ZNF717

Summary

ZNF717 (zinc finger protein 717, HGNC:29448) is a protein-coding gene on chromosome 3p12.3, encoding Zinc finger protein 717 (Q9BY31). May be involved in transcriptional regulation.

This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1.

Source: NCBI Gene 100131827 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 14 total — 1 pathogenic
• MANE Select transcript: NM_001290208

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29448
Approved symbol	ZNF717
Name	zinc finger protein 717
Location	3p12.3
Locus type	gene with protein product
Status	Approved
Aliases	X17
Ensembl gene	ENSG00000227124
Ensembl biotype	protein_coding
OMIM	618405
Entrez	100131827

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 9 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000468296, ENST00000471541, ENST00000477374, ENST00000478296, ENST00000491507, ENST00000648506, ENST00000652011, ENST00000850935, ENST00000850936, ENST00000852299, ENST00000920378, ENST00000920379

RefSeq mRNA: 7 — MANE Select: NM_001290208 NM_001128223, NM_001290208, NM_001290209, NM_001290210, NM_001324026, NM_001324027, NM_001324028

CCDS: CCDS77773, CCDS77774

Canonical transcript exons

ENST00000652011 — 5 exons

Exon	Start	End
ENSE00003499556	75741276	75741368
ENSE00003513755	75783306	75783364
ENSE00003616141	75741610	75741736
ENSE00003844563	75785384	75785549
ENSE00004282796	75735868	75739345

Expression profiles

Bgee: expression breadth ubiquitous, 185 present calls, max score 86.99.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.2614 / max 54.2742, expressed in 1291 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
43187	3.1158	1277
43188	0.1456	49

Top tissues by expression

248 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	86.99	gold quality
oviduct epithelium	UBERON:0004804	85.10	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.43	gold quality
right uterine tube	UBERON:0001302	84.13	gold quality
adrenal tissue	UBERON:0018303	83.13	gold quality
body of pancreas	UBERON:0001150	81.72	gold quality
left ventricle myocardium	UBERON:0006566	80.76	gold quality
cardiac muscle of right atrium	UBERON:0003379	80.72	gold quality
adenohypophysis	UBERON:0002196	80.66	gold quality
lower esophagus mucosa	UBERON:0035834	80.57	gold quality
skin of abdomen	UBERON:0001416	80.11	gold quality
pancreas	UBERON:0001264	80.01	gold quality
pituitary gland	UBERON:0000007	79.97	gold quality
ileal mucosa	UBERON:0000331	79.92	gold quality
skin of leg	UBERON:0001511	79.92	gold quality
body of stomach	UBERON:0001161	79.36	gold quality
secondary oocyte	CL:0000655	79.23	silver quality
right lobe of liver	UBERON:0001114	79.12	gold quality
left lobe of thyroid gland	UBERON:0001120	79.11	gold quality
thyroid gland	UBERON:0002046	79.09	gold quality
right lobe of thyroid gland	UBERON:0001119	78.97	gold quality
buccal mucosa cell	CL:0002336	78.95	gold quality
left ovary	UBERON:0002119	78.92	gold quality
islet of Langerhans	UBERON:0000006	78.77	gold quality
right testis	UBERON:0004534	78.71	gold quality
adult mammalian kidney	UBERON:0000082	78.60	gold quality
fallopian tube	UBERON:0003889	78.60	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	78.52	gold quality
zone of skin	UBERON:0000014	78.51	gold quality
stromal cell of endometrium	CL:0002255	78.47	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-6058	no	134.07
E-MTAB-7303	no	47.88
E-ANND-3	no	5.53

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• ZNF717 gene exhibited a high frequency of mutation in hepatocellular carcinoma at both single-cell and population levels. (PMID:29327728)

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 717 — Q9BY31 (reviewed: Q9BY31)

Alternative names: Krueppel-like factor X17

All UniProt accessions (5): Q9BY31, C9J5W8, C9J8I7, C9JVC3, E5RKB3

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 (7): NP_001121695, NP_001277137, NP_001277138, NP_001277139, NP_001310955, NP_001310956, NP_001310957 (=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 (28 total): zinc finger region 22, sequence conflict 4, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BY31-F1	62.79	0.01

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 25 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, BEIER_GLIOMA_STEM_CELL_DN, chr3p12, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, ZWANG_DOWN_BY_2ND_EGF_PULSE, ZBTB12_TARGET_GENES, MIR607, MIR4672, MIR1200, MIR29A_5P, MIR6828_5P, MIR6081

GO Biological Process (3): regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of DNA-templated transcription (GO:0045892), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (3): DNA binding (GO:0003677), zinc ion binding (GO:0008270), metal ion binding (GO:0046872)

GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)

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 DNA-templated transcription	2
DNA-templated transcription	2
transcription by RNA polymerase II	1
negative regulation of RNA biosynthetic process	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
nucleic acid binding	1
transition metal ion binding	1
cation binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

624 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF717	FRG2C	A6NGY1	611
ZNF717	VCF2	Q5XKR9	579
ZNF717	FAM199X	Q6PEV8	578
ZNF717	OR4C3	Q8NH37	577
ZNF717	OR4C5	Q8NGB2	570
ZNF717	FANK1	Q8TC84	492
ZNF717	ANKRD36C	Q5JPF3	480
ZNF717	PRAMEF10	O60809	475
ZNF717	OR8U1	Q8NH10	474
ZNF717	MUC3A	Q02505	471
ZNF717	DHX32	Q7L7V1	460
ZNF717	TBX1	O43435	454
ZNF717	SPANXN2	Q5MJ10	432
ZNF717	ARHGEF10	O15013	415
ZNF717	GCNT2	Q8N0V5	410

