ZNF862

gene
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Summary

ZNF862 (zinc finger protein 862, HGNC:34519) is a protein-coding gene on chromosome 7q36.1, encoding Zinc finger protein 862 (O60290). May be involved in transcriptional regulation.

Predicted to enable protein dimerization activity and zinc ion binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleus.

Source: NCBI Gene 643641 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): hereditary gingival fibromatosis (Limited, GenCC)
  • GWAS associations: 1
  • Clinical variants (ClinVar): 240 total — 1 likely-pathogenic
  • Phenotypes (HPO): 4
  • MANE Select transcript: NM_001099220

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:34519
Approved symbolZNF862
Namezinc finger protein 862
Location7q36.1
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000106479
Ensembl biotypeprotein_coding
OMIM620974
Entrez643641

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 2 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000223210, ENST00000460379, ENST00000466435, ENST00000478024, ENST00000488265, ENST00000489820

RefSeq mRNA: 1 — MANE Select: NM_001099220 NM_001099220

CCDS: CCDS47741

Canonical transcript exons

ENST00000223210 — 8 exons

ExonStartEnd
ENSE00000729590149860383149862494
ENSE00000729593149850161149850338
ENSE00000729594149847735149848432
ENSE00001556401149838375149838635
ENSE00001892132149864109149867479
ENSE00003509964149846151149846255
ENSE00003511383149844625149844736
ENSE00003519700149859422149859526

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 92.36.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.2097 / max 114.8289, expressed in 1753 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
819109.20971753

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
diaphragmUBERON:000110392.36gold quality
type B pancreatic cellCL:000016991.21gold quality
olfactory bulbUBERON:000226491.05gold quality
right uterine tubeUBERON:000130290.94gold quality
right lobe of thyroid glandUBERON:000111988.12gold quality
granulocyteCL:000009487.77gold quality
sural nerveUBERON:001548887.55gold quality
left lobe of thyroid glandUBERON:000112087.32gold quality
thyroid glandUBERON:000204687.10gold quality
cerebellar vermisUBERON:000472087.02gold quality
tibiaUBERON:000097986.32gold quality
thymusUBERON:000237086.31gold quality
right hemisphere of cerebellumUBERON:001489086.29gold quality
body of pancreasUBERON:000115086.18gold quality
lymph nodeUBERON:000002986.16gold quality
CA1 field of hippocampusUBERON:000388186.06silver quality
cerebellar hemisphereUBERON:000224586.02gold quality
cerebellar cortexUBERON:000212985.97gold quality
metanephros cortexUBERON:001053385.81gold quality
cerebellumUBERON:000203785.75gold quality
cardia of stomachUBERON:000116285.54silver quality
right ovaryUBERON:000211885.30gold quality
left ovaryUBERON:000211985.17gold quality
middle temporal gyrusUBERON:000277185.15gold quality
gall bladderUBERON:000211085.00gold quality
corpus callosumUBERON:000233684.94gold quality
fundus of stomachUBERON:000116084.80gold quality
cardiac muscle of right atriumUBERON:000337984.76silver quality
left ventricle myocardiumUBERON:000656684.73gold quality
bloodUBERON:000017884.58gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no4.24

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

78 targeting ZNF862, 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-4533100.0069.482758
HSA-MIR-4476100.0068.182030
HSA-MIR-6876-5P100.0067.682126
HSA-MIR-29A-3P100.0073.111835
HSA-MIR-29B-3P100.0073.181833
HSA-MIR-29C-3P100.0073.151833
HSA-MIR-118499.9968.191458
HSA-MIR-3692-3P99.9870.272139
HSA-MIR-548P99.9872.253784
HSA-MIR-185-3P99.9567.011743
HSA-MIR-4778-3P99.9370.401818
HSA-MIR-515-5P99.9269.822343
HSA-MIR-454-3P99.9174.011925
HSA-MIR-130A-3P99.9073.311861
HSA-MIR-130B-3P99.9073.271850
HSA-MIR-301A-3P99.9073.151839
HSA-MIR-301B-3P99.9073.191836
HSA-MIR-366699.9073.241833
HSA-MIR-429599.9073.111838
HSA-MIR-3065-3P99.8770.251407
HSA-MIR-430699.7270.503630
HSA-MIR-453099.6966.471509
HSA-MIR-320299.6667.702737
HSA-MIR-10394-5P99.6566.831852
HSA-MIR-120599.6566.761826
HSA-MIR-3158-5P99.6567.511763
HSA-MIR-378A-5P99.6566.331311
HSA-MIR-1260A99.6166.671098
HSA-MIR-1260B99.6166.671098
HSA-MIR-6716-5P99.5668.621244

