ZNF609
gene geneOn this page
Also known as KIAA0295
Summary
ZNF609 (zinc finger protein 609, HGNC:29003) is a protein-coding gene on chromosome 15q22.1, encoding Zinc finger protein 609 (O15014). Transcription factor, which activates RAG1, and possibly RAG2, transcription.
Predicted to enable promoter-specific chromatin binding activity. Involved in regulation of myoblast proliferation. Located in nucleoplasm.
Source: NCBI Gene 23060 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 232 total
- MANE Select transcript:
NM_015042
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29003 |
| Approved symbol | ZNF609 |
| Name | zinc finger protein 609 |
| Location | 15q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0295 |
| Ensembl gene | ENSG00000180357 |
| Ensembl biotype | protein_coding |
| OMIM | 617474 |
| Entrez | 23060 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000326648, ENST00000416172, ENST00000558680, ENST00000559364, ENST00000925215, ENST00000925216
RefSeq mRNA: 1 — MANE Select: NM_015042
NM_015042
CCDS: CCDS32270
Canonical transcript exons
ENST00000326648 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001249288 | 64680646 | 64680862 |
| ENSE00001249293 | 64680185 | 64680360 |
| ENSE00001249301 | 64678116 | 64678482 |
| ENSE00001249308 | 64681309 | 64681387 |
| ENSE00001249311 | 64673916 | 64676256 |
| ENSE00001484299 | 64681692 | 64686068 |
| ENSE00001484308 | 64499293 | 64500166 |
| ENSE00003459229 | 64622827 | 64623052 |
| ENSE00003665263 | 64670346 | 64670433 |
| ENSE00003932992 | 64460578 | 64460838 |
Expression profiles
Bgee: expression breadth ubiquitous, 231 present calls, max score 93.54.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.8839 / max 197.0913, expressed in 1767 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 147176 | 8.3877 | 1746 |
| 147177 | 1.6801 | 976 |
| 147178 | 0.8161 | 445 |
Top tissues by expression
279 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 93.54 | gold quality |
| colonic epithelium | UBERON:0000397 | 92.60 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.38 | gold quality |
| cortical plate | UBERON:0005343 | 90.64 | gold quality |
| calcaneal tendon | UBERON:0003701 | 87.85 | gold quality |
| tendon | UBERON:0000043 | 86.83 | gold quality |
| medial globus pallidus | UBERON:0002477 | 86.46 | gold quality |
| buccal mucosa cell | CL:0002336 | 85.80 | gold quality |
| adrenal tissue | UBERON:0018303 | 85.57 | gold quality |
| left ovary | UBERON:0002119 | 84.86 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 84.71 | gold quality |
| stromal cell of endometrium | CL:0002255 | 84.23 | gold quality |
| globus pallidus | UBERON:0001875 | 84.19 | gold quality |
| right ovary | UBERON:0002118 | 84.18 | gold quality |
| embryo | UBERON:0000922 | 83.56 | gold quality |
| secondary oocyte | CL:0000655 | 83.26 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 83.00 | gold quality |
| lower esophagus | UBERON:0013473 | 82.99 | gold quality |
| islet of Langerhans | UBERON:0000006 | 82.69 | gold quality |
| mucosa of stomach | UBERON:0001199 | 82.69 | gold quality |
| ovary | UBERON:0000992 | 82.65 | gold quality |
| pancreatic ductal cell | CL:0002079 | 82.60 | silver quality |
| inferior olivary complex | UBERON:0002127 | 82.54 | gold quality |
| sural nerve | UBERON:0015488 | 82.53 | gold quality |
| body of uterus | UBERON:0009853 | 82.45 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 82.10 | gold quality |
| right uterine tube | UBERON:0001302 | 81.94 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 81.78 | gold quality |
| leukocyte | CL:0000738 | 81.77 | gold quality |
| monocyte | CL:0000576 | 81.69 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.62 |
| E-CURD-112 | no | 2.85 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
383 targeting ZNF609, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-520G-5P | 99.99 | 66.76 | 658 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| 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 |
Literature-anchored findings (GeneRIF, showing 9)
- these findings illustrated that cir-ZNF609 took part in the onset of HSCR through the crosstalk with AKT3 by competing for shared miR-150-5p. (PMID:27903978)
