ZNF343

gene
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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

FieldValue
HGNC IDHGNC:16017
Approved symbolZNF343
Namezinc finger protein 343
Location20p13
Locus typegene with protein product
StatusApproved
AliasesMGC10715
Ensembl geneENSG00000088876
Ensembl biotypeprotein_coding
Entrez79175

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

ExonStartEnd
ENSE0000148797625088812508915
ENSE0000346607724818172484656
ENSE0000347581424937782494044
ENSE0000364156125006562500742
ENSE0000364595224935192493577
ENSE0000378766824926992492825

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 IDTPM avgSamples expressed
1860965.30311676

Top tissues by expression

244 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
tibialis anteriorUBERON:000138587.17gold quality
secondary oocyteCL:000065586.70gold quality
calcaneal tendonUBERON:000370185.25gold quality
mucosa of stomachUBERON:000119982.97gold quality
popliteal arteryUBERON:000225082.16gold quality
tibial arteryUBERON:000761082.16gold quality
gastrocnemiusUBERON:000138881.71gold quality
muscle of legUBERON:000138381.33gold quality
lower esophagus muscularis layerUBERON:003583381.26gold quality
lower esophagusUBERON:001347381.23gold quality
esophagogastric junction muscularis propriaUBERON:003584181.15gold quality
aortaUBERON:000094781.10gold quality
muscle layer of sigmoid colonUBERON:003580580.96gold quality
body of uterusUBERON:000985380.94gold quality
tendonUBERON:000004380.68gold quality
tibial nerveUBERON:000132380.20gold quality
ascending aortaUBERON:000149680.17gold quality
thoracic aortaUBERON:000151580.13gold quality
left coronary arteryUBERON:000162680.13gold quality
descending thoracic aortaUBERON:000234580.11gold quality
left ovaryUBERON:000211980.06gold quality
hindlimb stylopod muscleUBERON:000425280.04gold quality
smooth muscle tissueUBERON:000113579.85gold quality
stromal cell of endometriumCL:000225579.79gold quality
ectocervixUBERON:001224979.70gold quality
skin of legUBERON:000151179.55gold quality
left uterine tubeUBERON:000130379.54gold quality
right ovaryUBERON:000211879.51gold quality
right coronary arteryUBERON:000162579.42gold quality
skin of abdomenUBERON:000141679.27gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes4.25
E-MTAB-6058no58.07

Regulation

Is transcription factor: yes

JASPAR motifs

MotifNameFamily
MA1711.1ZNF343More than 3 adjacent zinc fingers
MA1711.2ZNF343More 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):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-6870-5P99.9968.552115
HSA-MIR-450099.9972.722367
HSA-MIR-4482-3P99.9872.503147
HSA-MIR-4723-5P99.9768.702034
HSA-MIR-569899.9768.492029
HSA-MIR-7111-5P99.9768.482062
HSA-MIR-6845-3P99.9466.881439
HSA-MIR-6721-5P99.9368.922981
HSA-MIR-137-3P99.8774.742401
HSA-MIR-629-3P99.8567.991875
HSA-MIR-4713-5P99.7867.801794
HSA-MIR-431999.7669.832586
HSA-MIR-1224-5P99.4865.59803
HSA-MIR-4797-5P99.3968.011354
HSA-MIR-125A-5P99.3670.591640
HSA-MIR-125B-5P99.3670.361662
HSA-MIR-3191-5P99.2466.521722
HSA-MIR-485-5P99.1064.781889
HSA-MIR-6884-5P99.1064.501987
HSA-MIR-155-3P99.0367.99924
HSA-MIR-452-3P99.0166.251241
HSA-MIR-6889-3P98.8467.351198
HSA-MIR-6895-3P98.7965.69996
HSA-MIR-7113-3P98.7565.711120
HSA-MIR-330-5P98.7367.631788
HSA-MIR-1227-5P98.6565.321549
HSA-MIR-7155-5P98.6566.141290
HSA-MIR-6852-3P98.5467.601468
HSA-MIR-518C-5P98.5369.201640
HSA-MIR-449098.5168.47943

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
drosophila_melanogasterCG2712FBGN0024975
drosophila_melanogasterPhsFBGN0036522
drosophila_melanogasterCG3281FBGN0260741

