ZHX1
gene geneOn this page
Summary
ZHX1 (zinc fingers and homeoboxes 1, HGNC:12871) is a protein-coding gene on chromosome 8q24.13, encoding Zinc fingers and homeoboxes protein 1 (Q9UKY1). Acts as a transcriptional repressor.
The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 1 of this gene family. In addition to forming homodimers, this protein heterodimerizes with members 2 and 3 of the zinc fingers and homeoboxes family. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 8 open reading frame 76 (C8orf76) gene.
Source: NCBI Gene 11244 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 101 total
- MANE Select transcript:
NM_007222
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12871 |
| Approved symbol | ZHX1 |
| Name | zinc fingers and homeoboxes 1 |
| Location | 8q24.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000165156 |
| Ensembl biotype | protein_coding |
| OMIM | 604764 |
| Entrez | 11244 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 22 protein_coding, 4 protein_coding_CDS_not_defined
ENST00000297857, ENST00000395571, ENST00000480132, ENST00000517516, ENST00000522595, ENST00000522655, ENST00000524267, ENST00000602651, ENST00000863173, ENST00000863174, ENST00000863175, ENST00000863176, ENST00000863177, ENST00000863178, ENST00000863179, ENST00000863180, ENST00000863181, ENST00000863182, ENST00000863183, ENST00000863184, ENST00000863185, ENST00000956169, ENST00000956170, ENST00000956171, ENST00000956172, ENST00000956173
RefSeq mRNA: 2 — MANE Select: NM_007222
NM_001017926, NM_007222
CCDS: CCDS6342
Canonical transcript exons
ENST00000395571 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001090837 | 123253322 | 123256171 |
| ENSE00001522127 | 123274217 | 123274286 |
| ENSE00002138192 | 123248456 | 123250320 |
| ENSE00002184971 | 123267273 | 123267386 |
Expression profiles
Bgee: expression breadth ubiquitous, 262 present calls, max score 96.18.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.4068 / max 61.1321, expressed in 1560 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 94711 | 8.9741 | 1665 |
| 94715 | 3.8827 | 1425 |
| 94713 | 0.9118 | 522 |
| 94714 | 0.3855 | 189 |
| 94712 | 0.2268 | 88 |
Top tissues by expression
262 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| upper arm skin | UBERON:0004263 | 96.18 | gold quality |
| secondary oocyte | CL:0000655 | 96.17 | gold quality |
| oocyte | CL:0000023 | 95.97 | gold quality |
| kidney epithelium | UBERON:0004819 | 95.85 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.59 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 95.56 | gold quality |
| mammary duct | UBERON:0001765 | 95.55 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 95.50 | gold quality |
| cerebellar vermis | UBERON:0004720 | 95.41 | gold quality |
| medial globus pallidus | UBERON:0002477 | 95.20 | gold quality |
| medulla oblongata | UBERON:0001896 | 95.09 | gold quality |
| globus pallidus | UBERON:0001875 | 95.05 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 95.05 | gold quality |
| penis | UBERON:0000989 | 95.00 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 94.98 | gold quality |
| corpus callosum | UBERON:0002336 | 94.70 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 94.56 | gold quality |
| retina | UBERON:0000966 | 94.53 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 94.40 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 94.39 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 94.32 | gold quality |
| parotid gland | UBERON:0001831 | 94.31 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 94.27 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 94.25 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.25 | gold quality |
| embryo | UBERON:0000922 | 94.24 | gold quality |
| ventral tegmental area | UBERON:0002691 | 94.01 | gold quality |
| gingival epithelium | UBERON:0001949 | 93.72 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 93.66 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 93.56 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.06 |
