ZNF764
gene geneOn this page
Also known as MGC13138
Summary
ZNF764 (zinc finger protein 764, HGNC:28200) is a protein-coding gene on chromosome 16p11.2, encoding Zinc finger protein 764 (Q96H86). Zinc finger protein that functions as a cofactor for steroid hormone receptors, such as NR3C1/GR.
Enables transcription coregulator activity. Involved in cellular response to glucocorticoid stimulus. Is active in nucleus.
Source: NCBI Gene 92595 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 87 total
- MANE Select transcript:
NM_001172679
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28200 |
| Approved symbol | ZNF764 |
| Name | zinc finger protein 764 |
| Location | 16p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC13138 |
| Ensembl gene | ENSG00000169951 |
| Ensembl biotype | protein_coding |
| OMIM | 619524 |
| Entrez | 92595 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 retained_intron
ENST00000252797, ENST00000395091, ENST00000568333, ENST00000952475
RefSeq mRNA: 2 — MANE Select: NM_001172679
NM_001172679, NM_033410
CCDS: CCDS10683, CCDS54001
Canonical transcript exons
ENST00000395091 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000895848 | 30557733 | 30557846 |
| ENSE00001520569 | 30553764 | 30556107 |
| ENSE00002603753 | 30557987 | 30558374 |
Expression profiles
Bgee: expression breadth ubiquitous, 242 present calls, max score 82.96.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.8558 / max 108.5483, expressed in 1687 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 157065 | 3.7154 | 1516 |
| 157064 | 0.8187 | 484 |
| 157066 | 0.7015 | 363 |
| 157063 | 0.6203 | 356 |
Top tissues by expression
282 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.96 | gold quality |
| apex of heart | UBERON:0002098 | 78.16 | gold quality |
| body of stomach | UBERON:0001161 | 77.55 | gold quality |
| cortical plate | UBERON:0005343 | 77.42 | gold quality |
| granulocyte | CL:0000094 | 77.20 | gold quality |
| ganglionic eminence | UBERON:0004023 | 77.01 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 76.55 | gold quality |
| heart left ventricle | UBERON:0002084 | 76.23 | gold quality |
| amniotic fluid | UBERON:0000173 | 76.03 | gold quality |
| stromal cell of endometrium | CL:0002255 | 75.67 | gold quality |
| cardiac ventricle | UBERON:0002082 | 75.54 | gold quality |
| stomach | UBERON:0000945 | 75.38 | gold quality |
| hair follicle | UBERON:0002073 | 75.15 | silver quality |
| ventricular zone | UBERON:0003053 | 74.97 | gold quality |
| ovary | UBERON:0000992 | 74.94 | gold quality |
| left ovary | UBERON:0002119 | 74.89 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 74.80 | gold quality |
| transverse colon | UBERON:0001157 | 74.79 | gold quality |
| secondary oocyte | CL:0000655 | 74.74 | gold quality |
| right lobe of liver | UBERON:0001114 | 74.72 | gold quality |
| right atrium auricular region | UBERON:0006631 | 74.72 | gold quality |
| right ovary | UBERON:0002118 | 74.58 | gold quality |
| bronchial epithelial cell | CL:0002328 | 74.48 | gold quality |
| tibia | UBERON:0000979 | 74.22 | gold quality |
| body of uterus | UBERON:0009853 | 74.18 | gold quality |
| endocervix | UBERON:0000458 | 74.11 | gold quality |
| right adrenal gland | UBERON:0001233 | 74.07 | gold quality |
| blood | UBERON:0000178 | 74.03 | gold quality |
| left adrenal gland | UBERON:0001234 | 73.82 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 73.76 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.33 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): STAT1
miRNA regulators (miRDB)
54 targeting ZNF764, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| 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-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-10394-5P | 99.65 | 66.83 | 1852 |
| HSA-MIR-1205 | 99.65 | 66.76 | 1826 |
| HSA-MIR-1290 | 99.59 | 69.90 | 2079 |
| HSA-MIR-5004-3P | 99.54 | 68.27 | 1371 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-671-5P | 99.52 | 67.11 | 1277 |
| HSA-MIR-766-3P | 99.47 | 65.24 | 1811 |
| HSA-MIR-508-5P | 99.41 | 64.25 | 1248 |
