ZNF770
geneOn this page
Also known as FLJ20582PRO1914
Summary
ZNF770 (zinc finger protein 770, HGNC:26061) is a protein-coding gene on chromosome 15q14, encoding Zinc finger protein 770 (Q6IQ21). May be involved in transcriptional regulation.
Predicted to enable DNA binding activity and zinc ion binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.
Source: NCBI Gene 54989 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 91 total
- MANE Select transcript:
NM_014106
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26061 |
| Approved symbol | ZNF770 |
| Name | zinc finger protein 770 |
| Location | 15q14 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20582, PRO1914 |
| Ensembl gene | ENSG00000198146 |
| Ensembl biotype | protein_coding |
| Entrez | 54989 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 11 protein_coding
ENST00000356321, ENST00000559564, ENST00000901401, ENST00000901402, ENST00000901403, ENST00000901404, ENST00000901405, ENST00000901406, ENST00000932527, ENST00000955893, ENST00000955894
RefSeq mRNA: 1 — MANE Select: NM_014106
NM_014106
CCDS: CCDS10042
Canonical transcript exons
ENST00000356321 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001402305 | 34988116 | 34988287 |
| ENSE00001402805 | 34987557 | 34987673 |
| ENSE00001403333 | 34978341 | 34983490 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 98.84.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.5100 / max 237.0806, expressed in 1813 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 149305 | 32.5100 | 1813 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| upper arm skin | UBERON:0004263 | 98.84 | gold quality |
| corpus epididymis | UBERON:0004359 | 98.49 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.39 | gold quality |
| gingiva | UBERON:0001828 | 98.20 | gold quality |
| penis | UBERON:0000989 | 97.92 | gold quality |
| kidney epithelium | UBERON:0004819 | 96.78 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 96.71 | gold quality |
| caput epididymis | UBERON:0004358 | 96.54 | gold quality |
| superior surface of tongue | UBERON:0007371 | 96.46 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 96.24 | gold quality |
| tongue | UBERON:0001723 | 96.11 | gold quality |
| renal medulla | UBERON:0000362 | 95.75 | gold quality |
| body of tongue | UBERON:0011876 | 95.69 | gold quality |
| oral cavity | UBERON:0000167 | 95.55 | gold quality |
| cerebellar vermis | UBERON:0004720 | 95.34 | gold quality |
| cauda epididymis | UBERON:0004360 | 95.19 | gold quality |
| mammalian vulva | UBERON:0000997 | 95.14 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 95.03 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 95.01 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 94.97 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 94.84 | gold quality |
| thymus | UBERON:0002370 | 94.80 | gold quality |
| nipple | UBERON:0002030 | 94.79 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 94.74 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 94.49 | gold quality |
| biceps brachii | UBERON:0001507 | 94.31 | gold quality |
| upper leg skin | UBERON:0004262 | 94.10 | gold quality |
| quadriceps femoris | UBERON:0001377 | 94.07 | gold quality |
| vastus lateralis | UBERON:0001379 | 93.93 | gold quality |
| deltoid | UBERON:0001476 | 93.81 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.81 |
Regulation
Is transcription factor: yes
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA2099.1 | ZNF770 | Factors with multiple dispersed zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:22955616
miRNA regulators (miRDB)
149 targeting ZNF770, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
Cross-species orthologs
11 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | plagx | ENSDARG00000036855 |
