ZFP90
gene geneOn this page
Also known as KIAA1954NK10ZNF756
Summary
ZFP90 (ZFP90 zinc finger protein, HGNC:23329) is a protein-coding gene on chromosome 16q22.1, encoding Zinc finger protein 90 homolog (Q8TF47). Inhibits the transcriptional repressor activity of REST by inhibiting its binding to DNA, thereby derepressing transcription of REST target genes.
This gene encodes a member of the zinc finger protein family that modulates gene expression. The encoded protein derepresses the transcription of certain fetal cardiac genes and may contribute to the genetic reprogramming that occurs during the development of heart failure. Genome wide association studies have identified this gene among ulcerative colitis risk loci. Alternative splicing of this gene results in multiple transcript variants.
Source: NCBI Gene 146198 — RefSeq curated summary.
At a glance
- GWAS associations: 12
- Clinical variants (ClinVar): 87 total
- MANE Select transcript:
NM_001305203
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23329 |
| Approved symbol | ZFP90 |
| Name | ZFP90 zinc finger protein |
| Location | 16q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1954, NK10, ZNF756 |
| Ensembl gene | ENSG00000184939 |
| Ensembl biotype | protein_coding |
| OMIM | 609451 |
| Entrez | 146198 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 12 protein_coding, 4 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000398253, ENST00000562156, ENST00000563169, ENST00000564323, ENST00000564558, ENST00000566573, ENST00000569109, ENST00000569323, ENST00000570495, ENST00000570884, ENST00000571382, ENST00000571720, ENST00000571809, ENST00000573113, ENST00000573161, ENST00000573685, ENST00000576305, ENST00000576805, ENST00000611381
RefSeq mRNA: 6 — MANE Select: NM_001305203
NM_001305203, NM_001305204, NM_001305206, NM_001305207, NM_001305208, NM_133458
CCDS: CCDS42183, CCDS76892, CCDS82003
Canonical transcript exons
ENST00000563169 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001532291 | 68558473 | 68558568 |
| ENSE00002642258 | 68539291 | 68539479 |
| ENSE00002648467 | 68563044 | 68567131 |
| ENSE00003512841 | 68539758 | 68539825 |
| ENSE00003648647 | 68557998 | 68558124 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 93.57.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.7842 / max 143.7486, expressed in 1755 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 154751 | 10.3177 | 1729 |
| 154749 | 2.8558 | 1160 |
| 154752 | 0.6108 | 385 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ganglionic eminence | UBERON:0004023 | 93.57 | gold quality |
| cortical plate | UBERON:0005343 | 93.42 | gold quality |
| corpus callosum | UBERON:0002336 | 93.26 | gold quality |
| pancreatic ductal cell | CL:0002079 | 93.08 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 92.79 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 92.77 | gold quality |
| medulla oblongata | UBERON:0001896 | 92.75 | gold quality |
| ventral tegmental area | UBERON:0002691 | 92.40 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 92.33 | gold quality |
| ventricular zone | UBERON:0003053 | 91.64 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 91.56 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 91.40 | gold quality |
| pons | UBERON:0000988 | 91.24 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 91.24 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 91.07 | gold quality |
| thymus | UBERON:0002370 | 90.43 | gold quality |
| bronchial epithelial cell | CL:0002328 | 90.40 | gold quality |
| bronchus | UBERON:0002185 | 90.15 | gold quality |
| nipple | UBERON:0002030 | 90.09 | gold quality |
| secondary oocyte | CL:0000655 | 90.06 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 89.73 | gold quality |