Literature-anchored findings (GeneRIF, showing 1)
- effect of ZNF764 on the glucocorticoid receptor transcriptional activity was mediated through cooperation with a general nuclear hormone receptor coactivator, transcriptional intermediary factor 1 (PMID:22577170)
Cross-species orthologs
19 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf646 | ENSDARG00000061424 |
| danio_rerio | si:dkey-89b17.4 | ENSDARG00000075545 |
| danio_rerio | zgc:66472 | ENSDARG00000075916 |
| danio_rerio | si:ch211-148l7.4 | ENSDARG00000094469 |
| danio_rerio | znf576.1 | ENSDARG00000097819 |
| mus_musculus | Zfp764 | ENSMUSG00000045757 |
| mus_musculus | Zfp764l1 | ENSMUSG00000078580 |
| rattus_norvegicus | Zfp764 | ENSRNOG00000031003 |
| rattus_norvegicus | Zfp764l1 | ENSRNOG00000046480 |
| drosophila_melanogaster | az2 | FBGN0025185 |
| drosophila_melanogaster | CG2129 | FBGN0030008 |
| drosophila_melanogaster | CG1602 | FBGN0033186 |
| drosophila_melanogaster | CG18011 | FBGN0033491 |
| drosophila_melanogaster | CG12942 | FBGN0033569 |
| drosophila_melanogaster | indra | FBGN0035213 |
| drosophila_melanogaster | CG30020 | FBGN0050020 |
| drosophila_melanogaster | mld | FBGN0263490 |
| caenorhabditis_elegans | ztf-15 | WBGENE00011066 |
| caenorhabditis_elegans | WBGENE00015649 |
Paralogs (36): ZNF302 (ENSG00000089335), ZNF184 (ENSG00000096654), CTCF (ENSG00000102974), ZNF574 (ENSG00000105732), ZBTB24 (ENSG00000112365), ZNF142 (ENSG00000115568), CTCFL (ENSG00000124092), ZNF473 (ENSG00000142528), ZNF827 (ENSG00000151612), ZNF689 (ENSG00000156853), ZNF208 (ENSG00000160321), ZNF91 (ENSG00000167232), ZNF526 (ENSG00000167625), 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 764 — Q96H86 (reviewed: Q96H86)
All UniProt accessions (1): Q96H86
UniProt curated annotations — full annotation on UniProt →
Function. Zinc finger protein that functions as a cofactor for steroid hormone receptors, such as NR3C1/GR. Directs NR3C1/GR transcriptional activity toward specific biologic pathways by changing NR3C1/GR binding and transcriptional activity on the glucocorticoid-responsive genes.
Subunit / interactions. Interacts (via KRAB domain) with NR3C1/GR (via NR LBD domain); the interaction regulates transcription factor activity of NR3C1 by directing its actions toward certain biologic pathways.
Subcellular location. Nucleus.
Domain organisation. The KRAB domain and the zinc finger domain are both necessary for the regulation of NR3C1/GR transcriptional activity.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96H86-1 | 1 | yes |
| Q96H86-2 | 2 |
RefSeq proteins (2): NP_001166150, NP_219363 (=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 |
| IPR050758 | Znf_C2H2-type | Family |
Pfam: PF00096, PF01352
UniProt features (13 total): zinc finger region 7, chain 1, domain 1, splice variant 1, sequence variant 1, sequence conflict 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96H86-F1 | 70.94 | 0.33 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 99 (showing top):
GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_RESPONSE_TO_CORTICOSTEROID, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS, GOBP_CELLULAR_RESPONSE_TO_CORTICOSTEROID_STIMULUS, chr16p11, GOBP_RESPONSE_TO_STEROID_HORMONE, GOBP_RESPONSE_TO_HORMONE, GOBP_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_STEROID_HORMONE_STIMULUS, GCCATNTTG_YY1_Q6, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, MODULE_37, GOMF_TRANSCRIPTION_COREGULATOR_ACTIVITY
GO Biological Process (3): regulation of transcription by RNA polymerase II (GO:0006357), cellular response to glucocorticoid stimulus (GO:0071385), regulation of DNA-templated transcription (GO:0006355)
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), transcription coregulator activity (GO:0003712), 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 | 1 |
| transcription by RNA polymerase II | 1 |
| response to glucocorticoid | 1 |
| cellular response to corticosteroid stimulus | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| transcription cis-regulatory region binding | 1 |
| chromatin | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription regulator 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
622 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF764 | ZNF654 | Q8IZM8 | 540 |
| ZNF764 | GTF3C1 | Q12789 | 509 |
| ZNF764 | BEST2 | Q8NFU1 | 504 |
| ZNF764 | GPR153 | Q6NV75 | 499 |
| ZNF764 | PAFAH1B3 | Q15102 | 491 |
| ZNF764 | BRICD5 | Q6PL45 | 446 |
| ZNF764 | BEST1 | O76090 | 421 |
| ZNF764 | SETDB1 | Q15047 | 405 |
| ZNF764 | CCDC61 | Q9Y6R9 | 400 |
| ZNF764 | NRIP1 | P48552 | 395 |
| ZNF764 | TIMELESS | Q9UNS1 | 349 |
| ZNF764 | GABPA | Q06546 | 343 |
| ZNF764 | ZNF592 | Q92610 | 333 |
| ZNF764 | TSKS | Q9UJT2 | 324 |
| ZNF764 | ARK2N | Q96B23 | 323 |
IntAct
106 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZNF764 | SUFU | psi-mi:“MI:0915”(physical association) | 0.880 |
| SUFU | ZNF764 | psi-mi:“MI:0915”(physical association) | 0.880 |
| ZNF764 | MDFI | psi-mi:“MI:0915”(physical association) | 0.670 |
| MDFI | ZNF764 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ZNF764 | ZNF316 | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF764 | KRTAP2-4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF764 | ZRANB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF764 | PICK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC125 | ZNF764 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MTUS2 | ZNF764 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-7 | ZNF764 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CBY2 | ZNF764 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP1-3 | ZNF764 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF764 | ZNF408 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA6L9 | ZNF764 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF764 | MID2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF764 | HOOK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF837 | ZNF764 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF764 | KRTAP4-4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | ZNF764 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KPNA3 | ZNF764 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DVL3 | ZNF764 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP12-2 | ZNF764 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF764 | ZNF330 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPP1R37 | ZNF764 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HNRNPF | ZNF764 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLK2 | ZNF764 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF764 | ARMC7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DTX2 | ZNF764 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FHL5 | ZNF764 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (127): ZNF764 (Two-hybrid), ZNF764 (Two-hybrid), ZNF764 (Two-hybrid), ZNF764 (Two-hybrid), ZNF764 (Two-hybrid), ZNF764 (Synthetic Growth Defect), SH3PXD2A (Affinity Capture-MS), NEBL (Affinity Capture-MS), SUFU (Affinity Capture-MS), ZNF764 (Affinity Capture-MS), SH3PXD2B (Affinity Capture-MS), TRIM39 (Affinity Capture-MS), USP34 (Affinity Capture-MS), GNE (Affinity Capture-MS), SMARCAD1 (Affinity Capture-MS)
ESM2 similar proteins: A2CE44, A6NFI3, A6NM28, A8K8V0, O15370, O70218, O95201, P0CJ78, P10075, P10754, P28698, P70338, Q04890, Q07120, Q14V87, Q19A40, Q569E7, Q58DK7, Q5DWN0, Q5FWU5, Q5RJR4, Q5T619, Q5TEC3, Q6DD87, Q6IQX8, Q6PD29, Q6PGE4, Q6ZMY9, Q7Z7K2, Q80VM4, Q8BIF9, Q8JZL0, Q8N8E2, Q8NAF0, Q8NCA9, Q8TD94, Q8WUU4, Q96C55, Q96H86, Q96MX3
Diamond homologs: A0JPL0, A2A761, A3KN32, A3KN36, A6NFI3, A6NM28, A6QLU5, A6QPT6, A7MBI1, A8MTY0, B2RXC5, B4DU55, E9PYI1, O14978, O60765, O75467, O75820, O95780, P0C7X2, P0DKX0, P0DPD5, P10072, P15622, P16374, P17014, P17023, P17032, P17098, P51523, P51786, P52738, P52742, Q02975, Q06732, Q08DG8, Q08ER8, Q0VCB0, Q14590, Q14929, Q29RZ4
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 45 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 |
|---|---|---|---|
| Keratinization | 6 | 15.2× | 2e-04 |
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 | 78 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
393 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:30557981:TCTCA:T | donor_loss | 1.0000 |
| 16:30557982:CTCAC:C | donor_loss | 1.0000 |
| 16:30557983:TCAC:T | donor_loss | 1.0000 |
| 16:30557984:CACCG:C | donor_loss | 1.0000 |
| 16:30557985:A:AC | donor_gain | 1.0000 |
| 16:30557985:A:T | donor_loss | 1.0000 |
| 16:30557986:C:A | donor_loss | 1.0000 |
| 16:30557986:C:CC | donor_gain | 1.0000 |
| 16:30557986:C:CG | donor_loss | 1.0000 |
| 16:30555200:ACACT:A | donor_gain | 0.9900 |
| 16:30555201:CACTC:C | donor_gain | 0.9900 |
| 16:30555334:A:AC | donor_gain | 0.9900 |
| 16:30555335:C:CC | donor_gain | 0.9900 |
| 16:30556105:AATC:A | acceptor_loss | 0.9900 |
| 16:30556106:AT:A | acceptor_loss | 0.9900 |
| 16:30556106:ATCTG:A | acceptor_gain | 0.9900 |
| 16:30556107:TCTGC:T | acceptor_gain | 0.9900 |
| 16:30556108:C:CG | acceptor_loss | 0.9900 |
| 16:30556108:CTG:C | acceptor_gain | 0.9900 |
| 16:30556108:CTGCT:C | acceptor_gain | 0.9900 |
| 16:30556109:T:G | acceptor_loss | 0.9900 |
| 16:30556111:C:CC | acceptor_gain | 0.9900 |
| 16:30557729:C:CA | donor_gain | 0.9900 |
| 16:30556107:TCTG:T | acceptor_loss | 0.9800 |
| 16:30556108:CTGC:C | acceptor_loss | 0.9800 |
| 16:30556109:TGCTG:T | acceptor_loss | 0.9800 |
| 16:30556110:GC:G | acceptor_loss | 0.9800 |
| 16:30556111:C:A | acceptor_loss | 0.9800 |
| 16:30556112:T:G | acceptor_loss | 0.9800 |
| 16:30557602:AG:A | donor_gain | 0.9800 |
AlphaMissense
2620 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:30555449:G:C | F324L | 0.999 |
| 16:30555449:G:T | F324L | 0.999 |
| 16:30555451:A:G | F324L | 0.999 |
| 16:30555533:G:C | F296L | 0.999 |
| 16:30555533:G:T | F296L | 0.999 |
| 16:30555535:A:G | F296L | 0.999 |
| 16:30555617:G:C | F268L | 0.999 |
| 16:30555617:G:T | F268L | 0.999 |
| 16:30555619:A:G | F268L | 0.999 |
| 16:30555701:G:C | F240L | 0.999 |
| 16:30555701:G:T | F240L | 0.999 |
| 16:30555703:A:G | F240L | 0.999 |
| 16:30555785:G:C | F212L | 0.999 |
| 16:30555785:G:T | F212L | 0.999 |
| 16:30555787:A:G | F212L | 0.999 |
| 16:30555869:A:C | F184L | 0.999 |
| 16:30555869:A:T | F184L | 0.999 |
| 16:30555871:A:G | F184L | 0.999 |
| 16:30555618:A:G | F268S | 0.998 |
| 16:30555674:G:C | H249Q | 0.998 |
| 16:30555674:G:T | H249Q | 0.998 |
| 16:30555830:G:C | H197Q | 0.998 |
| 16:30555830:G:T | H197Q | 0.998 |
| 16:30555365:A:C | F352L | 0.997 |
| 16:30555365:A:T | F352L | 0.997 |
| 16:30555367:A:G | F352L | 0.997 |
| 16:30555410:G:C | H337Q | 0.997 |
| 16:30555410:G:T | H337Q | 0.997 |
| 16:30555662:G:C | H253Q | 0.997 |
| 16:30555662:G:T | H253Q | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000507027 (16:30556394 C>A), RS1000960590 (16:30557147 A>T), RS1001727539 (16:30556653 T>C), RS1002504999 (16:30554273 G>A), RS1002800907 (16:30557525 CAG>C), RS1003100927 (16:30557785 A>T), RS1003199830 (16:30553841 T>C), RS1003694715 (16:30558611 C>T), RS1003790302 (16:30557760 C>A), RS1004234925 (16:30558469 C>G,T), RS1005093548 (16:30553968 C>T), RS1005228289 (16:30560348 A>C,G), RS1006009604 (16:30555515 CAGGTCCG>C), RS1006229108 (16:30559028 T>C), RS1006285564 (16:30560121 C>T)
Disease associations
OMIM: gene MIM:619524 | 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
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| Silicon Dioxide | decreases expression, increases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| dicrotophos | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| titanium dioxide | decreases expression | 1 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance | 1 |
| cobaltous chloride | increases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| ferrous chloride | decreases expression | 1 |
| N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Formaldehyde | decreases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Smoke | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Zinc Sulfate | increases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TZ46 | HAP1 ZNF764 (-) 1 | Cancer cell line | Male |
| CVCL_TZ47 | HAP1 ZNF764 (-) 2 | Cancer cell line | Male |
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.