Literature-anchored findings (GeneRIF, showing 2)

  • A novel gene ZNF862 causes hereditary gingival fibromatosis. (PMID:35142290)
  • ZNF862 induces cytostasis and apoptosis via the p21-RB1 and Bcl-xL-Caspase 3 signaling pathways in human gingival fibroblasts. (PMID:38482719)

Cross-species orthologs

1 orthologs

OrganismSymbolGene ID
rattus_norvegicusENSRNOG00000091106

Paralogs (1): KRBOX5 (ENSG00000197302)

Protein

Protein identifiers

Zinc finger protein 862O60290 (reviewed: O60290)

All UniProt accessions (2): O60290, C9JB70

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

Disease relevance. Fibromatosis, gingival, 6 (GINGF6) [MIM:620999] An autosomal dominant form of hereditary gingival fibromatosis, a rare condition characterized by a slow, progressive overgrowth of the gingiva. The excess gingival tissue can cover part of or the entire crown, and can result in diastemas, teeth displacement, or retention of primary or impacted teeth. GINGF6 is characterized by gingival overgrowth beginning in the first decade of life. The disease may be caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt IDNamesCanonical?
O60290-11yes
O60290-22

RefSeq proteins (1): NP_001092690* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001909KRABDomain
IPR006580Znf_TTFDomain
IPR008906HATC_C_domDomain
IPR012337RNaseH-like_sfHomologous_superfamily
IPR036051KRAB_dom_sfHomologous_superfamily

Pfam: PF01352, PF05699

UniProt features (9 total): domain 2, zinc finger region 2, splice variant 2, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-O60290-F167.080.26

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 133 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, CAIRO_HEPATOBLASTOMA_CLASSES_DN, GOMF_PROTEIN_DIMERIZATION_ACTIVITY, KOYAMA_SEMA3B_TARGETS_DN, FIGUEROA_AML_METHYLATION_CLUSTER_6_DN, KRAS.AMP.LUNG_UP.V1_DN, KRAS.LUNG_UP.V1_DN, FOXN3_TARGET_GENES, GUCY1B1_TARGET_GENES, HOXB6_TARGET_GENES, KAT2A_TARGET_GENES, LMTK3_TARGET_GENES, MAFG_TARGET_GENES, NKX2_3_TARGET_GENES, RYBP_TARGET_GENES

GO Biological Process (2): regulation of DNA-templated transcription (GO:0006355), biological_process (GO:0008150)

GO Molecular Function (4): zinc ion binding (GO:0008270), protein dimerization activity (GO:0046983), molecular_function (GO:0003674), metal ion binding (GO:0046872)

GO Cellular Component (2): nucleus (GO:0005634), cellular_component (GO:0005575)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
DNA-templated transcription1
regulation of gene expression1
regulation of RNA biosynthetic process1
transition metal ion binding1
protein binding1
cation binding1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

834 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ZNF862ASCC1Q8N9N2523
ZNF862PGBD2Q6P3X8510
ZNF862ZBED8Q8IZ13498
ZNF862ACOT7O00154476
ZNF862MRPL45Q9BRJ2476
ZNF862PGBD1Q96JS3450
ZNF862GIN1Q9NXP7446
ZNF862C7orf33Q8WU49435
ZNF862FAM216AQ8WUB2427
ZNF862DRC11LA6NCM1419
ZNF862PGBD5Q8N414415
ZNF862A0A087WTJ2A0A087WTJ2394
ZNF862THAP9Q9H5L6390
ZNF862PRDM9Q9NQV7387
ZNF862NAIF1Q69YI7385