| tibia | UBERON:0000979 | 89.58 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 89.56 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 89.37 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 89.21 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 89.18 | gold quality |
| midbrain | UBERON:0001891 | 89.06 | gold quality |
| sperm | CL:0000019 | 88.96 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 88.96 | gold quality |
| spinal cord | UBERON:0002240 | 88.77 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.15 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| IFNG | |
| NPPB |
miRNA regulators (miRDB)
75 targeting ZFP90, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-221-3P | 99.86 | 71.56 | 1329 |
| HSA-MIR-222-3P | 99.86 | 71.35 | 1337 |
| HSA-MIR-544A | 99.84 | 68.66 | 1965 |
| HSA-MIR-139-5P | 99.80 | 69.50 | 1399 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-3913-5P | 99.78 | 67.26 | 968 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-4446-5P | 99.72 | 69.19 | 2544 |
| HSA-MIR-4527 | 99.66 | 67.43 | 714 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
| HSA-MIR-6503-5P | 99.62 | 66.96 | 597 |
| HSA-MIR-5689 | 99.50 | 71.26 | 1154 |
| HSA-MIR-5571-5P | 99.49 | 66.99 | 1764 |
| HSA-MIR-4251 | 99.40 | 69.19 | 3363 |
Literature-anchored findings (GeneRIF, showing 2)
- A 16q22.1 variant confers susceptibility to colorectal cancer as a distal regulator of ZFP90. (PMID:31641208)
- Assessing the Function of the ZFP90 Variant rs1170426 in SLE and the Association Between SLE Drug Target and Susceptibility Genes. (PMID:33796098)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zfp90 | ENSMUSG00000031907 |
| rattus_norvegicus | Zfp90 | ENSRNOG00000020087 |
| drosophila_melanogaster | CG2712 | FBGN0024975 |
| drosophila_melanogaster | Phs | FBGN0036522 |
| drosophila_melanogaster | CG3281 | FBGN0260741 |
Paralogs (62): ZNF582 (ENSG00000018869), ZNF264 (ENSG00000083844), ZNF343 (ENSG00000088876), ZNF684 (ENSG00000117010), ZNF133 (ENSG00000125846), ZNF557 (ENSG00000130544), ZNF337 (ENSG00000130684), ZNF20 (ENSG00000132010), ZFP37 (ENSG00000136866), ZNF614 (ENSG00000142556), KRBOX4 (ENSG00000147121), ZNF599 (ENSG00000153896), ZNF19 (ENSG00000157429), ZNF589 (ENSG00000164048), PRDM9 (ENSG00000164256), ZNF180 (ENSG00000167384), ZNF558 (ENSG00000167785), ZNF35 (ENSG00000169981), ZNF778 (ENSG00000170100), ZNF439 (ENSG00000171291), ZNF440 (ENSG00000171295), ZNF556 (ENSG00000172000), ZNF554 (ENSG00000172006), ZNF596 (ENSG00000172748), ZNF80 (ENSG00000174255), ZNF266 (ENSG00000174652), ZNF25 (ENSG00000175395), ZNF77 (ENSG00000175691), ZNF169 (ENSG00000175787), ZNF404 (ENSG00000176222), ZNF491 (ENSG00000177599), ZNF620 (ENSG00000177842), ZNF619 (ENSG00000177873), ZNF875 (ENSG00000181666), ZNF329 (ENSG00000181894), ZNF566 (ENSG00000186017), ZNF529 (ENSG00000186020), ZNF749 (ENSG00000186230), ZNF555 (ENSG00000186300), ZNF70 (ENSG00000187792)
Protein
Protein identifiers
Zinc finger protein 90 homolog — Q8TF47 (reviewed: Q8TF47)
Alternative names: Zinc finger protein 756
All UniProt accessions (9): Q8TF47, H3BMI1, H3BVC6, I3L0T2, I3L0X7, I3L1L4, I3L2Q3, I3L3M0, J3QKQ8
UniProt curated annotations — full annotation on UniProt →
Function. Inhibits the transcriptional repressor activity of REST by inhibiting its binding to DNA, thereby derepressing transcription of REST target genes. Acts as a bridge between FOXP3 and the corepressor TRIM28, and is required for the transcriptional repressor activity of FOXP3 in regulatory T-cells (Treg).
Subunit / interactions. Interacts (via N- and C-termini) with REST (via zinc-finger DNA-binding domain); the interaction inhibits REST repressor activity. Interacts with FOXP3 and TRIM28.
Subcellular location. Nucleus.
Tissue specificity. Expressed in heart. Isoform 2: Highly expressed in regulatory T-cells (Treg).
