ZNF618

gene
On this page

Also known as KIAA1952NEDD10

Summary

ZNF618 (zinc finger protein 618, HGNC:29416) is a protein-coding gene on chromosome 9q32, encoding Zinc finger protein 618 (Q5T7W0). Regulates UHRF2 function as a specific 5-hydroxymethylcytosine (5hmC) reader by regulating its chromatin localization.

Enables identical protein binding activity and transcription coregulator binding activity. Predicted to be involved in regulation of DNA-templated transcription. Located in pericentric heterochromatin.

Source: NCBI Gene 114991 — RefSeq curated summary.

At a glance

  • GWAS associations: 13
  • Clinical variants (ClinVar): 147 total
  • Druggable target: yes
  • MANE Select transcript: NM_001318042

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:29416
Approved symbolZNF618
Namezinc finger protein 618
Location9q32
Locus typegene with protein product
StatusApproved
AliasesKIAA1952, NEDD10
Ensembl geneENSG00000157657
Ensembl biotypeprotein_coding
OMIM617077
Entrez114991

Gene structure

Transcript identifiers

Ensembl transcripts: 56 — 54 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000288466, ENST00000374124, ENST00000374126, ENST00000452710, ENST00000470105, ENST00000481558, ENST00000615615, ENST00000901577, ENST00000901578, ENST00000901579, ENST00000901580, ENST00000901581, ENST00000901582, ENST00000901583, ENST00000901584, ENST00000901585, ENST00000901586, ENST00000901587, ENST00000901588, ENST00000901589, ENST00000901590, ENST00000901591, ENST00000901592, ENST00000901593, ENST00000901594, ENST00000901595, ENST00000901596, ENST00000901597, ENST00000901598, ENST00000901599, ENST00000901600, ENST00000901601, ENST00000901602, ENST00000901603, ENST00000901604, ENST00000928181, ENST00000928182, ENST00000928183, ENST00000968394, ENST00000968395, ENST00000968396, ENST00000968397, ENST00000968398, ENST00000968399, ENST00000968400, ENST00000968401, ENST00000968402, ENST00000968403, ENST00000968404, ENST00000968405, ENST00000968406, ENST00000968407, ENST00000968408, ENST00000968409, ENST00000968410, ENST00000968411

RefSeq mRNA: 4 — MANE Select: NM_001318042 NM_001318040, NM_001318041, NM_001318042, NM_133374

CCDS: CCDS48008, CCDS83402, CCDS83403

Canonical transcript exons

ENST00000374126 — 15 exons

ExonStartEnd
ENSE00001462548113998259113998354
ENSE00003480968114016695114016784
ENSE00003492055114008477114008554
ENSE00003498174113969117113969160
ENSE00003507523114001996114002073
ENSE00003524811114048651114056593
ENSE00003529036114047893114047994
ENSE00003585125114036300114036377
ENSE00003590647114032645114032728
ENSE00003590843114008344114008379
ENSE00003626366113988321113988580
ENSE00003636331114007350114007439
ENSE00003654547114002624114002662
ENSE00003661030114028733114028972
ENSE00003932222113876309113876413

Expression profiles

Bgee: expression breadth ubiquitous, 222 present calls, max score 97.13.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.9045 / max 96.6072, expressed in 1538 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
981314.54021464
981321.3643847

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
secondary oocyteCL:000065597.13gold quality
pancreatic ductal cellCL:000207996.83gold quality
oocyteCL:000002395.56gold quality
kidney epitheliumUBERON:000481995.16gold quality
epithelial cell of pancreasCL:000008393.28silver quality
buccal mucosa cellCL:000233692.71gold quality
renal medullaUBERON:000036290.38gold quality
cardiac muscle of right atriumUBERON:000337989.61gold quality
left ventricle myocardiumUBERON:000656689.20gold quality
sural nerveUBERON:001548887.90gold quality
caput epididymisUBERON:000435886.23gold quality
cauda epididymisUBERON:000436085.67gold quality
stromal cell of endometriumCL:000225584.93gold quality
ventricular zoneUBERON:000305382.68gold quality
germinal epithelium of ovaryUBERON:000130482.64gold quality
corpus epididymisUBERON:000435981.84gold quality
metanephrosUBERON:000008181.65gold quality
pylorusUBERON:000116681.46gold quality
cortex of kidneyUBERON:000122580.94gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047380.88gold quality
kidneyUBERON:000211380.78gold quality
tibiaUBERON:000097980.44gold quality
tendon of biceps brachiiUBERON:000818880.03silver quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099178.65gold quality
pigmented layer of retinaUBERON:000178278.61gold quality
retinaUBERON:000096678.59gold quality
endometriumUBERON:000129578.42gold quality
ovaryUBERON:000099278.16gold quality
adult mammalian kidneyUBERON:000008278.02gold quality
epithelium of mammary glandUBERON:000324478.02gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes4.19

