ZNF473
gene geneOn this page
Also known as KIAA1141DKFZP434N043HZFP100
Summary
ZNF473 (zinc finger protein 473, HGNC:23239) is a protein-coding gene on chromosome 19q13.33, encoding Zinc finger protein 473 (Q8WTR7). Involved in histone 3’-end pre-mRNA processing by associating with U7 snRNP and interacting with SLBP/pre-mRNA complex.
This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein, a component of the U7 snRNP complex, plays a role in histone 3’-end pre-mRNA processing and may be required for cell cycle progression to S phase. Expression level and methylation status of this gene may be correlated with bone mineral density.
Source: NCBI Gene 25888 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 130 total
- MANE Select transcript:
NM_015428
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23239 |
| Approved symbol | ZNF473 |
| Name | zinc finger protein 473 |
| Location | 19q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1141, DKFZP434N043, HZFP100 |
| Ensembl gene | ENSG00000142528 |
| Ensembl biotype | protein_coding |
| OMIM | 617908 |
| Entrez | 25888 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 8 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000270617, ENST00000391821, ENST00000445728, ENST00000594968, ENST00000595661, ENST00000598802, ENST00000598809, ENST00000599155, ENST00000601364, ENST00000892789
RefSeq mRNA: 3 — MANE Select: NM_015428
NM_001006656, NM_001308424, NM_015428
CCDS: CCDS33077, CCDS77335
Canonical transcript exons
ENST00000270617 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003052706 | 50026005 | 50026122 |
| ENSE00003692393 | 50041730 | 50041819 |
| ENSE00003892358 | 50039161 | 50039287 |
| ENSE00003895320 | 50030892 | 50031091 |
| ENSE00003895707 | 50044670 | 50048776 |
Expression profiles
Bgee: expression breadth ubiquitous, 212 present calls, max score 97.56.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.8294 / max 130.8146, expressed in 1711 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 177119 | 8.0189 | 1694 |
| 177122 | 0.3776 | 130 |
| 177120 | 0.3273 | 166 |
| 177118 | 0.0599 | 22 |
| 177121 | 0.0458 | 11 |
Top tissues by expression
278 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 97.56 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 89.34 | gold quality |
| right testis | UBERON:0004534 | 88.96 | gold quality |
| left testis | UBERON:0004533 | 88.94 | gold quality |
| testis | UBERON:0000473 | 88.48 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.32 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 85.32 | gold quality |
| triceps brachii | UBERON:0001509 | 84.93 | gold quality |
| gluteal muscle | UBERON:0002000 | 84.45 | gold quality |
| sperm | CL:0000019 | 84.08 | gold quality |
| male germ cell | CL:0000015 | 84.05 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 80.83 | gold quality |
| adenohypophysis | UBERON:0002196 | 80.74 | gold quality |
| parotid gland | UBERON:0001831 | 80.22 | gold quality |
| pituitary gland | UBERON:0000007 | 80.11 | gold quality |
| adult organism | UBERON:0007023 | 79.93 | gold quality |
| ventricular zone | UBERON:0003053 | 79.92 | gold quality |
| cortical plate | UBERON:0005343 | 79.64 | gold quality |
| islet of Langerhans | UBERON:0000006 | 78.91 | gold quality |
| ganglionic eminence | UBERON:0004023 | 78.19 | gold quality |
| caudate nucleus | UBERON:0001873 | 78.03 | gold quality |
| nucleus accumbens | UBERON:0001882 | 78.03 | gold quality |
| right lung | UBERON:0002167 | 77.62 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 77.41 | gold quality |
| oocyte | CL:0000023 | 77.28 | gold quality |
| left uterine tube | UBERON:0001303 | 77.04 | gold quality |
| pancreatic ductal cell | CL:0002079 | 76.98 | silver quality |
| stromal cell of endometrium | CL:0002255 | 76.39 | gold quality |
| granulocyte | CL:0000094 | 76.26 | gold quality |
| putamen | UBERON:0001874 | 76.09 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.14 |
| E-GEOD-124858 | no | 123.29 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