IntAct

2 interactions, top by confidence:

A	B	Type	Score
CBX8	IGF2BP3	psi-mi:“MI:0914”(association)	0.350

ESM2 similar proteins: A0A0J9YWL9, A0A0U1RQI7, A2VDQ7, A6QL64, A7XUY5, A7XUZ6, A8MQ14, B4DH59, E9Q6E9, O60732, O75437, P0DKJ7, P0DPF3, P14606, P17038, P18751, P18753, P51523, Q08AG5, Q14586, Q14587, Q28201, Q3BBV2, Q4ZJZ0, Q4ZJZ1, Q4ZJZ3, Q5HY64, Q5JPF3, Q5TAG4, Q5TYW1, Q5XHX6, Q6P3W6, Q6P902, Q86T75, Q86VE3, Q86VQ3, Q86XN6, Q8HYC0, Q8N2N9, Q8N7M2

Diamond homologs: A0JPL0, A2VDP4, A6QLU5, A6QPT6, A8MQ14, A8MUZ8, A8MWA4, B1APH4, B2RXC5, E9PYI1, E9Q8G5, O75290, O94892, P08042, P0CH99, P0CI00, P17014, P17025, P17030, P17031, P17032, P17098, P21506, P51508, P51523, P51786, P51814, P52736, P52738, Q02525, Q03923, Q03936, Q06730, Q06732, Q0VCB0, Q13401, Q14587, Q16587, Q2M218, Q2M3X9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	3
Likely benign	7
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3024131	NM_001290208.3(ZNF717):c.123T>C (p.Asp41=)	Pathogenic

SpliceAI

1292 predictions. Top by Δscore:

Variant	Effect	Δscore
3:75741605:CTCA:C	donor_loss	1.0000
3:75741606:TCACC:T	donor_loss	1.0000
3:75741607:CAC:C	donor_loss	1.0000
3:75741608:A:AC	donor_gain	1.0000
3:75741608:AC:A	donor_gain	1.0000
3:75741609:C:CC	donor_gain	1.0000
3:75741609:C:G	donor_loss	1.0000
3:75741609:CC:C	donor_gain	1.0000
3:75783301:CTCA:C	donor_loss	1.0000
3:75783302:TCA:T	donor_loss	1.0000
3:75783303:CACCA:C	donor_loss	1.0000
3:75783304:ACC:A	donor_loss	1.0000
3:75783305:C:CT	donor_loss	1.0000
3:75739343:CAG:C	acceptor_gain	0.9900
3:75741604:ACTC:A	donor_loss	0.9900
3:75741609:CCCA:C	donor_gain	0.9900
3:75741649:C:A	donor_gain	0.9900
3:75741863:CCC:C	acceptor_gain	0.9900
3:75741864:CCC:C	acceptor_gain	0.9900
3:75762990:A:C	acceptor_gain	0.9900
3:75783299:AACTC:A	donor_loss	0.9900
3:75783300:ACTCA:A	donor_loss	0.9900
3:75783304:A:AC	donor_gain	0.9900
3:75783305:C:CC	donor_gain	0.9900
3:75783360:CATAG:C	acceptor_gain	0.9900
3:75741608:ACC:A	donor_gain	0.9800
3:75741609:CCC:C	donor_gain	0.9800
3:75783298:CAACT:C	donor_loss	0.9800
3:75783305:CCAGA:C	donor_gain	0.9800
3:75783362:TAG:T	acceptor_gain	0.9800

AlphaMissense

6140 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000239727 (3:75749558 G>A,T), RS1000350452 (3:75764778 C>T), RS1000404861 (3:75758294 C>T), RS1000478675 (3:75777261 C>G,T), RS1000638904 (3:75752525 C>A), RS1000863081 (3:75754248 C>T), RS1000894153 (3:75754386 G>C), RS1001012155 (3:75781455 A>G), RS1001108937 (3:75785711 G>A), RS1001422523 (3:75749046 A>G), RS1001447355 (3:75780591 G>A,T), RS1001462196 (3:75722437 G>A), RS1001523579 (3:75694950 G>C), RS1001680069 (3:75759098 T>C), RS1001776029 (3:75752879 T>A,C,G)

Disease associations

OMIM: gene MIM:618405 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): prostate cancer (MONDO:0008315), breast ductal adenocarcinoma (MONDO:0005590)

Orphanet (1): Familial prostate cancer (Orphanet:1331)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST011741_27	LDL cholesterol levels in HIV infection	1.000000e-05

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
mercuric bromide	decreases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases abundance, affects cotreatment, increases expression	1
propionaldehyde	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	increases expression	1
aflatoxin B2	decreases methylation	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
pentanal	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
abrine	decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
Sunitinib	increases expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Air Pollutants	increases expression, affects cotreatment, increases abundance	1
Aldehydes	increases expression	1
Ozone	affects cotreatment, increases expression, increases abundance	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1
Gold Compounds	decreases expression	1
Okadaic Acid	decreases expression	1
Volatile Organic Compounds	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	PHASE4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer