ZHX3
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Also known as KIAA0395
Summary
ZHX3 (zinc fingers and homeoboxes 3, HGNC:15935) is a protein-coding gene on chromosome 20q12, encoding Zinc fingers and homeoboxes protein 3 (Q9H4I2). Acts as a transcriptional repressor.
This gene encodes a member of the zinc fingers and homeoboxes (ZHX) gene family. The encoded protein contains two C2H2-type zinc fingers and five homeodomains and forms a dimer with itself or with zinc fingers and homeoboxes family member 1. In the nucleus, the dimerized protein interacts with the A subunit of the ubiquitous transcription factor nuclear factor-Y and may function as a transcriptional repressor.
Source: NCBI Gene 23051 — RefSeq curated summary.
At a glance
- GWAS associations: 39
- Clinical variants (ClinVar): 251 total
- MANE Select transcript:
NM_001384317
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15935 |
| Approved symbol | ZHX3 |
| Name | zinc fingers and homeoboxes 3 |
| Location | 20q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0395 |
| Ensembl gene | ENSG00000174306 |
| Ensembl biotype | protein_coding |
| OMIM | 609598 |
| Entrez | 23051 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 19 protein_coding, 7 protein_coding_CDS_not_defined
ENST00000309060, ENST00000373261, ENST00000419740, ENST00000421422, ENST00000432768, ENST00000436099, ENST00000436440, ENST00000485686, ENST00000487057, ENST00000544979, ENST00000558993, ENST00000559028, ENST00000559234, ENST00000559296, ENST00000559436, ENST00000560361, ENST00000560364, ENST00000560456, ENST00000560759, ENST00000561291, ENST00000683867, ENST00000895799, ENST00000895800, ENST00000895801, ENST00000895802, ENST00000912257
RefSeq mRNA: 12 — MANE Select: NM_001384317
NM_001384315, NM_001384316, NM_001384317, NM_001384318, NM_001384319, NM_001384320, NM_001384321, NM_001384322, NM_001384323, NM_001384324, NM_001384325, NM_015035
CCDS: CCDS13315, CCDS93040
Canonical transcript exons
ENST00000683867 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001526829 | 41268990 | 41269083 |
| ENSE00002546085 | 41317509 | 41317731 |
| ENSE00003698803 | 41202057 | 41205066 |
| ENSE00003916170 | 41178455 | 41185201 |
Expression profiles
Bgee: expression breadth ubiquitous, 287 present calls, max score 94.91.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.0833 / max 160.4231, expressed in 1775 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 187278 | 14.2950 | 1763 |
| 187279 | 2.6666 | 980 |
| 187280 | 1.0539 | 625 |
| 187281 | 0.0363 | 15 |
| 187276 | 0.0274 | 3 |
| 187277 | 0.0042 | 3 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 94.91 | gold quality |
| mucosa of stomach | UBERON:0001199 | 92.56 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.24 | gold quality |
| ventricular zone | UBERON:0003053 | 90.26 | gold quality |
| corpus callosum | UBERON:0002336 | 90.21 | gold quality |
| stromal cell of endometrium | CL:0002255 | 90.19 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 90.02 | gold quality |
| lower esophagus | UBERON:0013473 | 89.94 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 89.77 | gold quality |
| popliteal artery | UBERON:0002250 | 89.47 | gold quality |
| tibial artery | UBERON:0007610 | 89.46 | gold quality |
| tendon | UBERON:0000043 | 89.09 | gold quality |
| medial globus pallidus | UBERON:0002477 | 88.86 | gold quality |
| aorta | UBERON:0000947 | 88.57 | gold quality |
| nucleus accumbens | UBERON:0001882 | 88.44 | gold quality |
| left testis | UBERON:0004533 | 88.41 | gold quality |
| caudate nucleus | UBERON:0001873 | 88.22 | gold quality |
| globus pallidus | UBERON:0001875 | 88.18 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 88.08 | gold quality |
| right testis | UBERON:0004534 | 87.99 | gold quality |
| renal medulla | UBERON:0000362 | 87.97 | gold quality |
| putamen | UBERON:0001874 | 87.85 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 87.84 | gold quality |
| left coronary artery | UBERON:0001626 | 87.77 | gold quality |
| thoracic aorta | UBERON:0001515 | 87.50 | gold quality |
| amygdala | UBERON:0001876 | 87.45 | gold quality |
| right coronary artery | UBERON:0001625 | 87.39 | gold quality |
| coronary artery | UBERON:0001621 | 87.38 | gold quality |
| ascending aorta | UBERON:0001496 | 87.29 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 87.27 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 14.74 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
3 targets.