| E-GEOD-106540 | no | 448.80 |
| E-MTAB-7606 | no | 199.48 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| ZHX1 |
Upstream regulators (CollecTRI, top): ETV4, YY1, ZHX1
miRNA regulators (miRDB)
185 targeting ZHX1, 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-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
Literature-anchored findings (GeneRIF, showing 12)
- This study characterized features of ZHX-1 involved in nuclear localization, dimerization, and transcriptional activity, and mapped these domains. (PMID:12237128)
- a search of ZHX1-interacting proteins using a yeast two-hybrid system (PMID:12659632)
- ZHX proteins 1, 2 and 3 are major transcriptional mediators of podocyte disease (PMID:17056598)
- ZHX1 enhanced the transcriptional repression mediated by DNMT3B when DNMT3B is directly targeted to DNA. These results showed for the first the direct linkage between DNMT and zinc-fingers homeoboxes protein, leading to enhanced gene silencing by DNMT3B (PMID:17303076)
- structure of the tandem zinc-finger region of human ZHX1 (PMID:19348505)
- Study showed that ZHX1 is SUMOylated by Ubc9 with SUMO1 at the sites K159, K454, and K626 and that the SUMOylation of ZHX1 regulated the stability, ubiquitination and transcriptional activity of ZHX1. (PMID:23686912)
- Low expression of ZHX1 may be responsible for hepatocarcinogenesis. (PMID:24064680)
- High-quality solution NMR structures of three homeodomains from human proteins ALX4, ZHX1 and CASP8AP2 were solved. (PMID:24941917)
- miR-199a-3p may function as a novel tumor promoter in gastric cancer and its oncogenic activity may involve the direct targeting and inhibition of ZHX1 (PMID:25448600)
- ZHX1 was found to play essential roles in the proliferation, migration, and invasion of cholangiocarcinoma cells, and its effect on the proliferation was mediated partially through EGR1. (PMID:27835650)
- ZHX1 expression is correlated with renal cell carcinoma progression and poor survival. (PMID:28152006)
- together, this study demonstrates that ZHX1 plays crucial roles in the progression of glioblastoma, and its findings suggest that ZHX1 be viewed as a potential prognostic maker and therapeutic target of glioblastoma. (PMID:28351300)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zhx1 | ENSMUSG00000022361 |
| rattus_norvegicus | Zhx1 | ENSRNOG00000006412 |
Paralogs (3): ZHX3 (ENSG00000174306), ZHX2 (ENSG00000178764), HOMEZ (ENSG00000290292)
Protein
Protein identifiers
Zinc fingers and homeoboxes protein 1 — Q9UKY1 (reviewed: Q9UKY1)
All UniProt accessions (2): Q9UKY1, U3KPX4
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a transcriptional repressor. Increases DNMT3B-mediated repressive transcriptional activity when DNMT3B is tethered to DNA. May link molecule between DNMT3B and other co-repressor proteins.
Subunit / interactions. Forms homodimers. Heterodimer (via HD1 domain) with ZHX2 (via HD1 domain). Also forms a heterodimer with ZHX3 which is a prerequisite for repressor activity. Interacts with ATF7IP and NFYA. Interacts (via homeobox domains) with DNMT3B (via PWWP domain).
Subcellular location. Nucleus.
Tissue specificity. Ubiquitously expressed. Expressed in podocytes.
Similarity. Belongs to the ZHX family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UKY1-1 | 1 | yes |
| Q96EF9-1 | 2, ZHX1-C8orf76 |
RefSeq proteins (2): NP_001017926, NP_009153* (*=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 (60 total): helix 13, region of interest 9, modified residue 7, strand 7, compositionally biased region 5, cross-link 5, DNA-binding region 5, turn 4, zinc finger region 2, sequence conflict 2, chain 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3NAR | X-RAY DIFFRACTION | 2.6 |
| 2ECB | SOLUTION NMR | |
| 2GHF | SOLUTION NMR | |
| 2LY9 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UKY1-F1 | 62.10 | 0.24 |
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 (12): 36, 45, 47, 48, 202, 648, 774, 159, 441, 454, 485, 629