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 343Q6P1L6 (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 IDNamesCanonical?
Q6P1L6-11yes
Q6P1L6-22
Q6P1L6-33

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)

IDNameType
IPR001909KRABDomain
IPR013087Znf_C2H2_typeDomain
IPR036051KRAB_dom_sfHomologous_superfamily
IPR036236Znf_C2H2_sfHomologous_superfamily
IPR048414PDRM9-like_Znf-C2H2Domain
IPR050589Ikaros_C2H2-ZFFamily

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)

ModelpLDDTFraction very-high
AF-Q6P1L6-F167.580.42

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

IDPathway
R-HSA-212436Generic 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:

CategoryPathways
RNA Polymerase II Transcription1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
transcription by RNA polymerase II2
regulation of transcription by RNA polymerase II2
regulation of DNA-templated transcription1
DNA-templated transcription1
regulation of gene expression1
regulation of RNA biosynthetic process1
positive regulation of DNA-templated transcription1
transcription cis-regulatory region binding1
chromatin1
RNA polymerase II transcription regulatory region sequence-specific DNA binding1
DNA-binding transcription factor activity1
transition metal ion binding1
double-stranded DNA binding1
sequence-specific DNA binding1
transcription regulatory region nucleic acid binding1
sequence-specific double-stranded DNA binding1
nucleic acid binding1
binding1
DNA binding1
cation binding1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

610 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ZNF343TMC3Q7Z5M5506
ZNF343SUMF2Q8NBJ7433
ZNF343STK35Q8TDR2404
ZNF343C3orf52Q5BVD1400
ZNF343CLVS2Q5SYC1392
ZNF343DENND10Q8TCE6380
ZNF343INTS14Q96SY0371
ZNF343TBC1D20Q96BZ9369
ZNF343SMIM26A0A096LP01368
ZNF343FAM110AQ9BQ89365
ZNF343RNASE11Q8TAA1359
ZNF343SLC22A24Q8N4F4358
ZNF343SOX30O94993355
ZNF343GTF3C3Q9Y5Q9333
ZNF343AP5S1Q9NUS5324

IntAct

68 interactions, top by confidence:

ABTypeScore
ZNF343UBQLN1psi-mi:“MI:0915”(physical association)0.560
UBQLN1ZNF343psi-mi:“MI:0915”(physical association)0.560
TEPSINZNF343psi-mi:“MI:0915”(physical association)0.560
ZNF835ZNF343psi-mi:“MI:0915”(physical association)0.560
PAX9ZNF343psi-mi:“MI:0915”(physical association)0.560
CCDC125ZNF343psi-mi:“MI:0915”(physical association)0.560
KLC4ZNF343psi-mi:“MI:0915”(physical association)0.560
ZNF319ZNF343psi-mi:“MI:0915”(physical association)0.560
ZNF343NME7psi-mi:“MI:0915”(physical association)0.560
SDCBPZNF343psi-mi:“MI:0915”(physical association)0.560
ZNF343FAM90A1psi-mi:“MI:0915”(physical association)0.560
USP20ZNF343psi-mi:“MI:0915”(physical association)0.560
ZNF343NUDT22psi-mi:“MI:0915”(physical association)0.560
BFSP2ZNF343psi-mi:“MI:0915”(physical association)0.560
ZNF343NEK6psi-mi:“MI:0915”(physical association)0.560
STK16ZNF343psi-mi:“MI:0915”(physical association)0.560
ACTN3ZNF343psi-mi:“MI:0915”(physical association)0.560
ZNF343TEPSINpsi-mi:“MI:0915”(physical association)0.560
RAD51DZNF343psi-mi:“MI:0915”(physical association)0.560
ZNF343ZNF835psi-mi:“MI:0915”(physical association)0.560
JRKZNF343psi-mi:“MI:0915”(physical association)0.560
RUNX1T1ZNF343psi-mi:“MI:0915”(physical association)0.560
ZNF343CCDC125psi-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):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance91
Likely benign15
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

940 predictions. Top by Δscore:

VariantEffectΔscore
20:2492693:CCTTA:Cdonor_loss1.0000
20:2492694:CTTA:Cdonor_loss1.0000
20:2492695:TTA:Tdonor_loss1.0000
20:2492696:TACC:Tdonor_loss1.0000
20:2492697:A:ACdonor_gain1.0000
20:2492697:A:AGdonor_loss1.0000
20:2492697:AC:Adonor_gain1.0000
20:2492698:C:CCdonor_gain1.0000
20:2492698:CC:Cdonor_gain1.0000
20:2492698:CCCA:Cdonor_gain1.0000
20:2492714:T:TAdonor_gain1.0000
20:2492826:CTAC:Cacceptor_loss1.0000
20:2493518:CCA:Cdonor_gain1.0000
20:2493573:CAAGC:Cacceptor_gain1.0000
20:2508941:T:TAdonor_gain1.0000
20:2492698:CCCAA:Cdonor_gain0.9900
20:2492826:C:CCacceptor_gain0.9900
20:2493512:AACTC:Adonor_loss0.9900
20:2493513:ACTC:Adonor_loss0.9900
20:2493513:ACTCA:Adonor_loss0.9900
20:2493514:CT:Cdonor_loss0.9900
20:2493515:TCA:Tdonor_loss0.9900
20:2493516:C:CGdonor_loss0.9900
20:2493517:A:ACdonor_gain0.9900
20:2493518:C:Adonor_loss0.9900
20:2493518:C:CAdonor_loss0.9900
20:2493518:C:CCdonor_gain0.9900
20:2493518:CCACT:Cdonor_gain0.9900
20:2493576:GCC:Gacceptor_loss0.9900
20:2493576:GCCTA:Gacceptor_loss0.9900

AlphaMissense

3951 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
20:2484043:A:CF306L0.998
20:2484043:A:TF306L0.998
20:2484045:A:GF306L0.998
20:2483455:A:CF502L0.997
20:2483455:A:TF502L0.997
20:2483457:A:GF502L0.997
20:2483623:A:CF446L0.997
20:2483623:A:TF446L0.997
20:2483625:A:GF446L0.997
20:2483707:A:CF418L0.997
20:2483707:A:TF418L0.997
20:2483709:A:GF418L0.997
20:2483287:A:CF558L0.996
20:2483287:A:TF558L0.996
20:2483289:A:GF558L0.996
20:2483371:A:CF530L0.996
20:2483371:A:TF530L0.996
20:2483373:A:GF530L0.996
20:2483539:A:CF474L0.996
20:2483539:A:TF474L0.996
20:2483541:A:GF474L0.996
20:2483203:A:CF586L0.995
20:2483203:A:TF586L0.995
20:2483205:A:GF586L0.995
20:2483791:A:CF390L0.995
20:2483791:A:TF390L0.995
20:2483793:A:GF390L0.995
20:2483690:A:GL424P0.994
20:2483875:A:CF362L0.994
20:2483875:A:TF362L0.994

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):

StudyTraitp-value
GCST003139_20Glomerular filtration rate in chronic kidney disease2.000000e-06
GCST004723_14Conotruncal 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.

VariantGenesLevelScore#Clin annotsDrugs
rs4815273ZNF34330.001hydrochlorothiazide
rs6083538ZNF3430.000

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

ChemicalActions (top 5)PubMed papers
sodium arseniteaffects methylation, decreases expression3
Arsenicaffects methylation, decreases methylation2
TAK-243increases sumoylation1
triphenyl phosphateaffects expression1
beta-lapachonedecreases expression, increases expression1
arseniteincreases methylation1
nickel sulfatedecreases expression1
2-amino-3,8-dimethylimidazo(4,5-f)quinoxalineincreases expression1
Grape Seed Proanthocyanidinsaffects cotreatment, decreases expression1
Temozolomideincreases expression1
Sunitinibdecreases expression1
Leflunomideincreases expression1
Amphotericin Bincreases expression1
Benzo(a)pyreneincreases methylation1
Catechinaffects cotreatment, decreases expression1
Ethyl Methanesulfonateincreases expression1
Formaldehydedecreases expression1
Hydrogen Peroxideaffects expression1
Methyl Methanesulfonateincreases expression1
Phthalic Acidsdecreases methylation1
Tretinoindecreases expression1
Urethanedecreases expression1
Cadmium Chloridedecreases expression1
Copper Sulfatedecreases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): conotruncal heart malformations