ZNF22
gene geneOn this page
Also known as KOX15HKR-T1ZNF422Zfp422
Summary
ZNF22 (zinc finger protein 22, HGNC:13012) is a protein-coding gene on chromosome 10q11.21, encoding Zinc finger protein 22 (P17026). Binds DNA through the consensus sequence 5’-CAATG-3'.
Predicted to enable DNA binding activity. Predicted to be involved in regulation of gene expression. Located in nucleoplasm.
Source: NCBI Gene 7570 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 28 total
- MANE Select transcript:
NM_006963
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13012 |
| Approved symbol | ZNF22 |
| Name | zinc finger protein 22 |
| Location | 10q11.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KOX15, HKR-T1, ZNF422, Zfp422 |
| Ensembl gene | ENSG00000165512 |
| Ensembl biotype | protein_coding |
| OMIM | 194529 |
| Entrez | 7570 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 5 protein_coding
ENST00000298299, ENST00000870780, ENST00000870781, ENST00000913002, ENST00000913003
RefSeq mRNA: 1 — MANE Select: NM_006963
NM_006963
CCDS: CCDS7211
Canonical transcript exons
ENST00000298299 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001093710 | 45000923 | 45000978 |
| ENSE00001194399 | 45003280 | 45005326 |
Expression profiles
Bgee: expression breadth ubiquitous, 289 present calls, max score 96.67.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.0975 / max 168.1057, expressed in 1680 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 104782 | 14.3271 | 1668 |
| 104780 | 0.4038 | 199 |
| 104781 | 0.3050 | 121 |
| 104778 | 0.0378 | 15 |
| 104779 | 0.0237 | 7 |
Top tissues by expression
299 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 96.67 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.54 | gold quality |
| embryo | UBERON:0000922 | 95.45 | gold quality |
| secondary oocyte | CL:0000655 | 94.95 | gold quality |
| islet of Langerhans | UBERON:0000006 | 93.35 | gold quality |
| cortical plate | UBERON:0005343 | 93.31 | gold quality |
| body of pancreas | UBERON:0001150 | 93.11 | gold quality |
| oocyte | CL:0000023 | 93.10 | gold quality |
| pancreas | UBERON:0001264 | 92.60 | gold quality |
| endometrium | UBERON:0001295 | 92.22 | gold quality |
| lymph node | UBERON:0000029 | 91.32 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.12 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 90.44 | gold quality |
| tibia | UBERON:0000979 | 90.22 | gold quality |
| peritoneum | UBERON:0002358 | 90.00 | gold quality |
| omental fat pad | UBERON:0010414 | 90.00 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 89.85 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 89.85 | gold quality |
| retina | UBERON:0000966 | 89.83 | gold quality |
| medial globus pallidus | UBERON:0002477 | 89.69 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 89.63 | gold quality |
| rectum | UBERON:0001052 | 89.53 | gold quality |
| placenta | UBERON:0001987 | 89.50 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 89.42 | gold quality |
| mammary gland | UBERON:0001911 | 89.37 | gold quality |
| adipose tissue | UBERON:0001013 | 89.26 | gold quality |
| connective tissue | UBERON:0002384 | 89.24 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 89.23 | gold quality |
| renal glomerulus | UBERON:0000074 | 88.98 | gold quality |
| pleura | UBERON:0000977 | 88.90 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-4 | yes | 47.33 |
| E-CURD-112 | yes | 40.14 |
| E-ANND-3 | yes | 9.40 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
107 targeting ZNF22, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| 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-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:dkey-210j14.3 | ENSDARG00000089883 |
| danio_rerio | si:dkey-210j14.4 | ENSDARG00000090871 |
| danio_rerio | si:ch211-284e13.5 | ENSDARG00000094725 |
| danio_rerio | si:ch1073-224n8.1 | ENSDARG00000104485 |
| danio_rerio | znf16l | ENSDARG00000105532 |
| mus_musculus | Zfp422 | ENSMUSG00000059878 |
| rattus_norvegicus | Zfp422 | ENSRNOG00000013379 |
Paralogs (18): ZNF430 (ENSG00000118620), ZNF92 (ENSG00000146757), ZNF66 (ENSG00000160229), ZNF680 (ENSG00000173041), ZNF114 (ENSG00000178150), ZFP41 (ENSG00000181638), ZNF730 (ENSG00000183850), ZNF479 (ENSG00000185177), ZNF626 (ENSG00000188171), ZNF431 (ENSG00000196705), ZNF100 (ENSG00000197020), ZNF257 (ENSG00000197134), ZNF98 (ENSG00000197360), ZNF675 (ENSG00000197372), ZNF273 (ENSG00000198039), ZNF737 (ENSG00000237440), ZNF253 (ENSG00000256771), ZNF723 (ENSG00000268696)
Protein
Protein identifiers
Zinc finger protein 22 — P17026 (reviewed: P17026)
Alternative names: Zinc finger protein KOX15, Zinc finger protein Krox-26
All UniProt accessions (1): P17026
UniProt curated annotations — full annotation on UniProt →
Function. Binds DNA through the consensus sequence 5’-CAATG-3’. May be involved in transcriptional regulation and may play a role in tooth formation.
