ZNF692
gene geneOn this page
Also known as FLJ20531Zfp692AREBP
Summary
ZNF692 (zinc finger protein 692, HGNC:26049) is a protein-coding gene on chromosome 1q44, encoding Zinc finger protein 692 (Q9BU19). May act as an transcriptional repressor for PCK1 gene expression, in turn may participate in the hepatic gluconeogenesis regulation through the activated AMPK signaling pathway.
Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II and regulation of gluconeogenesis. Located in nucleolus and nucleoplasm.
Source: NCBI Gene 55657 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 108 total
- Druggable target: yes
- MANE Select transcript:
NM_017865
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26049 |
| Approved symbol | ZNF692 |
| Name | zinc finger protein 692 |
| Location | 1q44 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20531, Zfp692, AREBP |
| Ensembl gene | ENSG00000171163 |
| Ensembl biotype | protein_coding |
| OMIM | 617758 |
| Entrez | 55657 |
Gene structure
Transcript identifiers
Ensembl transcripts: 45 — 20 protein_coding, 13 retained_intron, 9 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined
ENST00000306601, ENST00000366471, ENST00000412341, ENST00000451251, ENST00000462037, ENST00000463519, ENST00000468455, ENST00000470787, ENST00000474351, ENST00000476503, ENST00000477070, ENST00000478107, ENST00000482023, ENST00000483223, ENST00000483791, ENST00000491971, ENST00000495731, ENST00000496053, ENST00000496231, ENST00000496411, ENST00000497847, ENST00000528141, ENST00000530699, ENST00000530986, ENST00000533614, ENST00000533647, ENST00000533927, ENST00000533976, ENST00000534456, ENST00000534660, ENST00000869876, ENST00000869877, ENST00000869878, ENST00000869879, ENST00000869880, ENST00000869881, ENST00000914625, ENST00000914626, ENST00000914627, ENST00000914628, ENST00000964808, ENST00000964809, ENST00000964810, ENST00000964811, ENST00000964812
RefSeq mRNA: 5 — MANE Select: NM_017865
NM_001136036, NM_001193328, NM_001350072, NM_001350073, NM_017865
CCDS: CCDS31127, CCDS44348, CCDS53487
Canonical transcript exons
ENST00000306601 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003458663 | 248850682 | 248850781 |
| ENSE00003482959 | 248855725 | 248855946 |
| ENSE00003516149 | 248856288 | 248856422 |
| ENSE00003530734 | 248853937 | 248854051 |
| ENSE00003532525 | 248855380 | 248855458 |
| ENSE00003580912 | 248856514 | 248856562 |
| ENSE00003586914 | 248858131 | 248858321 |
| ENSE00003640499 | 248857234 | 248857497 |
| ENSE00003679011 | 248855558 | 248855635 |
| ENSE00003692227 | 248857828 | 248857859 |
| ENSE00003899341 | 248850008 | 248850516 |
| ENSE00003899450 | 248858918 | 248859085 |
Expression profiles
Bgee: expression breadth ubiquitous, 280 present calls, max score 98.13.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.1503 / max 129.7001, expressed in 1722 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 18533 | 6.0130 | 1638 |
| 18532 | 1.7417 | 960 |
| 18531 | 1.0071 | 567 |
| 18534 | 0.3731 | 165 |
| 18530 | 0.0154 | 2 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 98.13 | gold quality |
| right uterine tube | UBERON:0001302 | 97.92 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.90 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.79 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.75 | gold quality |
| cerebellum | UBERON:0002037 | 96.69 | gold quality |
| right frontal lobe | UBERON:0002810 | 96.30 | gold quality |
| left testis | UBERON:0004533 | 96.25 | gold quality |
| adenohypophysis | UBERON:0002196 | 96.20 | gold quality |
| right testis | UBERON:0004534 | 96.20 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 96.06 | gold quality |
| pituitary gland | UBERON:0000007 | 95.73 | gold quality |
| apex of heart | UBERON:0002098 | 95.60 | gold quality |
| endocervix | UBERON:0000458 | 95.55 | gold quality |
| body of pancreas | UBERON:0001150 | 95.33 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 95.31 | gold quality |
| body of uterus | UBERON:0009853 | 95.27 | gold quality |
| granulocyte | CL:0000094 | 95.11 | gold quality |
| right ovary | UBERON:0002118 | 95.11 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 95.04 | gold quality |
| left ovary | UBERON:0002119 | 94.95 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 94.92 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 94.92 | gold quality |
| minor salivary gland | UBERON:0001830 | 94.81 | gold quality |
| sural nerve | UBERON:0015488 | 94.71 | gold quality |
| ectocervix | UBERON:0012249 | 94.63 | gold quality |