- Circular RNA circ-ZNF609 is associated with heavy polysomes, and it is translated into a protein in a splicing-dependent and cap-independent manner, resulting in a protein that controls myoblast proliferation. (PMID:28344082)
- our current study reveals the role of the circ-ZNF609/miR-138-5p/FOXP4 regulatory network in renal carcinoma and provides a new perspective for the pathogenesis of renal carcinoma. (PMID:30478938)
- CircRNA ZNF609 promotes growth and metastasis of nasopharyngeal carcinoma by competing with microRNA-150-5p. (PMID:31002133)
- Circ-ZNF609 promotes carcinogenesis of gastric cancer cells by inhibiting miRNA-145-5p expression. (PMID:31773689)
- CircRNA ZNF609 promotes angiogenesis in nasopharyngeal carcinoma by regulating miR-145/STMN1 axis. (PMID:33943007)
- YY1 and eIF4A3 are mediators of the cell proliferation, migration and invasion in cholangiocarcinoma promoted by circ-ZNF609 by targeting miR-432-5p to regulate LRRC1. (PMID:34898474)
- A protein encoded by circular ZNF609 RNA induces acute kidney injury by activating the AKT/mTOR-autophagy pathway. (PMID:36110046)
- CircZNF609 inhibits miR-150-5p to promote high glucose-induced damage to retinal microvascular endothelial cells. (PMID:38679361)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf609a | ENSDARG00000103388 |
| danio_rerio | znf609b | ENSDARG00000104530 |
| mus_musculus | Zfp609 | ENSMUSG00000040524 |
| rattus_norvegicus | Zfp609 | ENSRNOG00000015977 |
| drosophila_melanogaster | sbb | FBGN0285917 |
Paralogs (1): ZNF608 (ENSG00000168916)
Protein
Protein identifiers
Zinc finger protein 609 — O15014 (reviewed: O15014)
All UniProt accessions (2): O15014, E7ERY8
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor, which activates RAG1, and possibly RAG2, transcription. Through the regulation of RAG1/2 expression, may regulate thymocyte maturation. Along with NIPBL and the multiprotein complex Integrator, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others. Involved in the regulation of myoblast proliferation during myogenesis.
Subunit / interactions. Interacts (via N-terminus) with NIPBL. Interacts with INTS13; promoting association with the integrator complex.
Subcellular location. Nucleus Nucleus.
Tissue specificity. Isoform 1: Expressed in myoblasts and myotubes. Isoform 2: Expressed in myoblasts and myotubes, with a preference in undifferentiated myoblasts.
Induction. Isoform 1: Up-regulated during neuronal differentiation in retinoic acid-treated SH-SY5Y cells. Isoform 2: Down-regulated during myogenesis.
Miscellaneous. Produced by a back-splicing reaction which joins the 5’-splice site of the first coding exon with the 3’-splice site of the upstream intron resulting in a circular RNA, called circ-ZNF609. The translation starts with the same initiator methionine as that of the linear transcript encoding isoform 1. The stop codon is created upon circularization.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O15014-1 | 1 | yes |
| O15014-2 | 2 |
RefSeq proteins (1): NP_055857* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR040010 | ZN608/ZN609 | Family |
UniProt features (63 total): modified residue 22, compositionally biased region 19, region of interest 8, cross-link 5, splice variant 2, mutagenesis site 2, strand 2, chain 1, zinc finger region 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8PK5 | X-RAY DIFFRACTION | 2.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O15014-F1 | 45.99 | 0.04 |
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 (27): 358, 361, 379, 381, 413, 433, 446, 452, 467, 470, 533, 576, 578, 743, 746, 758, 804, 823, 842, 846 …
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 36 | abolished interaction with ints13 component of the integrator complex. |
| 37 | abolished interaction with ints13 component of the integrator complex. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 216 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_NEUROGENESIS, CACCAGC_MIR138, CTATGCA_MIR153, GTGCCTT_MIR506, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GTGTTGA_MIR505, GOBP_REGULATION_OF_NEURON_MIGRATION, GOBP_NEURON_MIGRATION, GOBP_POSITIVE_REGULATION_OF_NEURON_MIGRATION, CCCAGAG_MIR326, AGTCAGC_MIR345, CCAGGGG_MIR331, CTTTGTA_MIR524
GO Biological Process (5): regulation of transcription by RNA polymerase II (GO:0006357), muscle organ development (GO:0007517), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of myoblast proliferation (GO:2000291), positive regulation of neuron migration (GO:2001224)