Subcellular location. Nucleus.
Tissue specificity. In the embryo, expressed in developing craniofacial structures including dental epithelium of maxillary molar tooth organs, tongue epithelium and muscle, and craniofacial bone osteoblasts. In the adult, expressed in mesoderm-derived tissues such as skeletal muscle, heart, kidney and liver. Intermediate expression in spleen, thymus and brain. Low levels in endoderm-derived tissues such as intestine and colon.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
RefSeq proteins (1): NP_008894* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
Pfam: PF00096
UniProt features (14 total): zinc finger region 5, modified residue 3, sequence variant 2, sequence conflict 2, chain 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P17026-F1 | 71.70 | 0.45 |
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): 18, 23, 49
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 170 (showing top):
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, TSENG_IRS1_TARGETS_UP, GRUETZMANN_PANCREATIC_CANCER_DN, KAAB_FAILED_HEART_ATRIUM_DN, TTTGTAG_MIR520D, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, MITSIADES_RESPONSE_TO_APLIDIN_DN, HNF1_Q6, PUJANA_CHEK2_PCC_NETWORK, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, SCHAEFFER_PROSTATE_DEVELOPMENT_AND_CANCER_BOX3, ONDER_CDH1_TARGETS_2_UP
GO Biological Process (3): regulation of DNA-templated transcription (GO:0006355), regulation of gene expression (GO:0010468), odontogenesis (GO:0042476)
GO Molecular Function (5): DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| gene expression | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| animal organ morphogenesis | 1 |
| nucleic acid binding | 1 |
| transcription cis-regulatory region binding | 1 |
| regulation of DNA-templated transcription | 1 |
| transcription regulator activity | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
672 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF22 | LPCAT2 | Q7L5N7 | 533 |
| ZNF22 | FAM43A | Q8N2R8 | 441 |
| ZNF22 | SDHA | P31040 | 438 |
| ZNF22 | ZNF608 | Q9ULD9 | 373 |
| ZNF22 | ZBTB21 | Q9ULJ3 | 373 |
| ZNF22 | ZZZ3 | Q8IYH5 | 365 |
| ZNF22 | UQCC5 | Q8WVI0 | 361 |
| ZNF22 | NGRN | Q9NPE2 | 356 |
| ZNF22 | CMTR2 | Q8IYT2 | 335 |
| ZNF22 | SFT2D3 | Q587I9 | 323 |
| ZNF22 | SZRD1 | Q7Z422 | 307 |
| ZNF22 | ZNF532 | Q9HCE3 | 301 |
| ZNF22 | RUNX1T1 | Q06455 | 298 |
| ZNF22 | MEOX2 | P50222 | 290 |
| ZNF22 | MIER2 | Q8N344 | 290 |
IntAct
87 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| H2AX | PPM1G | psi-mi:“MI:0914”(association) | 0.730 |
| RPL14 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| H1-1 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| RPL28 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.560 |
| RPL37A | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18 | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF71 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| N | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| MACROH2A2 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| PPAN | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | GTPBP10 | 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 |