Miscellaneous. Interacts (via 75-113 AA) with FOXP3. Interacts (via KRAB domain) with TRIM28.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TF47-1 | 1 | yes |
| Q8TF47-3 | 2, FOXP3-interacting KRAB-domain containing protein, FIK |
RefSeq proteins (6): NP_001292132, NP_001292133, NP_001292135, NP_001292136, NP_001292137, NP_597715 (=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 (19 total): zinc finger region 13, splice variant 2, chain 1, domain 1, cross-link 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TF47-F1 | 64.79 | 0.06 |
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): 448
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 151 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, chr16q22, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, HERNANDEZ_ABERRANT_MITOSIS_BY_DOCETACEL_2NM_UP, MODULE_205, LEE_AGING_MUSCLE_UP, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, CHEN_METABOLIC_SYNDROM_NETWORK, WONG_ADULT_TISSUE_STEM_MODULE, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GSE13522_WT_VS_IFNAR_KO_SKING_T_CRUZI_Y_STRAIN_INF_DN, GOMF_DNA_BINDING_TRANSCRIPTION_REPRESSOR_ACTIVITY, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, GSE14415_NATURAL_TREG_VS_FOXP3_KO_NATURAL_TREG_DN
GO Biological Process (5): regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of DNA-templated transcription (GO:0045893), negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355), negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (7): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), 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 DNA-templated transcription | 3 |
| DNA-templated transcription | 3 |
| transcription by RNA polymerase II | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| positive regulation of RNA biosynthetic process | 1 |
| negative regulation of DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| transcription cis-regulatory region binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| negative regulation of transcription by RNA polymerase II | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription repressor activity | 1 |
| transition metal ion binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
612 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZFP90 | CDH15 | P55291 | 537 |
| ZFP90 | RHOBTB3 | O94955 | 471 |
| ZFP90 | SVOPL | Q8N434 | 458 |
| ZFP90 | ST8SIA1 | Q92185 | 456 |
| ZFP90 | LRGUK | Q96M69 | 454 |
| ZFP90 | MCCC1 | Q96RQ3 | 429 |
| ZFP90 | COL26A1 | Q96A83 | 427 |
| ZFP90 | ZC3H12C | Q9C0D7 | 426 |
| ZFP90 | SCML2 | Q9UQR0 | 424 |
| ZFP90 | SCIN | Q9Y6U3 | 418 |
| ZFP90 | CLDN23 | Q96B33 | 418 |
| ZFP90 | M0R233 | M0R233 | 401 |
| ZFP90 | MTPN | P58546 | 386 |
| ZFP90 | AGBL3 | Q8NEM8 | 378 |
| ZFP90 | LACTB | P83096 | 376 |
IntAct
82 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SUOX | ZFP90 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FRS3 | ZFP90 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PKN1 | ZFP90 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BOLA2-SMG1P6 | ZFP90 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFP90 | TDRKH | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFP90 | ENKD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LMO1 | ZFP90 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HOXC8 | ZFP90 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFP90 | CPNE7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MLH1 | ZFP90 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RUNX1T1 | ZFP90 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFP90 | EXOSC5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFP90 | GTPBP3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRKAB2 | ZFP90 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFP90 | TEKT4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFP90 | ABI2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRAPPC6A | ZFP90 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFP90 | GCC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCNC | ZFP90 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LONRF1 | ZFP90 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFP90 | MALSU1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GLYCTK | ZFP90 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (36): ZFP90 (Affinity Capture-MS), ZFP90 (Two-hybrid), ZFP90 (Two-hybrid), ZFP90 (Two-hybrid), ZFP90 (Two-hybrid), ZFP90 (Two-hybrid), ZFP90 (Two-hybrid), ZFP90 (Two-hybrid), ZFP90 (Two-hybrid), ZFP90 (Two-hybrid), ZFP90 (Two-hybrid), ZFP90 (Two-hybrid), ZFP90 (Two-hybrid), ZFP90 (Two-hybrid), ZFP90 (Two-hybrid)
ESM2 similar proteins: A0A087WUV0, A0JNB1, A2VDP4, B2RUI1, P0CG31, P10072, P17025, P17036, P17097, P18733, P51814, Q08ER8, Q09FC8, Q0VGE8, Q14590, Q15937, Q16600, Q2M3X9, Q4V8A8, Q5CZA5, Q5R8G9, Q5RBX0, Q5VIY5, Q68DI1, Q6J6I6, Q6NX49, Q6P1L6, Q6PG37, Q6ZMS4, Q6ZMW2, Q80YP6, Q86UD4, Q86Y25, Q8IZ26, Q8N184, Q8NB42, Q8NEK5, Q8TAF7, Q8TF47, Q8WXB4
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