GO Molecular Function (4): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), promoter-specific chromatin binding (GO:1990841), 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 |
|---|---|
| transcription by RNA polymerase II | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| regulation of DNA-templated transcription | 1 |
| animal organ development | 1 |
| muscle structure development | 1 |
| positive regulation of DNA-templated transcription | 1 |
| regulation of cell population proliferation | 1 |
| myoblast proliferation | 1 |
| neuron migration | 1 |
| positive regulation of cell migration | 1 |
| regulation of neuron migration | 1 |
| chromatin | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity | 1 |
| transition metal ion binding | 1 |
| chromatin binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1100 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF609 | SHPRH | Q149N8 | 732 |
| ZNF609 | EIF4G2 | P78344 | 701 |
| ZNF609 | MBNL3 | Q9NUK0 | 599 |
| ZNF609 | MBNL2 | Q5VZF2 | 592 |
| ZNF609 | ANKRD52 | Q8NB46 | 573 |
| ZNF609 | HIPK3 | Q9H422 | 565 |
| ZNF609 | MBNL1 | Q9NR56 | 564 |
| ZNF609 | FOXP4 | Q8IVH2 | 538 |
| ZNF609 | YTHDF3 | Q7Z739 | 527 |
| ZNF609 | QKI | Q96PU8 | 512 |
| ZNF609 | FBXW7 | Q969H0 | 506 |
| ZNF609 | FUS | P35637 | 488 |
| ZNF609 | PABPN1 | Q86U42 | 476 |
| ZNF609 | ITCH | Q96J02 | 466 |
| ZNF609 | AKT3 | Q9Y243 | 437 |
IntAct
142 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| 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 |
| RFPL4B | RFPL4A | psi-mi:“MI:0914”(association) | 0.640 |
| PIGT | ZNF609 | psi-mi:“MI:0914”(association) | 0.530 |
| SBSPON | ZNF609 | psi-mi:“MI:0914”(association) | 0.530 |
| BAG2 | HGS | psi-mi:“MI:0914”(association) | 0.530 |
| FLCN | ZNF609 | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC11A | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| PIP | TBKBP1 | psi-mi:“MI:0914”(association) | 0.530 |
| EXOC5 | ZNF609 | psi-mi:“MI:0914”(association) | 0.510 |
| EN1 | NFIB | psi-mi:“MI:2364”(proximity) | 0.470 |
| Dynll1 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| Magoh | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.350 |
| PRKCI | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.350 |
| ATL3 | SNX14 | psi-mi:“MI:0914”(association) | 0.350 |
| HDAC1 | TRAK1 | psi-mi:“MI:0914”(association) | 0.350 |
| INTS14 | DKFZP586J0619 | psi-mi:“MI:0914”(association) | 0.350 |
| USP7 | STIL | psi-mi:“MI:0914”(association) | 0.350 |
| AUTS2 | ZNF609 | psi-mi:“MI:0914”(association) | 0.350 |
| THSD4 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| FLCN | AGAP1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (173): ZNF609 (Affinity Capture-MS), ZNF609 (Affinity Capture-MS), ZNF609 (Affinity Capture-MS), ZNF609 (Affinity Capture-MS), ZNF609 (Affinity Capture-MS), ZNF609 (Affinity Capture-MS), ZNF609 (Affinity Capture-MS), ZNF609 (Affinity Capture-MS), ZNF609 (Affinity Capture-MS), ZNF609 (Affinity Capture-MS), ZNF609 (Proximity Label-MS), ZNF609 (Affinity Capture-MS), ZNF609 (Affinity Capture-MS), ZNF609 (Affinity Capture-MS), ZNF609 (Affinity Capture-MS)
ESM2 similar proteins: A0A0R4IBL7, A2A891, A3RK74, A4L7N3, B5DE09, E1BPQ1, G3V7R4, O15014, O43524, P11420, P15806, P15881, P15884, P15923, P21677, P30985, P51514, P70365, P98180, Q01978, Q12778, Q14135, Q15596, Q15788, Q4PJW2, Q53TQ3, Q60420, Q60722, Q61026, Q61286, Q62655, Q66IY8, Q66JJ0, Q6DIH5, Q6EUW2, Q6NZT6, Q6PCG7, Q7T2G1, Q7ZXS3, Q80V24
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 165 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 |
|---|---|---|---|
| RNA Polymerase III Transcription Termination | 5 | 24.1× | 4e-04 |
| Deactivation of the beta-catenin transactivating complex | 8 | 18.1× | 6e-06 |
| RNA Polymerase III Abortive And Retractive Initiation | 5 | 13.5× | 4e-03 |
| Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells) | 7 | 9.9× | 1e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| neuron fate specification | 5 | 23.9× | 2e-04 |
| cell fate commitment | 6 | 12.1× | 9e-04 |
| positive regulation of miRNA transcription | 6 | 11.9× | 9e-04 |
| cartilage development | 6 | 10.3× | 1e-03 |
| inner ear morphogenesis | 5 | 10.2× | 4e-03 |
