ZNF224
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Also known as BMZF-2KOX22
Summary
ZNF224 (zinc finger protein 224, HGNC:13017) is a protein-coding gene on chromosome 19q13.31, encoding Zinc finger protein 224 (Q9NZL3). May be involved in transcriptional regulation as a transcriptional repressor.
This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein represses transcription of the aldolase A gene, which encodes a key enzyme in glycolysis. The encoded zinc-finger protein may also function as a transcriptional co-activator with Wilms’ tumor protein 1 to regulate apoptotic genes in leukemia.
Source: NCBI Gene 7767 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 120 total
- MANE Select transcript:
NM_001321645
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13017 |
| Approved symbol | ZNF224 |
| Name | zinc finger protein 224 |
| Location | 19q13.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BMZF-2, KOX22 |
| Ensembl gene | ENSG00000267680 |
| Ensembl biotype | protein_coding |
| OMIM | 194555 |
| Entrez | 7767 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 9 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000336976, ENST00000586978, ENST00000589060, ENST00000589870, ENST00000590614, ENST00000591511, ENST00000591551, ENST00000684943, ENST00000693561, ENST00000902928, ENST00000902929, ENST00000950453, ENST00000950454
RefSeq mRNA: 2 — MANE Select: NM_001321645
NM_001321645, NM_013398
CCDS: CCDS33046
Canonical transcript exons
ENST00000693561 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001345463 | 44096343 | 44096431 |
| ENSE00002497952 | 44100801 | 44100927 |
| ENSE00002726170 | 44101133 | 44101225 |
| ENSE00002852050 | 44094361 | 44094530 |
| ENSE00003487786 | 44097806 | 44097888 |
| ENSE00003936016 | 44106396 | 44109826 |
Expression profiles
Bgee: expression breadth ubiquitous, 262 present calls, max score 91.06.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.8788 / max 157.8898, expressed in 1610 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 176245 | 2.6586 | 1218 |
| 176246 | 2.4314 | 1308 |
| 176247 | 0.7887 | 521 |
Top tissues by expression
275 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar hemisphere | UBERON:0002245 | 91.06 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 90.98 | gold quality |
| cerebellar cortex | UBERON:0002129 | 90.93 | gold quality |
| rectum | UBERON:0001052 | 90.44 | gold quality |
| mucosa of stomach | UBERON:0001199 | 90.31 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 90.18 | gold quality |
| right uterine tube | UBERON:0001302 | 90.08 | gold quality |
| cerebellum | UBERON:0002037 | 89.72 | gold quality |
| left ovary | UBERON:0002119 | 89.65 | gold quality |
| spleen | UBERON:0002106 | 89.18 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 89.12 | gold quality |
| right ovary | UBERON:0002118 | 88.96 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 88.81 | gold quality |
| right lung | UBERON:0002167 | 88.74 | gold quality |
| apex of heart | UBERON:0002098 | 88.72 | gold quality |
| thyroid gland | UBERON:0002046 | 88.63 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 88.61 | gold quality |
| small intestine | UBERON:0002108 | 88.58 | gold quality |
| metanephros cortex | UBERON:0010533 | 88.52 | gold quality |
| lymph node | UBERON:0000029 | 88.33 | gold quality |
| sural nerve | UBERON:0015488 | 88.22 | gold quality |
| adenohypophysis | UBERON:0002196 | 88.19 | gold quality |
| body of pancreas | UBERON:0001150 | 88.16 | gold quality |
| body of uterus | UBERON:0009853 | 88.07 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 87.97 | gold quality |
| pituitary gland | UBERON:0000007 | 87.72 | gold quality |
| ovary | UBERON:0000992 | 87.70 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 87.62 | gold quality |
| minor salivary gland | UBERON:0001830 | 87.60 | gold quality |
| granulocyte | CL:0000094 | 87.59 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.08 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
3 targets.
