ZNF343
gene geneOn this page
Also known as MGC10715
Summary
ZNF343 (zinc finger protein 343, HGNC:16017) is a protein-coding gene on chromosome 20p13, encoding Zinc finger protein 343 (Q6P1L6). May be involved in transcriptional regulation.
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.
Source: NCBI Gene 79175 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 116 total
- MANE Select transcript:
NM_024325
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16017 |
| Approved symbol | ZNF343 |
| Name | zinc finger protein 343 |
| Location | 20p13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC10715 |
| Ensembl gene | ENSG00000088876 |
| Ensembl biotype | protein_coding |
| Entrez | 79175 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 22 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay
ENST00000278772, ENST00000358413, ENST00000381253, ENST00000421216, ENST00000445484, ENST00000465019, ENST00000612935, ENST00000617391, ENST00000674000, ENST00000911235, ENST00000911236, ENST00000911237, ENST00000911238, ENST00000911239, ENST00000911240, ENST00000911241, ENST00000911242, ENST00000928350, ENST00000928351, ENST00000928352, ENST00000952204, ENST00000952205, ENST00000952206, ENST00000952207
RefSeq mRNA: 11 — MANE Select: NM_024325
NM_001282495, NM_001282496, NM_001282497, NM_001282498, NM_001282499, NM_001321800, NM_001321801, NM_001321802, NM_001321803, NM_001321805, NM_024325
CCDS: CCDS13028, CCDS74692, CCDS74693, CCDS74694
Canonical transcript exons
ENST00000278772 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001487976 | 2508881 | 2508915 |
| ENSE00003466077 | 2481817 | 2484656 |
| ENSE00003475814 | 2493778 | 2494044 |
| ENSE00003641561 | 2500656 | 2500742 |
| ENSE00003645952 | 2493519 | 2493577 |
| ENSE00003787668 | 2492699 | 2492825 |
Expression profiles
Bgee: expression breadth ubiquitous, 206 present calls, max score 87.17.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.3031 / max 114.8289, expressed in 1676 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 186096 | 5.3031 | 1676 |
Top tissues by expression
244 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibialis anterior | UBERON:0001385 | 87.17 | gold quality |
| secondary oocyte | CL:0000655 | 86.70 | gold quality |
| calcaneal tendon | UBERON:0003701 | 85.25 | gold quality |
| mucosa of stomach | UBERON:0001199 | 82.97 | gold quality |
| popliteal artery | UBERON:0002250 | 82.16 | gold quality |
| tibial artery | UBERON:0007610 | 82.16 | gold quality |
| gastrocnemius | UBERON:0001388 | 81.71 | gold quality |
| muscle of leg | UBERON:0001383 | 81.33 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 81.26 | gold quality |
| lower esophagus | UBERON:0013473 | 81.23 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 81.15 | gold quality |
| aorta | UBERON:0000947 | 81.10 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 80.96 | gold quality |
| body of uterus | UBERON:0009853 | 80.94 | gold quality |
| tendon | UBERON:0000043 | 80.68 | gold quality |
| tibial nerve | UBERON:0001323 | 80.20 | gold quality |
| ascending aorta | UBERON:0001496 | 80.17 | gold quality |
| thoracic aorta | UBERON:0001515 | 80.13 | gold quality |
| left coronary artery | UBERON:0001626 | 80.13 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 80.11 | gold quality |
| left ovary | UBERON:0002119 | 80.06 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 80.04 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 79.85 | gold quality |
| stromal cell of endometrium | CL:0002255 | 79.79 | gold quality |
| ectocervix | UBERON:0012249 | 79.70 | gold quality |
| skin of leg | UBERON:0001511 | 79.55 | gold quality |
| left uterine tube | UBERON:0001303 | 79.54 | gold quality |
| right ovary | UBERON:0002118 | 79.51 | gold quality |
| right coronary artery | UBERON:0001625 | 79.42 | gold quality |
| skin of abdomen | UBERON:0001416 | 79.27 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.25 |
| E-MTAB-6058 | no | 58.07 |
Regulation
Is transcription factor: yes
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1711.1 | ZNF343 | More than 3 adjacent zinc fingers |