| anatomical structure morphogenesis | 10 | 9.5× | 2e-05 |
| retina development in camera-type eye | 5 | 8.7× | 8e-03 |
| somatic stem cell population maintenance | 5 | 8.4× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
232 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 210 |
| Likely benign | 4 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2843 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:64526535:G:GT | donor_gain | 1.0000 |
| 15:64622824:C:G | acceptor_gain | 1.0000 |
| 15:64622825:A:AG | acceptor_gain | 1.0000 |
| 15:64622825:AGAT:A | acceptor_gain | 1.0000 |
| 15:64622826:G:GA | acceptor_gain | 1.0000 |
| 15:64622826:GAT:G | acceptor_gain | 1.0000 |
| 15:64622826:GATG:G | acceptor_gain | 1.0000 |
| 15:64623048:AGATG:A | donor_gain | 1.0000 |
| 15:64623049:GATG:G | donor_gain | 1.0000 |
| 15:64623049:GATGG:G | donor_gain | 1.0000 |
| 15:64623050:ATG:A | donor_gain | 1.0000 |
| 15:64623051:TG:T | donor_gain | 1.0000 |
| 15:64623052:GG:G | donor_gain | 1.0000 |
| 15:64623053:G:GA | donor_loss | 1.0000 |
| 15:64623053:G:GG | donor_gain | 1.0000 |
| 15:64623054:T:A | donor_loss | 1.0000 |
| 15:64640812:G:GT | donor_gain | 1.0000 |
| 15:64670430:CAAG:C | donor_loss | 1.0000 |
| 15:64670431:AAGG:A | donor_loss | 1.0000 |
| 15:64670432:AGGTA:A | donor_loss | 1.0000 |
| 15:64670433:GGTA:G | donor_loss | 1.0000 |
| 15:64670434:GT:G | donor_loss | 1.0000 |
| 15:64670435:T:A | donor_loss | 1.0000 |
| 15:64673909:T:TA | acceptor_gain | 1.0000 |
| 15:64673911:CCAA:C | acceptor_loss | 1.0000 |
| 15:64673912:CAAG:C | acceptor_loss | 1.0000 |
| 15:64673913:A:AG | acceptor_gain | 1.0000 |
| 15:64673913:AAG:A | acceptor_gain | 1.0000 |
| 15:64673914:A:C | acceptor_loss | 1.0000 |
| 15:64673914:A:G | acceptor_gain | 1.0000 |
AlphaMissense
9230 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:64499498:T:A | W27R | 1.000 |
| 15:64499498:T:C | W27R | 1.000 |
| 15:64499499:G:C | W27S | 1.000 |
| 15:64499500:G:C | W27C | 1.000 |
| 15:64499500:G:T | W27C | 1.000 |
| 15:64499505:T:A | I29N | 1.000 |
| 15:64499507:G:A | G30R | 1.000 |
| 15:64499507:G:C | G30R | 1.000 |
| 15:64499508:G:A | G30E | 1.000 |
| 15:64499513:G:A | G32R | 1.000 |
| 15:64499513:G:C | G32R | 1.000 |
| 15:64499513:G:T | G32W | 1.000 |
| 15:64499514:G:A | G32E | 1.000 |
| 15:64499514:G:T | G32V | 1.000 |
| 15:64499520:T:A | L34H | 1.000 |
| 15:64499520:T:C | L34P | 1.000 |
| 15:64499523:T:A | I35N | 1.000 |
| 15:64499523:T:C | I35T | 1.000 |
| 15:64499523:T:G | I35S | 1.000 |
| 15:64499526:T:A | I36N | 1.000 |
| 15:64499526:T:C | I36T | 1.000 |
| 15:64499526:T:G | I36S | 1.000 |
| 15:64499528:G:C | D37H | 1.000 |
| 15:64499529:A:C | D37A | 1.000 |
| 15:64499529:A:G | D37G | 1.000 |
| 15:64499529:A:T | D37V | 1.000 |
| 15:64499530:C:A | D37E | 1.000 |
| 15:64499530:C:G | D37E | 1.000 |
| 15:64499532:T:A | L38Q | 1.000 |
| 15:64499532:T:C | L38P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000001346 (15:64642522 A>G), RS1000021495 (15:64622143 T>C), RS1000028472 (15:64665686 G>C), RS1000037287 (15:64685897 C>G), RS1000052779 (15:64573661 C>G), RS1000055093 (15:64535264 G>A), RS1000073415 (15:64545351 A>G), RS1000087406 (15:64481809 A>C), RS1000087831 (15:64528119 T>G), RS1000088012 (15:64592577 A>G), RS1000090437 (15:64685208 T>C), RS1000101056 (15:64629324 G>A,T), RS1000152775 (15:64580666 C>T), RS1000167797 (15:64667008 T>C), RS1000169671 (15:64672828 G>A)
Disease associations
OMIM: gene MIM:617474 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005232_36 | Neuroticism | 3.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007660 | neuroticism measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, affects methylation | 3 |
| Cisplatin | decreases response to substance, decreases expression | 2 |
| Aflatoxin B1 | decreases expression, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| manganese chloride | increases abundance, decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| coumarin | increases phosphorylation | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| abrine | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | increases O-linked glycosylation, decreases activity | 1 |
| Lead | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2LV | Abcam HeLa ZNF609 KO | Cancer 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.