ZNF70
gene geneOn this page
Also known as Cos17MGC48959
Summary
ZNF70 (zinc finger protein 70, HGNC:13140) is a protein-coding gene on chromosome 22q11.23, encoding Zinc finger protein 70 (Q9UC06). May be involved in transcriptional regulation.
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in cytoplasm and megasporocyte nucleus.
Source: NCBI Gene 7621 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 88 total
- MANE Select transcript:
NM_021916
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13140 |
| Approved symbol | ZNF70 |
| Name | zinc finger protein 70 |
| Location | 22q11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Cos17, MGC48959 |
| Ensembl gene | ENSG00000187792 |
| Ensembl biotype | protein_coding |
| OMIM | 194544 |
| Entrez | 7621 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 5 protein_coding
ENST00000341976, ENST00000871908, ENST00000871909, ENST00000871910, ENST00000964215
RefSeq mRNA: 1 — MANE Select: NM_021916
NM_021916
CCDS: CCDS13812
Canonical transcript exons
ENST00000341976 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001383235 | 23738682 | 23745219 |
| ENSE00001400017 | 23750711 | 23751112 |
Expression profiles
Bgee: expression breadth ubiquitous, 200 present calls, max score 81.77.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.3817 / max 146.6726, expressed in 1659 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 193328 | 5.8075 | 1455 |
| 193327 | 0.4625 | 276 |
| 193326 | 0.1116 | 67 |
Top tissues by expression
238 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibia | UBERON:0000979 | 81.77 | gold quality |
| tibialis anterior | UBERON:0001385 | 80.29 | silver quality |
| corpus epididymis | UBERON:0004359 | 77.53 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 77.10 | gold quality |
| ileal mucosa | UBERON:0000331 | 76.43 | gold quality |
| parietal pleura | UBERON:0002400 | 76.23 | gold quality |
| stromal cell of endometrium | CL:0002255 | 75.88 | gold quality |
| visceral pleura | UBERON:0002401 | 74.61 | gold quality |
| secondary oocyte | CL:0000655 | 74.50 | silver quality |
| germinal epithelium of ovary | UBERON:0001304 | 73.60 | silver quality |
| caput epididymis | UBERON:0004358 | 73.57 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 72.12 | gold quality |
| ventricular zone | UBERON:0003053 | 71.87 | gold quality |
| bone marrow cell | CL:0002092 | 71.65 | silver quality |
| palpebral conjunctiva | UBERON:0001812 | 71.36 | gold quality |
| lower lobe of lung | UBERON:0008949 | 71.13 | gold quality |
| bronchial epithelial cell | CL:0002328 | 70.95 | gold quality |
| cortical plate | UBERON:0005343 | 70.69 | gold quality |
| ganglionic eminence | UBERON:0004023 | 70.55 | gold quality |
| bronchus | UBERON:0002185 | 70.23 | gold quality |
| calcaneal tendon | UBERON:0003701 | 70.19 | gold quality |
| muscle of leg | UBERON:0001383 | 69.75 | gold quality |
| gastrocnemius | UBERON:0001388 | 69.72 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 69.19 | gold quality |
| sural nerve | UBERON:0015488 | 69.09 | gold quality |
| ovary | UBERON:0000992 | 69.02 | gold quality |
| oviduct epithelium | UBERON:0004804 | 68.88 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 68.83 | gold quality |
| right ovary | UBERON:0002118 | 68.51 | gold quality |
| cartilage tissue | UBERON:0002418 | 68.43 | silver quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6379 | no | 9.04 |
| E-ANND-3 | no | 4.21 |
Regulation
Is transcription factor: yes
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA2565.1 | ZNF70 | More than 3 adjacent zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:39605368
miRNA regulators (miRDB)