| MA1711.2 | ZNF343 | More than 3 adjacent zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:28273063
Upstream regulators (CollecTRI, top): STAT1
miRNA regulators (miRDB)
52 targeting ZNF343, 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-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-1224-5P | 99.48 | 65.59 | 803 |
| HSA-MIR-4797-5P | 99.39 | 68.01 | 1354 |
| HSA-MIR-125A-5P | 99.36 | 70.59 | 1640 |
| HSA-MIR-125B-5P | 99.36 | 70.36 | 1662 |
| HSA-MIR-3191-5P | 99.24 | 66.52 | 1722 |
| HSA-MIR-485-5P | 99.10 | 64.78 | 1889 |
| HSA-MIR-6884-5P | 99.10 | 64.50 | 1987 |
| HSA-MIR-155-3P | 99.03 | 67.99 | 924 |
| HSA-MIR-452-3P | 99.01 | 66.25 | 1241 |
| HSA-MIR-6889-3P | 98.84 | 67.35 | 1198 |
| HSA-MIR-6895-3P | 98.79 | 65.69 | 996 |
| HSA-MIR-7113-3P | 98.75 | 65.71 | 1120 |
| HSA-MIR-330-5P | 98.73 | 67.63 | 1788 |
| HSA-MIR-1227-5P | 98.65 | 65.32 | 1549 |
| HSA-MIR-7155-5P | 98.65 | 66.14 | 1290 |
| HSA-MIR-6852-3P | 98.54 | 67.60 | 1468 |
| HSA-MIR-518C-5P | 98.53 | 69.20 | 1640 |
| HSA-MIR-4490 | 98.51 | 68.47 | 943 |
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| drosophila_melanogaster | CG2712 | FBGN0024975 |
| drosophila_melanogaster | Phs | FBGN0036522 |
| drosophila_melanogaster | CG3281 | FBGN0260741 |
Paralogs (62): ZNF582 (ENSG00000018869), ZNF264 (ENSG00000083844), ZNF684 (ENSG00000117010), ZNF133 (ENSG00000125846), ZNF557 (ENSG00000130544), ZNF337 (ENSG00000130684), ZNF20 (ENSG00000132010), ZFP37 (ENSG00000136866), ZNF614 (ENSG00000142556), KRBOX4 (ENSG00000147121), ZNF599 (ENSG00000153896), ZNF19 (ENSG00000157429), ZNF589 (ENSG00000164048), PRDM9 (ENSG00000164256), ZNF180 (ENSG00000167384), ZNF558 (ENSG00000167785), ZNF35 (ENSG00000169981), ZNF778 (ENSG00000170100), ZNF439 (ENSG00000171291), ZNF440 (ENSG00000171295), ZNF556 (ENSG00000172000), ZNF554 (ENSG00000172006), ZNF596 (ENSG00000172748), ZNF80 (ENSG00000174255), ZNF266 (ENSG00000174652), ZNF25 (ENSG00000175395), ZNF77 (ENSG00000175691), ZNF169 (ENSG00000175787), ZNF404 (ENSG00000176222), ZNF491 (ENSG00000177599), ZNF620 (ENSG00000177842), ZNF619 (ENSG00000177873), ZNF875 (ENSG00000181666), ZNF329 (ENSG00000181894), ZFP90 (ENSG00000184939), ZNF566 (ENSG00000186017), ZNF529 (ENSG00000186020), ZNF749 (ENSG00000186230), ZNF555 (ENSG00000186300), ZNF70 (ENSG00000187792)
Protein
Protein identifiers
Zinc finger protein 343 — Q6P1L6 (reviewed: Q6P1L6)
All UniProt accessions (5): Q6P1L6, A0A087WZQ2, A0A0A0MSR0, A0A0A0MT63, A0A669KB96
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in transcriptional regulation.
Subcellular location. Nucleus.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6P1L6-1 | 1 | yes |
| Q6P1L6-2 | 2 | |
| Q6P1L6-3 | 3 |
RefSeq proteins (11): NP_001269424, NP_001269425, NP_001269426, NP_001269427, NP_001269428, NP_001308729, NP_001308730, NP_001308731, NP_001308732, NP_001308734, NP_077301* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001909 | KRAB | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036051 | KRAB_dom_sf | Homologous_superfamily |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR048414 | PDRM9-like_Znf-C2H2 | Domain |
| IPR050589 | Ikaros_C2H2-ZF | Family |
Pfam: PF00096, PF01352, PF21225
UniProt features (21 total): zinc finger region 12, splice variant 3, chain 1, domain 1, region of interest 1, cross-link 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6P1L6-F1 | 67.58 | 0.42 |
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 (1): 435
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 55 (showing top):
MODULE_48, MODULE_95, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, MODULE_49, FIGUEROA_AML_METHYLATION_CLUSTER_3_UP, FIGUEROA_AML_METHYLATION_CLUSTER_6_UP, PEDRIOLI_MIR31_TARGETS_DN, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, MODULE_163, IL15_UP.V1_UP, IL2_UP.V1_UP, KRAS.600.LUNG.BREAST_UP.V1_DN, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, ASH1L_TARGET_GENES, CREB3L4_TARGET_GENES
GO Biological Process (3): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355), positive regulation of transcription by RNA polymerase II (GO:0045944)