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 145 (showing top):
TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GCM_ZNF198, GCM_PPM1D, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, ATTCTTT_MIR186, TAATGTG_MIR323, CUI_TCF21_TARGETS_2_DN, HOXA4_Q2, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, NIKOLSKY_BREAST_CANCER_8Q23_Q24_AMPLICON, GOMF_PROTEIN_HETERODIMERIZATION_ACTIVITY, GOMF_PROTEIN_DIMERIZATION_ACTIVITY, HAMAI_APOPTOSIS_VIA_TRAIL_UP, GCTCTTG_MIR335
GO Biological Process (4): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), cell differentiation (GO:0030154), negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (7): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), protein heterodimerization activity (GO:0046982), 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 |
| cellular anatomical structure | 2 |
| negative regulation of DNA-templated transcription | 1 |
| cellular developmental process | 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 |
| nucleic acid binding | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| transition metal ion binding | 1 |
| protein dimerization activity | 1 |
| binding | 1 |
| cation binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
Protein interactions and networks
STRING
644 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZHX1 | NFYA | P23511 | 938 |
| ZHX1 | DNMT3B | Q9UBC3 | 721 |
| ZHX1 | NFYC | Q13952 | 713 |
| ZHX1 | NFYB | P25208 | 614 |
| ZHX1 | ZMYND11 | Q15326 | 577 |
| ZHX1 | HOXC8 | P31273 | 568 |
| ZHX1 | CDC25C | P30307 | 488 |
| ZHX1 | MYC | P01106 | 473 |
| ZHX1 | MED21 | Q13503 | 450 |
| ZHX1 | USF2 | Q15853 | 439 |
| ZHX1 | CREB1 | P16220 | 393 |
| ZHX1 | KPNA2 | P52292 | 390 |
| ZHX1 | HOMEZ | Q8IX15 | 377 |
| ZHX1 | ATF6B | Q99941 | 375 |
| ZHX1 | DHX35 | Q9H5Z1 | 354 |
IntAct
119 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RIOK1 | PRMT5 | psi-mi:“MI:0914”(association) | 0.710 |
| ATXN1 | ZHX1 | psi-mi:“MI:0915”(physical association) | 0.700 |
| NFIC | NFIB | psi-mi:“MI:2364”(proximity) | 0.690 |
| ZHX1 | DNMT3B | psi-mi:“MI:0915”(physical association) | 0.610 |
| ZHX1 | DNMT3B | psi-mi:“MI:0403”(colocalization) | 0.610 |
| DNMT3B | ZHX1 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| ZHX1 | DNMT3B | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| ZHX1 | ZHX2 | psi-mi:“MI:0915”(physical association) | 0.590 |
| ZMYND11 | ZHX1 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| ZHX1 | ZMYND11 | psi-mi:“MI:0915”(physical association) | 0.590 |
| YY1 | YY2 | psi-mi:“MI:0914”(association) | 0.570 |
| HTT | ZHX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| WDR83 | SH2B2 | psi-mi:“MI:0914”(association) | 0.530 |
| UBE2I | ZHX1 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (134): UBE2I (Two-hybrid), ZHX1 (Affinity Capture-Western), UBE2I (Affinity Capture-Western), ZHX1 (Affinity Capture-MS), ZHX1 (Affinity Capture-MS), ZHX2 (Affinity Capture-MS), ZHX1 (Affinity Capture-MS), ZHX1 (Affinity Capture-MS), ZHX1 (Proximity Label-MS), ZHX1 (Two-hybrid), ZMYND11 (Two-hybrid), ATXN1 (Two-hybrid), EFNA2 (Two-hybrid), ELL (Two-hybrid), ZHX1 (Two-hybrid)
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
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ZHX1 | “down-regulates activity” | ZMYND11 | binding |
| UBE2I | “up-regulates quantity by stabilization” | ZHX1 | sumoylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 100 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 |
|---|---|---|---|
| Regulation of TP53 Activity through Acetylation | 5 | 30.4× | 3e-04 |
| KEAP1-NFE2L2 pathway | 7 | 11.2× | 8e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cellular response to retinoic acid | 5 | 12.7× | 4e-03 |
| chromatin remodeling | 10 | 7.9× | 8e-05 |
| transcription by RNA polymerase II | 8 | 6.1× | 4e-03 |
| positive regulation of apoptotic process | 9 | 5.5× | 3e-03 |
| positive regulation of gene expression | 10 | 4.2× | 8e-03 |
