ZNF519

Summary

ZNF519 (zinc finger protein 519, HGNC:30574) is a protein-coding gene on chromosome 18p11.21, encoding Zinc finger protein 519 (Q8TB69). May be involved in transcriptional regulation.

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

Source: NCBI Gene 162655 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 77 total
• MANE Select transcript: NM_145287

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30574
Approved symbol	ZNF519
Name	zinc finger protein 519
Location	18p11.21
Locus type	gene with protein product
Status	Approved
Aliases	HsT2362, FLJ36809
Ensembl gene	ENSG00000175322
Ensembl biotype	protein_coding
Entrez	162655

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 8 protein_coding_CDS_not_defined, 2 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000586507, ENST00000587419, ENST00000587512, ENST00000588435, ENST00000589203, ENST00000589498, ENST00000590202, ENST00000591393, ENST00000591987, ENST00000592049, ENST00000592345, ENST00000592411, ENST00000624133

RefSeq mRNA: 1 — MANE Select: NM_145287 NM_145287

CCDS: CCDS32797

Canonical transcript exons

ENST00000590202 — 3 exons

Exon	Start	End
ENSE00002752449	14132275	14132435
ENSE00002855082	14099938	14106409
ENSE00003653211	14124350	14124476

Expression profiles

Bgee: expression breadth ubiquitous, 183 present calls, max score 91.01.

FANTOM5 (CAGE): breadth broad, TPM avg 0.8491 / max 57.4145, expressed in 460 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
171293	0.8491	460

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	91.01	gold quality
cortical plate	UBERON:0005343	86.60	gold quality
calcaneal tendon	UBERON:0003701	85.94	gold quality
ganglionic eminence	UBERON:0004023	85.35	gold quality
cerebellar hemisphere	UBERON:0002245	84.78	gold quality
cerebellar cortex	UBERON:0002129	84.71	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.55	gold quality
right hemisphere of cerebellum	UBERON:0014890	84.03	gold quality
cerebellum	UBERON:0002037	83.59	gold quality
Brodmann (1909) area 23	UBERON:0013554	83.44	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.15	gold quality
middle temporal gyrus	UBERON:0002771	83.05	gold quality
primary visual cortex	UBERON:0002436	82.31	gold quality
ventricular zone	UBERON:0003053	81.77	gold quality
muscle layer of sigmoid colon	UBERON:0035805	78.66	gold quality
lower esophagus mucosa	UBERON:0035834	78.65	gold quality
occipital lobe	UBERON:0002021	78.50	gold quality
Brodmann (1909) area 9	UBERON:0013540	77.81	gold quality
body of uterus	UBERON:0009853	77.51	gold quality
tibia	UBERON:0000979	77.00	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	76.44	gold quality
adrenal tissue	UBERON:0018303	76.26	gold quality
ectocervix	UBERON:0012249	75.80	gold quality
esophagus mucosa	UBERON:0002469	75.78	gold quality
right frontal lobe	UBERON:0002810	75.55	gold quality
left ovary	UBERON:0002119	75.33	gold quality
anterior cingulate cortex	UBERON:0009835	75.21	gold quality
esophagus	UBERON:0001043	74.98	gold quality
tendon	UBERON:0000043	74.88	gold quality
uterine cervix	UBERON:0000002	74.84	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	5.76

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): STAT1

miRNA regulators (miRDB)

188 targeting ZNF519, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684

Literature-anchored findings (GeneRIF, showing 1)

• Noxa inhibits oncogenesis through ZNF519 in gastric cancer and is suppressed by hsa-miR-200b-3p. (PMID:38503887)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Zfp941	ENSMUSG00000060314

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 519 — Q8TB69 (reviewed: Q8TB69)

All UniProt accessions (3): Q8TB69, K7EJG2, K7ERG6

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_660330* (*=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
IPR050589	Ikaros_C2H2-ZF	Family

Pfam: PF00096, PF01352

UniProt features (17 total): zinc finger region 10, sequence variant 4, chain 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TB69-F1	59.61	0.14

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway
R-HSA-9843940	Regulation of endogenous retroelements by KRAB-ZFP proteins