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

192 targeting ZNF618, 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-6867-5P100.0082.213464
HSA-MIR-3689D100.0066.141181
HSA-MIR-6851-5P100.0065.631294
HSA-MIR-4747-5P100.0067.902681
HSA-MIR-5196-5P100.0067.982761
HSA-MIR-4510100.0066.602050
HSA-MIR-6127100.0066.762188
HSA-MIR-6129100.0066.462080
HSA-MIR-6130100.0066.692012
HSA-MIR-6133100.0066.482064
HSA-MIR-453199.9969.703181
HSA-MIR-4789-3P99.9970.752484
HSA-MIR-10401-5P99.9965.79948
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-806899.9873.852376
HSA-MIR-512-3P99.9767.351049
HSA-MIR-548AN99.9770.912817
HSA-MIR-365899.9673.874379
HSA-MIR-570-3P99.9672.414910
HSA-MIR-548AA99.9670.643753
HSA-MIR-548AP-3P99.9670.643753
HSA-MIR-548T-3P99.9670.643753
HSA-MIR-211099.9666.681930
HSA-MIR-6825-5P99.9669.813431
HSA-LET-7C-3P99.9573.422862
HSA-MIR-101-3P99.9475.032230
HSA-MIR-141-3P99.9472.792421
HSA-MIR-200A-3P99.9472.682420
HSA-MIR-1236-3P99.9468.041695
HSA-MIR-4753-3P99.9071.033786

Literature-anchored findings (GeneRIF, showing 1)

  • study suggests that ZNF618 is a key protein that regulates UHRF2 function as a specific 5hmC reader in vivo. (PMID:27129234)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_rerioznf618ENSDARG00000071469
mus_musculusZfp618ENSMUSG00000028358
rattus_norvegicusZfp618ENSRNOG00000062890
drosophila_melanogasterOpbpFBGN0050443

Paralogs (2): FIZ1 (ENSG00000179943), ZBTB44 (ENSG00000196323)

Protein

Protein identifiers

Zinc finger protein 618Q5T7W0 (reviewed: Q5T7W0)

All UniProt accessions (3): B1ALC2, B5MDS3, Q5T7W0

UniProt curated annotations — full annotation on UniProt →

Function. Regulates UHRF2 function as a specific 5-hydroxymethylcytosine (5hmC) reader by regulating its chromatin localization.

Subunit / interactions. Interacts with UHRF2.

Subcellular location. Nucleus. Chromosome.

Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.

Isoforms (4)

UniProt IDNamesCanonical?
Q5T7W0-11yes
Q5T7W0-22
Q5T7W0-33
Q5T7W0-44

RefSeq proteins (4): NP_001304969, NP_001304970, NP_001304971, NP_588615 (=MANE)

Domains & families (InterPro)

IDNameType
IPR012337RNaseH-like_sfHomologous_superfamily
IPR013087Znf_C2H2_typeDomain
IPR036236Znf_C2H2_sfHomologous_superfamily

UniProt features (26 total): splice variant 6, zinc finger region 4, compositionally biased region 4, cross-link 4, region of interest 4, sequence conflict 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q5T7W0-F165.150.20

