ZNF264
gene geneOn this page
Also known as KIAA0412
Summary
ZNF264 (zinc finger protein 264, HGNC:13057) is a protein-coding gene on chromosome 19q13.43, encoding Zinc finger protein 264 (O43296). May be involved in transcriptional regulation.
This gene encodes a zinc finger protein and belongs to the krueppel C2H2-type zinc-finger protein family. Zinc finger proteins are often localized in the nucleus, bind nucleic acids, and regulate transcription.
Source: NCBI Gene 9422 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 115 total
- Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_003417
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13057 |
| Approved symbol | ZNF264 |
| Name | zinc finger protein 264 |
| Location | 19q13.43 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0412 |
| Ensembl gene | ENSG00000083844 |
| Ensembl biotype | protein_coding |
| OMIM | 604668 |
| Entrez | 9422 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 5 protein_coding
ENST00000263095, ENST00000594126, ENST00000597447, ENST00000599653, ENST00000600531
RefSeq mRNA: 1 — MANE Select: NM_003417
NM_003417
CCDS: CCDS33127
Canonical transcript exons
ENST00000263095 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001306308 | 57211354 | 57222846 |
| ENSE00001322591 | 57191500 | 57191946 |
| ENSE00002445959 | 57205397 | 57205492 |
| ENSE00002470617 | 57193875 | 57194001 |
Expression profiles
Bgee: expression breadth ubiquitous, 270 present calls, max score 90.55.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.4549 / max 63.1018, expressed in 1744 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 177741 | 9.5902 | 1735 |
| 177740 | 0.8647 | 608 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 90.55 | gold quality |
| nipple | UBERON:0002030 | 90.00 | gold quality |
| caput epididymis | UBERON:0004358 | 88.12 | gold quality |
| bronchial epithelial cell | CL:0002328 | 87.72 | gold quality |
| visceral pleura | UBERON:0002401 | 87.00 | gold quality |
| parietal pleura | UBERON:0002400 | 86.94 | gold quality |
| corpus epididymis | UBERON:0004359 | 86.92 | gold quality |
| calcaneal tendon | UBERON:0003701 | 86.20 | gold quality |
| pleura | UBERON:0000977 | 86.17 | gold quality |
| sural nerve | UBERON:0015488 | 84.55 | gold quality |
| cauda epididymis | UBERON:0004360 | 84.11 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 84.08 | gold quality |
| bronchus | UBERON:0002185 | 84.01 | gold quality |
| mammalian vulva | UBERON:0000997 | 83.97 | gold quality |
| endothelial cell | CL:0000115 | 83.68 | gold quality |
| renal medulla | UBERON:0000362 | 83.62 | gold quality |
| corpus callosum | UBERON:0002336 | 83.59 | gold quality |
| urethra | UBERON:0000057 | 83.46 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 83.46 | gold quality |
| postcentral gyrus | UBERON:0002581 | 83.33 | gold quality |
| adult organism | UBERON:0007023 | 83.18 | gold quality |
| adrenal tissue | UBERON:0018303 | 83.15 | gold quality |
| parietal lobe | UBERON:0001872 | 83.11 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.08 | gold quality |
| superior surface of tongue | UBERON:0007371 | 83.04 | gold quality |
| pylorus | UBERON:0001166 | 82.88 | gold quality |
| lower lobe of lung | UBERON:0008949 | 82.80 | gold quality |
| medial globus pallidus | UBERON:0002477 | 82.61 | gold quality |
| tendon | UBERON:0000043 | 82.59 | gold quality |
| seminal vesicle | UBERON:0000998 | 82.28 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.94 |
| E-MTAB-7303 | no | 111.21 |
| E-MTAB-6142 | no | 18.97 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
351 targeting ZNF264, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
Functional genomics
ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
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), 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), ZNF70 (ENSG00000187792)
Protein
Protein identifiers
Zinc finger protein 264 — O43296 (reviewed: O43296)
All UniProt accessions (5): O43296, M0QXF3, M0QZJ4, M0QZT5, M0R146
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in transcriptional regulation.
Subcellular location. Nucleus.