75 targeting ZNF473, 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-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| 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-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-7845-5P | 99.88 | 64.88 | 771 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-372-3P | 99.83 | 70.58 | 1691 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-1825 | 99.72 | 68.11 | 1089 |
Literature-anchored findings (GeneRIF, showing 1)
- ZFP100 is the limiting factor for histone pre-mRNA processing in vivo. (PMID:16914750)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zgc:66472 | ENSDARG00000075916 |
| mus_musculus | Zfp473 | ENSMUSG00000048012 |
| rattus_norvegicus | Zfp473 | ENSRNOG00000026572 |
| drosophila_melanogaster | mld | FBGN0263490 |
Paralogs (36): ZNF302 (ENSG00000089335), ZNF184 (ENSG00000096654), CTCF (ENSG00000102974), ZNF574 (ENSG00000105732), ZBTB24 (ENSG00000112365), ZNF142 (ENSG00000115568), CTCFL (ENSG00000124092), 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), ZNF420 (ENSG00000197050), ZNF785 (ENSG00000197162), ZNF665 (ENSG00000197497), ZNF181 (ENSG00000197841), ZNF347 (ENSG00000197937), ZNF84 (ENSG00000198040), ZBTB48 (ENSG00000204859), ZNF845 (ENSG00000213799), ZNF99 (ENSG00000213973), ZNF688 (ENSG00000229809)
Protein
Protein identifiers
Zinc finger protein 473 — Q8WTR7 (reviewed: Q8WTR7)
Alternative names: Zinc finger protein 100 homolog
All UniProt accessions (6): Q8WTR7, F8WEC7, M0QZY7, M0R032, M0R123, M0R2N2
UniProt curated annotations — full annotation on UniProt →
Function. Involved in histone 3’-end pre-mRNA processing by associating with U7 snRNP and interacting with SLBP/pre-mRNA complex. Increases histone 3’-end pre-mRNA processing but has no effect on U7 snRNP levels, when overexpressed. Required for cell cycle progression from G1 to S phases.
Subunit / interactions. Interacts with the SLBP/pre-mRNA complex but not with SLBP alone. Interacts with LSM11 in a U7 snRNP-dependent manner.
Subcellular location. Nucleus.
Domain organisation. The C2H2-type zinc finger 2 to 6 are necessary and sufficient for discrete Cajal bodies localization. The C2H2-type zinc finger 5 to 10 are necessary and sufficient for interaction with LSM11. The C2H2-type zinc finger 2 to 8 are necessary for interaction with the SLBP/RNA complex in the histone pre-mRNAs. The C2H2-type zinc finger 2 to 10 confer activity in histone pre-mRNA processing.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
RefSeq proteins (3): NP_001006657, NP_001295353, NP_056243* (*=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 |
Pfam: PF00096, PF01352
UniProt features (96 total): strand 27, zinc finger region 20, helix 18, turn 9, sequence variant 6, cross-link 5, region of interest 4, compositionally biased region 3, sequence conflict 2, chain 1, domain 1
Structure
Experimental structures (PDB)
15 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2EMB | SOLUTION NMR | |
| 2EMC | SOLUTION NMR | |
| 2EME | SOLUTION NMR | |
| 2EOU | SOLUTION NMR | |
| 2EOX | SOLUTION NMR | |
| 2EOY | SOLUTION NMR | |
| 2EOZ | SOLUTION NMR | |
| 2YRH | SOLUTION NMR | |
| 2YRJ | SOLUTION NMR | |
| 2YSV | SOLUTION NMR | |
| 2YTD | SOLUTION NMR | |
| 2YTE | SOLUTION NMR | |
| 2YTT | SOLUTION NMR | |
| 2YU5 | SOLUTION NMR | |
| 9AZI | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WTR7-F1 | 60.31 | 0.01 |
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 (5): 148, 419, 549, 558, 635
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-111367 | SLBP independent Processing of Histone Pre-mRNAs |
| R-HSA-212436 | Generic Transcription Pathway |
| R-HSA-73856 | RNA Polymerase II Transcription Termination |
| R-HSA-77588 | SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs |
MSigDB gene sets: 130 (showing top):
GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_MRNA_3_END_PROCESSING, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_HISTONE_MRNA_METABOLIC_PROCESS, FISCHER_DREAM_TARGETS, BROWNE_HCMV_INFECTION_10HR_UP, REACTOME_METABOLISM_OF_RNA, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, GOCC_CAJAL_BODY, GOCC_NUCLEAR_BODY, GOCC_RIBONUCLEOPROTEIN_GRANULE, XU_GH1_EXOGENOUS_TARGETS_DN, NUYTTEN_NIPP1_TARGETS_DN, GAZDA_DIAMOND_BLACKFAN_ANEMIA_ERYTHROID_DN
GO Biological Process (3): regulation of transcription by RNA polymerase II (GO:0006357), mRNA 3’-end processing by stem-loop binding and cleavage (GO:0006398), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (4): DNA binding (GO:0003677), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), Cajal body (GO:0015030)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Processing of Capped Intronless Pre-mRNA | 2 |
| RNA Polymerase II Transcription | 2 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| histone mRNA metabolic process | 1 |
| mRNA 3’-end processing | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| nuclear ribonucleoprotein granule | 1 |
Protein interactions and networks
STRING
700 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF473 | LSM11 | P83369 | 877 |
| ZNF473 | SLBP | Q14493 | 854 |
| ZNF473 | LSM10 | Q969L4 | 781 |
| ZNF473 | SYMPK | Q92797 | 686 |
| ZNF473 | SNRPD1 | P13641 | 650 |
| ZNF473 | EDC3 | Q96F86 | 540 |
| ZNF473 | SNRPF | P62306 | 511 |
| ZNF473 | OR4N5 | Q8IXE1 | 450 |
| ZNF473 | CPSF2 | Q9P2I0 | 445 |
| ZNF473 | CPSF3 | Q9UKF6 | 435 |
| ZNF473 | ATXN2 | Q99700 | 430 |
| ZNF473 | OR4K14 | Q8NGD5 | 418 |
| ZNF473 | SDR39U1 | Q9NRG7 | 414 |
| ZNF473 | OR5L1 | Q8NGL2 | 414 |
| ZNF473 | DDX6 | P26196 | 409 |
IntAct
79 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRIM41 | ZNF473 | psi-mi:“MI:0915”(physical association) | 0.740 |
| ZNF473 | TRIM41 | psi-mi:“MI:0915”(physical association) | 0.740 |
| ZNF473 | KRTAP10-8 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRTAP10-8 | ZNF473 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZNF792 | ZNF473 | psi-mi:“MI:0915”(physical association) | 0.670 |
| AEN | ZNF473 | psi-mi:“MI:0915”(physical association) | 0.670 |
| GPATCH2L | ZNF473 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ZNF473 | AEN | psi-mi:“MI:0915”(physical association) | 0.670 |
| ZNF473 | ZNF792 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ZNF473 | rnps1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZSCAN12 | ZNF473 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF473 | ZNF250 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLK2 | ZNF473 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-9 | ZNF473 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DHX57 | ZNF473 | psi-mi:“MI:0915”(physical association) | 0.560 |
| rnps1 | ZNF473 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (32): ZNF473 (Two-hybrid), ZNF473 (Two-hybrid), ZNF473 (Two-hybrid), GPATCH2L (Two-hybrid), ZNF250 (Two-hybrid), AEN (Two-hybrid), DHX57 (Two-hybrid), ZNF792 (Two-hybrid), KRTAP10-9 (Two-hybrid), KRTAP10-8 (Two-hybrid), TRIM41 (Two-hybrid), ZNF473 (Two-hybrid), ZNF473 (Two-hybrid), ZNF473 (Two-hybrid), ZNF473 (Two-hybrid)
ESM2 similar proteins: A1L1L7, A3KN36, D3ZVT0, O43296, P08042, P13682, P16373, P17023, P17097, P52738, P85977, Q02975, Q12901, Q14590, Q14592, Q2M3W8, Q2VY69, Q4V8A8, Q571J5, Q5CZA5, Q5R7I8, Q5RB33, Q5RBX0, Q61751, Q61967, Q6GQR8, Q6PF04, Q6ZNG0, Q6ZS27, Q86Y25, Q8BFS8, Q8BQC8, Q8IZ26, Q8N782, Q8N9Z0, Q8R1D1, Q8TF47, Q8WTR7, Q96LW1, Q9BS31
Diamond homologs: A0A9P4XV22, A1L1L7, A1YEQ3, A1YFW6, A2T6W2, B2KFW1, P08045, P17097, P18713, P18715, P18720, P18725, P18726, P18735, P18736, P18737, P18738, P18741, P18742, P18743, P18753, P18853, P21506, P51815, Q15072, Q28151, Q3KP31, Q5RBX0, Q5RBY9, Q5RFP4, Q6A085, Q6P1L6, Q6P9G9, Q7TNU6, Q8BGV5, Q8CF60, Q8R1D1, Q8WTR7, Q9BSG1, Q9UEG4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
130 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 105 |
| Likely benign | 20 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
926 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:50026026:G:GT | donor_gain | 1.0000 |
| 19:50039159:A:AG | acceptor_gain | 1.0000 |