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 (5): 1, 63, 81, 239, 437

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 86 (showing top): HORIUCHI_WTAP_TARGETS_DN, KOYAMA_SEMA3B_TARGETS_UP, LIAO_METASTASIS, DODD_NASOPHARYNGEAL_CARCINOMA_UP, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, GOCC_CHROMOSOMAL_REGION, GOCC_PERICENTRIC_HETEROCHROMATIN, GOCC_HETEROCHROMATIN, GOMF_TRANSCRIPTION_COREGULATOR_BINDING, GOMF_TRANSCRIPTION_FACTOR_BINDING, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN, DURAND_STROMA_S_UP, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, MIR6867_5P, MIR3658

GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), chromatin organization (GO:0006325)

GO Molecular Function (7): transcription coregulator binding (GO:0001221), DNA binding (GO:0003677), zinc ion binding (GO:0008270), identical protein binding (GO:0042802), chromatin-protein adaptor activity (GO:0140463), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), pericentric heterochromatin (GO:0005721), chromosome (GO:0005694)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
regulation of DNA-templated transcription1
transcription by RNA polymerase II1
cellular component organization1
transcription factor binding1
nucleic acid binding1
transition metal ion binding1
protein binding1
chromatin binding1
chromatin organization1
protein-macromolecule adaptor activity1
binding1
cation binding1
chromosome1
cellular anatomical structure1
intracellular membrane-bounded organelle1
chromosome, centromeric region1
heterochromatin1
intracellular membraneless organelle1

Protein interactions and networks

STRING

622 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ZNF618SLC12A6Q9UHW9564
ZNF618NUTM1Q86Y26528
ZNF618CHD2O14647521
ZNF618CLVS1Q8IUQ0512
ZNF618N4BP2L1Q5TBK1509
ZNF618BRD9Q9H8M2506
ZNF618TMEM92Q6UXU6491
ZNF618NSD3Q9BZ95480
ZNF618ACIN1Q9UKV3479
ZNF618BRD3Q15059471
ZNF618MBTD1Q05BQ5431
ZNF618SLITRK6Q9H5Y7429
ZNF618PHF14O94880428
ZNF618TRIM28Q13263414
ZNF618ZNF688P0C7X2408

IntAct

56 interactions, top by confidence:

ABTypeScore
CSNK1A1FAM83Gpsi-mi:“MI:0914”(association)0.900
CSNK1EPER2psi-mi:“MI:0914”(association)0.850
CSNK1DPER2psi-mi:“MI:0914”(association)0.810
CSNK1DZNF618psi-mi:“MI:0915”(physical association)0.670
CSNK1EZNF618psi-mi:“MI:0915”(physical association)0.670
ZNF576ZBED1psi-mi:“MI:0914”(association)0.640
ZNF618psi-mi:“MI:0915”(physical association)0.560
MID1ZNF618psi-mi:“MI:0915”(physical association)0.560
ZNF618TBC1D13psi-mi:“MI:0915”(physical association)0.560
ZNF618ZNF618psi-mi:“MI:0915”(physical association)0.560
ZNF618DPPA3psi-mi:“MI:0915”(physical association)0.560
ZNF618NTAQ1psi-mi:“MI:0915”(physical association)0.560
ZNF618UBL5psi-mi:“MI:0915”(physical association)0.560
ZNF618UBE2Ipsi-mi:“MI:0915”(physical association)0.560
ZNF618G3BP2psi-mi:“MI:0915”(physical association)0.560
CSNK1EPOTEFpsi-mi:“MI:0914”(association)0.530
PCNAZNF618psi-mi:“MI:0915”(physical association)0.370
Ppsi-mi:“MI:0914”(association)0.350
ODF2ELAPOR2psi-mi:“MI:0914”(association)0.350
PER2CIBAR1psi-mi:“MI:0914”(association)0.350
RNF4KPNA3psi-mi:“MI:0914”(association)0.350
FAM110DNDUFA2psi-mi:“MI:0914”(association)0.350
NUBP1YBEYpsi-mi:“MI:0914”(association)0.350
SNX24GAPVD1psi-mi:“MI:0914”(association)0.350
ZNF618psi-mi:“MI:0915”(physical association)0.000
CSNK1DZNF618psi-mi:“MI:0915”(physical association)0.000
MID1ZNF618psi-mi:“MI:0915”(physical association)0.000