| Target | Regulation |
|---|---|
| HK2 | Repression |
| ZHX2 | |
| ZHX3 |
Upstream regulators (CollecTRI, top): ZHX2, ZHX3
miRNA regulators (miRDB)
192 targeting ZHX3, 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-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-520G-5P | 99.99 | 66.76 | 658 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| 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-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
Literature-anchored findings (GeneRIF, showing 6)
- dimerizes with both ZHX1 and ZHX3, also interacts with the activation domain of the NF-YA (PMID:12659632)
- ZHX proteins 1, 2 and 3 are major transcriptional mediators of podocyte disease (PMID:17056598)
- ZHX3 is involved in the switch from the undifferentiated state of mesenchymal stem cells to an osteogenic program (PMID:21174497)
- ZHX3 expression in renal cell carcinoma (PMID:28152006)
- ZHX3 promotes the progression of urothelial carcinoma of the bladder via repressing of RGS2 and is a novel substrate of TRIM21. (PMID:33440047)
- Loss of the transcription repressor ZHX3 induces senescence-associated gene expression and mitochondrial-nucleolar activation. (PMID:35085309)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zhx3b | ENSDARG00000019774 |
| danio_rerio | zhx3a | ENSDARG00000087186 |
| mus_musculus | Zhx3 | ENSMUSG00000035877 |
| rattus_norvegicus | Zhx3 | ENSRNOG00000027988 |
Paralogs (3): ZHX1 (ENSG00000165156), ZHX2 (ENSG00000178764), HOMEZ (ENSG00000290292)
Protein
Protein identifiers
Zinc fingers and homeoboxes protein 3 — Q9H4I2 (reviewed: Q9H4I2)
Alternative names: Triple homeobox protein 1, Zinc finger and homeodomain protein 3
All UniProt accessions (8): Q9H4I2, A0A0A0MST6, A0A0A0MSU5, F6UBH9, F6UQN6, H0Y6F5, H0YLR4, H0YNY7
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a transcriptional repressor. Involved in the early stages of mesenchymal stem cell (MSC) osteogenic differentiation. Is a regulator of podocyte gene expression during primary glomerula disease. Binds to promoter DNA.
Subunit / interactions. Homodimer (via homeobox domain 1). Heterodimer with ZHX1 (via homeobox domain 1). Heterodimer with ZHX2 (via homeobox domain 1). Heterodimerization with ZHX1 is a prerequisite for repressor activity. Interacts with NFYA.
Subcellular location. Nucleus.
Tissue specificity. Widely expressed. High expression in kidney. Expressed during osteogenic differentiation.
Induction. Up-regulated during osteogenic differentiation of mesenchymal stem cells.
Similarity. Belongs to the ZHX family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H4I2-1 | 1 | yes |
| Q9H4I2-2 | 2 |
RefSeq proteins (12): NP_001371244, NP_001371245, NP_001371246, NP_001371247, NP_001371248, NP_001371249, NP_001371250, NP_001371251, NP_001371252, NP_001371253, NP_001371254, NP_055850 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001356 | HD | Domain |
| IPR009057 | Homeodomain-like_sf | Homologous_superfamily |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR024578 | Homez_homeobox_dom | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR041057 | ZHX_Znf_C2H2 | Domain |
Pfam: PF00046, PF11569, PF18387
UniProt features (40 total): region of interest 8, modified residue 7, helix 7, DNA-binding region 5, compositionally biased region 3, strand 3, zinc finger region 2, sequence conflict 2, chain 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2DA5 | SOLUTION NMR | |
| 2DN0 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H4I2-F1 | 60.80 | 0.23 |
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 (7): 599, 604, 680, 708, 723, 927, 946
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 0 (showing top):
GO Biological Process (5): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), cell differentiation (GO:0030154), positive regulation of osteoblast differentiation (GO:0045669), negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (9): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), protein homodimerization activity (GO:0042803), protein heterodimerization activity (GO:0046982), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 3 |
| regulation of transcription by RNA polymerase II | 2 |
| transcription by RNA polymerase II | 2 |
| transcription cis-regulatory region binding | 2 |
| protein dimerization activity | 2 |
| cellular anatomical structure | 2 |
| negative regulation of DNA-templated transcription | 1 |
| cellular developmental process | 1 |
| osteoblast differentiation | 1 |
| positive regulation of cell differentiation | 1 |
| regulation of osteoblast differentiation | 1 |
| DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| chromatin | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity | 1 |
| transcription regulator activity | 1 |
| transition metal ion binding | 1 |
| identical protein binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
Protein interactions and networks
STRING
854 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZHX3 | NFYA | P23511 | 856 |
| ZHX3 | ZHX2 | Q9Y6X8 | 485 |
| ZHX3 | RPN2 | P04844 | 472 |
| ZHX3 | TBC1D31 | Q96DN5 | 456 |
| ZHX3 | DHX35 | Q9H5Z1 | 437 |
| ZHX3 | SACK1A | Q86UY5 | 426 |
| ZHX3 | LPIN3 | Q9BQK8 | 419 |
| ZHX3 | GGT7 | Q9UJ14 | 418 |
| ZHX3 | RAB5IF | Q9BUV8 | 415 |
| ZHX3 | BTBD9 | Q96Q07 | 411 |
| ZHX3 | TOP1 | P11387 | 407 |
| ZHX3 | ZFR | Q96KR1 | 403 |
| ZHX3 | DERL1 | Q9BUN8 | 395 |
| ZHX3 | ATAD2 | Q6PL18 | 384 |
| ZHX3 | ARHGAP31 | Q2M1Z3 | 376 |
IntAct
30 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZHX3 | NLK | psi-mi:“MI:0915”(physical association) | 0.670 |
| ZHX3 | RPL7A | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZHX3 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| NTAQ1 | SBNO1 | psi-mi:“MI:0914”(association) | 0.350 |
| PDIA6 | PLS1 | psi-mi:“MI:0914”(association) | 0.350 |
| ARID1A | psi-mi:“MI:0914”(association) | 0.350 | |
| CSNK2B | OSBPL8 | psi-mi:“MI:0914”(association) | 0.350 |
| HDAC1 | psi-mi:“MI:0914”(association) | 0.350 | |
| HDAC2 | psi-mi:“MI:0914”(association) | 0.350 | |
| ECHDC2 | DBT | psi-mi:“MI:0914”(association) | 0.350 |
| AR | MED6 | psi-mi:“MI:2364”(proximity) | 0.270 |