| H1-1 | SURF6 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL6 | YBX3 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF22 | CFTR | psi-mi:“MI:0915”(physical association) | 0.510 |
| CFTR | ZNF22 | psi-mi:“MI:0915”(physical association) | 0.510 |
| ZNF22 | BDKRB1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PPAN | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| DGCR8 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
| C6orf11 | RRP8 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF22 | NPM1 | psi-mi:“MI:0914”(association) | 0.350 |
| Pik3r2 | EDIL3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (168): ZNF22 (Affinity Capture-MS), ZNF22 (Affinity Capture-MS), RPL26L1 (Affinity Capture-MS), SRRM1 (Affinity Capture-MS), ZNF808 (Affinity Capture-MS), ZNF624 (Affinity Capture-MS), DDX52 (Affinity Capture-MS), HIST1H1C (Affinity Capture-MS), RPS3A (Affinity Capture-MS), NPM1 (Affinity Capture-MS), RPL36AL (Affinity Capture-MS), MRPL27 (Affinity Capture-MS), MRPL9 (Affinity Capture-MS), MRPL30 (Affinity Capture-MS), MRPL20 (Affinity Capture-MS)
ESM2 similar proteins: A2RRD8, A6NHJ4, B4DU55, O60765, O75346, O88553, P15621, P17026, P17036, P17141, Q02975, Q0VGE8, Q13398, Q15928, Q1LZC0, Q2M3X9, Q3KNS6, Q3SY52, Q5HY98, Q5HYK9, Q5R4X5, Q61751, Q6GQR8, Q6J6I6, Q6JLC9, Q6P9A1, Q6PK81, Q6ZMS4, Q86WZ6, Q8IZ26, Q8N9F8, Q8N9Z0, Q8NCK3, Q8NEP9, Q8NHY6, Q8WV37, Q969W8, Q96H40, Q96HQ0, Q96K75
Diamond homologs: B1H2Q6, G5EGB2, O15535, O75290, P17026, P18724, P18741, P18747, P52742, Q15937, Q17895, Q1LZC0, Q3MJ62, Q4R7X8, Q5R4X5, Q6A085, Q7Z3I7, Q8BGV5, Q8TBZ5, Q91VW9, Q969J2, Q9BRR0, Q9ERU2, Q9ERU3, Q9UEG4, Q9Z1D9, Q9Z2K3, P18715, P18719, P18725, P18729, P18731, P18735, P18737, Q3TDE8, Q966L8, P17023, P18722, P18736, P18738
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 95 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 | 15 | 34.0× | 6e-18 |
| Viral mRNA Translation | 15 | 34.0× | 6e-18 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 15 | 33.6× | 6e-18 |
| Selenocysteine synthesis | 15 | 32.2× | 7e-18 |
| Eukaryotic Translation Termination | 15 | 32.2× | 7e-18 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 15 | 31.5× | 8e-18 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 15 | 31.5× | 8e-18 |
| Formation of a pool of free 40S subunits | 15 | 30.0× | 2e-17 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 16 | 34.1× | 5e-18 |
| translation | 16 | 18.9× | 4e-14 |
| ribosomal small subunit biogenesis | 7 | 18.3× | 9e-06 |
| rRNA processing | 10 | 16.3× | 8e-08 |
| nucleosome assembly | 9 | 14.5× | 1e-06 |
| RNA processing | 5 | 12.6× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
28 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 23 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
250 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:45003274:A:AG | acceptor_gain | 1.0000 |
| 10:45003278:A:AG | acceptor_gain | 1.0000 |
| 10:45003279:G:GG | acceptor_gain | 1.0000 |
| 10:45003272:A:AG | acceptor_gain | 0.9900 |
| 10:45003273:C:G | acceptor_gain | 0.9900 |
| 10:45003275:C:G | acceptor_gain | 0.9900 |
| 10:45003277:CA:C | acceptor_loss | 0.9900 |
| 10:45003279:GA:G | acceptor_gain | 0.9900 |
| 10:45003279:GAA:G | acceptor_gain | 0.9900 |
| 10:45003279:GAAA:G | acceptor_gain | 0.9900 |
| 10:45003279:GAAAA:G | acceptor_gain | 0.9900 |
