ZNF420
gene geneOn this page
Also known as FLJ32191
Summary
ZNF420 (zinc finger protein 420, HGNC:20649) is a protein-coding gene on chromosome 19q13.12, encoding Zinc finger protein 420 (Q8TAQ5). May be involved in transcriptional regulation.
The protein encoded by this gene is a KRAB-type zinc finger protein that negatively-regulates p53-mediated apoptosis. Under stress conditions, the encoded protein is phosphorylated by ATM and dissociates from p53, which activates p53 and initiates apoptosis.
Source: NCBI Gene 147923 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 72 total
- MANE Select transcript:
NM_144689
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20649 |
| Approved symbol | ZNF420 |
| Name | zinc finger protein 420 |
| Location | 19q13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ32191 |
| Ensembl gene | ENSG00000197050 |
| Ensembl biotype | protein_coding |
| OMIM | 617216 |
| Entrez | 147923 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 11 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000304239, ENST00000337995, ENST00000585862, ENST00000586540, ENST00000587029, ENST00000587082, ENST00000589245, ENST00000589461, ENST00000590332, ENST00000876809, ENST00000876810, ENST00000876811, ENST00000960579, ENST00000960580
RefSeq mRNA: 10 — MANE Select: NM_144689
NM_001329515, NM_001329516, NM_001329517, NM_001329518, NM_001329519, NM_001329520, NM_001329521, NM_001329522, NM_001329524, NM_144689
CCDS: CCDS12498, CCDS86757
Canonical transcript exons
ENST00000337995 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001145505 | 37089039 | 37089127 |
| ENSE00001145513 | 37080345 | 37080388 |
| ENSE00001332353 | 37127128 | 37130368 |
| ENSE00001615902 | 37090995 | 37091121 |
| ENSE00002778816 | 37078433 | 37078570 |
Expression profiles
Bgee: expression breadth ubiquitous, 258 present calls, max score 95.50.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.4377 / max 66.4794, expressed in 1317 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 175540 | 3.4267 | 1316 |
| 175538 | 0.0110 | 4 |
Top tissues by expression
258 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| middle temporal gyrus | UBERON:0002771 | 95.50 | gold quality |
| endothelial cell | CL:0000115 | 94.54 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 94.14 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 93.91 | gold quality |
| oviduct epithelium | UBERON:0004804 | 93.71 | gold quality |
| sperm | CL:0000019 | 92.85 | gold quality |
| medial globus pallidus | UBERON:0002477 | 91.16 | gold quality |
| buccal mucosa cell | CL:0002336 | 90.27 | gold quality |
| globus pallidus | UBERON:0001875 | 89.95 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.37 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 87.24 | gold quality |
| parietal pleura | UBERON:0002400 | 87.06 | gold quality |
| amniotic fluid | UBERON:0000173 | 87.00 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 86.56 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.24 | gold quality |
| secondary oocyte | CL:0000655 | 85.97 | gold quality |
| primary visual cortex | UBERON:0002436 | 85.93 | gold quality |
| cortical plate | UBERON:0005343 | 85.45 | gold quality |
| kidney epithelium | UBERON:0004819 | 85.28 | silver quality |
| visceral pleura | UBERON:0002401 | 85.23 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 85.04 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 85.01 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 84.75 | gold quality |
