ZNF718

Summary

ZNF718 (zinc finger protein 718, HGNC:26889) is a protein-coding gene on chromosome 4p16.3, encoding Zinc finger protein 718 (Q3SXZ3). May be involved in transcriptional regulation.

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleus.

Source: NCBI Gene 255403 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 11 total
• MANE Select transcript: NM_001039127

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26889
Approved symbol	ZNF718
Name	zinc finger protein 718
Location	4p16.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ90036
Ensembl gene	ENSG00000250312
Ensembl biotype	protein_coding
Entrez	255403

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 nonsense_mediated_decay

ENST00000510175, ENST00000609714, ENST00000642529

RefSeq mRNA: 3 — MANE Select: NM_001039127 NM_001039127, NM_001289930, NM_001289931

CCDS: CCDS75078, CCDS75079

Canonical transcript exons

ENST00000510175 — 4 exons

Exon	Start	End
ENSE00002048735	160912	164162
ENSE00003706005	131410	131505
ENSE00003737405	130788	130914
ENSE00003828427	124501	124673

Expression profiles

Bgee: expression breadth ubiquitous, 184 present calls, max score 82.96.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.4272 / max 208.2075, expressed in 1734 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
46481	13.4101	1730
46480	0.7492	440
203083	0.2679	125

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.96	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.92	gold quality
adrenal tissue	UBERON:0018303	76.84	gold quality
islet of Langerhans	UBERON:0000006	76.42	gold quality
granulocyte	CL:0000094	76.17	gold quality
ventricular zone	UBERON:0003053	76.08	gold quality
cortical plate	UBERON:0005343	75.82	gold quality
ganglionic eminence	UBERON:0004023	75.49	gold quality
secondary oocyte	CL:0000655	75.32	gold quality
calcaneal tendon	UBERON:0003701	74.41	gold quality
stromal cell of endometrium	CL:0002255	74.34	gold quality
left ovary	UBERON:0002119	73.49	gold quality
right ovary	UBERON:0002118	73.41	gold quality
leukocyte	CL:0000738	73.30	gold quality
bone marrow cell	CL:0002092	73.20	silver quality
monocyte	CL:0000576	73.01	gold quality
ovary	UBERON:0000992	72.36	gold quality
sural nerve	UBERON:0015488	72.07	gold quality
smooth muscle tissue	UBERON:0001135	71.70	gold quality
vermiform appendix	UBERON:0001154	71.54	gold quality
lymph node	UBERON:0000029	71.53	gold quality
body of uterus	UBERON:0009853	71.53	gold quality
pancreas	UBERON:0001264	71.37	gold quality
right atrium auricular region	UBERON:0006631	71.27	gold quality
left uterine tube	UBERON:0001303	71.19	gold quality
popliteal artery	UBERON:0002250	71.16	gold quality
endocervix	UBERON:0000458	71.15	gold quality
tibial artery	UBERON:0007610	71.14	gold quality
oviduct epithelium	UBERON:0004804	71.11	silver quality
esophagogastric junction muscularis propria	UBERON:0035841	71.00	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-GEOD-124858	no	51.73
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

109 targeting ZNF718, 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-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-590-3P	99.96	74.34	6478
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-6809-3P	99.91	71.45	3814

Cross-species orthologs

0 orthologs

Paralogs (176): ZNF195 (ENSG00000005801), ZNF112 (ENSG00000062370), ZNF275 (ENSG00000063587), ZNF37A (ENSG00000075407), ZNF510 (ENSG00000081386), ZNF506 (ENSG00000081665), ZNF268 (ENSG00000090612), MZF1 (ENSG00000099326), ZNF629 (ENSG00000102870), ZNF175 (ENSG00000105497), ZNF85 (ENSG00000105750), ZFP30 (ENSG00000120784), ZNF45 (ENSG00000124459), ZNF391 (ENSG00000124613), ZNF436 (ENSG00000125945), ZNF484 (ENSG00000127081), ZNF835 (ENSG00000127903), ZNF780B (ENSG00000128000), ZSCAN10 (ENSG00000130182), ZNF317 (ENSG00000130803), ZNF331 (ENSG00000130844), ZNF227 (ENSG00000131115), ZNF141 (ENSG00000131127), ZNF132 (ENSG00000131849), ZNF189 (ENSG00000136870), ZIM3 (ENSG00000141946), ZFP14 (ENSG00000142065), ZNF514 (ENSG00000144026), ZNF300 (ENSG00000145908), RBAK (ENSG00000146587), ZNF157 (ENSG00000147117), ZNF182 (ENSG00000147118), ZNF41 (ENSG00000147124), ZNF7 (ENSG00000147789), ZNF117 (ENSG00000152926), ZNF221 (ENSG00000159905), ZNF235 (ENSG00000159917), ZNF714 (ENSG00000160352), ZNF577 (ENSG00000161551), ZNF12 (ENSG00000164631)

Protein

Protein identifiers

Zinc finger protein 718 — Q3SXZ3 (reviewed: Q3SXZ3)

All UniProt accessions (2): A0A2R8Y4V3, Q3SXZ3

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

Isoforms (2)

UniProt ID	Names	Canonical?
Q3SXZ3-1	1	yes
Q3SXZ3-2	2

RefSeq proteins (3): NP_001034216, NP_001276859, NP_001276860 (=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

Pfam: PF00096, PF01352

UniProt features (20 total): zinc finger region 11, sequence variant 4, sequence conflict 2, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3SXZ3-F1	70.97	0.25

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 51 (showing top): chr4p16, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, JOHNSTONE_PARVB_TARGETS_3_DN, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, ZHOU_INFLAMMATORY_RESPONSE_FIMA_DN, STK33_SKM_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, ASH1L_TARGET_GENES, CEBPZ_TARGET_GENES, HSD17B8_TARGET_GENES, MYF6_TARGET_GENES, PRKDC_TARGET_GENES, ZNF350_TARGET_GENES

GO Biological Process (2): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (5): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), DNA binding (GO:0003677), 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
regulation of transcription by RNA polymerase II	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
transition metal ion binding	1
nucleic acid binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

88 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF718	FAM181A	Q8N9Y4	479
ZNF718	HOXA4	Q00056	435
ZNF718	MRI1	Q9BV20	338
ZNF718	ZFP57	Q9NU63	169
ZNF718	MVK	Q03426	64
ZNF718	NME8	Q8N427	62
ZNF718	MED14	O60244	57
ZNF718	JUN	P05412	57
ZNF718	SUV39H2	Q9H5I1	52
ZNF718	KIF14	Q15058	50
ZNF718	TRIM28	Q13263	49
ZNF718	TRIM24	O15164	49
ZNF718	TRIM39	Q9HCM9	48
ZNF718	LRGUK	Q96M69	47
ZNF718	RBBP4	P31149	47

IntAct

6 interactions, top by confidence:

A	B	Type	Score
ZNF718	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
ECE1	ZNF718	psi-mi:“MI:0915”(physical association)	0.370
ZNF718	TRIM24	psi-mi:“MI:0914”(association)	0.350
ZNF718	ZNF195	psi-mi:“MI:0914”(association)	0.350

BioGRID (16): ZNF718 (Affinity Capture-RNA), HIST1H2BH (Proximity Label-MS), ZNF718 (Affinity Capture-MS), TRIM39 (Affinity Capture-MS), LSS (Affinity Capture-MS), TRIM24 (Affinity Capture-MS), OGDHL (Affinity Capture-MS), TRIM28 (Affinity Capture-MS), SAV1 (Affinity Capture-MS), ZNF195 (Affinity Capture-MS), CBX5 (Affinity Capture-MS), STK3 (Affinity Capture-MS), ZNF718 (Affinity Capture-MS), ZNF718 (Affinity Capture-MS), ZNF718 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A1W2PQL4, A0JPL0, A2RRD8, A6NHJ4, A6NP11, B4DX44, O75346, O95780, P0CB33, P21506, P51508, P52738, Q0D2J5, Q0VGE8, Q12901, Q13360, Q14593, Q15973, Q2M218, Q2M3X9, Q2VY69, Q3SXZ3, Q5HY98, Q5RCJ2, Q5VIY5, Q6J6I6, Q7L2R6, Q86XU0, Q86Y25, Q8IW36, Q8IYN0, Q8IYX0, Q8N782, Q8N883, Q8N9Z0, Q8NDP4, Q95K49, Q969W8, Q96H40, Q96N58

Diamond homologs: A0A1W2PQL4, A6NK75, A6NN14, A6NNF4, A6NP11, A8MQ14, A8MTY0, A8MUV8, A8MXY4, B4DX44, B4DXR9, E9PYI1, O14628, O43345, O75290, O75346, O75373, O75437, O95780, P0CB33, P0DKX0, P0DPD5, P16373, P17019, P17038, P21506, P35789, P52736, P52738, P52744, Q03923, Q03924, Q03936, Q03938, Q05481, Q14586, Q14593, Q14929, Q15928, Q3KNS6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	1
Likely benign	2
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

328 predictions. Top by Δscore:

Variant	Effect	Δscore
4:124672:TGGT:T	donor_loss	0.9800
4:124674:G:GA	donor_loss	0.9800
4:124675:T:A	donor_loss	0.9800
4:124676:G:GG	donor_loss	0.9800
4:160911:GCT:G	acceptor_gain	0.9800
4:124677:A:AT	donor_loss	0.9700
4:160910:A:AG	acceptor_gain	0.9700
4:160911:G:GG	acceptor_gain	0.9700
4:160911:GCTGT:G	acceptor_gain	0.9700
4:124674:G:GG	donor_gain	0.9600
4:124678:G:C	donor_loss	0.9300
4:160178:A:AG	donor_gain	0.9300
4:160195:GAA:G	donor_gain	0.9100
4:160911:GC:G	acceptor_gain	0.9100
4:160906:TTTCA:T	acceptor_loss	0.9000
4:160907:TTCAG:T	acceptor_loss	0.9000
4:160908:TCAGC:T	acceptor_loss	0.9000
4:160909:CAG:C	acceptor_loss	0.9000
4:124672:TG:T	donor_gain	0.8800
4:124673:GG:G	donor_gain	0.8800
4:160901:A:AG	acceptor_loss	0.8800
4:160910:AGCT:A	acceptor_gain	0.8600
4:160911:GCTG:G	acceptor_gain	0.8600
4:125292:GTTCT:G	donor_gain	0.8500
4:155744:T:G	donor_gain	0.8400
4:160197:A:AG	donor_gain	0.8200
4:160198:G:GG	donor_gain	0.8200
4:125056:G:GT	donor_gain	0.8100
4:125070:A:T	donor_gain	0.8100
4:160195:G:GT	donor_gain	0.8100

AlphaMissense

3179 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:161811:T:C	F376L	0.994
4:161813:T:A	F376L	0.994
4:161813:T:G	F376L	0.994
4:161727:T:C	F348L	0.992
4:161729:T:A	F348L	0.992
4:161729:T:G	F348L	0.992
4:161391:T:C	F236L	0.989
4:161393:T:A	F236L	0.989
4:161393:T:G	F236L	0.989
4:161475:T:C	F264L	0.987
4:161477:T:A	F264L	0.987
4:161477:T:G	F264L	0.987
4:161895:T:C	F404L	0.985
4:161897:T:A	F404L	0.985
4:161897:T:G	F404L	0.985
4:161979:T:C	F432L	0.984
4:161981:T:A	F432L	0.984
4:161981:T:G	F432L	0.984
4:130821:T:C	F13L	0.979
4:130823:C:A	F13L	0.979
4:130823:C:G	F13L	0.979
4:161307:T:C	F208L	0.979
4:161309:T:A	F208L	0.979
4:161309:T:G	F208L	0.979
4:161768:T:A	H361Q	0.975
4:161768:T:G	H361Q	0.975
4:161746:T:C	L354P	0.974
4:161482:A:C	Q266P	0.973
4:161559:T:C	F292L	0.973
4:161561:T:A	F292L	0.973

dbSNP variants (sampled 300 via entrez): RS1000051503 (4:140455 A>T), RS1000140070 (4:146815 T>G), RS1000150962 (4:189607 G>T), RS1000164771 (4:126022 T>C), RS10003260 (4:191053 A>G,T), RS1000356432 (4:195084 G>C), RS1000373336 (4:175579 A>T), RS10004179 (4:137767 C>A,G,T), RS1000556811 (4:163864 A>C,G), RS10005766 (4:124343 T>A,C), RS10005767 (4:124347 T>G), RS10005847 (4:135806 G>A,C,T), RS1000603442 (4:134533 G>C), RS10006358 (4:125609 G>A), RS1000761093 (4:170435 C>G,T)

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
GCST006609_5	Response to TNF inhibitor in rheumatoid arthritis (change in tender 28-joint count)	7.000000e-08
GCST009936_16	Venous thromboembolism	9.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004653	response to TNF antagonist
EFO:0005413	joint damage measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, decreases expression	2
Valproic Acid	decreases expression, decreases methylation	2
aristolochic acid I	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
Calcitriol	decreases expression, affects cotreatment	1
Coumestrol	affects cotreatment, increases expression	1
Folic Acid	decreases expression	1
Niclosamide	decreases expression	1
Testosterone	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Propofol	increases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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