62 targeting ZNF70, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-498-5P | 99.76 | 69.64 | 1807 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| 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-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-4663 | 99.62 | 65.33 | 957 |
| HSA-MIR-4743-3P | 99.62 | 68.12 | 2095 |
| HSA-MIR-105-5P | 99.54 | 69.24 | 2060 |
| HSA-MIR-7853-5P | 99.54 | 69.30 | 2055 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
Literature-anchored findings (GeneRIF, showing 3)
- We demonstrated that ZNF70 interacts with ZFP64 and activates HES1 transcription by binding to the HES1 promoter. In addition, HES1 gene expression is increased in ILDR2-knockdown HepG2 cells, in which ZNF70 is translocated from the cytoplasm to the nucleus, suggesting that ZNF70 migration to the nucleus after dissociating from the ILDR2-ZNF70 complex activates HES1 transcription. These results support a novel link betwee (PMID:27353377)
- miRNA-574-5p downregulates ZNF70 and influences the progression of human esophageal squamous cell carcinoma through reactive oxygen species generation and MAPK pathway activation. (PMID:32053575)
- ZNF70 regulates IL-1beta secretion of macrophages to promote the proliferation of HCT116 cells via activation of NLRP3 inflammasome and STAT3 pathway in colitis-associated colorectal cancer. (PMID:38000525)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| 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), ZFP90 (ENSG00000184939), ZNF566 (ENSG00000186017), ZNF529 (ENSG00000186020), ZNF749 (ENSG00000186230), ZNF555 (ENSG00000186300)
Protein
Protein identifiers
Zinc finger protein 70 — Q9UC06 (reviewed: Q9UC06)
Alternative names: Zinc finger protein N27C7-1
All UniProt accessions (1): Q9UC06
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in transcriptional regulation.
Subcellular location. Nucleus.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
RefSeq proteins (1): NP_068735* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
Pfam: PF00096, PF13465
UniProt features (13 total): zinc finger region 11, chain 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UC06-F1 | 71.85 | 0.42 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 40 (showing top):
AP2_Q3, ZHAN_MULTIPLE_MYELOMA_CD1_UP, HEN1_01, ELK1_01, CETS1P54_01, SENESE_HDAC3_TARGETS_DN, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, SCGGAAGY_ELK1_02, HNF4ALPHA_Q6, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, CIITA_TARGET_GENES, FOXD2_TARGET_GENES, ID1_TARGET_GENES, MIR1323
GO Biological Process (1): regulation of transcription by RNA polymerase II (GO:0006357)
GO Molecular Function (6): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), megasporocyte nucleus (GO:0043076)
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 |
| 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 |
| transition metal ion binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| nucleus | 1 |
Protein interactions and networks
STRING
438 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF70 | C9JR48 | C9JR48 | 930 |
| ZNF70 | DRICH1 | Q6PGQ1 | 581 |
| ZNF70 | LRRC75B | Q2VPJ9 | 571 |
| ZNF70 | C22orf15 | Q8WYQ4 | 527 |
| ZNF70 | WDTC1 | Q8N5D0 | 493 |
| ZNF70 | RNF126 | Q9BV68 | 474 |
| ZNF70 | DNASE2 | O00115 | 454 |
| ZNF70 | RGL4 | Q8IZJ4 | 447 |
| ZNF70 | DEFA4 | P12838 | 444 |
| ZNF70 | PGAM5 | Q96HS1 | 416 |
| ZNF70 | CD37 | P11049 | 412 |
| ZNF70 | KIAA1671 | Q9BY89 | 410 |
| ZNF70 | CCDC34 | Q96HJ3 | 406 |
| ZNF70 | TICAM1 | Q8IUC6 | 400 |
| ZNF70 | GUCD1 | Q96NT3 | 393 |
IntAct
39 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| H1-1 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF71 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL30 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| E4F1 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| THAP3 | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| NIFK | RSL1D1 | psi-mi:“MI:0914”(association) | 0.530 |
| H1-1 | SURF6 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF70 | ZFP64 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZC3H3 | ANKHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| DGCR8 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
| NIFK | RRP8 | psi-mi:“MI:0914”(association) | 0.350 |
| SRP14 | RPSA2 | psi-mi:“MI:0914”(association) | 0.350 |
| RPS19 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL36 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL28 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| PRR3 | ZNF316 | psi-mi:“MI:0914”(association) | 0.350 |
| CBX6 | ZNF316 | psi-mi:“MI:0914”(association) | 0.350 |
| RPS6 | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
| RPL19 | psi-mi:“MI:0914”(association) | 0.350 | |
| RPL17 | psi-mi:“MI:0914”(association) | 0.350 | |
| UTP23 | psi-mi:“MI:0914”(association) | 0.350 | |
| SRSF4 | psi-mi:“MI:0914”(association) | 0.350 | |
| RPS13 | KIF2A | psi-mi:“MI:0914”(association) | 0.350 |
| RPL23A | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
| ZBTB47 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (48): ZNF70 (Affinity Capture-MS), ZNF70 (Affinity Capture-MS), ZNF70 (Affinity Capture-MS), ZNF70 (Affinity Capture-MS), ZNF70 (Affinity Capture-MS), ZNF70 (Affinity Capture-MS), ZNF70 (Affinity Capture-MS), ZNF70 (Affinity Capture-MS), ZNF70 (Affinity Capture-MS), ZNF70 (Affinity Capture-MS), ZNF70 (Affinity Capture-MS), ZNF70 (Affinity Capture-RNA), ZNF70 (Reconstituted Complex), ZNF70 (Affinity Capture-MS), ZNF70 (Affinity Capture-MS)
ESM2 similar proteins: A0JNB1, A1YF12, A1YG88, A2T759, A3KN32, B2RUI1, O43296, O75123, P10072, P17020, P17097, P51814, P52736, P52740, Q07230, Q08ER8, Q13398, Q14590, Q32KN0, Q3KQV3, Q3MIS6, Q4V8A8, Q5CZA5, Q5RBQ3, Q5RBX0, Q5RCD9, Q5RCX4, Q6GQR8, Q6NX45, Q6P9A3, Q6PK81, Q7TSH9, Q7TSI0, Q7Z7L9, Q86UD4, Q8BFS8, Q8BLB0, Q8IVP9, Q8IZ26, Q8N9F8
Diamond homologs: P18714, P18715, P18718, P18724, P18725, P18731, P18735, P18737, P18738, P18740, P18747, P52742, Q01611, Q02085, Q3MJ62, Q569E7, Q5TEC3, Q6A085, Q6DD87, Q7L3S4, Q7TNU6, Q8BIF9, Q8BJ90, Q9UC06, Q9UEG4, A2ANX9, B0YDH7, O15391, O57311, O57415, O60315, O60481, O62836, O73689, O95409, P03001, P08048, P0C6P6, P10925, P17010
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 |
|---|---|---|---|
| Peptide chain elongation | 10 | 48.8× | 7e-14 |
| Viral mRNA Translation | 10 | 48.8× | 7e-14 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 10 | 48.3× | 7e-14 |
| Selenocysteine synthesis | 10 | 46.2× | 8e-14 |
| Eukaryotic Translation Termination | 10 | 46.2× | 8e-14 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 10 | 45.3× | 8e-14 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 10 | 45.3× | 8e-14 |
| Nonsense-Mediated Decay (NMD) | 5 | 44.8× | 6e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 11 | 47.4× | 5e-14 |
| ribosomal small subunit biogenesis | 5 | 26.5× | 6e-05 |
| translation | 10 | 23.9× | 6e-10 |
| rRNA processing | 5 | 16.5× | 3e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
88 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 80 |
| Likely benign | 0 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
261 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:23743655:T:TA | donor_gain | 0.9800 |
| 22:23745216:CAAT:C | acceptor_gain | 0.9800 |
| 22:23745218:ATC:A | acceptor_loss | 0.9700 |
| 22:23745219:TCTGA:T | acceptor_loss | 0.9700 |
| 22:23745220:C:CC | acceptor_gain | 0.9700 |
| 22:23745220:C:CG | acceptor_loss | 0.9700 |
