ZNF716

Summary

ZNF716 (zinc finger protein 716, HGNC:32458) is a protein-coding gene on chromosome 7p11.2, encoding Zinc finger protein 716 (A6NP11). 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 441234 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 100 total
• MANE Select transcript: NM_001159279

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32458
Approved symbol	ZNF716
Name	zinc finger protein 716
Location	7p11.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ46189
Ensembl gene	ENSG00000182111
Ensembl biotype	protein_coding
Entrez	441234

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000420713

RefSeq mRNA: 1 — MANE Select: NM_001159279 NM_001159279

CCDS: CCDS55112

Canonical transcript exons

ENST00000420713 — 4 exons

Exon	Start	End
ENSE00001480876	57450177	57450327
ENSE00001597193	57462460	57462586
ENSE00001620421	57463073	57463168
ENSE00001622208	57468724	57473559

Expression profiles

Bgee: expression breadth tissue_specific, 5 present calls, max score 73.87.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1576 / max 72.0586, expressed in 30 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
78783	0.1431	29
78784	0.0144	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	73.87	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	73.59	gold quality
sural nerve	UBERON:0015488	50.48	gold quality
ventricular zone	UBERON:0003053	43.22	gold quality
cortical plate	UBERON:0005343	43.11	gold quality
colonic epithelium	UBERON:0000397	41.61	gold quality
skeletal muscle tissue	UBERON:0001134	40.75	gold quality
stromal cell of endometrium	CL:0002255	39.34	gold quality
muscle tissue	UBERON:0002385	38.75	gold quality
bone marrow cell	CL:0002092	38.06	gold quality
calcaneal tendon	UBERON:0003701	37.54	gold quality
ganglionic eminence	UBERON:0004023	37.12	gold quality
duodenum	UBERON:0002114	36.91	gold quality
granulocyte	CL:0000094	35.20	gold quality
bone marrow	UBERON:0002371	34.89	gold quality
leukocyte	CL:0000738	34.27	gold quality
monocyte	CL:0000576	33.85	gold quality
blood	UBERON:0000178	33.75	gold quality
liver	UBERON:0002107	32.23	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
tonsil	UBERON:0002372	31.67	gold quality
lymph node	UBERON:0000029	31.02	gold quality
prefrontal cortex	UBERON:0000451	30.98	gold quality
primary visual cortex	UBERON:0002436	30.14	gold quality
cortex of kidney	UBERON:0001225	29.88	silver quality
testis	UBERON:0000473	29.79	gold quality
right adrenal gland cortex	UBERON:0035827	29.69	gold quality
urinary bladder	UBERON:0001255	29.42	gold quality
muscle of leg	UBERON:0001383	29.27	gold quality
vermiform appendix	UBERON:0001154	29.16	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-36552	yes	150.64
E-ANND-3	yes	6.57

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

175 targeting ZNF716, 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-3064-3P	100.00	70.09	1254
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-12121	99.99	66.64	255
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-8068	99.98	73.85	2376

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 716 — A6NP11 (reviewed: A6NP11)

All UniProt accessions (1): A6NP11

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.

RefSeq proteins (1): NP_001152751* (*=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
IPR050826	Krueppel_C2H2_ZnFinger	Family

Pfam: PF00096, PF01352

UniProt features (14 total): zinc finger region 12, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NP11-F1	70.99	0.25

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 44 (showing top): GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, MIR520D_5P, MIR524_5P, MIR23A_3P_MIR23B_3P, MIR23C, MIR6809_3P, MIR19A_3P, MIR19B_3P, MIR4307, MIR6833_3P, MIR6873_3P, MIR3924, MIR4768_5P, MIR4762_3P

GO Biological Process (2): regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357)

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
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
transition metal ion binding	1
nucleic acid binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

330 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF716	TTC16	Q8NEE8	448
ZNF716	POM121L12	Q8N7R1	399
ZNF716	TOGARAM2	Q6ZUX3	397
ZNF716	NBPF14	Q5TI25	395
ZNF716	FAM53A	Q6NSI3	376
ZNF716	TGIF2LX	Q8IUE1	373
ZNF716	NUDCD2	Q8WVJ2	372
ZNF716	PTRH1	Q86Y79	371
ZNF716	TOR2A	Q5JU69	369
ZNF716	SUMF2	Q8NBJ7	337
ZNF716	NBDY	A0A0U1RRE5	327
ZNF716	CRIPT	Q9P021	322
ZNF716	VSTM2A	Q8TAG5	320
ZNF716	BOLA2	Q9H3K6	312
ZNF716	CLEC3A	O75596	311

IntAct

2 interactions, top by confidence:

A	B	Type	Score
ZNF726	ZNF716	psi-mi:“MI:0914”(association)	0.350

BioGRID (4): ZNF716 (Affinity Capture-MS), ZNF716 (Affinity Capture-MS), ZNF716 (Cross-Linking-MS (XL-MS)), ZNF716 (Reconstituted Complex)

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	79
Likely benign	13
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

509 predictions. Top by Δscore:

Variant	Effect	Δscore
7:57450324:AATG:A	donor_gain	1.0000
7:57450325:ATG:A	donor_gain	1.0000
7:57450326:TG:T	donor_gain	1.0000
7:57450326:TGGTG:T	donor_loss	1.0000
7:57450327:GG:G	donor_gain	1.0000
7:57450328:G:GG	donor_gain	1.0000
7:57450323:AAATG:A	donor_gain	0.9900
7:57462455:TTTAG:T	acceptor_loss	0.9900
7:57462456:TTA:T	acceptor_loss	0.9900
7:57462457:TAGGG:T	acceptor_loss	0.9900
7:57462459:G:T	acceptor_loss	0.9900
7:57462586:GGTGA:G	donor_loss	0.9900
7:57462588:T:G	donor_loss	0.9900
7:57462589:GAG:G	donor_loss	0.9900
7:57463063:A:AG	acceptor_gain	0.9900
7:57463069:ACAG:A	acceptor_loss	0.9900
7:57463070:CA:C	acceptor_loss	0.9900
7:57463072:G:T	acceptor_loss	0.9900
7:57463072:GGT:G	acceptor_gain	0.9900
7:57462458:A:AG	acceptor_gain	0.9800
7:57462458:AG:A	acceptor_gain	0.9800
7:57462459:G:GG	acceptor_gain	0.9800
7:57462459:GG:G	acceptor_gain	0.9800
7:57462585:GG:G	donor_gain	0.9800
7:57462586:GG:G	donor_gain	0.9800
7:57462592:G:GT	donor_gain	0.9800
7:57462593:A:T	donor_gain	0.9800
7:57462459:GGGA:G	acceptor_gain	0.9700
7:57463165:CCAG:C	donor_loss	0.9700
7:57463166:CAG:C	donor_loss	0.9700

AlphaMissense

3273 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:57469374:T:C	F305L	0.975
7:57469376:T:A	F305L	0.975
7:57469376:T:G	F305L	0.975
7:57469458:T:C	F333L	0.974
7:57469460:T:A	F333L	0.974
7:57469460:T:G	F333L	0.974
7:57469209:T:C	F250L	0.972
7:57469211:T:A	F250L	0.972
7:57469211:T:G	F250L	0.972
7:57469626:T:C	F389L	0.969
7:57469628:T:A	F389L	0.969
7:57469628:T:G	F389L	0.969
7:57469710:T:C	F417L	0.962
7:57469712:T:A	F417L	0.962
7:57469712:T:G	F417L	0.962
7:57469794:T:C	F445L	0.953
7:57469796:T:A	F445L	0.953
7:57469796:T:G	F445L	0.953
7:57469542:T:C	F361L	0.951
7:57469544:T:A	F361L	0.951
7:57469544:T:G	F361L	0.951
7:57462493:T:C	F25L	0.949
7:57462495:T:A	F25L	0.949
7:57462495:T:G	F25L	0.949
7:57462472:T:C	F18L	0.928
7:57462474:C:A	F18L	0.928
7:57462474:C:G	F18L	0.928
7:57469125:T:C	F222L	0.923
7:57469127:T:A	F222L	0.923
7:57469127:T:G	F222L	0.923

dbSNP variants (sampled 300 via entrez): RS1000136526 (7:57448866 C>A), RS1000167556 (7:57448586 T>C), RS1000352838 (7:57456575 A>G), RS1000722392 (7:57456850 C>A), RS1001992388 (7:57453418 C>T), RS1002425272 (7:57453100 G>A,C), RS1003691429 (7:57451628 A>G), RS1004068616 (7:57452025 C>G,T), RS1004343466 (7:57452088 T>C), RS1005613281 (7:57457380 T>C), RS1005981686 (7:57450891 G>T), RS1006012863 (7:57450475 C>A,T), RS1007250189 (7:57456460 T>C), RS1007654986 (7:57449540 C>A,G,T), RS1007687502 (7:57449307 A>G)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:189800

GenCC curated gene-disease

Mondo (3): preeclampsia (MONDO:0005081), primary ovarian failure (MONDO:0005387), autism spectrum disorder (MONDO:0005258)

Orphanet (3): Preeclampsia (Orphanet:275555), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619), NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002310_4	Pulse pressure (alcohol consumption interaction)	1.000000e-07