| occipital lobe | UBERON:0002021 | 84.67 | gold quality |
| embryo | UBERON:0000922 | 84.57 | gold quality |
| ganglionic eminence | UBERON:0004023 | 84.57 | gold quality |
| eye | UBERON:0000970 | 84.53 | gold quality |
| right testis | UBERON:0004534 | 84.43 | gold quality |
| tendon | UBERON:0000043 | 84.18 | gold quality |
| testis | UBERON:0000473 | 83.97 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.28 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
52 targeting ZNF420, 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-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| 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-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-6744-5P | 99.93 | 66.82 | 748 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-200A-5P | 99.76 | 69.10 | 949 |
| HSA-MIR-200B-5P | 99.76 | 69.05 | 948 |
| HSA-MIR-1255A | 99.74 | 68.09 | 744 |
| HSA-MIR-1255B-5P | 99.74 | 68.16 | 741 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-548M | 99.70 | 68.87 | 1749 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
| HSA-MIR-513C-5P | 99.50 | 68.42 | 1730 |
| HSA-MIR-514B-5P | 99.50 | 68.19 | 1766 |
| HSA-MIR-4666A-5P | 99.41 | 69.72 | 1887 |
| HSA-MIR-372-5P | 99.41 | 69.11 | 2299 |
| HSA-MIR-520F-5P | 99.34 | 70.40 | 1632 |
Literature-anchored findings (GeneRIF, showing 6)
- Apak (ZNF420 or FLJ32191) is a negative regulator of p53-mediated apoptosis. (PMID:19377469)
- four of seven types of DNA damage signals examined resulted in significant Apak phosphorylation and dissociation of Apak from p53, releasing the inhibition of p53 transcriptional activity (PMID:19629643)
- Apak is differentially regulated in the ARF and ATM-dependent manner in response to oncogenic stress and DNA damage, respectively. (PMID:20713054)
- Apak competes with p53 for binding to inhibit p53AIP1 expression. (PMID:22334068)
- ARF coordinates Apak to regulate ribosome biogenesis upon cellular stress. (PMID:25691462)
- Functional importance of H3K9me3 in hypoxia, apoptosis and repression of APAK. (PMID:25961932)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zgc:66472 | ENSDARG00000075916 |
| mus_musculus | Zfp780b | ENSMUSG00000063047 |
| rattus_norvegicus | Zfp780b-ps1 | ENSRNOG00000018936 |
| rattus_norvegicus | Zfp780b | ENSRNOG00000029805 |
| drosophila_melanogaster | mld | FBGN0263490 |
Paralogs (36): ZNF302 (ENSG00000089335), ZNF184 (ENSG00000096654), CTCF (ENSG00000102974), ZNF574 (ENSG00000105732), ZBTB24 (ENSG00000112365), ZNF142 (ENSG00000115568), CTCFL (ENSG00000124092), ZNF473 (ENSG00000142528), ZNF827 (ENSG00000151612), ZNF689 (ENSG00000156853), ZNF208 (ENSG00000160321), ZNF91 (ENSG00000167232), ZNF526 (ENSG00000167625), ZNF764 (ENSG00000169951), ZNF747 (ENSG00000169955), ZNF282 (ENSG00000170265), ZNF160 (ENSG00000170949), ZNF497 (ENSG00000174586), ZBTB34 (ENSG00000177125), ZNF771 (ENSG00000179965), ZNF48 (ENSG00000180035), ZNF594 (ENSG00000180626), ZBTB37 (ENSG00000185278), ZFP92 (ENSG00000189420), ZNF107 (ENSG00000196247), ZNF729 (ENSG00000196350), ZNF569 (ENSG00000196437), ZNF785 (ENSG00000197162), ZNF665 (ENSG00000197497), ZNF181 (ENSG00000197841), ZNF347 (ENSG00000197937), ZNF84 (ENSG00000198040), ZBTB48 (ENSG00000204859), ZNF845 (ENSG00000213799), ZNF99 (ENSG00000213973), ZNF688 (ENSG00000229809)
Protein
Protein identifiers
Zinc finger protein 420 — Q8TAQ5 (reviewed: Q8TAQ5)
All UniProt accessions (7): Q8TAQ5, K7EJW2, K7ELF6, K7EPG0, K7EQC9, K7ERS3, K7ESJ1
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in transcriptional regulation.
