ZNF189
gene geneOn this page
Summary
ZNF189 (zinc finger protein 189, HGNC:12980) is a protein-coding gene on chromosome 9q31.1, encoding Zinc finger protein 189 (O75820). May be involved in transcriptional regulation.
Kruppel-like zinc finger proteins such as ZNF189 contain a conserved stretch of 7 amino acids that connects a variable number of DNA-binding zinc finger repeats of the cys(2)his(2) (C2H2) type (summarized by Odeberg et al., 1998 [PubMed 9653648]). Approximately 30% of human Kruppel-like zinc finger proteins contain an N-terminal Kruppel-associated box (KRAB) domain. The KRAB domain consists of approximately 75 amino acids that may be subdivided into an A box, which is present in every KRAB domain and is essential for transcriptional repression, and a B box, which is not always present.
Source: NCBI Gene 7743 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 46 total
- MANE Select transcript:
NM_003452
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12980 |
| Approved symbol | ZNF189 |
| Name | zinc finger protein 189 |
| Location | 9q31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000136870 |
| Ensembl biotype | protein_coding |
| OMIM | 603132 |
| Entrez | 7743 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000259395, ENST00000339664, ENST00000374861, ENST00000615466
RefSeq mRNA: 5 — MANE Select: NM_003452
NM_001278231, NM_001278232, NM_001278240, NM_003452, NM_197977
CCDS: CCDS65096, CCDS6754, CCDS6755, CCDS75867
Canonical transcript exons
ENST00000339664 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001733032 | 101399884 | 101400010 |
| ENSE00003665756 | 101398851 | 101399189 |
| ENSE00003919561 | 101407929 | 101410654 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 97.73.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.2566 / max 200.9506, expressed in 1712 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 97753 | 7.2566 | 1712 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| corpus epididymis | UBERON:0004359 | 97.73 | gold quality |
| cauda epididymis | UBERON:0004360 | 95.95 | gold quality |
| caput epididymis | UBERON:0004358 | 95.40 | gold quality |
| adrenal tissue | UBERON:0018303 | 95.16 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 94.92 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 94.85 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 94.15 | gold quality |
| corpus callosum | UBERON:0002336 | 94.11 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 93.50 | gold quality |
| medulla oblongata | UBERON:0001896 | 93.48 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 93.06 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 92.79 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 92.54 | gold quality |
| ventral tegmental area | UBERON:0002691 | 92.02 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 91.75 | gold quality |
| cranial nerve II | UBERON:0000941 | 91.64 | gold quality |
| body of pancreas | UBERON:0001150 | 91.52 | gold quality |
| pons | UBERON:0000988 | 91.49 | gold quality |
| spinal cord | UBERON:0002240 | 91.37 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 91.37 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 91.14 | gold quality |
| parietal lobe | UBERON:0001872 | 91.04 | gold quality |
| inferior olivary complex | UBERON:0002127 | 91.01 | gold quality |
| heart right ventricle | UBERON:0002080 | 90.92 | gold quality |
| superficial temporal artery | UBERON:0001614 | 90.88 | gold quality |
| postcentral gyrus | UBERON:0002581 | 90.76 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 90.59 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 90.44 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 90.43 | gold quality |
| gall bladder | UBERON:0002110 | 90.22 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.62 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| CDKN2A |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1725.1 | ZNF189 | More than 3 adjacent zinc fingers |
| MA1725.2 | ZNF189 | More than 3 adjacent zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:27852650
miRNA regulators (miRDB)
71 targeting ZNF189, 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-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| 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-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
Literature-anchored findings (GeneRIF, showing 1)
- Maternal genes FLNB, HIC1 and ZNF189 were strongly associated with risk of clefting. (PMID:20634891)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zfp189 | ENSMUSG00000039634 |
| rattus_norvegicus | Zfp189 | ENSRNOG00000006972 |
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), 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), ZNF3 (ENSG00000166526)
Protein
Protein identifiers
Zinc finger protein 189 — O75820 (reviewed: O75820)
All UniProt accessions (2): A0A087X0K2, O75820
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in transcriptional regulation.
Subcellular location. Nucleus.
