ZNF608
geneOn this page
Also known as KIAA1281DKFZp434M098NY-REN-36
Summary
ZNF608 (zinc finger protein 608, HGNC:29238) is a protein-coding gene on chromosome 5q23.2, encoding Zinc finger protein 608 (Q9ULD9). Transcription factor, which represses ZNF609 transcription.
Predicted to enable zinc ion binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.
Source: NCBI Gene 57507 — RefSeq curated summary.
At a glance
- GWAS associations: 41
- Clinical variants (ClinVar): 186 total
- MANE Select transcript:
NM_020747
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29238 |
| Approved symbol | ZNF608 |
| Name | zinc finger protein 608 |
| Location | 5q23.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1281, DKFZp434M098, NY-REN-36 |
| Ensembl gene | ENSG00000168916 |
| Ensembl biotype | protein_coding |
| OMIM | 620972 |
| Entrez | 57507 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 4 protein_coding, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000306315, ENST00000503896, ENST00000504926, ENST00000505686, ENST00000509799, ENST00000511308, ENST00000512940, ENST00000513985, ENST00000513986
RefSeq mRNA: 4 — MANE Select: NM_020747
NM_001385619, NM_001385620, NM_001385621, NM_020747
CCDS: CCDS34219
Canonical transcript exons
ENST00000513986 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002068555 | 124746195 | 124746639 |
| ENSE00002075892 | 124744084 | 124745172 |
| ENSE00003482666 | 124701014 | 124701269 |
| ENSE00003490205 | 124646679 | 124649133 |
| ENSE00003490382 | 124649610 | 124649697 |
| ENSE00003508528 | 124639133 | 124639214 |
| ENSE00003596018 | 124641252 | 124641405 |
| ENSE00003643486 | 124643511 | 124643683 |
| ENSE00003681967 | 124644244 | 124644661 |
| ENSE00003916226 | 124636915 | 124637906 |
Expression profiles
Bgee: expression breadth ubiquitous, 241 present calls, max score 96.08.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.3863 / max 1727.4719, expressed in 1254 samples.
FANTOM5 promoters (16 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 63174 | 5.6205 | 984 |
| 63183 | 4.9307 | 887 |
| 63173 | 1.3510 | 486 |
| 63179 | 1.1985 | 380 |
| 63182 | 0.8769 | 313 |
| 63168 | 0.7582 | 401 |
| 63176 | 0.5934 | 261 |
| 63172 | 0.5839 | 238 |
| 63178 | 0.4610 | 196 |
| 63171 | 0.2977 | 167 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cardiac muscle of right atrium | UBERON:0003379 | 96.08 | gold quality |
| embryo | UBERON:0000922 | 94.57 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.57 | gold quality |
| ventricular zone | UBERON:0003053 | 94.29 | gold quality |
| corpus callosum | UBERON:0002336 | 92.77 | gold quality |
| adrenal tissue | UBERON:0018303 | 91.74 | gold quality |
| sural nerve | UBERON:0015488 | 88.41 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 87.95 | gold quality |
| spinal cord | UBERON:0002240 | 87.70 | gold quality |
| cerebellar vermis | UBERON:0004720 | 87.52 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 86.71 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 86.50 | gold quality |
| left adrenal gland | UBERON:0001234 | 86.40 | gold quality |
| adrenal cortex | UBERON:0001235 | 86.29 | gold quality |
| adrenal gland | UBERON:0002369 | 86.24 | gold quality |
| mucosa of stomach | UBERON:0001199 | 86.16 | gold quality |
| right adrenal gland | UBERON:0001233 | 85.97 | gold quality |
| cortical plate | UBERON:0005343 | 85.68 | gold quality |
| right uterine tube | UBERON:0001302 | 85.63 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 85.58 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 85.53 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 85.34 | gold quality |