Subcellular location. Nucleus.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TAQ5-1 | 1 | yes |
| Q8TAQ5-2 | 2 |
RefSeq proteins (10): NP_001316444, NP_001316445, NP_001316446, NP_001316447, NP_001316448, NP_001316449, NP_001316450, NP_001316451, NP_001316453, NP_653290* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001909 | KRAB | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036051 | KRAB_dom_sf | Homologous_superfamily |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR050589 | Ikaros_C2H2-ZF | Family |
Pfam: PF00096, PF01352, PF13465
UniProt features (24 total): zinc finger region 19, splice variant 2, chain 1, domain 1, cross-link 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TAQ5-F1 | 77.84 | 0.25 |
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): 298
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
| R-HSA-6803204 | TP53 Regulates Transcription of Genes Involved in Cytochrome C Release |
MSigDB gene sets: 94 (showing top):
GGAMTNNNNNTCCY_UNKNOWN, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, TGGAAA_NFAT_Q4_01, STAT1_02, YKACATTT_UNKNOWN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, CHENG_IMPRINTED_BY_ESTRADIOL, STAT1_03, GRYDER_PAX3FOXO1_ENHANCERS_KO_DOWN, MYC_UP.V1_UP, REACTOME_TRANSCRIPTIONAL_REGULATION_BY_TP53, REACTOME_TP53_REGULATES_TRANSCRIPTION_OF_CELL_DEATH_GENES, REACTOME_TP53_REGULATES_TRANSCRIPTION_OF_GENES_INVOLVED_IN_CYTOCHROME_C_RELEASE, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY
GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (6): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase II Transcription | 1 |
| TP53 Regulates Transcription of Cell Death Genes | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transition metal ion binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
468 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF420 | ATM | Q13315 | 532 |
| ZNF420 | PRDM2 | Q13029 | 393 |
| ZNF420 | RB1CC1 | Q8TDY2 | 370 |
| ZNF420 | TP53AIP1 | Q9HCN2 | 351 |
| ZNF420 | HHLA1 | C9JL84 | 323 |
| ZNF420 | SETDB1 | Q15047 | 319 |
| ZNF420 | KATNBL1 | Q9H079 | 317 |
| ZNF420 | FAM120A2P | Q5T035 | 305 |
| ZNF420 | TRIM28 | Q13263 | 296 |
| ZNF420 | C1orf159 | Q96HA4 | 296 |
| ZNF420 | OR10AG1 | Q8NH19 | 291 |
| ZNF420 | ITPRID2 | P28290 | 288 |
| ZNF420 | ZFHX2 | Q9C0A1 | 280 |
| ZNF420 | TTLL2 | Q9BWV7 | 276 |
| ZNF420 | KDM4E | B2RXH2 | 274 |
IntAct
46 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZNF420 | CDKN2A | psi-mi:“MI:0407”(direct interaction) | 0.640 |
| CDKN2A | ZNF420 | psi-mi:“MI:0915”(physical association) | 0.640 |
| ZNF420 | CDKN2A | psi-mi:“MI:0403”(colocalization) | 0.640 |
| ZNF420 | CDKN2A | psi-mi:“MI:0915”(physical association) | 0.640 |
| ZNF420 | TP53 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| TP53 | ZNF420 | psi-mi:“MI:0915”(physical association) | 0.590 |
| ZNF420 | TP53 | psi-mi:“MI:0914”(association) | 0.590 |
| ZNF420 | TP53 | psi-mi:“MI:0915”(physical association) | 0.590 |
| AIRIM | ZNF420 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-7 | ZNF420 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF420 | CEP19 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF420 | EXOSC5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF420 | AIRIM | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF76 | ZNF420 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF420 | H2AX | psi-mi:“MI:0914”(association) | 0.530 |
| RBM4 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF420 | CYP51A1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SLC1A7 | ZNF420 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF420 | TNFRSF1B | psi-mi:“MI:0915”(physical association) | 0.370 |