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), zinc ion binding (GO:0008270), sequence-specific double-stranded DNA binding (GO:1990837), transcription cis-regulatory region binding (GO:0000976), DNA binding (GO:0003677), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565), metal ion binding (GO:0046872)
GO Cellular Component (1): nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase II Transcription | 1 |
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 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| positive regulation of DNA-templated transcription | 1 |
| transcription cis-regulatory region binding | 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 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| transcription regulatory region nucleic acid binding | 1 |
| sequence-specific double-stranded DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| DNA binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
610 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF343 | TMC3 | Q7Z5M5 | 506 |
| ZNF343 | SUMF2 | Q8NBJ7 | 433 |
| ZNF343 | STK35 | Q8TDR2 | 404 |
| ZNF343 | C3orf52 | Q5BVD1 | 400 |
| ZNF343 | CLVS2 | Q5SYC1 | 392 |
| ZNF343 | DENND10 | Q8TCE6 | 380 |
| ZNF343 | INTS14 | Q96SY0 | 371 |
| ZNF343 | TBC1D20 | Q96BZ9 | 369 |
| ZNF343 | SMIM26 | A0A096LP01 | 368 |
| ZNF343 | FAM110A | Q9BQ89 | 365 |
| ZNF343 | RNASE11 | Q8TAA1 | 359 |
| ZNF343 | SLC22A24 | Q8N4F4 | 358 |
| ZNF343 | SOX30 | O94993 | 355 |
| ZNF343 | GTF3C3 | Q9Y5Q9 | 333 |
| ZNF343 | AP5S1 | Q9NUS5 | 324 |
IntAct
68 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZNF343 | UBQLN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBQLN1 | ZNF343 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TEPSIN | ZNF343 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF835 | ZNF343 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PAX9 | ZNF343 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC125 | ZNF343 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLC4 | ZNF343 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF319 | ZNF343 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF343 | NME7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SDCBP | ZNF343 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF343 | FAM90A1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| USP20 | ZNF343 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF343 | NUDT22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BFSP2 | ZNF343 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF343 | NEK6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STK16 | ZNF343 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ACTN3 | ZNF343 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF343 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| RAD51D | ZNF343 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF343 | ZNF835 | psi-mi:“MI:0915”(physical association) | 0.560 |
| JRK | ZNF343 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RUNX1T1 | ZNF343 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF343 | CCDC125 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (25): ZNF343 (Two-hybrid), ZNF343 (Affinity Capture-RNA), ZNF343 (Two-hybrid), STK16 (Two-hybrid), NEK6 (Two-hybrid), ZNF835 (Two-hybrid), USP20 (Two-hybrid), KLC4 (Two-hybrid), SDCBP (Two-hybrid), NME7 (Two-hybrid), TRIM41 (Two-hybrid), NUDT22 (Two-hybrid), NXF1 (Two-hybrid), ZNF319 (Two-hybrid), ENTHD2 (Two-hybrid)
ESM2 similar proteins: A0A087WUV0, A0JNB1, A2VDP4, B2RUI1, P0CG31, P10072, P17025, P17036, P17097, P18733, P51814, Q08ER8, Q09FC8, Q0VGE8, Q14590, Q15937, Q16600, Q2M3X9, Q4V8A8, Q5CZA5, Q5R8G9, Q5RBX0, Q5VIY5, Q68DI1, Q6J6I6, Q6NX49, Q6P1L6, Q6PG37, Q6ZMS4, Q6ZMW2, Q80YP6, Q86UD4, Q86Y25, Q8IZ26, Q8N184, Q8NB42, Q8NEK5, Q8TAF7, Q8TF47, Q8WXB4
Diamond homologs: A2VDP4, A3KN32, A3KN36, A6NM28, A6QLU5, A6QPT6, A7MBI1, B4DU55, E9PYI1, G3X9G7, O60765, O75290, O75467, O94892, O95780, P10072, P15622, P17030, P17032, P17098, P21506, P51508, P51786, P52736, P52738, Q06730, Q06732, Q08DG8, Q14929, Q16587, Q29RZ4, Q2M218, Q2TL60, Q49AA0, Q4R8H9, Q4V8A8, Q571J5, Q5CZA5, Q5HYK9, Q5MCW4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