BioGRID (51): ZNF618 (Affinity Capture-RNA), ZNF618 (Affinity Capture-RNA), ZNF618 (Affinity Capture-MS), UHRF2 (Affinity Capture-MS), GAPVD1 (Affinity Capture-MS), RPL11 (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), ZNF618 (Affinity Capture-MS), UHRF2 (Affinity Capture-Western), ZNF618 (Affinity Capture-Western), UHRF2 (Reconstituted Complex), ZNF618 (Reconstituted Complex), UHRF2 (Co-localization), ZNF618 (Affinity Capture-MS), ZNF618 (Affinity Capture-MS)

ESM2 similar proteins: A0A1D5NVS8, A1L2U9, A2A891, A4IGQ8, A5PKF5, B1WAZ8, B5XCB8, E1BKK0, F1LMN3, O94972, P23804, P56950, P86174, Q0IH98, Q12766, Q14B70, Q58FA4, Q5NVM3, Q5RET9, Q5T7W0, Q5ZHN5, Q69ZF8, Q6A098, Q6IQ49, Q6IR68, Q6PCX9, Q6TGZ4, Q6YND2, Q6ZU67, Q7YRZ8, Q7Z7J5, Q7ZVU1, Q80YY7, Q8C0R0, Q8C4P0, Q8CII0, Q8K0L9, Q8N680, Q8N8K9, Q93073

Diamond homologs: Q5T7W0, Q80YY7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance122
Likely benign2
Benign1

Top pathogenic / likely-pathogenic (0)

SpliceAI

3672 predictions. Top by Δscore:

VariantEffectΔscore
9:113876412:AGGTA:Adonor_loss1.0000
9:113876413:GGTAC:Gdonor_loss1.0000
9:113876414:GTACG:Gdonor_loss1.0000
9:113988317:CCAG:Cacceptor_loss1.0000
9:113988318:CAGG:Cacceptor_loss1.0000
9:113988318:CAGGG:Cacceptor_gain1.0000
9:113988319:A:AGacceptor_gain1.0000
9:113988319:AG:Aacceptor_gain1.0000
9:113988319:AGG:Aacceptor_gain1.0000
9:113988319:AGGGA:Aacceptor_gain1.0000
9:113988320:G:Aacceptor_gain1.0000
9:113988320:G:GAacceptor_gain1.0000
9:113988320:GGG:Gacceptor_gain1.0000
9:113988320:GGGA:Gacceptor_gain1.0000
9:113988320:GGGAG:Gacceptor_gain1.0000
9:113988576:CCTTG:Cdonor_gain1.0000
9:113988577:CTTG:Cdonor_gain1.0000
9:113988578:TTG:Tdonor_gain1.0000
9:113988579:TG:Tdonor_gain1.0000
9:113988580:GG:Gdonor_gain1.0000
9:113988581:G:GAdonor_loss1.0000
9:113988581:G:GGdonor_gain1.0000
9:113988582:TGAG:Tdonor_loss1.0000
9:113988583:GAGT:Gdonor_loss1.0000
9:114001991:TCCA:Tacceptor_loss1.0000
9:114001993:CAG:Cacceptor_loss1.0000
9:114001994:A:AGacceptor_gain1.0000
9:114001994:AG:Aacceptor_gain1.0000
9:114001994:AGG:Aacceptor_gain1.0000
9:114001995:G:GAacceptor_gain1.0000

AlphaMissense

6274 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
9:113988541:T:CC100R1.000
9:113988542:G:AC100Y1.000
9:113988543:C:GC100W1.000
9:114002007:T:AC149S1.000
9:114002007:T:CC149R1.000
9:114002008:G:AC149Y1.000
9:114002008:G:CC149S1.000
9:114002009:C:GC149W1.000
9:114002016:T:AC152S1.000
9:114002016:T:CC152R1.000
9:114002017:G:AC152Y1.000
9:114002017:G:CC152S1.000
9:114002017:G:TC152F1.000
9:114002018:T:GC152W1.000
9:114002028:T:CY156H1.000
9:114002028:T:GY156D1.000
9:114002029:A:GY156C1.000
9:114002043:T:CC161R1.000
9:114002044:G:AC161Y1.000
9:114002045:C:GC161W1.000
9:114002046:T:CF162L1.000
9:114002047:T:CF162S1.000
9:114002048:C:AF162L1.000
9:114002048:C:GF162L1.000
9:114002055:C:AH165N1.000
9:114002055:C:GH165D1.000
9:114002055:C:TH165Y1.000
9:114002056:A:GH165R1.000
9:114002057:C:AH165Q1.000
9:114002057:C:GH165Q1.000