| RAVER1 | KDM6A | psi-mi:“MI:2364”(proximity) | 0.270 |
| SRF | ZNF292 | psi-mi:“MI:2364”(proximity) | 0.270 |
| KLF12 | psi-mi:“MI:2364”(proximity) | 0.270 | |
| KLF3 | MCRIP1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SOX5 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SOX6 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| YY1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SWSAP1 | NACA | psi-mi:“MI:2364”(proximity) | 0.270 |
| TLK2 | SBNO1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SMC5 | DKFZp686H10254 | psi-mi:“MI:2364”(proximity) | 0.270 |
| ZHX3 | psi-mi:“MI:0915”(physical association) | 0.000 | |
| ATXN1 | ZHX3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (62): NLK (Two-hybrid), ZHX3 (Affinity Capture-MS), ZHX3 (Two-hybrid), ZHX3 (Proximity Label-MS), NLK (Two-hybrid), ZHX3 (Affinity Capture-MS), ZHX3 (Affinity Capture-MS), ZHX3 (Affinity Capture-MS), ZHX3 (Reconstituted Complex), ZHX2 (Reconstituted Complex), ZHX2 (Two-hybrid), ZHX3 (Affinity Capture-RNA), ZHX3 (Proximity Label-MS), ZHX1 (Two-hybrid), ZHX3 (Reconstituted Complex)
ESM2 similar proteins: A1YF22, A1YG99, A2T771, A2T7S4, B3DJM5, D3ZKB9, H2L008, O42410, O73590, P34303, P70121, Q03112, Q15652, Q15723, Q19418, Q21502, Q24478, Q2HNT1, Q2HNT2, Q2TB10, Q3UG20, Q58F21, Q5DTH5, Q5R7F2, Q5RCU4, Q61SK8, Q63HK5, Q66J63, Q69ZW3, Q6GN21, Q6P2L6, Q6ZSZ6, Q80VX4, Q86MI0, Q86T24, Q86UP3, Q8BN78, Q8C0C0, Q8CGV9, Q8IZD2
Diamond homologs: A1YF22, A1YG99, A2T771, A2T7S4, P70121, Q5R7F2, Q80VX4, Q80Z36, Q8C0C0, Q8C0Q2, Q8IX15, Q8R515, Q9H4I2, Q9UKY1, Q9Y6X8, Q80W88, Q8K3E9, Q61321, Q9UIU6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 32 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| chromatin remodeling | 5 | 12.2× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
251 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 166 |
| Likely benign | 61 |
| Benign | 14 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2127 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:41268977:A:AC | donor_gain | 1.0000 |
| 20:41268978:C:CC | donor_gain | 1.0000 |
| 20:41268988:A:AC | donor_gain | 1.0000 |
| 20:41268989:C:CC | donor_gain | 1.0000 |
| 20:41268989:CTT:C | donor_gain | 1.0000 |
| 20:41268991:T:TA | donor_gain | 1.0000 |
| 20:41272205:T:TA | donor_gain | 1.0000 |
| 20:41205063:CAAT:C | acceptor_gain | 0.9900 |
| 20:41205067:C:CC | acceptor_gain | 0.9900 |
| 20:41218657:T:TA | donor_gain | 0.9900 |
| 20:41238686:A:AC | donor_gain | 0.9900 |
| 20:41238687:C:CC | donor_gain | 0.9900 |
| 20:41268989:CTTCA:C | donor_gain | 0.9900 |
| 20:41269079:CAGTC:C | acceptor_gain | 0.9900 |
| 20:41184989:T:C | donor_gain | 0.9800 |
| 20:41184993:G:A | donor_gain | 0.9800 |
| 20:41185004:G:A | donor_gain | 0.9800 |
| 20:41185978:C:CC | acceptor_gain | 0.9800 |
| 20:41205062:TCAAT:T | acceptor_gain | 0.9800 |
| 20:41205063:CAATC:C | acceptor_gain | 0.9800 |
| 20:41205065:AT:A | acceptor_gain | 0.9800 |
| 20:41217118:A:T | acceptor_gain | 0.9800 |
| 20:41268983:T:TA | donor_gain | 0.9800 |
| 20:41268988:ACTT:A | donor_gain | 0.9800 |
| 20:41268989:CTTC:C | donor_gain | 0.9800 |
| 20:41299935:T:A | donor_gain | 0.9800 |
| 20:41184956:A:AC | donor_gain | 0.9700 |
| 20:41184957:C:CC | donor_gain | 0.9700 |
| 20:41200039:AC:A | donor_gain | 0.9700 |
| 20:41200040:CC:C | donor_gain | 0.9700 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000000650 (20:41290704 A>G), RS1000015065 (20:41192844 T>G), RS1000050729 (20:41190505 A>C), RS1000056477 (20:41276774 G>A), RS1000101660 (20:41239854 A>T), RS1000122405 (20:41206296 A>G), RS1000147342 (20:41186499 G>A), RS1000167580 (20:41301842 C>G), RS1000180815 (20:41233242 A>G), RS1000181172 (20:41260839 T>C,G), RS1000197641 (20:41253168 C>T), RS1000199908 (20:41302141 A>G), RS1000217411 (20:41296615 T>C), RS1000228956 (20:41269894 A>C), RS1000252627 (20:41214786 C>A)
