| GATA6 | Activation |
| KLF5 | Activation |
| PRDM14 | Activation |
| TBX3 | Activation |
| TET2 | |
| TET3 |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1647.1 | PRDM4 | Factors 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):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302B-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302C-3P | 99.89 | 71.20 | 1778 |
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
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | prdm4 | ENSDARG00000017366 |
| mus_musculus | Prdm4 | ENSMUSG00000035529 |
| rattus_norvegicus | Prdm4 | ENSRNOG00000004962 |
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 4 — Q9UKN5 (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)
| ID | Name | Type |
|---|---|---|
| IPR001214 | SET_dom | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR017124 | PRDM4 | Family |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR041493 | PRDM4_Znf | Domain |
| IPR044404 | PRDM4_PR/SET | Domain |
| IPR046341 | SET_dom_sf | Homologous_superfamily |
| IPR050331 | Zinc_finger_PRDM4/PRDM1/PRDM14 | Family |
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.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3DB5 | X-RAY DIFFRACTION | 2.15 |
| 2L9Z | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UKN5-F1 | 44.77 | 0.00 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-193670 | p75NTR 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:
| Category | Pathways |
|---|---|
| p75 NTR receptor-mediated signalling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| regulation of transcription by RNA polymerase II | 2 |
| DNA-templated transcription | 1 |
| gene expression | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| metabolic process | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| transferase activity, transferring one-carbon groups | 1 |
| transition metal ion binding | 1 |
| enzyme binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nucleoplasm | 1 |
| methyltransferase complex | 1 |
| nuclear protein-containing complex | 1 |
Protein interactions and networks
STRING
1184 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PRDM4 | PRMT5 | O14744 | 861 |
| PRDM4 | SETD4 | Q9NVD3 | 501 |
| PRDM4 | SMYD5 | Q6GMV2 | 494 |
| PRDM4 | NGF | P01138 | 480 |
| PRDM4 | SMYD4 | Q8IYR2 | 461 |
| PRDM4 | ASH1L | Q9NR48 | 434 |
| PRDM4 | TMEM263 | Q8WUH6 | 430 |
| PRDM4 | TCP11L2 | Q8N4U5 | 428 |
| PRDM4 | VIPAS39 | Q9H9C1 | 428 |
| PRDM4 | PRDM2 | Q13029 | 415 |
| PRDM4 | SETD3 | Q86TU7 | 414 |
| PRDM4 | SETD5 | Q9C0A6 | 401 |
| PRDM4 | SETD1B | Q9UPS6 | 397 |
| PRDM4 | POLR3B | Q9NW08 | 394 |
| PRDM4 | SMYD2 | Q9NRG4 | 394 |
IntAct
22 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PRDM4 | MSRB3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRDM4 | CTNNBL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MSRB3 | PRDM4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CTNNBL1 | PRDM4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NCS1 | PRDM4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRDM4 | PRDM4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| EMX1 | PRDM4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PRDM4 | SERTAD1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| EIF4E | PRDM4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CFTR | PRDM4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SMAD3 | PRDM4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PRDM4 | DBT | psi-mi:“MI:0914”(association) | 0.350 |
| FMR1 | PRDM4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NCS1 | PRDM4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PRDM4 | msbA | psi-mi:“MI:0915”(physical association) | 0.000 |
| RCAN1 | PRDM4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RUNX1 | PRDM4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| DYRK1A | PRDM4 | psi-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):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 93 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1571 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:107739381:A:AC | donor_gain | 1.0000 |