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
87 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 80 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
995 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:68539823:CAGG:C | donor_loss | 0.9900 |
| 16:68539826:G:GA | donor_loss | 0.9900 |
| 16:68539827:T:G | donor_loss | 0.9900 |
| 16:68558466:T:G | acceptor_gain | 0.9900 |
| 16:68558466:T:TA | acceptor_gain | 0.9900 |
| 16:68539370:A:G | donor_gain | 0.9800 |
| 16:68539476:C:G | donor_gain | 0.9800 |
| 16:68539480:G:GG | donor_gain | 0.9800 |
| 16:68558125:G:GA | donor_loss | 0.9800 |
| 16:68558126:TAAG:T | donor_loss | 0.9800 |
| 16:68558374:GA:G | acceptor_gain | 0.9800 |
| 16:68541766:GGCTT:G | donor_gain | 0.9700 |
| 16:68541767:GCTTG:G | donor_gain | 0.9700 |
| 16:68557994:ACAG:A | acceptor_loss | 0.9700 |
| 16:68557997:G:GC | acceptor_loss | 0.9700 |
| 16:68558085:G:T | donor_gain | 0.9700 |
| 16:68558127:AAG:A | donor_loss | 0.9700 |
| 16:68558465:AT:A | acceptor_gain | 0.9700 |
| 16:68558471:AG:A | acceptor_gain | 0.9700 |
| 16:68558472:GG:G | acceptor_gain | 0.9700 |
| 16:68558541:G:GT | donor_gain | 0.9700 |
| 16:68539379:G:GT | donor_gain | 0.9600 |
| 16:68539380:GAGA:G | donor_gain | 0.9600 |
| 16:68539383:A:G | donor_gain | 0.9600 |
| 16:68539423:GCTC:G | donor_gain | 0.9600 |
| 16:68539476:C:CG | donor_gain | 0.9600 |
| 16:68539478:GA:G | donor_gain | 0.9600 |
| 16:68539756:A:AG | acceptor_gain | 0.9600 |
| 16:68539757:G:GG | acceptor_gain | 0.9600 |
| 16:68558564:TCCAG:T | donor_loss | 0.9600 |
AlphaMissense
4258 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:68563658:T:C | F291L | 0.999 |
| 16:68563660:C:A | F291L | 0.999 |
| 16:68563660:C:G | F291L | 0.999 |
| 16:68563742:T:C | F319L | 0.999 |
| 16:68563744:C:A | F319L | 0.999 |
| 16:68563744:C:G | F319L | 0.999 |
| 16:68563783:C:A | H332Q | 0.998 |
| 16:68563783:C:G | H332Q | 0.998 |
| 16:68563826:T:C | F347L | 0.998 |
| 16:68563828:T:A | F347L | 0.998 |
| 16:68563828:T:G | F347L | 0.998 |
| 16:68563910:T:C | F375L | 0.998 |
| 16:68563912:T:A | F375L | 0.998 |
| 16:68563912:T:G | F375L | 0.998 |
| 16:68563994:T:C | F403L | 0.998 |
| 16:68563996:T:A | F403L | 0.998 |
| 16:68563996:T:G | F403L | 0.998 |
| 16:68564387:T:C | F534L | 0.998 |
| 16:68564389:T:A | F534L | 0.998 |
| 16:68564389:T:G | F534L | 0.998 |
| 16:68564555:T:C | F590L | 0.998 |
| 16:68564557:C:A | F590L | 0.998 |
| 16:68564557:C:G | F590L | 0.998 |
| 16:68558032:T:C | F23S | 0.997 |
| 16:68563771:C:A | H328Q | 0.997 |
| 16:68563771:C:G | H328Q | 0.997 |
| 16:68563776:G:C | R330P | 0.997 |
| 16:68563973:T:C | C396R | 0.997 |
| 16:68564023:T:A | H412Q | 0.997 |
| 16:68564023:T:G | H412Q | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000011007 (16:68554074 A>G), RS1000072919 (16:68540665 A>G,T), RS1000109310 (16:68531554 T>A,G), RS1000244230 (16:68543837 G>A), RS1000329971 (16:68557161 G>T), RS1000384703 (16:68551362 A>C,G), RS1000437001 (16:68551657 C>A,T), RS1000565296 (16:68542616 AGG>A), RS1000615206 (16:68555407 T>G), RS1000853886 (16:68536534 G>A), RS1000873269 (16:68558955 T>C), RS1000908835 (16:68531576 C>T), RS1000915104 (16:68552728 G>A), RS1000924684 (16:68574118 G>A,C), RS1000962430 (16:68531768 A>G)
Disease associations
OMIM: gene MIM:609451 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000885_4 | Response to antipsychotic treatment in schizophrenia (reasoning) | 1.000000e-06 |
| GCST000964_26 | Ulcerative colitis | 4.000000e-08 |
| GCST001352_4 | HIV-1 viral setpoint | 6.000000e-06 |
| GCST001728_15 | Ulcerative colitis | 4.000000e-08 |
| GCST003622_10 | Systemic lupus erythematosus | 4.000000e-08 |
| GCST003622_21 | Systemic lupus erythematosus | 2.000000e-08 |
| GCST004133_66 | Ulcerative colitis | 4.000000e-08 |
| GCST005752_112 | Systemic lupus erythematosus | 4.000000e-11 |
| GCST005752_33 | Systemic lupus erythematosus | 8.000000e-07 |
| GCST011956_103 | Systemic lupus erythematosus | 3.000000e-08 |
| GCST90002381_93 | Eosinophil count | 6.000000e-18 |
| GCST90002382_444 | Eosinophil percentage of white cells | 3.000000e-18 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004350 | reasoning |
| EFO:0006319 | HIV viral set point measurement |
| EFO:0004842 | eosinophil count |
| EFO:0007991 | eosinophil percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, increases expression | 4 |
| sodium arsenite | decreases expression, increases expression | 3 |
| Cisplatin | affects cotreatment, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| bufotalin | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| 2-methyl-4-isothiazolin-3-one | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects 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 | affects cotreatment, decreases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Dactinomycin | increases expression, affects cotreatment | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects expression | 1 |
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.