IntAct

6 interactions, top by confidence:

ABTypeScore
ZNF862TTC28psi-mi:“MI:0915”(physical association)0.370
ZNF862ATXN7L1psi-mi:“MI:0915”(physical association)0.370
Mpsi-mi:“MI:0914”(association)0.350
ZNF862psi-mi:“MI:0915”(physical association)0.000
ATN1ZNF862psi-mi:“MI:0915”(physical association)0.000

BioGRID (4): ZNF862 (Affinity Capture-RNA), ZNF862 (Affinity Capture-RNA), ZNF862 (Protein-peptide), CPT1A (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A3KMX0, A4IFA3, A4IGY9, A4Z943, A4Z944, B8QB46, D2EAC2, E1C2V1, O43422, O60290, P10911, P35125, P86452, Q13075, Q2NKX8, Q3UPF5, Q49AG3, Q5FWF4, Q5SVZ6, Q5T890, Q5TKR9, Q6DJS0, Q6EKJ0, Q6R2W3, Q6YI93, Q7Z2W4, Q80WE4, Q86UP8, Q86VD1, Q8BZ21, Q8N8K9, Q8QMP8, Q8TDB6, Q8WML3, Q92794, Q96JM7, Q96JS3, Q99388, Q99NI3, Q9CUX1

Diamond homologs: A6NFI3, A6NM28, A6NNF4, A6QLU5, A8MQ14, A8MUV8, B4DU55, B4DX44, E9Q8G5, O60290, O75290, O75467, O94892, O95780, P0DPD5, P17014, P17031, P17032, P17097, P17098, P21506, P51523, P59923, Q02525, Q03936, Q05481, Q06732, Q08DG8, Q14586, Q14590, Q15928, Q16587, Q2M218, Q2TL60, Q3B7M4, Q3KQV3, Q3SXZ3, Q49AA0, Q4R6C2, Q4R8H9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

240 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic1
Uncertain significance209
Likely benign18
Benign2

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
870571NM_001099220.3(ZNF862):c.2812G>A (p.Ala938Thr)Likely pathogenic

SpliceAI

1558 predictions. Top by Δscore:

VariantEffectΔscore
7:149838472:G:GTdonor_gain1.0000
7:149844726:G:GAdonor_gain1.0000
7:149846142:T:Aacceptor_gain1.0000
7:149846143:G:Aacceptor_gain1.0000
7:149846146:CTCAG:Cacceptor_loss1.0000
7:149846148:CAG:Cacceptor_loss1.0000
7:149846149:A:AGacceptor_gain1.0000
7:149846149:AG:Aacceptor_gain1.0000
7:149846150:G:GAacceptor_gain1.0000
7:149846150:GG:Gacceptor_gain1.0000
7:149846150:GGACC:Gacceptor_gain1.0000
7:149846253:CAGGT:Cdonor_loss1.0000
7:149846254:AGG:Adonor_loss1.0000
7:149846256:G:Adonor_loss1.0000
7:149846256:G:GGdonor_gain1.0000
7:149846257:T:Gdonor_loss1.0000
7:149850334:CTTGG:Cdonor_loss1.0000
7:149850335:TTGG:Tdonor_loss1.0000
7:149850336:TGGG:Tdonor_loss1.0000
7:149850338:GGTAA:Gdonor_loss1.0000
7:149850339:G:GAdonor_loss1.0000
7:149850340:T:Adonor_loss1.0000
7:149838462:G:GGdonor_gain0.9900
7:149844725:T:TAdonor_gain0.9900
7:149844736:GGTA:Gdonor_gain0.9900
7:149846150:GGA:Gacceptor_gain0.9900
7:149846150:GGAC:Gacceptor_gain0.9900
7:149846251:CCCAG:Cdonor_gain0.9900
7:149850158:CAG:Cacceptor_loss0.9900
7:149850159:A:ACacceptor_loss0.9900