| 22:23745221:T:C | acceptor_loss | 0.9700 |
| 22:23745215:ACAAT:A | acceptor_gain | 0.9200 |
| 22:23745216:CAATC:C | acceptor_gain | 0.9200 |
| 22:23745222:G:C | acceptor_loss | 0.9200 |
| 22:23743729:TGGAG:T | donor_gain | 0.9000 |
| 22:23745217:AAT:A | acceptor_gain | 0.9000 |
| 22:23745232:C:CT | acceptor_loss | 0.9000 |
| 22:23745227:GAAAA:G | acceptor_loss | 0.8900 |
| 22:23745223:AAAA:A | acceptor_loss | 0.8500 |
| 22:23750973:CCACT:C | donor_loss | 0.8500 |
| 22:23750974:CACTC:C | donor_loss | 0.8500 |
| 22:23750975:ACTCA:A | donor_loss | 0.8500 |
| 22:23750976:CTCA:C | donor_loss | 0.8500 |
| 22:23750977:TCA:T | donor_loss | 0.8500 |
| 22:23750978:CA:C | donor_loss | 0.8500 |
| 22:23750979:AC:A | donor_loss | 0.8500 |
| 22:23750980:CC:C | donor_loss | 0.8500 |
| 22:23743609:A:AT | donor_gain | 0.8300 |
| 22:23745218:AT:A | acceptor_gain | 0.8300 |
| 22:23745233:A:T | acceptor_loss | 0.8300 |
| 22:23750997:CAGCT:C | donor_loss | 0.8300 |
| 22:23750998:AGCTC:A | donor_loss | 0.8300 |
| 22:23750999:GCTCA:G | donor_loss | 0.8300 |
| 22:23751000:CT:C | donor_loss | 0.8300 |
AlphaMissense
2984 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:23744106:G:C | F345L | 0.999 |
| 22:23744106:G:T | F345L | 0.999 |
| 22:23744108:A:G | F345L | 0.999 |
| 22:23744190:G:C | F317L | 0.999 |
| 22:23744190:G:T | F317L | 0.999 |
| 22:23744192:A:G | F317L | 0.999 |
| 22:23744526:G:C | F205L | 0.999 |
| 22:23744526:G:T | F205L | 0.999 |
| 22:23744528:A:G | F205L | 0.999 |
| 22:23744610:G:C | F177L | 0.999 |
| 22:23744610:G:T | F177L | 0.999 |
| 22:23744612:A:G | F177L | 0.999 |
| 22:23743941:G:C | F400L | 0.998 |
| 22:23743941:G:T | F400L | 0.998 |
| 22:23743943:A:G | F400L | 0.998 |
| 22:23744022:A:C | F373L | 0.998 |
| 22:23744022:A:T | F373L | 0.998 |
| 22:23744024:A:G | F373L | 0.998 |
| 22:23744074:C:G | R356P | 0.998 |
| 22:23744274:A:C | F289L | 0.998 |
| 22:23744274:A:T | F289L | 0.998 |
| 22:23744276:A:G | F289L | 0.998 |
| 22:23744694:G:C | F149L | 0.998 |
| 22:23744694:G:T | F149L | 0.998 |
| 22:23744696:A:G | F149L | 0.998 |
| 22:23744089:A:G | L351P | 0.997 |
| 22:23744173:A:G | L323P | 0.997 |
| 22:23744358:G:C | F261L | 0.997 |
| 22:23744358:G:T | F261L | 0.997 |
| 22:23744360:A:G | F261L | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000295292 (22:23740955 C>A), RS1000402895 (22:23750991 G>A), RS1000406583 (22:23752297 C>T), RS1000423977 (22:23746891 G>C), RS1000465349 (22:23751137 C>G), RS1000663575 (22:23740096 C>G), RS1001007253 (22:23745879 G>A,C), RS1001435996 (22:23749961 A>G,T), RS1001670451 (22:23739018 C>T), RS1001945846 (22:23743964 T>C), RS1002373452 (22:23741503 A>G), RS1002406070 (22:23748267 T>A), RS1002438610 (22:23748622 G>A), RS1002505908 (22:23744955 A>T), RS1002543817 (22:23742567 T>C,G)
Disease associations
OMIM: gene MIM:194544 | 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 |
|---|---|---|
| GCST008839_314 | Height | 8.000000e-09 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression | 2 |
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| Smoke | decreases expression, increases abundance | 2 |
| Valproic Acid | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| avobenzone | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Tetrachlorodibenzodioxin | affects expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Urethane | affects expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
Cellosaurus cell lines
3 cell lines: 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A8J4 | SEES3-1V human ZNF70, clone1 | Embryonic stem cell | Male |
| CVCL_A8J5 | SEES3-1V human ZNF70, clone2 | Embryonic stem cell | Male |
| CVCL_A8J6 | SEES3-1V human ZNF70, clone3 | Embryonic stem cell | 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.