Disease associations
OMIM: gene MIM:609598 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
39 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003804_5 | Non-response to bupropion and depression | 8.000000e-07 |
| GCST003818_33 | Resting heart rate | 1.000000e-08 |
| GCST005195_109 | Coronary artery disease | 1.000000e-08 |
| GCST005196_245 | Coronary artery disease | 2.000000e-08 |
| GCST005531_98 | Multiple sclerosis | 7.000000e-08 |
| GCST006004_22 | Low density lipoprotein cholesterol levels | 7.000000e-09 |
| GCST006034_7 | Total cholesterol levels | 4.000000e-09 |
| GCST006661_160 | Male-pattern baldness | 2.000000e-15 |
| GCST006979_542 | Heel bone mineral density | 7.000000e-45 |
| GCST007515_23 | Type 2 diabetes | 7.000000e-06 |
| GCST007517_24 | Type 2 diabetes | 9.000000e-08 |
| GCST007518_32 | Type 2 diabetes (adjusted for BMI) | 3.000000e-06 |
| GCST007858_9 | Fasting blood glucose adjusted for BMI | 4.000000e-07 |
| GCST008077_70 | LDL cholesterol levels | 5.000000e-09 |
| GCST008078_102 | LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 2.000000e-15 |
| GCST008078_32 | LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 1.000000e-09 |
| GCST008079_43 | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 4.000000e-46 |
| GCST008079_57 | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 9.000000e-11 |
| GCST008079_84 | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 4.000000e-46 |
| GCST008086_66 | LDL cholesterol levels in current drinkers | 1.000000e-09 |
| GCST008839_242 | Height | 5.000000e-10 |
| GCST009597_310 | Multiple sclerosis | 5.000000e-06 |
| GCST009597_38 | Multiple sclerosis | 3.000000e-06 |
| GCST010002_67 | Refractive error | 7.000000e-10 |
| GCST010703_20 | Brain morphology (MOSTest) | 1.000000e-09 |
| GCST010866_166 | Coronary artery disease | 5.000000e-10 |
| GCST011011_40 | Youthful appearance (self-reported) | 1.000000e-09 |
| GCST011365_7 | Myocardial infarction | 2.000000e-08 |
| GCST011494_101 | Daytime nap | 1.000000e-14 |
| GCST90020025_1661 | Waist-to-hip ratio adjusted for BMI | 7.000000e-10 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004574 | total cholesterol measurement |
| EFO:0009270 | heel bone mineral density |
| EFO:0004329 | alcohol drinking |
| EFO:0004346 | neuroimaging measurement |
| EFO:0007828 | daytime rest measurement |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008039 | BMI-adjusted hip circumference |
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 |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 3 |
| Benzo(a)pyrene | affects methylation, decreases expression | 3 |
| Air Pollutants | affects cotreatment, decreases expression, increases abundance | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| 2-butenal | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases 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 |
| Temozolomide | decreases expression | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Acrolein | affects cotreatment, decreases expression, increases abundance | 1 |
| Arsenic | affects expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Copper | affects binding, increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Disulfiram | affects binding, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
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): alopecia, mood disorder, myocardial infarction