| cingulate cortex | UBERON:0003027 | 94.48 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 94.48 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 94.46 | gold quality |
| left uterine tube | UBERON:0001303 | 94.41 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.73 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| PCK1 | Repression |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1986.1 | ZNF692 | More than 3 adjacent zinc fingers |
| MA1986.2 | ZNF692 | More than 3 adjacent zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:25690854
miRNA regulators (miRDB)
18 targeting ZNF692, 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-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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-7-5P | 99.67 | 70.53 | 1809 |
| HSA-MIR-452-5P | 99.65 | 69.63 | 1762 |
| HSA-MIR-4676-3P | 99.65 | 69.31 | 1733 |
| HSA-MIR-892C-3P | 99.65 | 69.38 | 1745 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-4646-3P | 98.65 | 66.98 | 693 |
| HSA-MIR-4799-3P | 97.78 | 65.97 | 893 |
| HSA-MIR-3144-5P | 97.64 | 65.45 | 646 |
| HSA-MIR-4720-5P | 97.46 | 65.67 | 893 |
| HSA-MIR-5588-5P | 97.46 | 65.70 | 913 |
| HSA-MIR-4448 | 97.04 | 66.22 | 752 |
| HSA-MIR-6772-3P | 97.04 | 65.89 | 784 |
| HSA-MIR-2355-3P | 96.84 | 68.54 | 909 |
| HSA-MIR-6856-3P | 96.47 | 66.27 | 781 |
Literature-anchored findings (GeneRIF, showing 8)
- cloning and characterization of a novel zinc finger transcription factor referred to as AREBP. AREBP is phosphorylated at Ser(470) by AMPK. (PMID:17097062)
- The results show that ZNF692 is expressed in LUAD tissues compared to adjacent normal tissues, and hyper-expression of ZNF692 in LUAD is an independent risk factor for worse overall survival in LUAD patients (HR: 8.800, 95%CI: 1.082-71.560, P = 0.042) by Tissue Microarray stain assay (TMA). (PMID:28669730)
- ZNF692 promotes CC cells proliferation and invasion through suppressing p27(kip1) transcription by directly binding its promoter region. (PMID:30466806)
- Results found that ZNF692 was upregulated in colon adenocarcinoma (COAD) tissues and cells and that high ZNF692 expression was significantly correlated with lymph node metastasis, distant metastasis and tumor stage in COAD patients. Furthermore, ZNF692 promoted COAD cell proliferation, migration and invasion via the PI3K/AKT pathway, suggesting that ZNF692 may serve as a novel oncogene for COAD. (PMID:30816443)
- Comprehensive analysis of ZNF692 as a potential biomarker associated with immune infiltration in a pan cancer analysis and validation in hepatocellular carcinoma. (PMID:37980166)
- ZNF692 promotes cell proliferation, invasion and migration of human prostate cancer cells by targeting the EMT signaling pathway. (PMID:38291502)
- ZNF692 regulates nucleolar morphology by interacting with NPM1 and modifying its self-assembly properties. (PMID:38382671)
- ZNF692 promotes osteosarcoma cell proliferation, migration, and invasion through TNK2-mediated activation of the MEK/ERK pathway. (PMID:38650011)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zfp692 | ENSMUSG00000037243 |
| rattus_norvegicus | Zfp692 | ENSRNOG00000002682 |
Paralogs (36): ZBTB32 (ENSG00000011590), SNAI2 (ENSG00000019549), PRDM1 (ENSG00000057657), PRDM6 (ENSG00000061455), ZNF76 (ENSG00000065029), PATZ1 (ENSG00000100105), MAZ (ENSG00000103495), ZBTB16 (ENSG00000109906), ZNF451 (ENSG00000112200), ZBTB45 (ENSG00000119574), ZNF410 (ENSG00000119725), SNAI1 (ENSG00000124216), ZNF384 (ENSG00000126746), ZBTB1 (ENSG00000126804), VEZF1 (ENSG00000136451), PRDM14 (ENSG00000147596), ZNF276 (ENSG00000158805), ZNF362 (ENSG00000160094), ZNF653 (ENSG00000161914), ZNF281 (ENSG00000162702), ZNF148 (ENSG00000163848), ZNF143 (ENSG00000166478), HIC2 (ENSG00000169635), PRDM10 (ENSG00000170325), ZNF296 (ENSG00000170684), ZNF575 (ENSG00000176472), HIC1 (ENSG00000177374), ZBTB18 (ENSG00000179456), ZBTB42 (ENSG00000179627), ZBTB20 (ENSG00000181722), ZBTB7C (ENSG00000184828), SNAI3 (ENSG00000185669), ZFP91 (ENSG00000186660), MTF1 (ENSG00000188786), SCRT2 (ENSG00000215397), SCRT1 (ENSG00000261678)
Protein
Protein identifiers
Zinc finger protein 692 — Q9BU19 (reviewed: Q9BU19)
Alternative names: AICAR responsive element binding protein
All UniProt accessions (8): E7ET73, E9PLQ5, E9PLQ7, E9PRH5, Q9BU19, H0YCH4, H0YDF5, H0YEY1
UniProt curated annotations — full annotation on UniProt →
Function. May act as an transcriptional repressor for PCK1 gene expression, in turn may participate in the hepatic gluconeogenesis regulation through the activated AMPK signaling pathway.
Subcellular location. Nucleus.
Tissue specificity. Ubiquitous. Highly expressed in brain, thymus and spleen.
Post-translational modifications. Phosphorylation at Ser-470 results in loss of DNA-binding activity.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BU19-1 | 1 | yes |
| Q9BU19-2 | 2 | |
| Q9BU19-3 | 3 | |
| Q9BU19-4 | 4 | |
| Q9BU19-5 | 5 |
RefSeq proteins (5): NP_001129508, NP_001180257, NP_001337001, NP_001337002, NP_060335* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR050888 | ZnF_C2H2-type_TF | Family |
Pfam: PF00096
UniProt features (49 total): compositionally biased region 7, mutagenesis site 6, strand 6, zinc finger region 5, splice variant 5, turn 5, helix 5, modified residue 3, sequence conflict 3, region of interest 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6H0G | X-RAY DIFFRACTION | 4.25 |
| 2D9H | SOLUTION NMR | |
| 2DLK | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BU19-F1 | 54.32 | 0.00 |
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 (3): 162, 231, 470
Mutagenesis-validated functional residues (6):
| Position | Phenotype |
|---|---|
| 62 | does not affect phosphorylation by ampk. |
| 63 | does not affect phosphorylation by ampk. |
| 386 | does not affect phosphorylation by ampk. |
| 402 | does not affect phosphorylation by ampk. |
| 442 | does not affect phosphorylation by ampk. |
| 470 | reduces phosphorylation by ampk. does not affect dna binding. does not repress transcription of pck1. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 111 (showing top):
GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_MONOSACCHARIDE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_REGULATION_OF_GLUCOSE_METABOLIC_PROCESS, GOBP_GLUCOSE_METABOLIC_PROCESS, GOBP_REGULATION_OF_CARBOHYDRATE_BIOSYNTHETIC_PROCESS, GOBP_MONOSACCHARIDE_METABOLIC_PROCESS, chr1q44, CUI_TCF21_TARGETS_2_UP, GOBP_REGULATION_OF_GLUCONEOGENESIS, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, GOCC_NUCLEOLUS, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN
GO Biological Process (5): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of gluconeogenesis (GO:0006111), regulation of transcription by RNA polymerase II (GO:0006357), regulation of macromolecule metabolic process (GO:0060255), regulation of primary metabolic process (GO:0080090)
GO Molecular Function (7): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (3): nucleoplasm (GO:0005654), nucleolus (GO:0005730), 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 |
|---|---|
| transcription by RNA polymerase II | 2 |
| regulation of DNA-templated transcription | 2 |
| regulation of metabolic process | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| nuclear lumen | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| gluconeogenesis | 1 |
| regulation of glucose metabolic process | 1 |
| regulation of carbohydrate biosynthetic process | 1 |
| macromolecule metabolic process | 1 |
| primary metabolic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 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 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| transition metal ion binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
946 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF692 | HNRNPD | P07029 | 626 |
| ZNF692 | CRBN | Q96SW2 | 609 |
| ZNF692 | KHSRP | Q92945 | 597 |
| ZNF692 | ELAVL1 | Q15717 | 580 |
| ZNF692 | ZFP36 | P26651 | 573 |
| ZNF692 | RNF166 | Q96A37 | 550 |
| ZNF692 | DDX6 | P26196 | 453 |
| ZNF692 | TIAL1 | Q01085 | 447 |
| ZNF692 | CENPA | P49450 | 446 |
| ZNF692 | GON4L | Q3T8J9 | 438 |
| ZNF692 | ZFP36L1 | Q07352 | 435 |
| ZNF692 | TIA1 | P31483 | 417 |
| ZNF692 | UQCC1 | Q9NVA1 | 404 |
| ZNF692 | ZNF827 | Q17R98 | 401 |
| ZNF692 | FXR1 | P51114 | 400 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KAT5 | ZNF692 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STAT2 | INPPL1 | psi-mi:“MI:0914”(association) | 0.530 |
| NPM1 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF692 | NSD2 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF692 | IFI30 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF692 | HIBADH | psi-mi:“MI:0914”(association) | 0.350 |
| CDC25B | ZNF692 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF692 | U2SURP | psi-mi:“MI:0914”(association) | 0.350 |
| KAT5 | ZNF692 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (65): ZNF692 (Affinity Capture-MS), RPS26P11 (Affinity Capture-MS), KBTBD8 (Affinity Capture-MS), RAD18 (Affinity Capture-MS), NSD1 (Affinity Capture-MS), FBXO11 (Affinity Capture-MS), HIBADH (Affinity Capture-MS), MGA (Affinity Capture-MS), POLR1E (Affinity Capture-MS), C18orf25 (Affinity Capture-MS), RPL26L1 (Affinity Capture-MS), SPTY2D1 (Affinity Capture-MS), IMP4 (Affinity Capture-MS), WHSC1 (Affinity Capture-MS), DDX24 (Affinity Capture-MS)
ESM2 similar proteins: A0JNJ4, A2APT9, A6NEL2, A6NP61, B1ASB6, B1WBS3, B2RXF5, F6WEQ6, O15015, O43918, O88282, O88286, O95785, P98168, P98169, Q2M3G4, Q2MHN3, Q2QGD7, Q3U1J1, Q3U381, Q497V6, Q5SW24, Q5SXM2, Q6YND2, Q6ZMQ8, Q6ZMY3, Q7TN08, Q7TSX9, Q80SU3, Q80YE4, Q811H0, Q8BG26, Q8BZW2, Q8C8V1, Q8IX07, Q8IY92, Q8N143, Q8N1G0, Q8NC74, Q8TBE0
Diamond homologs: A0JNJ4, F6WEQ6, Q3U381, Q62511, Q96JP5, Q9BU19, Q6YND2, Q96CK0
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ZNF692 | “down-regulates quantity by repression” | PCK1 | “transcriptional regulation” |
| PRKAA1 | down-regulates | ZNF692 | phosphorylation |
| AMPK | down-regulates | ZNF692 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
108 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 86 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1982 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:248850514:CAC:C | acceptor_gain | 1.0000 |
| 1:248850681:CTG:C | donor_gain | 1.0000 |
| 1:248853936:CCA:C | donor_gain | 1.0000 |
| 1:248854050:TG:T | acceptor_gain | 1.0000 |
| 1:248855391:G:GA | donor_gain | 1.0000 |
| 1:248855942:CACTA:C | acceptor_gain | 1.0000 |
| 1:248855944:CTA:C | acceptor_gain | 1.0000 |
| 1:248855945:TA:T | acceptor_gain | 1.0000 |
| 1:248855945:TACTG:T | acceptor_loss | 1.0000 |
| 1:248855946:ACTGA:A | acceptor_loss | 1.0000 |
| 1:248855947:C:A | acceptor_loss | 1.0000 |
| 1:248855947:C:CC | acceptor_gain | 1.0000 |
| 1:248855948:T:C | acceptor_loss | 1.0000 |
| 1:248856270:C:CA | donor_gain | 1.0000 |
| 1:248858182:T:TA | donor_gain | 1.0000 |
| 1:248850512:CACAC:C | acceptor_gain | 0.9900 |
| 1:248850517:C:CG | acceptor_loss | 0.9900 |
| 1:248850524:C:CT | acceptor_gain | 0.9900 |
| 1:248850525:A:T | acceptor_gain | 0.9900 |
| 1:248850530:C:CT | acceptor_gain | 0.9900 |
| 1:248850681:CTGCA:C | donor_gain | 0.9900 |
| 1:248850782:C:CC | acceptor_gain | 0.9900 |
| 1:248853932:CTCA:C | donor_loss | 0.9900 |
| 1:248853933:TCACC:T | donor_loss | 0.9900 |
| 1:248853934:C:CG | donor_loss | 0.9900 |
| 1:248853935:A:AC | donor_gain | 0.9900 |
| 1:248853936:C:CC | donor_gain | 0.9900 |
| 1:248854047:TGGTG:T | acceptor_gain | 0.9900 |
| 1:248854048:GGTG:G | acceptor_gain | 0.9900 |
| 1:248854050:TGCTA:T | acceptor_loss | 0.9900 |
AlphaMissense
3374 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:248850741:G:C | F398L | 1.000 |