| amygdala | UBERON:0001876 | 85.33 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 85.29 | gold quality |
| right lung | UBERON:0002167 | 85.12 | gold quality |
| cardiac atrium | UBERON:0002081 | 85.01 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 84.79 | gold quality |
| duodenum | UBERON:0002114 | 84.78 | gold quality |
| cerebellar cortex | UBERON:0002129 | 84.62 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 84.60 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-93593 | yes | 14.67 |
| E-ANND-3 | yes | 6.28 |
| E-GEOD-83139 | yes | 5.05 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
184 targeting ZNF608, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| 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-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| 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-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
Literature-anchored findings (GeneRIF, showing 1)
- Data indicate RNA Binding Protein with Multiple Splicing (RBPMS), Regulator of Chromosome Condensation and POZ Domain Containing Protein 1 (RCBTB1), and Zinc Finger protein 608 (ZNF608) as miR-21-3p target genes. (PMID:27166999)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zfp608 | ENSMUSG00000052713 |
| rattus_norvegicus | Zfp608 | ENSRNOG00000023197 |
| drosophila_melanogaster | sbb | FBGN0285917 |
Paralogs (1): ZNF609 (ENSG00000180357)
Protein
Protein identifiers
Zinc finger protein 608 — Q9ULD9 (reviewed: Q9ULD9)
Alternative names: Renal carcinoma antigen NY-REN-36
All UniProt accessions (4): A0A0C4DGB8, A2RRB2, B3KPE6, Q9ULD9
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor, which represses ZNF609 transcription.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9ULD9-1 | 1 | yes |
| Q9ULD9-2 | 2 |
RefSeq proteins (4): NP_001372548, NP_001372549, NP_001372550, NP_065798* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR040010 | ZN608/ZN609 | Family |
UniProt features (62 total): compositionally biased region 22, region of interest 13, cross-link 12, modified residue 9, chain 1, zinc finger region 1, coiled-coil region 1, splice variant 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9ULD9-F1 | 44.80 | 0.03 |
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 (21): 421, 424, 481, 493, 627, 782, 895, 964, 1098, 283, 880, 1118, 1176, 1182, 1199, 1216, 1234, 1250, 1292, 1310 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 219 (showing top):
MODULE_169, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, GCGCTTT_MIR518B_MIR518C_MIR518D, BILD_HRAS_ONCOGENIC_SIGNATURE, AGCGCTT_MIR518F_MIR518E_MIR518A, CATTTCA_MIR203, AAACCAC_MIR140, ATTCTTT_MIR186, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, TGCCTTA_MIR124A, GAVIN_FOXP3_TARGETS_CLUSTER_P3, GAVIN_IL2_RESPONSIVE_FOXP3_TARGETS_UP, ZHENG_BOUND_BY_FOXP3, ZHENG_FOXP3_TARGETS_IN_T_LYMPHOCYTE_UP, ZHAN_MULTIPLE_MYELOMA_CD2_UP
GO Biological Process (2): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357)
GO Molecular Function (2): zinc ion binding (GO:0008270), metal ion binding (GO:0046872)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transcription by RNA polymerase II | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| transition metal ion binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
658 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF608 | TMEM160 | Q9NX00 | 691 |
| ZNF608 | DNAJC27 | Q9NZQ0 | 606 |
| ZNF608 | MTIF3 | Q9H2K0 | 594 |