| danio_rerio | ovol1a | ENSDARG00000076472 |
| danio_rerio | plagl2 | ENSDARG00000076657 |
| danio_rerio | ovol1b | ENSDARG00000078256 |
| mus_musculus | Zfp770 | ENSMUSG00000040321 |
| rattus_norvegicus | Zfp770 | ENSRNOG00000043037 |
| drosophila_melanogaster | hb | FBGN0001180 |
| drosophila_melanogaster | CG12391 | FBGN0033581 |
| caenorhabditis_elegans | WBGENE00001824 | |
| caenorhabditis_elegans | WBGENE00003033 | |
| caenorhabditis_elegans | WBGENE00012385 |
Paralogs (29): ZNF446 (ENSG00000083838), REST (ENSG00000084093), ZNF174 (ENSG00000103343), OVOL3 (ENSG00000105261), PLAGL1 (ENSG00000118495), ZSCAN18 (ENSG00000121413), ZNF576 (ENSG00000124444), OVOL2 (ENSG00000125850), PLAGL2 (ENSG00000126003), ZSCAN5A (ENSG00000131848), ZSCAN29 (ENSG00000140265), ZSCAN32 (ENSG00000140987), ZSCAN1 (ENSG00000152467), ZNF18 (ENSG00000154957), ZKSCAN2 (ENSG00000155592), ZNF496 (ENSG00000162714), ZNF202 (ENSG00000166261), ZNF641 (ENSG00000167528), ZNF444 (ENSG00000167685), SCAND1 (ENSG00000171222), ZNF274 (ENSG00000171606), ZNF131 (ENSG00000172262), OVOL1 (ENSG00000172818), ZNF518A (ENSG00000177853), ZNF518B (ENSG00000178163), PLAG1 (ENSG00000181690), ZSCAN5B (ENSG00000197213), PEG3 (ENSG00000198300), ZSCAN5C (ENSG00000204532)
Protein
Protein identifiers
Zinc finger protein 770 — Q6IQ21 (reviewed: Q6IQ21)
All UniProt accessions (2): Q6IQ21, H0YM59
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_054825* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
Pfam: PF00096
UniProt features (22 total): zinc finger region 11, cross-link 8, chain 1, region of interest 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6IQ21-F1 | 55.24 | 0.02 |
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 (8): 11, 112, 121, 146, 262, 420, 437, 683
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 138 (showing top):
XU_GH1_AUTOCRINE_TARGETS_UP, chr15q14, MODULE_331, BASAKI_YBX1_TARGETS_DN, ZHANG_BREAST_CANCER_PROGENITORS_UP, RAY_TUMORIGENESIS_BY_ERBB2_CDC25A_DN, BENPORATH_ES_1, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, MARTENS_TRETINOIN_RESPONSE_DN, WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_8D, DELACROIX_RAR_BOUND_ES, GCM_RAB10, ATF6_TARGET_GENES, GSE10240_IL22_VS_IL17_STIM_PRIMARY_BRONCHIAL_EPITHELIAL_CELLS_UP, BARX1_TARGET_GENES
GO Biological Process (1): regulation of transcription by RNA polymerase II (GO:0006357)
GO Molecular Function (3): DNA binding (GO:0003677), zinc ion binding (GO:0008270), 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 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
886 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF770 | NUS1 | Q96E22 | 507 |
| ZNF770 | NUP58 | Q9BVL2 | 507 |
| ZNF770 | LRRC2 | Q9BYS8 | 507 |
| ZNF770 | ZNF654 | Q8IZM8 | 490 |
| ZNF770 | DARS1 | P14868 | 455 |
| ZNF770 | TSTD2 | Q5T7W7 | 443 |
| ZNF770 | KMT2D | O14686 | 420 |
| ZNF770 | METAP1 | P53582 | 413 |
| ZNF770 | RNF166 | Q96A37 | 406 |
| ZNF770 | ZC3HC1 | Q86WB0 | 404 |
| ZNF770 | MRM2 | Q9UI43 | 401 |
| ZNF770 | E2F4 | Q16254 | 395 |
| ZNF770 | ZBED5 | Q49AG3 | 393 |
| ZNF770 | E2F3 | O00716 | 387 |
| ZNF770 | CCDC12 | Q8WUD4 | 387 |
IntAct
114 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RPL14 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| CACNG5 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| MACROH2A2 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| E4F1 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF324B | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| RPL37A | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| PPAN | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS34 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18A | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL30 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| NIFK | RSL1D1 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL7A | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF770 | GGH | psi-mi:“MI:0915”(physical association) | 0.400 |