| negative regulation of apoptotic process | 11 | 4.2× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
101 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 96 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
786 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:123250318:CAG:C | acceptor_gain | 1.0000 |
| 8:123250321:C:CC | acceptor_gain | 1.0000 |
| 8:123267271:A:AC | donor_gain | 1.0000 |
| 8:123267272:C:CC | donor_gain | 1.0000 |
| 8:123267274:TGCC:T | donor_gain | 1.0000 |
| 8:123267284:T:TA | donor_gain | 1.0000 |
| 8:123269030:T:A | donor_gain | 1.0000 |
| 8:123250138:T:TA | donor_gain | 0.9900 |
| 8:123250138:TCC:T | donor_gain | 0.9900 |
| 8:123250320:GC:G | acceptor_loss | 0.9900 |
| 8:123267273:TTGC:T | donor_gain | 0.9900 |
| 8:123274125:T:A | donor_gain | 0.9900 |
| 8:123250122:T:C | donor_gain | 0.9800 |
| 8:123250127:A:C | donor_gain | 0.9800 |
| 8:123250316:GGCAG:G | acceptor_gain | 0.9800 |
| 8:123250317:GCAG:G | acceptor_gain | 0.9800 |
| 8:123250318:CAGC:C | acceptor_gain | 0.9800 |
| 8:123250319:AG:A | acceptor_gain | 0.9800 |
| 8:123253320:A:AC | donor_gain | 0.9800 |
| 8:123253321:C:CC | donor_gain | 0.9800 |
| 8:123267290:G:C | donor_gain | 0.9800 |
| 8:123267387:C:CC | acceptor_gain | 0.9800 |
| 8:123250137:TTC:T | donor_gain | 0.9700 |
| 8:123253321:CATTT:C | donor_gain | 0.9700 |
| 8:123267272:CTTG:C | donor_gain | 0.9700 |
| 8:123250159:A:C | donor_gain | 0.9600 |
| 8:123250319:A:T | acceptor_gain | 0.9600 |
| 8:123253321:CATT:C | donor_gain | 0.9600 |
| 8:123267275:G:A | donor_gain | 0.9600 |
| 8:123267386:CCTA:C | acceptor_loss | 0.9600 |
AlphaMissense
5783 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:123253494:A:G | F818S | 1.000 |
| 8:123253498:A:G | W817R | 1.000 |
| 8:123253498:A:T | W817R | 1.000 |
| 8:123253506:A:T | V814D | 1.000 |
| 8:123253539:A:G | L803P | 1.000 |
| 8:123253548:A:G | L800P | 1.000 |
| 8:123253593:A:G | L785P | 1.000 |
| 8:123253593:A:T | L785H | 1.000 |
| 8:123253781:C:A | W722C | 1.000 |
| 8:123253781:C:G | W722C | 1.000 |
| 8:123253783:A:G | W722R | 1.000 |
| 8:123253783:A:T | W722R | 1.000 |
| 8:123253812:C:G | R712P | 1.000 |
| 8:123253813:G:T | R712S | 1.000 |
| 8:123253823:A:C | F708L | 1.000 |
| 8:123253823:A:T | F708L | 1.000 |
| 8:123253824:A:G | F708S | 1.000 |
| 8:123253825:A:G | F708L | 1.000 |
| 8:123253828:A:G | W707R | 1.000 |
| 8:123253828:A:T | W707R | 1.000 |
| 8:123253893:G:T | P685Q | 1.000 |
| 8:123253910:A:C | F679L | 1.000 |
| 8:123253910:A:T | F679L | 1.000 |
| 8:123253912:A:G | F679L | 1.000 |
| 8:123253919:C:A | K676N | 1.000 |
| 8:123253919:C:G | K676N | 1.000 |
| 8:123253923:A:G | L675P | 1.000 |
| 8:123253923:A:T | L675H | 1.000 |
| 8:123254127:A:G | L607P | 1.000 |
| 8:123254399:C:A | R516S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000020950 (8:123272139 C>T), RS1000074255 (8:123258737 T>C), RS1000194978 (8:123269329 C>T), RS1000208535 (8:123276385 G>A,T), RS1000245260 (8:123273453 G>A), RS1000351038 (8:123275735 C>T), RS1000461655 (8:123251151 G>T), RS1000640549 (8:123267943 G>C), RS1000664087 (8:123276131 T>C), RS1000691396 (8:123267626 C>T), RS1000794212 (8:123258439 G>A,C), RS1000887800 (8:123258124 C>A,T), RS1000935091 (8:123261563 G>A), RS1001007443 (8:123264714 C>A,G,T), RS1001039128 (8:123254250 T>A)
Disease associations
OMIM: gene MIM:604764 | 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
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, increases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| p-Chloromercuribenzoic Acid | decreases expression, affects cotreatment | 2 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| methylparaben | decreases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Diazinon | increases methylation | 1 |
| Estradiol | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Tetrachlorodibenzodioxin | increases expression | 1 |
| Thiram | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Copper Sulfate | decreases 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.