| ZNF608 | NUDT3 | O95989 | 583 |
| ZNF608 | POC5 | Q8NA72 | 575 |
| ZNF608 | QPCTL | Q9NXS2 | 571 |
| ZNF608 | GPRC5B | Q9NZH0 | 570 |
| ZNF608 | V9GXZ4 | V9GXZ4 | 570 |
| ZNF608 | GRAMD2B | Q96HH9 | 546 |
| ZNF608 | SEC16B | Q96JE7 | 544 |
| ZNF608 | GNPDA2 | Q8TDQ7 | 541 |
| ZNF608 | TNNI3K | Q59H18 | 541 |
| ZNF608 | ATN1 | P54259 | 536 |
| ZNF608 | LINGO2 | Q7L985 | 517 |
| ZNF608 | CADM2 | Q8N3J6 | 507 |
IntAct
54 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HDAC1 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.840 |
| HDAC1 | TNRC18 | psi-mi:“MI:0914”(association) | 0.790 |
| MED23 | MED19 | psi-mi:“MI:2364”(proximity) | 0.770 |
| DYNLL1 | BLTP3B | psi-mi:“MI:0914”(association) | 0.730 |
| HDAC1 | ZNF609 | psi-mi:“MI:0914”(association) | 0.730 |
| NFIC | NFIB | psi-mi:“MI:2364”(proximity) | 0.690 |
| DYNLL2 | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| EN1 | NFIB | psi-mi:“MI:2364”(proximity) | 0.470 |
| ZNF608 | ATN1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| AUTS2 | ZNF609 | psi-mi:“MI:0914”(association) | 0.350 |
| WDR5 | PHF20L1 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| SLC16A11 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| RAF1 | EIF3F | 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 |
| SOX7 | NFIB | psi-mi:“MI:2364”(proximity) | 0.270 |
| TBXT | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| ERG | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| FEV | TAF4 | psi-mi:“MI:2364”(proximity) | 0.270 |
| FOXI1 | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| FOXL1 | PGRMC1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| FOXQ1 | ZNF609 | psi-mi:“MI:2364”(proximity) | 0.270 |
| GATA2 | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| HNF1B | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| HNF4A | TAF4 | psi-mi:“MI:2364”(proximity) | 0.270 |
| IRF4 | ARID1A | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (99): ZNF608 (Affinity Capture-MS), ZNF608 (Proximity Label-MS), ZNF608 (Affinity Capture-MS), ZNF608 (Affinity Capture-RNA), ZNF608 (Affinity Capture-MS), ZNF608 (Affinity Capture-MS), ZNF608 (Proximity Label-MS), ZNF608 (Affinity Capture-MS), ZNF608 (Affinity Capture-MS), ZNF608 (Proximity Label-MS), ZNF608 (Proximity Label-MS), ZNF608 (Affinity Capture-MS), ZNF608 (Affinity Capture-MS), KANSL3 (Affinity Capture-MS), ZNF608 (Affinity Capture-MS)
ESM2 similar proteins: A2A935, A5GFT6, A5PK23, A5X7A0, A7MB40, A7XYH5, A7XYH9, A7XYI6, A7XYJ6, A7XYQ1, E1BE02, E2R9X2, E7F888, F1LMN3, F6NSX9, O15265, O95402, P78312, Q03989, Q04891, Q0P5V2, Q15911, Q3U108, Q56A10, Q58FA4, Q5ZJ69, Q5ZM88, Q61329, Q62255, Q68FE9, Q6PJG2, Q6ZSZ6, Q76L83, Q7YR76, Q86V15, Q8BZ32, Q8BZ47, Q8CGI1, Q8K4J6, Q8R4I1
Diamond homologs: O15014, Q56A10, Q8BZ47, Q9ULD9, Q9UTH8, P32432, Q5RDF5, Q80ZQ5, Q86VZ6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 65 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 |
|---|---|---|---|
| Deactivation of the beta-catenin transactivating complex | 5 | 25.3× | 3e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of transcription initiation by RNA polymerase II | 5 | 21.6× | 2e-04 |
| somatic stem cell population maintenance | 5 | 19.7× | 3e-04 |
| anatomical structure morphogenesis | 8 | 17.7× | 2e-06 |
| transcription by RNA polymerase II | 11 | 12.3× | 3e-07 |
| gene expression | 7 | 8.9× | 4e-04 |
| chromatin remodeling | 7 | 8.1× | 7e-04 |
| positive regulation of gene expression | 9 | 5.5× | 9e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