| CFTR | ZNF770 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Set | ZKSCAN1 | psi-mi:“MI:0914”(association) | 0.350 |
| MPHOSPH8 | HCFC1 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPS34 | CIBAR1 | psi-mi:“MI:0914”(association) | 0.350 |
| PPAN | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| C6orf11 | RRP8 | psi-mi:“MI:0914”(association) | 0.350 |
| NIFK | RRP8 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (112): ZNF770 (Affinity Capture-MS), ZNF770 (Affinity Capture-MS), ZNF770 (Affinity Capture-MS), ZNF770 (Affinity Capture-MS), ZNF770 (Affinity Capture-MS), ZNF770 (Affinity Capture-MS), ZNF770 (Affinity Capture-MS), ZNF770 (Affinity Capture-MS), ZNF770 (Affinity Capture-MS), ZNF770 (Affinity Capture-MS), ZNF770 (Affinity Capture-MS), ZNF770 (Affinity Capture-MS), ZNF770 (Affinity Capture-MS), ZNF770 (Affinity Capture-MS), GGH (Proximity Label-MS)
ESM2 similar proteins: A0A0A6YYL3, A5PK30, A7KBS4, B3NP26, B4GBA9, B4HMH2, B4P8I0, B4QIJ9, B7ZQJ9, E1JH25, G3X9G7, H3BUK9, P10925, P18853, P20662, P98182, Q09377, Q0VCB0, Q10127, Q19203, Q290S5, Q2EI20, Q2EI21, Q4R6J4, Q5NVT2, Q5PPG4, Q5SVQ8, Q5T5D7, Q5UR86, Q65XX7, Q6IQ21, Q6NRM8, Q7JUR5, Q7K4M4, Q7Z142, Q8BIQ8, Q8C0P7, Q8IRH5, Q8NAP3, Q8T053
Diamond homologs: A0JC51, A2ANX9, O15391, O57311, O57415, O60481, O62836, O73689, O95409, P08048, P0C6P6, P10925, P17010, P17012, P18747, P20662, P22227, P25490, P34694, P46684, P80944, Q00899, Q10RP4, Q12145, Q15915, Q29419, Q2FAY8, Q3TTC2, Q3UH06, Q3US17, Q3Y4E1, Q52V16, Q5NVT2, Q5R782, Q5RJ54, Q61467, Q61624, Q62520, Q62521, Q62806
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 127 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 | 27 | 42.3× | 5e-36 |
| Viral mRNA Translation | 27 | 42.3× | 5e-36 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 27 | 41.8× | 5e-36 |
| Selenocysteine synthesis | 27 | 40.1× | 1e-35 |
| Eukaryotic Translation Termination | 27 | 40.1× | 1e-35 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 27 | 39.2× | 2e-35 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 27 | 39.2× | 2e-35 |
| Formation of a pool of free 40S subunits | 27 | 37.3× | 6e-35 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 28 | 46.3× | 2e-37 |
| ribosomal large subunit biogenesis | 8 | 31.7× | 2e-08 |
| translation | 29 | 26.6× | 2e-31 |
| ribosomal small subunit biogenesis | 8 | 16.3× | 3e-06 |
| rRNA processing | 10 | 12.6× | 8e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
91 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 80 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
661 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:34983356:ATGG:A | donor_gain | 1.0000 |
| 15:34988145:C:A | donor_gain | 1.0000 |
| 15:34988164:T:TA | donor_gain | 1.0000 |
| 15:34988003:T:TA | donor_gain | 0.9900 |
| 15:34988139:G:GT | donor_gain | 0.9800 |
| 15:34988144:T:TA | donor_gain | 0.9800 |
| 15:34987673:CCTAA:C | acceptor_loss | 0.9700 |
| 15:34987674:C:A | acceptor_loss | 0.9700 |
| 15:34987675:T:A | acceptor_loss | 0.9700 |
| 15:34988071:CAGGA:C | donor_gain | 0.9700 |
| 15:34988072:AGGAA:A | donor_gain | 0.9700 |
| 15:34988111:GGCAC:G | donor_loss | 0.9700 |
| 15:34988112:GCAC:G | donor_loss | 0.9700 |
| 15:34988113:CACCT:C | donor_loss | 0.9700 |
| 15:34988114:A:AC | donor_loss | 0.9700 |
| 15:34988115:C:T | donor_loss | 0.9700 |
| 15:34983488:TGT:T | acceptor_gain | 0.9600 |
| 15:34983491:C:CC | acceptor_gain | 0.9600 |
| 15:34988116:C:G | donor_loss | 0.9600 |
| 15:34983490:TC:T | acceptor_loss | 0.9500 |
| 15:34983491:CT:C | acceptor_loss | 0.9500 |