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004329	alcohol drinking
EFO:0005763	pulse pressure measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D011225	Pre-Eclampsia	C12.050.703.395.249
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
nickel sulfate	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Copper	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00117546	PHASE4	UNKNOWN	Cardiovascular and Autonomic Reactivity in Women With a History of Pre-eclampsia
NCT00567957	PHASE4	UNKNOWN	Remifentanil for General Anesthesia in Preeclamptics
NCT01030627	PHASE4	COMPLETED	Treatment Approaches to Preeclampsia
NCT01352234	PHASE4	COMPLETED	Comparison of Doses of Acetylsalicylic Acid in Women With Previous History of Preeclampsia
NCT01361425	PHASE4	UNKNOWN	Anti-Hypertensive Treatment In Stable Pregnant Women With Severe Pre-Eclampsia (Metildopape)
NCT01729468	PHASE4	COMPLETED	Prevention of Pre-eclampsia and SGA by Low-Dose Aspirin in Nulliparous Women With Abnormal First-trimester Uterine Artery Dopplers
NCT01761916	PHASE4	COMPLETED	Clonidine Versus Captopril for Treatment of Postpartum Very High Blood Pressure
NCT01912677	PHASE4	COMPLETED	Oral Antihypertensive Regimens for Management of Hypertension in Pregnancy
NCT02025426	PHASE4	TERMINATED	Phenylephrine Versus Ephedrine in Pre-eclampsia
NCT02091401	PHASE4	COMPLETED	A Trial Comparing Treatment With the Springfusor Infusion Pump to the IV Magnesium Sulfate Regimen
NCT02163655	PHASE4	COMPLETED	Diuretics for Postpartum High Blood Pressure in Preeclampsia
NCT02338687	PHASE4	COMPLETED	Low Dose Calcium to Prevent Preeclampsia
NCT02396030	PHASE4	TERMINATED	Different Schemes of Magnesium Sulfate for Preeclampsia
NCT02531490	PHASE4	UNKNOWN	Early Vascular Adjustments During Hypertensive Pregnancy
NCT02699827	PHASE4	COMPLETED	Adding MgSO4 to Epidural Levobupivacaine in CS for Patients With Preeclampsia
NCT02835339	PHASE4	COMPLETED	Magnesium Sulfate in Obese Preeclamptics
NCT02891174	PHASE4	COMPLETED	The Effect of Ibuprofen on Post-partum Blood Pressure in Women With Hypertensive Disorders of Pregnancy
NCT02911701	PHASE4	COMPLETED	Effect of Acetaminophen on Postpartum Blood Pressure Control in Preeclampsia With Severe Features
NCT03171480	PHASE4	COMPLETED	Use of Nitrous Oxide Donor for Labor Induction in Women With PreEclampsia
NCT03233880	PHASE4	UNKNOWN	Impact of Antichlamydial Treatment on the Rate of Preeclampsia
NCT03237000	PHASE4	UNKNOWN	Effect of Administering Intravenous Magnesium Sulfate on Fetal Cardiotocography and Neonatal Outcome in Preeclamptic Patients
NCT03506724	PHASE4	COMPLETED	Response to Anti-hypertensives in Pregnant and Postpartum Patients
NCT03674606	PHASE4	COMPLETED	Trial of Early Screening Test for Pre-eclampsia and Growth Restriction
NCT03735433	PHASE4	TERMINATED	The Effect of Two Aspirin Dosing Strategies for Obese Women at High Risk for Preeclampsia
NCT03824119	PHASE4	UNKNOWN	Postpartum NSAIDS and Maternal Hypertension
NCT04051567	PHASE4	UNKNOWN	Low-dose Aspirin for Prevention of Adverse Pregnancy Outcomes in Twin Pregnancies
NCT04077853	PHASE4	COMPLETED	Progesterone in Expectantly Managed Early-onset Preeclampsia
NCT04158830	PHASE4	WITHDRAWN	Aspirin (ASA) Therapy and Preeclampsia Prevention
NCT04424693	PHASE4	UNKNOWN	Comparing the Incidence of Preeclampsia Between Pregnant Women Receiving Tdap Vaccinations at Week 28 or at Week 36
NCT04631627	PHASE4	UNKNOWN	Early Prediction and Randomised Prevention of Preeclampsia With Low Dose Aspirin in Chinese Cohort
NCT04656665	PHASE4	UNKNOWN	The Effectiveness of Aspirin on Preventing Pre-eclampsia
NCT04797949	PHASE4	WITHDRAWN	Adherence to Universal Aspirin Compared to Screening Indicated Aspirin for Prevention of Preeclampsia
NCT04908982	PHASE4	UNKNOWN	Aspirin for the Prevention of Preeclampsia in Women With Stage 1 Hypertension
NCT05221164	PHASE4	UNKNOWN	162 mg of Aspirin for Prevention of Preeclampsia
NCT05294952	PHASE4	UNKNOWN	co Ihibtory Receptor in Preeclampsia
NCT05514847	PHASE4	ACTIVE_NOT_RECRUITING	Low Dose Aspirin for Preterm Preeclampsia Preventionmg/day Dose in High-risk Patients
NCT05586373	PHASE4	COMPLETED	Ibuprofen vs Dipyrone After C-section in Preeclampsia
NCT06069102	PHASE4	COMPLETED	Optimal Blood Pressure Treatment Thresholds Postpartum
NCT06107335	PHASE4	NOT_YET_RECRUITING	Effect of Albumin Versus Routine Care on Hemodynamic Response and Stability in Patients With Preeclampsia Guided by a Non-invasive Hemodynamic Monitoring System During Cesarean Delivery With Spinal Anesthesia
NCT06281665	PHASE4	RECRUITING	Treatment With Aspirin After Preeclampsia: TAP Trial