| TRIM28 | ZNF420 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF420 | CYP4V2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CDK2AP1 | ZNF420 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HAX1 | ZNF420 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF420 | ECE1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ECE1 | ZNF420 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (47): MDM2 (Affinity Capture-Western), ZNF420 (Affinity Capture-Western), CDKN2A (Affinity Capture-Western), ZNF420 (Reconstituted Complex), ZNF420 (Reconstituted Complex), UBE2I (Affinity Capture-Western), ZNF420 (Affinity Capture-Western), ZNF420 (Reconstituted Complex), SENP1 (Affinity Capture-Western), SAV1 (Affinity Capture-MS), ZNF420 (Affinity Capture-MS), STK3 (Affinity Capture-MS), H2AFX (Affinity Capture-MS), ZNF420 (Proximity Label-MS), ZNF420 (Affinity Capture-MS)
ESM2 similar proteins: A2VDQ7, A6NNF4, A8MQ14, A8MTY0, E9QAG8, O75290, O75373, P08043, P0CJ79, P10751, P17017, P17027, P17039, P35789, P51522, P51523, Q08AN1, Q14585, Q14587, Q3SYV7, Q3ZCX4, Q4R4C7, Q52M93, Q5MCW4, Q5R5U3, Q5R8X1, Q5R9F0, Q5SXM1, Q6ECI4, Q6JLC9, Q6P3V2, Q6P5C7, Q6ZN57, Q86UE3, Q86XN6, Q86YE8, Q8C827, Q8IYB9, Q8N4W9, Q8N7M2
Diamond homologs: A0A1W2PQL4, A2RRD8, A2VDQ7, A6NHJ4, A6NK75, A6NN14, A6NNF4, A6NP11, B4DX44, B4DXR9, E9PW05, O14628, O43345, O75290, O75346, O75373, O75820, P0CB33, P0CJ79, P0DKX0, P10755, P17032, P17035, P52738, Q02386, Q03923, Q03936, Q05481, Q08AN1, Q09FC8, Q0VGE8, Q14586, Q14593, Q147U1, Q15928, Q3MIS6, Q3SXZ3, Q494X3, Q4R6C2, Q5HY98
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ZNF420 | “down-regulates activity” | TP53BP1 | binding |
| ATM | “down-regulates activity” | ZNF420 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
72 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 69 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1109 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:37080336:T:TA | acceptor_gain | 1.0000 |
| 19:37127119:A:AG | acceptor_gain | 1.0000 |
| 19:37127120:T:G | acceptor_gain | 1.0000 |
| 19:37127124:TCAG:T | acceptor_loss | 1.0000 |
| 19:37127124:TCAGA:T | acceptor_gain | 1.0000 |
| 19:37127125:CAGA:C | acceptor_gain | 1.0000 |
| 19:37127126:A:AG | acceptor_gain | 1.0000 |
| 19:37127127:G:GC | acceptor_gain | 1.0000 |
| 19:37127127:GA:G | acceptor_gain | 1.0000 |
| 19:37127127:GAC:G | acceptor_gain | 1.0000 |
| 19:37127127:GACT:G | acceptor_gain | 1.0000 |
| 19:37127127:GACTT:G | acceptor_gain | 1.0000 |
| 19:37078566:TCAAG:T | donor_loss | 0.9900 |
| 19:37078567:CAAGG:C | donor_loss | 0.9900 |
| 19:37078568:AAGG:A | donor_loss | 0.9900 |
| 19:37078569:AGG:A | donor_loss | 0.9900 |
| 19:37078570:GGTAG:G | donor_loss | 0.9900 |
| 19:37078572:T:A | donor_loss | 0.9900 |
| 19:37080389:G:GA | donor_loss | 0.9900 |
| 19:37080390:T:A | donor_loss | 0.9900 |
| 19:37090988:GTTTC:G | acceptor_loss | 0.9900 |
| 19:37090990:TTCA:T | acceptor_loss | 0.9900 |
| 19:37090992:CA:C | acceptor_loss | 0.9900 |
| 19:37090993:A:AG | acceptor_gain | 0.9900 |
| 19:37090994:G:GG | acceptor_gain | 0.9900 |
| 19:37090994:GA:G | acceptor_gain | 0.9900 |
| 19:37090994:GAA:G | acceptor_gain | 0.9900 |
| 19:37091117:ACTAG:A | donor_loss | 0.9900 |
| 19:37091120:AG:A | donor_loss | 0.9900 |
| 19:37091121:GG:G | donor_loss | 0.9900 |
AlphaMissense
4581 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:37127601:T:C | F204L | 0.998 |
| 19:37127603:T:A | F204L | 0.998 |
| 19:37127603:T:G | F204L | 0.998 |
| 19:37128693:T:C | F568L | 0.998 |
| 19:37128695:T:A | F568L | 0.998 |
| 19:37128695:T:G | F568L | 0.998 |
| 19:37128777:T:C | F596L | 0.997 |
| 19:37128779:T:A | F596L | 0.997 |
| 19:37128779:T:G | F596L | 0.997 |
| 19:37128861:T:C | F624L | 0.997 |
| 19:37128863:T:A | F624L | 0.997 |
| 19:37128863:T:G | F624L | 0.997 |
| 19:37127517:T:C | F176L | 0.996 |
| 19:37127519:T:A | F176L | 0.996 |
| 19:37127519:T:G | F176L | 0.996 |
| 19:37128525:T:C | F512L | 0.996 |
| 19:37128527:T:A | F512L | 0.996 |
| 19:37128527:T:G | F512L | 0.996 |
| 19:37127685:T:C | F232L | 0.995 |