| 1:248850741:G:T | F398L | 1.000 |
| 1:248850743:A:G | F398L | 1.000 |
| 1:248850467:G:C | H435D | 0.999 |
| 1:248850498:A:C | F424L | 0.999 |
| 1:248850498:A:T | F424L | 0.999 |
| 1:248850500:A:G | F424L | 0.999 |
| 1:248850515:A:G | C419R | 0.999 |
| 1:248850702:G:C | H411Q | 0.999 |
| 1:248850702:G:T | H411Q | 0.999 |
| 1:248850704:G:C | H411D | 0.999 |
| 1:248850709:C:G | R409P | 0.999 |
| 1:248850716:G:C | H407D | 0.999 |
| 1:248850724:A:G | L404P | 0.999 |
| 1:248850742:A:G | F398S | 0.999 |
| 1:248850753:G:C | C394W | 0.999 |
| 1:248850754:C:T | C394Y | 0.999 |
| 1:248850755:A:G | C394R | 0.999 |
| 1:248850764:A:G | C391R | 0.999 |
| 1:248853953:G:C | H379Q | 0.999 |
| 1:248853953:G:T | H379Q | 0.999 |
| 1:248853963:A:G | L376P | 0.999 |
| 1:248853974:A:C | F372L | 0.999 |
| 1:248853974:A:T | F372L | 0.999 |
| 1:248853976:A:G | F372L | 0.999 |
| 1:248853980:G:C | F370L | 0.999 |
| 1:248853980:G:T | F370L | 0.999 |
| 1:248853982:A:G | F370L | 0.999 |
| 1:248854009:A:G | C361R | 0.999 |
| 1:248855401:G:C | F339L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000226515 (1:248852938 G>A), RS1000342818 (1:248858991 A>T), RS1000451652 (1:248851928 C>A), RS1000855712 (1:248858883 G>A), RS1002031902 (1:248850576 G>A), RS1002103742 (1:248856607 G>C), RS1002116825 (1:248852004 G>A,C), RS1002178502 (1:248858360 C>G,T), RS1002192623 (1:248853386 C>T), RS1002433419 (1:248857033 T>C), RS1002693018 (1:248853421 C>T), RS1002766164 (1:248859214 C>T), RS1002792640 (1:248854807 G>C,T), RS1002848206 (1:248860235 T>C), RS1002871794 (1:248853595 A>T)
Disease associations
OMIM: gene MIM:617758 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009560_3 | Decreased low contrast letter acuity in multiple sclerosis | 2.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008385 | visual acuity measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4879533 (PROTEIN-PROTEIN INTERACTION)
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 |
|---|---|---|
| bisphenol S | affects cotreatment, decreases expression, decreases methylation | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Valproic Acid | decreases expression | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| lead acetate | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| sodium arsenite | decreases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Vorinostat | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Caffeine | increases phosphorylation | 1 |
| Cisplatin | increases expression, affects cotreatment | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Polychlorinated Biphenyls | affects expression | 1 |
| Selenium | affects cotreatment, decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Thalidomide | decreases expression, increases degradation | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Vincristine | decreases expression | 1 |
| Vitamin E | affects cotreatment, decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4822142 | Binding | Protac activity at CRBN/ZNF692 in human Kelly cells assessed as induction of ZNF692 degradation by measuring downregulation of ZNF692 protein expression at 1 uM measured after 5 hrs by proteomics analysis based LC-MS analysis | A biphenyl inhibitor of eIF4E targeting an internal binding site enables the design of cell-permeable PROTAC-degraders. — Eur J Med Chem |
Cellosaurus cell lines
2 cell lines: 1 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2LX | Abcam HeLa ZNF692 KO | Cancer cell line | Female |
| CVCL_XW76 | HEK293 eGFP-ZNF692 | 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.