Tissue specificity. Relatively highly expressed in kidney, thymus, testis, ovary, brain, lung, placenta, and prostate, and relatively low expression in heart, liver, skeletal muscle, pancreas, spleen, and small intestine.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
RefSeq proteins (1): NP_003408* (*=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 (27 total): zinc finger region 13, region of interest 3, compositionally biased region 3, modified residue 3, sequence variant 2, chain 1, domain 1, cross-link 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43296-F1 | 66.72 | 0.10 |
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 (4): 80, 343, 511, 425
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
| R-HSA-9843940 | Regulation of endogenous retroelements by KRAB-ZFP proteins |
MSigDB gene sets: 175 (showing top):
MODULE_255, BROWNE_HCMV_INFECTION_8HR_UP, MODULE_317, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, MORF_ZNF10, BLALOCK_ALZHEIMERS_DISEASE_UP, MODULE_123, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, MORF_EPHA7, MORF_RAB3A, MORF_BMPR2, MORF_WNT1, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_TURQUOISE_UP, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, MORF_IL9
GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (6): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), 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 (1): nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase II Transcription | 1 |
| Regulation of endogenous retroelements | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 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 |
Protein interactions and networks
STRING
742 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF264 | USP29 | Q9HBJ7 | 449 |
| ZNF264 | ZNF704 | Q6ZNC4 | 399 |
| ZNF264 | LYSMD1 | Q96S90 | 348 |
| ZNF264 | SLC67A1 | Q96BI1 | 305 |
| ZNF264 | C2CD2 | Q9Y426 | 305 |
| ZNF264 | ANKIB1 | Q9P2G1 | 300 |
| ZNF264 | ZC3H12C | Q9C0D7 | 295 |
| ZNF264 | CAMSAP2 | Q08AD1 | 288 |
| ZNF264 | C2CD4C | Q8TF44 | 288 |
| ZNF264 | INTS2 | Q9H0H0 | 287 |
| ZNF264 | MRPS12 | O15235 | 277 |
| ZNF264 | KIAA1549L | Q6ZVL6 | 276 |
| ZNF264 | TMEM101 | Q96IK0 | 274 |
| ZNF264 | BTF3L4 | Q96K17 | 271 |
| ZNF264 | N4BP2L2 | Q92802 | 267 |
IntAct
55 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZNF264 | TRIM41 | psi-mi:“MI:0915”(physical association) | 0.740 |
| ZNF264 | CEP70 | psi-mi:“MI:0915”(physical association) | 0.600 |
| ZNF264 | ZNF175 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF264 | KRTAP10-6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF264 | MCC | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF264 | KRTAP2-4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA6L9 | ZNF264 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF264 | KRTAP10-8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF264 | ZNF526 | psi-mi:“MI:0915”(physical association) | 0.560 |
| IPO8 | ZNF264 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF264 | KRTAP10-7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF264 | PICK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF264 | MDFI | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF264 | DVL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF264 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| TRIM28 | ZNF320 | psi-mi:“MI:0914”(association) | 0.530 |
| KRTAP10-1 | ZNF264 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF264 | TRIM24 | psi-mi:“MI:0914”(association) | 0.350 |
| CBX5 | ZNF568 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF264 | CEP70 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ZNF264 | ZNF175 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ZNF264 | KRTAP10-6 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ZNF264 | MCC | psi-mi:“MI:0915”(physical association) | 0.000 |
| ZNF264 | KRTAP2-4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ZNF264 | GOLGA6L9 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ZNF264 | psi-mi:“MI:0915”(physical association) | 0.000 | |
| ZNF264 | KRTAP10-8 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (60): ZNF264 (Two-hybrid), ZNF264 (Two-hybrid), ZNF264 (Two-hybrid), NDEL1 (Two-hybrid), TRIM41 (Two-hybrid), KRTAP10-9 (Two-hybrid), KRTAP10-1 (Two-hybrid), KRTAP10-5 (Two-hybrid), KRTAP10-3 (Two-hybrid), ZYG11A (Affinity Capture-MS), CENPB (Affinity Capture-MS), TRIM24 (Affinity Capture-MS), GOPC (Affinity Capture-MS), ZNF805 (Affinity Capture-MS), TRIM41 (Affinity Capture-MS)
ESM2 similar proteins: A0JNB1, A1YF12, A1YG88, A2T759, A6QLU5, B2RUI1, D3ZVT0, O14709, O43296, O75123, P10072, P15621, P17020, P17097, P51814, P85977, Q08ER8, Q0VGE8, Q14590, Q32KN0, Q3KQV3, Q4V8A8, Q5CZA5, Q5RBX0, Q5RCD9, Q5VIY5, Q61116, Q61967, Q6GQR8, Q6P9A3, Q6ZMS4, Q7TSH9, Q7TSI0, Q7Z3I7, Q86UD4, Q86WZ6, Q8BFS8, Q8IZ26, Q8N9F8, Q8TAF7