| 10:45000974:GCGCG:G | donor_gain | 0.9800 |
| 10:45003277:C:G | acceptor_gain | 0.9800 |
| 10:45003276:A:AG | acceptor_gain | 0.9700 |
| 10:45000976:GCG:G | donor_gain | 0.9600 |
| 10:45003064:A:AG | acceptor_gain | 0.9600 |
| 10:45003367:CCATG:C | acceptor_gain | 0.9600 |
| 10:45000623:A:AG | donor_gain | 0.9500 |
| 10:45000980:T:A | donor_loss | 0.9500 |
| 10:45000981:GA:G | donor_loss | 0.9500 |
| 10:45000584:G:GT | donor_gain | 0.9400 |
| 10:45000979:G:GG | donor_gain | 0.9400 |
| 10:45000982:AG:A | donor_loss | 0.9000 |
| 10:45003244:T:A | acceptor_gain | 0.9000 |
| 10:45003370:TG:T | acceptor_gain | 0.9000 |
| 10:45003371:G:GC | acceptor_gain | 0.9000 |
| 10:45000961:G:GA | donor_gain | 0.8900 |
| 10:45003256:A:G | acceptor_gain | 0.8800 |
| 10:45001607:GA:G | donor_gain | 0.8700 |
| 10:45000977:CG:C | donor_gain | 0.8600 |
AlphaMissense
1503 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:45003810:T:C | F148L | 0.997 |
| 10:45003812:C:A | F148L | 0.997 |
| 10:45003812:C:G | F148L | 0.997 |
| 10:45003894:T:C | F176L | 0.997 |
| 10:45003896:C:A | F176L | 0.997 |
| 10:45003896:C:G | F176L | 0.997 |
| 10:45003726:T:C | F120L | 0.996 |
| 10:45003728:C:A | F120L | 0.996 |
| 10:45003728:C:G | F120L | 0.996 |
| 10:45003829:T:C | L154P | 0.996 |
| 10:45003676:G:C | R103P | 0.995 |
| 10:45003745:T:C | L126P | 0.995 |
| 10:45003558:T:C | F64L | 0.993 |
| 10:45003560:C:A | F64L | 0.993 |
| 10:45003560:C:G | F64L | 0.993 |
| 10:45003757:A:C | Q130P | 0.993 |
| 10:45003839:T:A | H157Q | 0.993 |
| 10:45003839:T:G | H157Q | 0.993 |
| 10:45003841:A:C | Q158P | 0.993 |
| 10:45003913:T:C | L182P | 0.992 |
| 10:45003837:C:G | H157D | 0.991 |
| 10:45003851:C:A | H161Q | 0.991 |
| 10:45003851:C:G | H161Q | 0.991 |
| 10:45003671:T:A | H101Q | 0.990 |
| 10:45003671:T:G | H101Q | 0.990 |
| 10:45003673:G:C | R102P | 0.990 |
| 10:45003661:T:C | L98P | 0.989 |
| 10:45003783:T:G | Y139D | 0.989 |
| 10:45003811:T:C | F148S | 0.988 |
| 10:45003867:T:G | Y167D | 0.988 |
dbSNP variants (sampled 300 via entrez): RS1000231261 (10:45002882 T>C), RS1000242437 (10:45000756 C>T), RS1000523991 (10:44999087 G>T), RS1000629693 (10:45003292 T>C), RS1000790005 (10:45005489 A>G), RS1001906686 (10:45002387 TGCA>T), RS1002437486 (10:45004381 T>G), RS1002573003 (10:45003134 T>C,G), RS1002878600 (10:45004135 T>A,C), RS1003179358 (10:45002730 T>A), RS1003290729 (10:45005611 A>G), RS1004072125 (10:45003829 T>G), RS1004364390 (10:45004433 G>A,C), RS1004666033 (10:45003187 G>T), RS1005079384 (10:45002346 C>T)
Disease associations
OMIM: gene MIM:194529 | 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
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, decreases methylation | 4 |
| trichostatin A | decreases expression, affects cotreatment | 2 |
| Tretinoin | decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | decreases expression | 1 |
| tobacco tar | decreases expression, decreases reaction | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Decitabine | decreases reaction, decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Ethanol | affects cotreatment, decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Cisplatin | decreases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
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.