186 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 172 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1909 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:124639128:TTTA:T | donor_loss | 1.0000 |
| 5:124639129:TTAC:T | donor_loss | 1.0000 |
| 5:124639130:TA:T | donor_loss | 1.0000 |
| 5:124639131:ACCT:A | donor_loss | 1.0000 |
| 5:124639132:C:CA | donor_loss | 1.0000 |
| 5:124639132:CCTT:C | donor_gain | 1.0000 |
| 5:124641248:TGA:T | donor_loss | 1.0000 |
| 5:124641249:GAC:G | donor_loss | 1.0000 |
| 5:124641250:A:T | donor_loss | 1.0000 |
| 5:124641251:C:CT | donor_loss | 1.0000 |
| 5:124641401:ACAGG:A | acceptor_gain | 1.0000 |
| 5:124641402:CAGG:C | acceptor_gain | 1.0000 |
| 5:124641402:CAGGC:C | acceptor_gain | 1.0000 |
| 5:124641403:AGG:A | acceptor_gain | 1.0000 |
| 5:124641404:GG:G | acceptor_gain | 1.0000 |
| 5:124641404:GGCT:G | acceptor_loss | 1.0000 |
| 5:124641406:C:CC | acceptor_gain | 1.0000 |
| 5:124641406:CTGCA:C | acceptor_loss | 1.0000 |
| 5:124641407:T:C | acceptor_loss | 1.0000 |
| 5:124643505:GCTTA:G | donor_loss | 1.0000 |
| 5:124643506:CTTAC:C | donor_loss | 1.0000 |
| 5:124643508:TA:T | donor_loss | 1.0000 |
| 5:124643509:A:AC | donor_gain | 1.0000 |
| 5:124643509:AC:A | donor_loss | 1.0000 |
| 5:124643509:ACAG:A | donor_gain | 1.0000 |
| 5:124643510:C:CT | donor_gain | 1.0000 |
| 5:124643510:CA:C | donor_gain | 1.0000 |
| 5:124643510:CAG:C | donor_gain | 1.0000 |
| 5:124643510:CAGC:C | donor_gain | 1.0000 |
| 5:124643510:CAGCA:C | donor_gain | 1.0000 |
AlphaMissense
4655 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:124648663:T:G | Q574P | 1.000 |
| 5:124648667:G:C | H573D | 1.000 |
| 5:124648670:A:C | Y572D | 1.000 |
| 5:124648670:A:G | Y572H | 1.000 |
| 5:124648675:A:G | L570P | 1.000 |
| 5:124648675:A:T | L570Q | 1.000 |
| 5:124648678:C:A | G569V | 1.000 |
| 5:124648678:C:T | G569D | 1.000 |
| 5:124648679:C:A | G569C | 1.000 |
| 5:124648679:C:G | G569R | 1.000 |
| 5:124648689:C:A | K565N | 1.000 |
| 5:124648689:C:G | K565N | 1.000 |
| 5:124648693:T:C | Y564C | 1.000 |
| 5:124648693:T:G | Y564S | 1.000 |
| 5:124648694:A:C | Y564D | 1.000 |
| 5:124648694:A:G | Y564H | 1.000 |
| 5:124648694:A:T | Y564N | 1.000 |
| 5:124648698:T:A | K562N | 1.000 |
| 5:124648698:T:G | K562N | 1.000 |
| 5:124648699:T:A | K562I | 1.000 |
| 5:124648700:T:C | K562E | 1.000 |
| 5:124648704:G:C | C560W | 1.000 |
| 5:124648705:C:A | C560F | 1.000 |
| 5:124648705:C:G | C560S | 1.000 |
| 5:124648705:C:T | C560Y | 1.000 |
| 5:124648706:A:C | C560G | 1.000 |
| 5:124648706:A:G | C560R | 1.000 |
| 5:124648706:A:T | C560S | 1.000 |
| 5:124648719:A:C | C555W | 1.000 |
| 5:124648720:C:A | C555F | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000000396 (5:124745341 C>T), RS1000014558 (5:124689275 T>G), RS1000019869 (5:124700260 A>C), RS1000031178 (5:124715402 C>G,T), RS1000073354 (5:124699991 T>C), RS1000086213 (5:124651352 A>C), RS1000120564 (5:124665540 G>A), RS1000128118 (5:124709003 C>A,G), RS1000130255 (5:124748918 A>C), RS1000173083 (5:124650352 A>C,T), RS1000222691 (5:124706646 G>A), RS1000226098 (5:124658992 G>A), RS1000290327 (5:124702781 C>T), RS1000312462 (5:124670221 G>C), RS1000342179 (5:124669972 A>G)
Disease associations
OMIM: gene MIM:620972 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
41 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000824_6 | Erectile dysfunction and prostate cancer treatment | 4.000000e-06 |
| GCST000830_20 | Body mass index | 2.000000e-09 |
| GCST001521_30 | Subcutaneous adipose tissue | 7.000000e-07 |
| GCST002021_10 | Body mass index | 5.000000e-06 |