Diamond homologs: A6NDX5, A6NN14, A6QLU5, A7MBI1, A8MQ14, B4DU55, B4DX44, O43296, O60765, O75290, O75346, O75437, O95780, P10072, P10078, P17014, P17030, P17032, P17097, P17098, P51523, P51814, P52736, P52738, P52742, Q05481, Q06730, Q06732, Q14586, Q14929, Q15928, Q16587, Q29RZ4, Q2KI58, Q3KNS6, Q3V080, Q3ZCX4, Q49AA0, Q4R6C2, Q4V8A8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 20 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 | 5 | 17.4× | 4e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
115 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 97 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1011 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:57193874:GGT:G | acceptor_gain | 1.0000 |
| 19:57193874:GGTGT:G | acceptor_gain | 1.0000 |
| 19:57193962:G:GT | donor_gain | 1.0000 |
| 19:57194000:GG:G | donor_gain | 1.0000 |
| 19:57194000:GGGTA:G | donor_loss | 1.0000 |
| 19:57194001:GG:G | donor_gain | 1.0000 |
| 19:57194002:G:C | donor_loss | 1.0000 |
| 19:57194002:G:GG | donor_gain | 1.0000 |
| 19:57194003:T:G | donor_loss | 1.0000 |
| 19:57191944:CAGG:C | donor_loss | 0.9900 |
| 19:57191945:AGG:A | donor_loss | 0.9900 |
| 19:57191946:GGTG:G | donor_loss | 0.9900 |
| 19:57191947:GTG:G | donor_loss | 0.9900 |
| 19:57191948:T:A | donor_loss | 0.9900 |
| 19:57193871:CCAG:C | acceptor_loss | 0.9900 |
| 19:57193873:A:AG | acceptor_gain | 0.9900 |
| 19:57193873:AG:A | acceptor_gain | 0.9900 |
| 19:57193873:AGGT:A | acceptor_gain | 0.9900 |
| 19:57193873:AGGTG:A | acceptor_loss | 0.9900 |
| 19:57193874:G:GA | acceptor_gain | 0.9900 |
| 19:57193874:GG:G | acceptor_gain | 0.9900 |
| 19:57193874:GGTG:G | acceptor_gain | 0.9900 |
| 19:57192548:G:GG | donor_gain | 0.9800 |
| 19:57192554:A:T | donor_gain | 0.9800 |
| 19:57193864:T:TA | acceptor_gain | 0.9800 |
| 19:57191949:GAGTG:G | donor_loss | 0.9700 |
| 19:57193968:A:AG | donor_gain | 0.9700 |
| 19:57194000:GGGT:G | donor_gain | 0.9600 |
| 19:57194001:GGT:G | donor_gain | 0.9600 |
| 19:57205846:C:G | donor_gain | 0.9600 |
AlphaMissense
4149 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:57212487:T:C | F464L | 0.999 |
| 19:57212489:T:A | F464L | 0.999 |
| 19:57212489:T:G | F464L | 0.999 |
| 19:57212506:T:C | L470P | 0.999 |
| 19:57212655:T:C | F520L | 0.999 |
| 19:57212657:T:A | F520L | 0.999 |
| 19:57212657:T:G | F520L | 0.999 |
| 19:57212739:T:C | F548L | 0.999 |
| 19:57212741:C:A | F548L | 0.999 |
| 19:57212741:C:G | F548L | 0.999 |
| 19:57211899:T:C | F268L | 0.998 |
| 19:57211901:C:A | F268L | 0.998 |
| 19:57211901:C:G | F268L | 0.998 |
| 19:57211983:T:C | F296L | 0.998 |
| 19:57211985:C:A | F296L | 0.998 |
| 19:57211985:C:G | F296L | 0.998 |
| 19:57212319:T:C | F408L | 0.998 |
| 19:57212321:C:A | F408L | 0.998 |
| 19:57212321:C:G | F408L | 0.998 |
| 19:57212403:T:C | F436L | 0.998 |
| 19:57212405:C:A | F436L | 0.998 |
| 19:57212405:C:G | F436L | 0.998 |
| 19:57212512:G:C | R472P | 0.998 |
| 19:57212516:C:A | H473Q | 0.998 |
| 19:57212516:C:G | H473Q | 0.998 |
| 19:57212571:T:C | F492L | 0.998 |
| 19:57212573:C:A | F492L | 0.998 |
| 19:57212573:C:G | F492L | 0.998 |
| 19:57212674:T:C | L526P | 0.998 |
| 19:57212680:G:C | R528P | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000200469 (19:57190972 G>C,T), RS1000206519 (19:57195919 A>G), RS1000223729 (19:57203983 G>A), RS1000328406 (19:57195987 A>T), RS1000411689 (19:57201397 C>T), RS1000436330 (19:57201361 C>A), RS1000468149 (19:57190627 C>G), RS1000477650 (19:57222867 C>G), RS1000610861 (19:57206451 C>G,T), RS1000799265 (19:57218256 G>A,C), RS1000849887 (19:57218596 A>G), RS1000890220 (19:57201667 C>A), RS1000915614 (19:57196975 C>T), RS1001186434 (19:57212416 C>G,T), RS1001191587 (19:57200373 A>G)
Disease associations
OMIM: gene MIM:604668 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001144_10 | Dupuytren’s disease | 7.000000e-14 |
| GCST004858_25 | Dupuytren’s disease | 2.000000e-17 |
| GCST008823_1 | Body mass index | 2.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004229 | Dupuytren Contracture |
| EFO:0004340 | body mass index |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | increases methylation, affects methylation | 2 |
| Tetrachlorodibenzodioxin | increases expression, affects expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| testosterone enanthate | affects expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| geraniol | increases expression | 1 |
| terbufos | increases methylation | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| bazedoxifene | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | decreases expression, affects cotreatment | 1 |
| NSC 689534 | affects binding, 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 | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acrolein | affects cotreatment, decreases expression, increases abundance | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Copper | increases expression, affects binding | 1 |
| Doxorubicin | decreases expression | 1 |
| Fonofos | increases methylation | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Gallic Acid | increases 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_HD17 | HEK293 eGFP-ZNF264 | 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.