| 12:107739382:C:CC | donor_gain | 1.0000 |
| 12:107742358:C:CT | acceptor_gain | 1.0000 |
| 12:107742360:C:CT | acceptor_gain | 1.0000 |
| 12:107742361:A:C | acceptor_gain | 1.0000 |
| 12:107742363:T:C | acceptor_gain | 1.0000 |
| 12:107743278:TATAT:T | acceptor_gain | 1.0000 |
| 12:107743280:TAT:T | acceptor_gain | 1.0000 |
| 12:107743281:ATC:A | acceptor_loss | 1.0000 |
| 12:107743282:TCTGC:T | acceptor_loss | 1.0000 |
| 12:107743283:C:CC | acceptor_gain | 1.0000 |
| 12:107743283:C:CG | acceptor_loss | 1.0000 |
| 12:107743284:T:A | acceptor_loss | 1.0000 |
| 12:107744538:CTGA:C | donor_loss | 1.0000 |
| 12:107744539:TGA:T | donor_loss | 1.0000 |
| 12:107744541:ACC:A | donor_loss | 1.0000 |
| 12:107744542:C:CT | donor_loss | 1.0000 |
| 12:107744545:T:A | donor_gain | 1.0000 |
| 12:107744562:G:GA | donor_gain | 1.0000 |
| 12:107744659:CAC:C | acceptor_gain | 1.0000 |
| 12:107746274:CCAA:C | donor_gain | 1.0000 |
| 12:107746421:CACC:C | acceptor_gain | 1.0000 |
| 12:107746423:CC:C | acceptor_gain | 1.0000 |
| 12:107746424:CC:C | acceptor_gain | 1.0000 |
| 12:107756830:ACCT:A | donor_loss | 1.0000 |
| 12:107756831:C:T | donor_loss | 1.0000 |
| 12:107756884:T:TA | donor_gain | 1.0000 |
| 12:107756961:TCATC:T | acceptor_gain | 1.0000 |
| 12:107756962:CATC:C | acceptor_gain | 1.0000 |
| 12:107756962:CATCC:C | acceptor_gain | 1.0000 |
AlphaMissense
5324 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:107734382:A:G | L745P | 1.000 |
| 12:107734422:A:G | C732R | 1.000 |
| 12:107734456:A:C | H720Q | 1.000 |
| 12:107734456:A:T | H720Q | 1.000 |
| 12:107734506:A:G | C704R | 1.000 |
| 12:107739410:A:G | L689P | 1.000 |
| 12:107739450:A:G | C676R | 1.000 |
| 12:107739484:G:C | H664Q | 1.000 |
| 12:107739484:G:T | H664Q | 1.000 |
| 12:107739494:A:G | L661P | 1.000 |
| 12:107739511:G:C | F655L | 1.000 |
| 12:107739511:G:T | F655L | 1.000 |
| 12:107739512:A:G | F655S | 1.000 |
| 12:107739513:A:G | F655L | 1.000 |
| 12:107739534:A:G | C648R | 1.000 |
| 12:107740950:A:C | H640Q | 1.000 |
| 12:107740950:A:T | H640Q | 1.000 |
| 12:107740952:G:C | H640D | 1.000 |
| 12:107740960:A:G | L637P | 1.000 |
| 12:107740962:G:C | H636Q | 1.000 |
| 12:107740962:G:T | H636Q | 1.000 |
| 12:107740964:G:C | H636D | 1.000 |
| 12:107740964:G:T | H636N | 1.000 |
| 12:107740972:A:G | L633P | 1.000 |
| 12:107740989:A:C | F627L | 1.000 |
| 12:107740989:A:T | F627L | 1.000 |
| 12:107740990:A:G | F627S | 1.000 |
| 12:107740991:A:G | F627L | 1.000 |
| 12:107741001:A:C | C623W | 1.000 |
| 12:107741003:A:G | C623R | 1.000 |
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):
| Study | Trait | p-value |
|---|---|---|
| GCST002481_2 | Acne (severe) | 5.000000e-06 |
| GCST007561_70 | Sleep duration | 3.000000e-08 |
| GCST011494_60 | Daytime nap | 1.000000e-14 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007828 | daytime 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.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | increases expression | 3 |
| bisphenol A | affects cotreatment, increases methylation, decreases expression | 2 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| geraniol | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Carbamazepine | affects expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| N-Nitrosopyrrolidine | increases expression | 1 |
| Piroxicam | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
| Paclitaxel | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Acrylamide | increases expression | 1 |
| Particulate Matter | increases expression, increases abundance | 1 |
Cellosaurus cell lines
4 cell lines: 3 embryonic stem cell, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A5Q5 | SEES3-1V human PRDM4, clone1 | Embryonic stem cell | Male |
| CVCL_A5Q6 | SEES3-1V human PRDM4, clone2 | Embryonic stem cell | Male |
| CVCL_A5Q7 | SEES3-1V human PRDM4, clone3 | Embryonic stem cell | Male |
| CVCL_XV74 | HEK293 eGFP-PRDM4 | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.