| Target | Regulation |
|---|---|
| ALDOA | Repression |
| SLC25A1 | Unknown |
| VDR | Activation |
miRNA regulators (miRDB)
92 targeting ZNF224, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-6753-3P | 99.93 | 66.57 | 637 |
| HSA-MIR-7107-3P | 99.93 | 66.73 | 627 |
| 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 |
Literature-anchored findings (GeneRIF, showing 16)
- Results suggest that bone marrow zinc finger 2 (BMZF2) interferes with the transactivation potential of Wilms tumor suppressor gene (WT1). (PMID:12239212)
- We demonstrate that ZNF224, a Kruppel-like zinc finger transcription factor, is the repressor protein that specifically binds to the negative cis-element AldA-NRE and affects the AldA-NRE-mediated transcription (PMID:12527367)
- Differential expression and cellular localization of ZNF224 and ZNF255, two isoforms of the Kruppel-like zinc-finger protein family. (PMID:17900823)
- CIC silencer activity extends over 26 bp (-595/-569), which specifically bind a protein ZNF224 present in HepG2 cell nuclear extracts. (PMID:19505435)
- ZNF224 recruits the arginine methyltransferase PRMT5 on the transcriptional repressor complex of the aldolase A gene (PMID:19741270)
- Coimmunoprecipitation and immunocytochemistry revealed that DEPDC1 interacted and colocalized with zinc finger transcription factor ZNF224, a known transcriptional repressor. (PMID:20587513)
- ZNF224 acts as a transcriptional co-regulator of WT1. (PMID:20591825)
- REVIEW: ZNF224 is a multifunctional protein and alternative splicing, sub-cellular compartmentalization and isoform-specific interactions may modulate its activity (PMID:21187159)
- ZNF224 acts in fine tuning of WT1-dependent control of gene expression, acting as a co-activator of WT1 in the regulation of proapoptotic genes and suppressing WT1 mediated transactivation of antiapoptotitc genes. (PMID:23362234)
- Data show that Wilms’ tumor 1 protein (WT1)binds to the zinc finger protein 224 (ZNF224) promoter and represses ZNF224 expression. (PMID:26320177)
- The analyses using human breast ductal carcinoma tissues exhibited that the expression of ZNF224 and miR-663a was increased in cancer compared to non-cancer region. (PMID:27105517)
- we showed that ZNF224 positively modulates cyclin D3 gene expression. Consistently, we observed that alteration of ZNF224 expression leads to defects in cell cycle control. All together, our results strongly suggest that in Chronic lymphocytic leukaemia (CLL)cells high expression level of ZNF224 can lead to inappropriate cell growth and apoptosis resistance, thus contributing to CLL progression (PMID:28040726)
- Increasing information on the mechanism through which ZNF224 can operate could lead to the identification of agents capable of modulating ZNF224 function, thus potentially paving the way to new therapeutic strategies for treatment of cancer (PMID:28215224)
- identify the receptor tyrosine kinase Axl as a novel target of ZNF224 transcriptional repression activity. (PMID:30176265)
- ZNF224 is a mediator of TGF-beta pro-oncogenic function in melanoma. (PMID:34181020)
- ZNF224 Protein: Multifaceted Functions Based on Its Molecular Partners. (PMID:34684876)
Cross-species orthologs
0 orthologs
Paralogs (176): ZNF195 (ENSG00000005801), ZNF112 (ENSG00000062370), ZNF275 (ENSG00000063587), ZNF37A (ENSG00000075407), ZNF510 (ENSG00000081386), ZNF506 (ENSG00000081665), ZNF268 (ENSG00000090612), MZF1 (ENSG00000099326), ZNF629 (ENSG00000102870), ZNF175 (ENSG00000105497), ZNF85 (ENSG00000105750), ZFP30 (ENSG00000120784), ZNF45 (ENSG00000124459), ZNF391 (ENSG00000124613), ZNF436 (ENSG00000125945), ZNF484 (ENSG00000127081), ZNF835 (ENSG00000127903), ZNF780B (ENSG00000128000), ZSCAN10 (ENSG00000130182), ZNF317 (ENSG00000130803), ZNF331 (ENSG00000130844), ZNF227 (ENSG00000131115), ZNF141 (ENSG00000131127), ZNF132 (ENSG00000131849), ZNF189 (ENSG00000136870), ZIM3 (ENSG00000141946), ZFP14 (ENSG00000142065), ZNF514 (ENSG00000144026), ZNF300 (ENSG00000145908), RBAK (ENSG00000146587), ZNF157 (ENSG00000147117), ZNF182 (ENSG00000147118), ZNF41 (ENSG00000147124), ZNF7 (ENSG00000147789), ZNF117 (ENSG00000152926), ZNF221 (ENSG00000159905), ZNF235 (ENSG00000159917), ZNF714 (ENSG00000160352), ZNF577 (ENSG00000161551), ZNF12 (ENSG00000164631)
Protein
Protein identifiers
Zinc finger protein 224 — Q9NZL3 (reviewed: Q9NZL3)
Alternative names: Bone marrow zinc finger 2, Zinc finger protein 233, Zinc finger protein 255, Zinc finger protein 27, Zinc finger protein KOX22
All UniProt accessions (3): Q9NZL3, K7EL24, K7ENI7
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in transcriptional regulation as a transcriptional repressor. The DEPDC1A-ZNF224 complex may play a critical role in bladder carcinogenesis by repressing the transcription of the A20 gene, leading to transport of NF-KB protein into the nucleus, resulting in suppression of apoptosis of bladder cancer cells.