dbSNP variants (sampled 300 via entrez): RS1000001308 (9:114053722 C>T), RS1000013461 (9:113992290 G>A), RS1000015881 (9:113970507 C>T), RS1000041080 (9:114030918 C>G), RS1000046537 (9:113906209 C>G), RS1000053152 (9:113922802 A>G), RS1000068322 (9:113881863 T>C), RS1000075804 (9:113905948 C>A,T), RS1000122069 (9:113987249 T>A), RS1000128523 (9:113948742 T>C,G), RS1000141398 (9:114025828 A>C), RS1000150119 (9:113966304 A>G), RS1000180986 (9:114054321 A>C,G), RS1000187357 (9:113888241 C>A), RS1000200267 (9:113931639 G>A)

Disease associations

OMIM: gene MIM:617077 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

13 associations (top):

StudyTraitp-value
GCST003560_4Coronary artery aneurysm in Kawasaki disease2.000000e-07
GCST005648_6Serum metabolite concentrations in chronic kidney disease2.000000e-08
GCST006629_71Pulse pressure9.000000e-17
GCST006987_2Neutrophil level response to clozapine in treatment-resistant schizophrenia9.000000e-09
GCST007204_4Low density lipoprotein cholesterol levels9.000000e-06
GCST007267_125Systolic blood pressure2.000000e-10
GCST007269_107Pulse pressure5.000000e-16
GCST007324_117Adventurousness2.000000e-08
GCST007325_242General risk tolerance (MTAG)2.000000e-09
GCST007576_231Chronotype7.000000e-09
GCST008529_30Tea consumption4.000000e-06
GCST012170_12Cognitive function in longevity8.000000e-06
GCST012490_268Femur bone mineral density x serum urate levels interaction2.000000e-08

EFO canonical traits (9, from GWAS)

EFO IDTrait name
EFO:0005763pulse pressure measurement
EFO:0004833neutrophil count
EFO:0004611low density lipoprotein cholesterol measurement
EFO:0006335systolic blood pressure
EFO:0008579risk-taking behaviour
EFO:0008328chronotype measurement
EFO:0010091tea consumption measurement
EFO:0008354cognitive function measurement
EFO:0004531urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725046 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

43 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, decreases expression, affects expression8
Benzo(a)pyreneaffects methylation, decreases expression3
bisphenol Adecreases methylation, increases expression, affects cotreatment2
sodium arsenitedecreases expression, increases expression2
(+)-JQ1 compounddecreases expression2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxidedecreases expression2
Cyclosporinedecreases expression, increases methylation2
aristolochic acid Idecreases expression1
FR900359increases phosphorylation1
triphenyl phosphateaffects expression1
propionaldehydedecreases expression1
beta-lapachonedecreases expression1
mono-(2-ethylhexyl)phthalatedecreases methylation, increases abundance1
butyraldehydedecreases expression1
tobacco tardecreases expression1
S-(1,2-dichlorovinyl)cysteineaffects response to substance, increases expression, affects cotreatment, decreases expression1
beta-methylcholineaffects expression1
avobenzoneincreases expression1
di-n-butylphosphoric acidaffects expression1
CGP 52608affects binding, increases reaction1
2-palmitoylglycerolincreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamidedecreases expression, affects cotreatment1
abrinedecreases expression1
dorsomorphinaffects cotreatment, decreases expression1
NSC 689534affects binding, decreases expression1
Fulvestrantaffects cotreatment, decreases methylation1
Vorinostatdecreases expression1
Acetaminophendecreases expression1
Air Pollutantsdecreases expression, increases abundance1
Cisplatinincreases expression1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL5697554BindingInhibition of ZNF618 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysisInhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature

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): coronary aneurysm