Tissue specificity. Ubiquitous.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O75820-1 | 1 | yes |
| O75820-2 | 2 | |
| O75820-3 | 3, B2 | |
| O75820-4 | 4 |
RefSeq proteins (5): NP_001265160, NP_001265161, NP_001265169, NP_003443, NP_932094 (=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 |
| IPR050826 | Krueppel_C2H2_ZnFinger | Family |
Pfam: PF00096, PF01352
UniProt features (28 total): zinc finger region 16, cross-link 5, splice variant 3, chain 1, domain 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75820-F1 | 74.24 | 0.09 |
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): 67, 88, 160, 434, 452
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 151 (showing top):
RRAGTTGT_UNKNOWN, MODULE_493, TTGGGAG_MIR150, AACWWCAANK_UNKNOWN, GTGCCTT_MIR506, CHEN_LVAD_SUPPORT_OF_FAILING_HEART_UP, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, TGGNNNNNNKCCAR_UNKNOWN, CAIRO_HEPATOBLASTOMA_UP, ACTWSNACTNY_UNKNOWN, TCCCRNNRTGC_UNKNOWN, STAT1_02, YKACATTT_UNKNOWN, THUM_SYSTOLIC_HEART_FAILURE_DN, MATSUDA_NATURAL_KILLER_DIFFERENTIATION
GO Biological Process (4): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of biosynthetic process (GO:0009891), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (5): 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), metal ion binding (GO:0046872)
GO Cellular Component (1): nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase II Transcription | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of transcription by RNA polymerase II | 2 |
| transcription by RNA polymerase II | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| negative regulation of DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| biosynthetic process | 1 |
| regulation of biosynthetic process | 1 |
| positive regulation of metabolic process | 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 |
| transition metal ion binding | 1 |
| nucleic acid binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
548 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF189 | MRPL50 | Q8N5N7 | 624 |
| ZNF189 | TMEM186 | Q96B77 | 432 |
| ZNF189 | ZMAT5 | Q9UDW3 | 432 |
| ZNF189 | NUDCD1 | Q96RS6 | 409 |
| ZNF189 | HMG20A | Q9NP66 | 409 |
| ZNF189 | RSRC2 | Q7L4I2 | 377 |
| ZNF189 | ALG9 | Q9H6U8 | 368 |
| ZNF189 | ZNF277 | Q9NRM2 | 339 |
| ZNF189 | PHF1 | O43189 | 323 |
| ZNF189 | TPD52 | P55327 | 303 |
| ZNF189 | FOXE1 | O00358 | 296 |
| ZNF189 | APPBP2 | Q92624 | 295 |
| ZNF189 | ROR2 | Q01974 | 293 |
| ZNF189 | STRADB | Q9C0K7 | 280 |
| ZNF189 | ZMYM4 | Q5VZL5 | 270 |
IntAct
41 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| H1-1 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| MACROH2A2 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| RPL30 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| AURKA | ZNF189 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF189 | AXIN2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF189 | BMPR1A | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF189 | BRAF | psi-mi:“MI:0915”(physical association) | 0.370 |
| BUB1 | ZNF189 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF189 | CTNNA1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF189 | DLC1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF189 | ERBB2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| KRAS | ZNF189 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MCC | ZNF189 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PMS2 | ZNF189 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SMAD4 | ZNF189 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SRC | ZNF189 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF189 | STK11 | psi-mi:“MI:0915”(physical association) | 0.370 |