| 19:37127687:T:A | F232L | 0.995 |
| 19:37127687:T:G | F232L | 0.995 |
| 19:37128105:T:C | F372L | 0.995 |
| 19:37128107:T:A | F372L | 0.995 |
| 19:37128107:T:G | F372L | 0.995 |
| 19:37128273:T:C | F428L | 0.995 |
| 19:37128275:T:A | F428L | 0.995 |
| 19:37128275:T:G | F428L | 0.995 |
| 19:37128727:G:C | R579P | 0.995 |
| 19:37127937:T:C | F316L | 0.994 |
| 19:37127939:T:A | F316L | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000046487 (19:37118271 T>A), RS1000067100 (19:37072655 G>T), RS1000071744 (19:37099350 C>T), RS1000076432 (19:37044223 C>T), RS1000109660 (19:37086108 G>A,T), RS1000120577 (19:37126095 C>G,T), RS1000129685 (19:37016953 C>A), RS1000197929 (19:37079971 G>A,T), RS1000236552 (19:37023659 C>T), RS1000238610 (19:37092803 C>G), RS1000260103 (19:37024929 C>T), RS1000264723 (19:37058962 G>A), RS1000270097 (19:37079641 G>A), RS1000285311 (19:37012991 C>A,G,T), RS1000328802 (19:37038062 A>G)
Disease associations
OMIM: gene MIM:617216 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004639_16 | Prudent dietary pattern | 3.000000e-06 |
| GCST90000025_565 | Appendicular lean mass | 8.000000e-19 |
| GCST90002382_463 | Eosinophil percentage of white cells | 9.000000e-16 |
| GCST90002400_283 | Plateletcrit | 1.000000e-09 |
| GCST90020024_566 | A body shape index | 6.000000e-09 |
| GCST90020025_1646 | Waist-to-hip ratio adjusted for BMI | 5.000000e-09 |
| GCST90020027_317 | Waist-hip index | 3.000000e-08 |
| GCST90020028_1330 | Hip circumference adjusted for BMI | 2.000000e-08 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008111 | diet measurement |
| EFO:0004980 | appendicular lean mass |
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0007985 | platelet crit |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008039 | BMI-adjusted hip circumference |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
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 |
|---|---|---|
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Valproic Acid | decreases expression, increases expression | 2 |
| Particulate Matter | increases expression, decreases expression, increases abundance | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| oxybenzone | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | decreases methylation | 1 |
| sodium arsenite | affects expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Amiodarone | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Succimer | affects cotreatment, decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Urethane | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Magnetite Nanoparticles | affects cotreatment, decreases expression | 1 |
Clinical trials (associated diseases)
11 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03414970 | PHASE3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| NCT00461344 | PHASE2 | TERMINATED | Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer |
| NCT07499999 | PHASE2 | NOT_YET_RECRUITING | Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer |
| NCT00637364 | PHASE1/PHASE2 | SUSPENDED | High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain |
| NCT02779855 | PHASE1/PHASE2 | COMPLETED | Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer |
| NCT01753908 | EARLY_PHASE1 | COMPLETED | Broccoli Sprout Extract in Treating Patients With Breast Cancer |
| NCT01796041 | EARLY_PHASE1 | COMPLETED | Intraoperative Imaging of Breast Cancer With Indocyanine Green |
| NCT01208974 | Not specified | ACTIVE_NOT_RECRUITING | Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction |
| NCT01875198 | Not specified | TERMINATED | Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer |
| NCT03543397 | Not specified | UNKNOWN | MRI in Ductal Carcinoma in Situ (DCIS) |
| NCT03834532 | Not specified | COMPLETED | Living Well After Breast Surgery |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.