| 19:50039159:AG:A | acceptor_gain | 1.0000 |
| 19:50039159:AGGA:A | acceptor_loss | 1.0000 |
| 19:50039160:G:GA | acceptor_gain | 1.0000 |
| 19:50039160:G:GC | acceptor_loss | 1.0000 |
| 19:50039160:GG:G | acceptor_gain | 1.0000 |
| 19:50039160:GGA:G | acceptor_gain | 1.0000 |
| 19:50039160:GGAA:G | acceptor_gain | 1.0000 |
| 19:50039160:GGAAT:G | acceptor_gain | 1.0000 |
| 19:50039283:GCTGG:G | donor_gain | 1.0000 |
| 19:50039284:CTGG:C | donor_gain | 1.0000 |
| 19:50039285:TGG:T | donor_gain | 1.0000 |
| 19:50039286:GG:G | donor_gain | 1.0000 |
| 19:50039286:GGG:G | donor_gain | 1.0000 |
| 19:50039287:GG:G | donor_gain | 1.0000 |
| 19:50039288:G:GG | donor_gain | 1.0000 |
| 19:50039288:GTGA:G | donor_loss | 1.0000 |
| 19:50039289:T:G | donor_loss | 1.0000 |
| 19:50041725:TGCA:T | acceptor_loss | 1.0000 |
| 19:50041727:CA:C | acceptor_loss | 1.0000 |
| 19:50041728:A:AG | acceptor_gain | 1.0000 |
| 19:50041729:G:A | acceptor_loss | 1.0000 |
| 19:50041729:G:GG | acceptor_gain | 1.0000 |
| 19:50041729:GA:G | acceptor_gain | 1.0000 |
| 19:50041729:GAC:G | acceptor_gain | 1.0000 |
| 19:50041729:GACC:G | acceptor_gain | 1.0000 |
| 19:50041729:GACCC:G | acceptor_gain | 1.0000 |
| 19:50041817:CTGG:C | donor_loss | 1.0000 |
| 19:50041818:TGG:T | donor_loss | 1.0000 |
AlphaMissense
5872 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:50046658:T:C | F739L | 0.998 |
| 19:50046660:C:A | F739L | 0.998 |
| 19:50046660:C:G | F739L | 0.998 |
| 19:50046742:T:C | F767L | 0.998 |
| 19:50046744:C:A | F767L | 0.998 |
| 19:50046744:C:G | F767L | 0.998 |
| 19:50046826:T:C | F795L | 0.998 |
| 19:50046828:T:A | F795L | 0.998 |
| 19:50046828:T:G | F795L | 0.998 |
| 19:50046910:T:C | F823L | 0.998 |
| 19:50046912:T:A | F823L | 0.998 |
| 19:50046912:T:G | F823L | 0.998 |
| 19:50046769:C:G | H776D | 0.996 |
| 19:50046827:T:C | F795S | 0.996 |
| 19:50046574:T:C | F711L | 0.995 |
| 19:50046576:C:A | F711L | 0.995 |
| 19:50046576:C:G | F711L | 0.995 |
| 19:50046685:C:G | H748D | 0.995 |
| 19:50046721:T:C | C760R | 0.995 |
| 19:50046743:T:C | F767S | 0.995 |
| 19:50046845:T:C | L801P | 0.995 |
| 19:50046853:C:G | H804D | 0.995 |
| 19:50046855:C:A | H804Q | 0.995 |
| 19:50046855:C:G | H804Q | 0.995 |
| 19:50046994:T:C | F851L | 0.995 |
| 19:50046996:T:A | F851L | 0.995 |
| 19:50046996:T:G | F851L | 0.995 |
| 19:50046490:T:C | F683L | 0.994 |
| 19:50046492:C:A | F683L | 0.994 |
| 19:50046492:C:G | F683L | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000043122 (19:50033269 C>G), RS1000075776 (19:50033503 A>G), RS1000214111 (19:50045459 A>T), RS1000298521 (19:50040793 C>A), RS1000470180 (19:50034827 G>A,T), RS1000600709 (19:50028921 A>G), RS1000697402 (19:50044114 G>C), RS1000811591 (19:50043713 G>A,T), RS1000860091 (19:50038070 G>A,C,T), RS1001034726 (19:50029123 G>A,T), RS1001078502 (19:50032205 G>A), RS1001229697 (19:50039533 A>G), RS1001332018 (19:50037836 G>C), RS1001393525 (19:50032622 C>T), RS1001434223 (19:50038601 C>T)
Disease associations
OMIM: gene MIM:617908 | 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
0 associations (top):
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
51 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, affects cotreatment, increases abundance | 2 |
| Acetaminophen | increases expression | 2 |
| Valproic Acid | increases methylation, decreases expression, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Aflatoxin B1 | increases expression, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| cupric oxide | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| monomethylarsonous acid | increases expression | 1 |
| abrine | increases expression | 1 |
| eprenetapopt | affects expression, affects reaction | 1 |
| licochalcone B | increases expression | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| PCI 5002 | increases expression, affects cotreatment | 1 |
| excavatolide B | increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_XW49 | HEK293 eGFP-ZNF473 | Transformed cell line | Female |
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.