| 15:34983492:T:A | acceptor_loss | 0.9500 |
| 15:34988187:T:TA | donor_gain | 0.9500 |
| 15:34987552:CTGA:C | donor_loss | 0.9400 |
| 15:34987553:TGA:T | donor_loss | 0.9400 |
| 15:34987554:GA:G | donor_loss | 0.9400 |
| 15:34987555:ACCTC:A | donor_loss | 0.9400 |
| 15:34987556:CC:C | donor_loss | 0.9400 |
| 15:34988158:TC:T | donor_gain | 0.9400 |
| 15:34988159:CC:C | donor_gain | 0.9400 |
AlphaMissense
4621 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:34981424:G:C | H671D | 0.999 |
| 15:34981449:G:C | F662L | 0.999 |
| 15:34981449:G:T | F662L | 0.999 |
| 15:34981451:A:G | F662L | 0.999 |
| 15:34981899:A:C | F512L | 0.999 |
| 15:34981899:A:T | F512L | 0.999 |
| 15:34981901:A:G | F512L | 0.999 |
| 15:34982760:A:C | F225L | 0.999 |
| 15:34982760:A:T | F225L | 0.999 |
| 15:34982762:A:G | F225L | 0.999 |
| 15:34982819:G:C | H206D | 0.999 |
| 15:34982844:A:C | F197L | 0.999 |
| 15:34982844:A:T | F197L | 0.999 |
| 15:34982846:A:G | F197L | 0.999 |
| 15:34981422:A:C | H671Q | 0.998 |
| 15:34981422:A:T | H671Q | 0.998 |
| 15:34981450:A:G | F662S | 0.998 |
| 15:34981472:A:G | C655R | 0.998 |
| 15:34981506:G:C | H643Q | 0.998 |
| 15:34981506:G:T | H643Q | 0.998 |
| 15:34981533:G:C | F634L | 0.998 |
| 15:34981533:G:T | F634L | 0.998 |
| 15:34981535:A:G | F634L | 0.998 |
| 15:34981900:A:G | F512S | 0.998 |
| 15:34982743:A:G | L231P | 0.998 |
| 15:34982761:A:G | F225S | 0.998 |
| 15:34982845:A:G | F197S | 0.998 |
| 15:34983243:A:C | F64L | 0.998 |
| 15:34983243:A:T | F64L | 0.998 |
| 15:34983245:A:G | F64L | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000546953 (15:34989947 C>G,T), RS1000783648 (15:34982785 T>C,G), RS1001134146 (15:34982235 A>C,G,T), RS1001618515 (15:34987278 C>A,T), RS1001833659 (15:34987048 T>A), RS1002221554 (15:34988432 A>C,G), RS1002573831 (15:34988263 A>G), RS1002721221 (15:34989414 T>G), RS1002882776 (15:34986056 C>G,T), RS1003134625 (15:34985497 T>C), RS1003165945 (15:34985125 G>T), RS1003520359 (15:34978856 T>G), RS1004344309 (15:34984482 A>C), RS1004512149 (15:34979535 C>T), RS1005140367 (15:34985607 G>A,C)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002104_23 | Bronchopulmonary dysplasia | 9.000000e-06 |
| GCST004047_3 | Optic nerve measurement (cup-to-disc ratio) | 1.000000e-06 |
| GCST008477_24 | Emphysema annual change measurement in smokers (adjusted lung density) | 9.000000e-06 |
| GCST010002_165 | Refractive error | 2.000000e-245 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006939 | cup-to-disc ratio measurement |
| EFO:0007626 | emphysema imaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| perfluorooctane sulfonic acid | decreases expression, increases expression | 3 |
| Air Pollutants | affects expression, increases abundance, increases expression | 2 |
| Valproic Acid | increases expression, decreases expression, decreases methylation | 2 |
| TAK-243 | increases sumoylation | 1 |
| geldanamycin | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| Grape Seed Proanthocyanidins | increases expression, affects cotreatment | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| MT19c compound | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression, increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Catechin | affects cotreatment, increases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, decreases expression, increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Testosterone | decreases expression | 1 |
| Tetrachlorodibenzodioxin | affects cotreatment, decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Vanadates | decreases expression | 1 |
| Aflatoxin M1 | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_XW82 | HEK293 eGFP-ZNF770 | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): bronchopulmonary dysplasia