116 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 91 |
| Likely benign | 15 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
940 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:2492693:CCTTA:C | donor_loss | 1.0000 |
| 20:2492694:CTTA:C | donor_loss | 1.0000 |
| 20:2492695:TTA:T | donor_loss | 1.0000 |
| 20:2492696:TACC:T | donor_loss | 1.0000 |
| 20:2492697:A:AC | donor_gain | 1.0000 |
| 20:2492697:A:AG | donor_loss | 1.0000 |
| 20:2492697:AC:A | donor_gain | 1.0000 |
| 20:2492698:C:CC | donor_gain | 1.0000 |
| 20:2492698:CC:C | donor_gain | 1.0000 |
| 20:2492698:CCCA:C | donor_gain | 1.0000 |
| 20:2492714:T:TA | donor_gain | 1.0000 |
| 20:2492826:CTAC:C | acceptor_loss | 1.0000 |
| 20:2493518:CCA:C | donor_gain | 1.0000 |
| 20:2493573:CAAGC:C | acceptor_gain | 1.0000 |
| 20:2508941:T:TA | donor_gain | 1.0000 |
| 20:2492698:CCCAA:C | donor_gain | 0.9900 |
| 20:2492826:C:CC | acceptor_gain | 0.9900 |
| 20:2493512:AACTC:A | donor_loss | 0.9900 |
| 20:2493513:ACTC:A | donor_loss | 0.9900 |
| 20:2493513:ACTCA:A | donor_loss | 0.9900 |
| 20:2493514:CT:C | donor_loss | 0.9900 |
| 20:2493515:TCA:T | donor_loss | 0.9900 |
| 20:2493516:C:CG | donor_loss | 0.9900 |
| 20:2493517:A:AC | donor_gain | 0.9900 |
| 20:2493518:C:A | donor_loss | 0.9900 |
| 20:2493518:C:CA | donor_loss | 0.9900 |
| 20:2493518:C:CC | donor_gain | 0.9900 |
| 20:2493518:CCACT:C | donor_gain | 0.9900 |
| 20:2493576:GCC:G | acceptor_loss | 0.9900 |
| 20:2493576:GCCTA:G | acceptor_loss | 0.9900 |
AlphaMissense
3951 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:2484043:A:C | F306L | 0.998 |
| 20:2484043:A:T | F306L | 0.998 |
| 20:2484045:A:G | F306L | 0.998 |
| 20:2483455:A:C | F502L | 0.997 |
| 20:2483455:A:T | F502L | 0.997 |
| 20:2483457:A:G | F502L | 0.997 |
| 20:2483623:A:C | F446L | 0.997 |
| 20:2483623:A:T | F446L | 0.997 |
| 20:2483625:A:G | F446L | 0.997 |
| 20:2483707:A:C | F418L | 0.997 |
| 20:2483707:A:T | F418L | 0.997 |
| 20:2483709:A:G | F418L | 0.997 |
| 20:2483287:A:C | F558L | 0.996 |
| 20:2483287:A:T | F558L | 0.996 |
| 20:2483289:A:G | F558L | 0.996 |
| 20:2483371:A:C | F530L | 0.996 |
| 20:2483371:A:T | F530L | 0.996 |
| 20:2483373:A:G | F530L | 0.996 |
| 20:2483539:A:C | F474L | 0.996 |
| 20:2483539:A:T | F474L | 0.996 |
| 20:2483541:A:G | F474L | 0.996 |
| 20:2483203:A:C | F586L | 0.995 |
| 20:2483203:A:T | F586L | 0.995 |
| 20:2483205:A:G | F586L | 0.995 |
| 20:2483791:A:C | F390L | 0.995 |
| 20:2483791:A:T | F390L | 0.995 |
| 20:2483793:A:G | F390L | 0.995 |
| 20:2483690:A:G | L424P | 0.994 |
| 20:2483875:A:C | F362L | 0.994 |
| 20:2483875:A:T | F362L | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000062112 (20:2511696 A>G), RS1000188723 (20:2501390 G>C), RS1000269316 (20:2485284 C>A), RS1000367334 (20:2496957 G>A), RS1000388501 (20:2498698 A>G), RS1000440618 (20:2491856 AT>A,ATT), RS1000451603 (20:2500765 G>A), RS1000471851 (20:2491573 GA>G,GAA), RS1000507913 (20:2486696 G>A), RS1000523010 (20:2500610 G>A,T), RS1000541843 (20:2490196 C>A,T), RS1000578676 (20:2484964 C>T), RS1000727602 (20:2495026 T>C), RS1000777396 (20:2493420 T>C), RS1000795462 (20:2496621 T>C)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003139_20 | Glomerular filtration rate in chronic kidney disease | 2.000000e-06 |
| GCST004723_14 | Conotruncal heart defects (maternal effects) | 7.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
2 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs4815273 | ZNF343 | 3 | 0.00 | 1 | hydrochlorothiazide |
| rs6083538 | ZNF343 | 0.00 | 0 |
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects methylation, decreases expression | 3 |
| Arsenic | affects methylation, decreases methylation | 2 |
| TAK-243 | increases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| arsenite | increases methylation | 1 |
| nickel sulfate | decreases expression | 1 |
| 2-amino-3,8-dimethylimidazo(4,5-f)quinoxaline | increases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Amphotericin B | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | decreases 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): conotruncal heart malformations