Subunit / interactions. Interacts with WT1. Interacts with DEPDC1A.
Subcellular location. Nucleus.
Tissue specificity. Ubiquitous. Mainly expressed in fetal tissues.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
RefSeq proteins (2): NP_001308574, NP_037530 (=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 (97 total): strand 34, helix 21, zinc finger region 18, turn 8, sequence variant 6, sequence conflict 6, cross-link 2, chain 1, domain 1
Structure
Experimental structures (PDB)
16 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2ELY | SOLUTION NMR | |
| 2ELZ | SOLUTION NMR | |
| 2EM0 | SOLUTION NMR | |
| 2EM6 | SOLUTION NMR | |
| 2EM7 | SOLUTION NMR | |
| 2EM8 | SOLUTION NMR | |
| 2EM9 | SOLUTION NMR | |
| 2EN1 | SOLUTION NMR | |
| 2EN8 | SOLUTION NMR | |
| 2ENA | SOLUTION NMR | |
| 2ENC | SOLUTION NMR | |
| 2EOQ | SOLUTION NMR | |
| 2EOR | SOLUTION NMR | |
| 2EQ4 | SOLUTION NMR | |
| 2YSP | SOLUTION NMR | |
| 2YTH | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NZL3-F1 | 70.87 | 0.05 |
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 (2): 473, 625
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
| R-HSA-9843940 | Regulation of endogenous retroelements by KRAB-ZFP proteins |
MSigDB gene sets: 78 (showing top):
MODULE_480, MODULE_427, GOCC_NUCLEAR_ENVELOPE, GOCC_TRANSCRIPTION_REPRESSOR_COMPLEX, GOCC_TRANSCRIPTION_REGULATOR_COMPLEX, GOCC_NUCLEAR_MEMBRANE, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOCC_ORGANELLE_ENVELOPE, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, REACTOME_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, OISHI_CHOLANGIOMA_STEM_CELL_LIKE_UP, GOMF_DNA_BINDING_TRANSCRIPTION_REPRESSOR_ACTIVITY, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY
GO Biological Process (4): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of DNA-templated transcription (GO:0045892), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (6): DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), zinc ion binding (GO:0008270), sequence-specific DNA binding (GO:0043565), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription repressor complex (GO:0017053), nuclear membrane (GO:0031965)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase II Transcription | 1 |
| Regulation of endogenous retroelements | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transcription by RNA polymerase II | 2 |
| regulation of DNA-templated transcription | 2 |
| DNA-templated transcription | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| negative regulation of transcription by RNA polymerase II | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription repressor activity | 1 |
| transition metal ion binding | 1 |
| DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| transcription regulator complex | 1 |
| nucleus | 1 |
| nuclear envelope | 1 |
| organelle membrane | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FANCL | ZNF224 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CARD9 | ZNF224 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAGEA8 | ZNF224 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF224 | LRP4 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM28 | ZNF320 | psi-mi:“MI:0914”(association) | 0.530 |
| MTUS2 | ZNF224 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PB2 | SEC15L3 | psi-mi:“MI:0914”(association) | 0.350 |
| PB2 | psi-mi:“MI:0914”(association) | 0.350 | |
| APP | ZNF224 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ZNF224 | MAGEA8 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ZNF224 | CLIC6 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (30): MTUS2 (Two-hybrid), ZNF224 (Co-fractionation), PTX3 (Affinity Capture-MS), LRP1B (Affinity Capture-MS), LRP4 (Affinity Capture-MS), SORL1 (Affinity Capture-MS), ZNF813 (Affinity Capture-MS), LRP2 (Affinity Capture-MS), NOTCH3 (Affinity Capture-MS), ZNF224 (Synthetic Lethality), ZNF224 (Two-hybrid), SORL1 (Affinity Capture-MS), NOTCH3 (Affinity Capture-MS), TGM3 (Affinity Capture-MS), LRP1B (Affinity Capture-MS)