| GCST002339_2 | Type 2 diabetes (young onset) and obesity | 6.000000e-06 |
| GCST002690_5 | Very long-chain saturated fatty acid levels (fatty acid 20:0) | 2.000000e-06 |
| GCST002783_153 | Body mass index | 4.000000e-07 |
| GCST002783_206 | Body mass index | 2.000000e-07 |
| GCST003832_10 | Asthma (childhood onset) | 7.000000e-06 |
| GCST003996_45 | Monobrow | 2.000000e-14 |
| GCST004294_6 | Nicotine dependence | 2.000000e-06 |
| GCST004485_45 | Survival in pancreatic cancer | 8.000000e-07 |
| GCST004557_132 | Body mass index | 7.000000e-08 |
| GCST004557_186 | Body mass index | 7.000000e-08 |
| GCST004557_219 | Body mass index | 3.000000e-08 |
| GCST004557_53 | Body mass index | 3.000000e-08 |
| GCST004558_199 | Body mass index (joint analysis main effects and physical activity interaction) | 2.000000e-07 |
| GCST004558_237 | Body mass index (joint analysis main effects and physical activity interaction) | 3.000000e-08 |
| GCST004558_38 | Body mass index (joint analysis main effects and physical activity interaction) | 5.000000e-06 |
| GCST004558_89 | Body mass index (joint analysis main effects and physical activity interaction) | 5.000000e-08 |
| GCST004559_166 | Body mass index in physically active individuals | 2.000000e-08 |
| GCST004559_188 | Body mass index in physically active individuals | 6.000000e-08 |
| GCST004559_32 | Body mass index in physically active individuals | 2.000000e-06 |
| GCST004559_83 | Body mass index in physically active individuals | 3.000000e-08 |
| GCST004904_21 | Body mass index | 4.000000e-10 |
| GCST004904_72 | Body mass index | 2.000000e-10 |
| GCST007260_2 | B6 vitamer levels (multivariate analysis) | 8.000000e-07 |
| GCST007324_5 | Adventurousness | 3.000000e-11 |
| GCST007576_195 | Chronotype | 2.000000e-09 |
| GCST008575_10 | IgM levels | 4.000000e-09 |
EFO canonical traits (13, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0006796 | very long-chain saturated fatty acid measurement |
| EFO:0007906 | synophrys measurement |
| EFO:0000638 | overall survival |
| EFO:0008002 | physical activity measurement |
| EFO:0004621 | vitamin B6 measurement |
| EFO:0008579 | risk-taking behaviour |
| EFO:0008328 | chronotype measurement |
| EFO:0010474 | cystathionine measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004462 | PR interval |
| EFO:0004980 | appendicular lean mass |
| EFO:0009749 | age at first sexual intercourse measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
60 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression | 4 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| Air Pollutants | decreases expression, affects cotreatment, increases abundance | 3 |
| methylmercuric chloride | decreases expression, increases expression | 2 |
| bisphenol A | affects cotreatment, increases methylation, increases expression | 2 |
| sodium arsenite | decreases expression | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| sotorasib | affects cotreatment, decreases expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| propionaldehyde | increases expression | 1 |
| pirinixic acid | increases activity, affects binding, decreases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | increases methylation | 1 |
| sulforaphane | decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| Grape Seed Proanthocyanidins | decreases expression, affects cotreatment | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | increases methylation | 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): erectile dysfunction, nicotine dependence