| rl3_rl3l_human | NKRF | psi-mi:“MI:0914”(association) | 0.350 |
| NOP2 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| NOTCH2 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL28 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| APOBEC3C | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| OASL | ZNF316 | psi-mi:“MI:0914”(association) | 0.350 |
| GLI4 | ZNF316 | psi-mi:“MI:0914”(association) | 0.350 |
| RPS6 | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
| NOL12 | psi-mi:“MI:0914”(association) | 0.350 | |
| SURF6 | psi-mi:“MI:0914”(association) | 0.350 | |
| FGFBP1 | ZNF724 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF2 | APOBEC3DE | psi-mi:“MI:0914”(association) | 0.350 |
| RPL17 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (64): ZNF189 (Affinity Capture-MS), ZNF189 (Affinity Capture-MS), ZNF189 (Affinity Capture-MS), ZNF189 (Affinity Capture-MS), ZNF189 (Affinity Capture-MS), ZNF189 (Affinity Capture-MS), ZNF189 (Affinity Capture-MS), ZNF189 (Affinity Capture-MS), ZNF189 (Affinity Capture-MS), ZNF189 (Affinity Capture-MS), ZNF189 (Affinity Capture-MS), ZNF189 (Affinity Capture-RNA), ZNF189 (Affinity Capture-MS), ZNF189 (Affinity Capture-RNA), ZNF189 (Two-hybrid)
ESM2 similar proteins: A0JNB1, A6QLU5, O75123, O75820, P10076, P10755, P16374, P17031, P17097, P17141, P51814, Q02975, Q08ER8, Q14588, Q14590, Q32KN0, Q3V080, Q4V8A8, Q5CZA5, Q5R4K8, Q5R5Q6, Q5R9S5, Q5RBX0, Q61751, Q6GQR8, Q6P560, Q6ZMS4, Q7TSH9, Q7TSI0, Q7Z3I7, Q7Z3V5, Q8BLB0, Q8N141, Q8N184, Q8N823, Q8N8J6, Q8N9F8, Q8TBZ5, Q8TF47, Q96ND8
Diamond homologs: A0JPK3, A8MT65, C9JN71, E9QAG8, G3X9G7, O75820, P16373, P16374, P16415, P17017, P17024, P17025, P51815, P52737, Q08AG5, Q08ER8, Q0D2J5, Q15973, Q2M218, Q3KP31, Q3V080, Q494X3, Q4R4C7, Q5MYW4, Q5R9F0, Q5R9S5, Q5REI6, Q5REK1, Q68EA5, Q6P560, Q6P5C7, Q6ZQV5, Q7L945, Q86T29, Q8BGV5, Q8C6P8, Q8IYI8, Q8IZC7, Q8N7K0, Q8N972
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 55 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Peptide chain elongation | 7 | 24.0× | 1e-06 |
| Viral mRNA Translation | 7 | 24.0× | 1e-06 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 7 | 23.7× | 1e-06 |
| Selenocysteine synthesis | 7 | 22.7× | 1e-06 |
| Eukaryotic Translation Termination | 7 | 22.7× | 1e-06 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 7 | 22.3× | 1e-06 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 7 | 22.3× | 1e-06 |
| Formation of a pool of free 40S subunits | 7 | 21.2× | 1e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 7 | 25.9× | 3e-06 |
| rRNA processing | 8 | 22.7× | 1e-06 |
| translation | 7 | 14.4× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
46 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 41 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
609 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:101400009:GG:G | donor_gain | 1.0000 |
| 9:101400010:GG:G | donor_gain | 1.0000 |
| 9:101399186:GAAG:G | donor_gain | 0.9900 |
| 9:101399188:AG:A | donor_gain | 0.9900 |
| 9:101399189:GG:G | donor_gain | 0.9900 |
| 9:101399189:GGTA:G | donor_loss | 0.9900 |
| 9:101399190:G:GG | donor_gain | 0.9900 |
| 9:101400008:TGGG:T | donor_loss | 0.9900 |
| 9:101400011:G:C | donor_loss | 0.9900 |
| 9:101400011:G:GG | donor_gain | 0.9900 |
| 9:101400012:T:TC | donor_loss | 0.9900 |
| 9:101407927:A:AG | acceptor_gain | 0.9900 |
| 9:101407928:G:GG | acceptor_gain | 0.9900 |