AlphaMissense

7663 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
7:149860583:T:AW475R0.999
7:149860583:T:CW475R0.999
7:149860619:T:CC487R0.999
7:149860628:T:AC490S0.999
7:149860628:T:CC490R0.999
7:149860629:G:CC490S0.999
7:149860630:C:GC490W0.999
7:149860707:T:CL516S0.999
7:149860715:C:GH519D0.999
7:149860845:C:AA562D0.999
7:149860957:C:GC599W0.999
7:149860565:T:AW469R0.998
7:149860565:T:CW469R0.998
7:149860577:T:CF473L0.998
7:149860579:C:AF473L0.998
7:149860579:C:GF473L0.998
7:149860585:G:CW475C0.998
7:149860585:G:TW475C0.998
7:149860587:T:CL476S0.998
7:149860619:T:AC487S0.998
7:149860620:G:AC487Y0.998
7:149860620:G:CC487S0.998
7:149860621:C:GC487W0.998
7:149860629:G:AC490Y0.998
7:149860668:T:CL503S0.998
7:149860696:A:CK512N0.998
7:149860696:A:TK512N0.998
7:149860715:C:AH519N0.998
7:149860717:T:AH519Q0.998
7:149860717:T:GH519Q0.998

dbSNP variants (sampled 300 via entrez): RS1000232646 (7:149855991 A>C), RS1000487506 (7:149849724 G>A,C), RS1000558298 (7:149844960 T>C), RS1000582694 (7:149851075 G>C), RS1000682365 (7:149838771 C>G,T), RS1000796494 (7:149860008 C>T), RS1000847353 (7:149865833 C>A,T), RS1000862184 (7:149861276 G>A), RS1000962512 (7:149856966 C>G), RS1001039730 (7:149851418 G>A,T), RS1001057591 (7:149856753 G>A,T), RS1001299515 (7:149855797 T>C), RS1001564748 (7:149837307 G>A), RS1001585799 (7:149864508 A>G), RS1001699132 (7:149866730 C>G)

Disease associations

OMIM: gene MIM:620974 | disease phenotypes: MIM:620999

GenCC curated gene-disease

DiseaseClassificationInheritance
hereditary gingival fibromatosisLimitedAutosomal dominant

Mondo (3): long QT syndrome (MONDO:0002442), fibromatosis, gingival, 6 (MONDO:0975841), hereditary gingival fibromatosis (MONDO:0016070)

Orphanet (0):

HPO phenotypes

4 total (4 of 4 shown, HPO-id order):

HPOTerm
HP:0000006Autosomal dominant inheritance
HP:0000169Gingival fibromatosis
HP:0003621Juvenile onset
HP:0011463Childhood onset

GWAS associations

1 associations (top):

StudyTraitp-value
GCST012048_10Triglyceride levels2.000000e-07

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004530triglyceride measurement

MeSH disease descriptors (1)

DescriptorNameTree numbers
D008133Long QT SyndromeC14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