ESM2 similar proteins: A0JNB1, A1YF12, A1YG88, A2T759, A6QLU5, B2RUI1, D3ZVT0, O14709, O43296, O75123, P10072, P15621, P17020, P17097, P51814, P85977, Q08ER8, Q0VGE8, Q14590, Q32KN0, Q3KQV3, Q4V8A8, Q5CZA5, Q5RBX0, Q5RCD9, Q5VIY5, Q61116, Q61967, Q6GQR8, Q6P9A3, Q6ZMS4, Q7TSH9, Q7TSI0, Q7Z3I7, Q86UD4, Q86WZ6, Q8BFS8, Q8IZ26, Q8N9F8, Q8TAF7
Diamond homologs: A0A1W2PQL4, A0JNB1, A0JPL0, A6NK53, A6QLU5, A6QPT6, A7MBI1, A8MT65, A8MUV8, A8MWA4, B2RXC5, B4DU55, B4DX44, E9PYI1, O14628, O75346, P0CH99, P0CI00, P17014, P17030, P17032, P17098, P51786, P85977, Q02386, Q06730, Q06732, Q0VAW7, Q12901, Q13360, Q14586, Q14588, Q14590, Q16587, Q2M3X9, Q2VY69, Q32M78, Q3ZCX4, Q49AA0, Q4R6J4
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ZNF224 | “down-regulates quantity by repression” | ALDOA | “transcriptional regulation” |
| ZNF224 | “down-regulates quantity by repression” | Aldolase | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
120 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 89 |
| Likely benign | 13 |
| Benign | 8 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
921 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:44094522:A:T | donor_gain | 1.0000 |
| 19:44096327:T:TA | acceptor_gain | 1.0000 |
| 19:44096330:T:TA | acceptor_gain | 1.0000 |
| 19:44096333:T:TA | acceptor_gain | 1.0000 |
| 19:44097793:T:A | acceptor_gain | 1.0000 |
| 19:44097794:G:A | acceptor_gain | 1.0000 |
| 19:44100911:G:GT | donor_gain | 1.0000 |
| 19:44100912:A:T | donor_gain | 1.0000 |
| 19:44100923:AGTGG:A | donor_loss | 1.0000 |
| 19:44100924:G:GG | donor_gain | 1.0000 |
| 19:44100926:GGGTG:G | donor_loss | 1.0000 |
| 19:44100928:G:C | donor_loss | 1.0000 |
| 19:44103243:T:G | donor_gain | 1.0000 |
| 19:44103243:T:TG | donor_gain | 1.0000 |
| 19:44096292:C:G | acceptor_gain | 0.9900 |
| 19:44096342:GCT:G | acceptor_gain | 0.9900 |
| 19:44097797:A:AG | acceptor_gain | 0.9900 |
| 19:44097798:C:G | acceptor_gain | 0.9900 |
| 19:44097800:TTGCA:T | acceptor_loss | 0.9900 |
| 19:44097801:TGCAG:T | acceptor_loss | 0.9900 |
| 19:44097802:GCA:G | acceptor_loss | 0.9900 |
| 19:44097803:CA:C | acceptor_loss | 0.9900 |
| 19:44097804:A:AG | acceptor_gain | 0.9900 |
| 19:44097805:G:GC | acceptor_loss | 0.9900 |
| 19:44097805:G:GG | acceptor_gain | 0.9900 |
| 19:44097805:GGCAC:G | acceptor_gain | 0.9900 |
| 19:44097859:GAA:G | donor_gain | 0.9900 |
| 19:44097885:CAAGG:C | donor_loss | 0.9900 |
| 19:44097887:AG:A | donor_loss | 0.9900 |
| 19:44097888:GG:G | donor_loss | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000123934 (19:44106044 G>A,T), RS1000517733 (19:44102562 G>A), RS1000612327 (19:44101633 G>A), RS1000745724 (19:44096019 G>A), RS1000747997 (19:44109019 C>T), RS1000992241 (19:44095586 A>C), RS1001055022 (19:44094647 T>G), RS1001185069 (19:44105567 A>T), RS1001411023 (19:44099181 C>G,T), RS1001656313 (19:44098814 G>T), RS1002084430 (19:44101934 T>C), RS1002257518 (19:44097295 A>T), RS1002356557 (19:44095337 A>C,G), RS1002429871 (19:44108443 T>C), RS1002562831 (19:44098163 C>T)
Disease associations
OMIM: gene MIM:194555 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000310_1 | Alzheimer’s disease | 2.000000e-06 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
56 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 3 |
| bisphenol A | decreases expression, increases expression | 2 |
| Air Pollutants | decreases expression, affects cotreatment, increases abundance, increases oxidation | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Tretinoin | affects cotreatment, decreases expression, increases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| geraniol | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| manganese chloride | increases expression | 1 |
| cupric oxide | increases expression | 1 |
| methacrylaldehyde | increases abundance, affects cotreatment, increases oxidation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| bromovanin | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | affects cotreatment, decreases methylation | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | affects cotreatment, decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation, increases methylation | 1 |
| Acetaminophen | increases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Alzheimer disease