| 9:101407928:GAT:G | acceptor_gain | 0.9900 |
| 9:101399187:AAG:A | donor_gain | 0.9800 |
| 9:101399194:G:GG | donor_gain | 0.9800 |
| 9:101407924:TCCA:T | acceptor_loss | 0.9800 |
| 9:101407925:CCA:C | acceptor_loss | 0.9800 |
| 9:101407926:CA:C | acceptor_loss | 0.9800 |
| 9:101399882:AGG:A | acceptor_gain | 0.9700 |
| 9:101399883:GGG:G | acceptor_gain | 0.9700 |
| 9:101407927:AGAT:A | acceptor_gain | 0.9700 |
| 9:101407928:GATG:G | acceptor_gain | 0.9700 |
| 9:101407928:GATGT:G | acceptor_gain | 0.9700 |
| 9:101399508:T:TA | acceptor_gain | 0.9600 |
| 9:101407919:A:AG | acceptor_gain | 0.9600 |
| 9:101399193:A:AG | donor_gain | 0.9500 |
| 9:101399882:AG:A | acceptor_gain | 0.9500 |
| 9:101399883:GG:G | acceptor_gain | 0.9500 |
| 9:101399188:AGGT:A | donor_gain | 0.9400 |
AlphaMissense
4242 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:101408573:T:C | F269L | 0.998 |
| 9:101408575:C:A | F269L | 0.998 |
| 9:101408575:C:G | F269L | 0.998 |
| 9:101408657:T:C | F297L | 0.998 |
| 9:101408659:T:A | F297L | 0.998 |
| 9:101408659:T:G | F297L | 0.998 |
| 9:101408741:T:C | F325L | 0.998 |
| 9:101408743:T:A | F325L | 0.998 |
| 9:101408743:T:G | F325L | 0.998 |
| 9:101408825:T:C | F353L | 0.998 |
| 9:101408827:C:A | F353L | 0.998 |
| 9:101408827:C:G | F353L | 0.998 |
| 9:101408909:T:C | F381L | 0.998 |
| 9:101408911:C:A | F381L | 0.998 |
| 9:101408911:C:G | F381L | 0.998 |
| 9:101408405:T:C | F213L | 0.997 |
| 9:101408407:T:A | F213L | 0.997 |
| 9:101408407:T:G | F213L | 0.997 |
| 9:101408489:T:C | F241L | 0.997 |
| 9:101408491:C:A | F241L | 0.997 |
| 9:101408491:C:G | F241L | 0.997 |
| 9:101408993:T:C | F409L | 0.997 |
| 9:101408995:T:A | F409L | 0.997 |
| 9:101408995:T:G | F409L | 0.997 |
| 9:101409245:T:C | F493L | 0.997 |
| 9:101409247:C:A | F493L | 0.997 |
| 9:101409247:C:G | F493L | 0.997 |
| 9:101408321:T:C | F185L | 0.995 |
| 9:101408323:T:A | F185L | 0.995 |
| 9:101408323:T:G | F185L | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000028563 (9:101397664 T>A,C), RS1000189078 (9:101403253 A>G), RS1000289701 (9:101397402 T>C), RS1000489863 (9:101402796 A>C,G), RS1000658529 (9:101407450 AAC>A), RS1000710475 (9:101407732 A>G), RS1000829027 (9:101401414 T>A,C), RS1001181821 (9:101396904 T>C,G), RS1001588711 (9:101401571 C>G), RS1001973419 (9:101407512 C>T), RS1002195319 (9:101400381 G>C), RS1002333255 (9:101406260 G>A), RS1002383964 (9:101406602 G>A), RS1002582345 (9:101397530 G>T), RS1002600774 (9:101399262 C>A,G)
Disease associations
OMIM: gene MIM:603132 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance, increases expression | 4 |
| Valproic Acid | affects expression, decreases expression, decreases methylation | 4 |
| Acetaminophen | decreases expression, increases expression | 3 |
| Cyclosporine | decreases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| geraniol | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Azacitidine | decreases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Cadmium | increases expression, increases abundance | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Lead | affects expression | 1 |
| Quercetin | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | increases expression, affects cotreatment | 1 |
| Aflatoxin B1 | decreases expression | 1 |
| Aflatoxin M1 | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 2 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E2PQ | HAP1 ZNF189 (-) 1 | Cancer cell line | Male |
| CVCL_E2PR | HAP1 ZNF189 (-) 2 | Cancer cell line | Male |
| CVCL_XW13 | HEK293 eGFP-ZNF189 | 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.