ChemicalActions (top 5)PubMed papers
entinostatdecreases expression, affects cotreatment2
Valproic Aciddecreases expression2
aristolochic acid Iincreases expression1
afuresertibincreases expression1
butyraldehydedecreases expression1
benzo(e)pyrenedecreases methylation1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
dorsomorphinaffects cotreatment, decreases expression1
(+)-JQ1 compoundincreases expression1
Benzo(a)pyreneincreases methylation1
Estradioldecreases expression1
Ethyl Methanesulfonateincreases expression1
Methapyrilenedecreases methylation1
Methyl Methanesulfonateincreases expression1
Niclosamideincreases expression1
Silicon Dioxidedecreases expression1
Tretinoinincreases expression1
Aflatoxin B1increases methylation1
Cadmium Chloridedecreases expression1
Okadaic Aciddecreases expression1
Copper Sulfatedecreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT02513940PHASE4COMPLETEDInfluence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes
NCT03834883PHASE4COMPLETEDReducing the Risk of Drug-Induced QT Interval Lengthening in Women
NCT04169100PHASE4UNKNOWNNovel Form of Acquired Long QT Syndrome
NCT04675788PHASE4COMPLETEDNovel Approaches for Minimizing Drug-Induced QT Interval Lengthening
NCT01648205PHASE2COMPLETEDLong-term Efficacy Study of Sodium Channel Blocker in LQT3 Patients
NCT02412709PHASE2UNKNOWNLong QT Syndrome Screening in Newborns
NCT04581408PHASE2COMPLETEDMutation-specific Therapy for the Long QT Syndrome
NCT00316459PHASE1COMPLETEDStudy Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects
NCT01849003PHASE1COMPLETEDStudy of the Effect of GS-6615 in Subjects With LQT-3
NCT02365532PHASE1COMPLETEDEffect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Adults
NCT02412098PHASE1COMPLETEDPharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function
NCT02441829PHASE1COMPLETEDPharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function
NCT05759962PHASE1COMPLETEDPhase 1 Study of LQT-1213 in Healthy Adults
NCT05906732PHASE1/PHASE2TERMINATEDStudy of LQT-1213 on QTc-induced Prolongation in Healthy Adult Subjects (Part1) and on Congenital Long QT in Patients Diagnosed With Type 2 or 3 Long QT Syndrome (Part 2).
NCT00005176Not specifiedCOMPLETEDLong QT Syndrome-Population Genetics and Cardiac Studies
NCT00005250Not specifiedCOMPLETEDLinkage Study of Long QT Syndrome In An Amish Kindred
NCT00005367Not specifiedCOMPLETEDEpidemiology of Long QTand Asian Sudden Death in Sleep
NCT00221832Not specifiedUNKNOWNMolecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases
NCT00292032Not specifiedCOMPLETEDRegistry of Unexplained Cardiac Arrest
NCT00335036Not specifiedTERMINATEDPediatric Lead Extractability and Survival Evaluation (PLEASE)
NCT00399412Not specifiedCOMPLETEDECG Signal Collection From Long QT Syndrome, Wide QRS Complexes, Heart Failure, and Cardiac Resynchronization Patients
NCT00488254Not specifiedCOMPLETEDThe Long QT Syndrome in Pregnancy
NCT00588965Not specifiedCOMPLETEDEffect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects
NCT01705925Not specifiedCOMPLETEDMulticenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome
NCT01903564Not specifiedCOMPLETEDFetal and Neonatal Magnetophysiology
NCT02082431Not specifiedCOMPLETEDDetermine the Incidence of Long QT Amongst a Large Cohort of Subjects Diagnosed With Unilateral or Bilateral Sensorineural Hearing Loss.
NCT02413450Not specifiedENROLLING_BY_INVITATIONDerivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias
NCT02425189Not specifiedCOMPLETEDThe Canadian National Long QT Syndrome Registry
NCT02439645Not specifiedTERMINATEDA Registry to Determine the Clinical and Genetic Risk Factors for Torsade De Pointes
NCT02439658Not specifiedUNKNOWNGenetics of QT Prolongation With Antiarrhythmics
NCT02549664Not specifiedCOMPLETEDExercise in Genetic Cardiovascular Conditions
NCT02581241Not specifiedCOMPLETEDAbnormal QT-Response to the Sudden Tachycardia Provoked by Standing in Individuals With Drug-induced Long QT Syndrome
NCT02680080Not specifiedCOMPLETEDEffect of Grapefruit on QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome
NCT02775513Not specifiedUNKNOWNMetabolism of Patients With Genetically Caused Cardiac Arrhythmia
NCT02814981Not specifiedUNKNOWNHydroxyzine and Risk of Prolongation of QT Interval
NCT02876380Not specifiedCOMPLETEDProspective Identification of Long QT Syndrome in Fetal Life
NCT03182777Not specifiedCOMPLETEDSafety of Local Dental Anesthesia in Patients With Cardiac Channelopathies
NCT03544918Not specifiedCOMPLETEDPrevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort
NCT03642405Not specifiedUNKNOWNDrug-induced Repolarization ECG Changes
NCT03678311Not specifiedCOMPLETEDLong QT Syndrome and Sleep Apnea