MSigDB gene sets: 64 (showing top): DODD_NASOPHARYNGEAL_CARCINOMA_UP, GEORGES_TARGETS_OF_MIR192_AND_MIR215, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, MIKKELSEN_ES_ICP_WITH_H3K4ME3, REACTOME_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, ASH1L_TARGET_GENES, CEBPZ_TARGET_GENES, HSD17B8_TARGET_GENES, PRKDC_TARGET_GENES, ZNF350_TARGET_GENES, MIR3646, MIR570_3P, MIR5696, MIR30B_5P_MIR30C_5P

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-2 pathways:

Category	Pathways
RNA Polymerase II Transcription	1
Regulation of endogenous retroelements	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

398 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF519	YWHAE	P29360	448
ZNF519	CFAP68	Q9H5F2	447
ZNF519	ZBTB21	Q9ULJ3	384
ZNF519	FAM174A	Q8TBP5	375
ZNF519	POTEC	B2RU33	371
ZNF519	ANKRD30B	Q9BXX2	367
ZNF519	POGZ	Q7Z3K3	350
ZNF519	TTK	P33981	350
ZNF519	CCDC178	Q5BJE1	348
ZNF519	PHF8	Q9UPP1	326
ZNF519	CCDC146	Q8IYE0	310
ZNF519	ZNF385B	Q569K4	309
ZNF519	ZNF827	Q17R98	301
ZNF519	SLFN13	Q68D06	298
ZNF519	TSPAN17	Q96FV3	288
ZNF519	ARGLU1	Q9NWB6	288

IntAct

2 interactions, top by confidence:

A	B	Type	Score
ZNF519	SP8	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (2): ZNF519 (Affinity Capture-RNA), SP8 (Two-hybrid)

ESM2 similar proteins: A0A087WUV0, A0A0J9YWL9, A6QL64, A7XUY5, A7XUZ6, B4DH59, O75437, P0CJ79, P0DKJ7, P0DKJ8, P0DPF3, P14606, P18733, P18751, P18753, P51523, Q08AG5, Q14586, Q14587, Q28201, Q3BBV2, Q3ZCX4, Q4ZJZ1, Q5JPF3, Q5JVG2, Q5RER9, Q5TYW1, Q5XHX6, Q68DY1, Q6P3W6, Q6P902, Q6PDB4, Q6ZN06, Q76KX8, Q86T75, Q86VE3, Q86XN6, Q8N2N9, Q8N7M2, Q8TB69

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	68
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

626 predictions. Top by Δscore:

Variant	Effect	Δscore
18:14132270:CTCA:C	donor_loss	1.0000
18:14132271:TCAC:T	donor_loss	1.0000
18:14132272:CA:C	donor_loss	1.0000
18:14132273:AC:A	donor_gain	1.0000
18:14132274:CC:C	donor_gain	1.0000
18:14132274:CCA:C	donor_gain	1.0000
18:14123217:T:TC	acceptor_gain	0.9900
18:14132273:A:AC	donor_gain	0.9900
18:14132274:C:CC	donor_gain	0.9900
18:14132274:CCAT:C	donor_gain	0.9900
18:14132274:CCATT:C	donor_gain	0.9800
18:14132309:G:C	donor_gain	0.9800
18:14106405:CACAG:C	acceptor_gain	0.9700
18:14106407:CAG:C	acceptor_gain	0.9700
18:14123209:T:C	acceptor_gain	0.9700
18:14123214:T:TC	acceptor_gain	0.9700
18:14123214:T:C	acceptor_gain	0.9600
18:14124341:TATTC:T	donor_loss	0.9600
18:14124342:ATTC:A	donor_loss	0.9600
18:14124343:TTCT:T	donor_loss	0.9600
18:14124344:TCTCA:T	donor_loss	0.9600
18:14124345:C:G	donor_loss	0.9600
18:14124346:TCA:T	donor_loss	0.9600
18:14124347:CA:C	donor_loss	0.9600
18:14124348:ACCC:A	donor_loss	0.9600
18:14124349:C:A	donor_loss	0.9600
18:14124473:GTTCC:G	acceptor_gain	0.9600
18:14124474:TTCCT:T	acceptor_gain	0.9600
18:14124476:CCT:C	acceptor_loss	0.9500
18:14124477:CTGGA:C	acceptor_loss	0.9500

AlphaMissense

3621 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:14105301:A:C	F413L	0.995
18:14105301:A:T	F413L	0.995
18:14105303:A:G	F413L	0.995
18:14105469:A:C	F357L	0.995
18:14105469:A:T	F357L	0.995
18:14105471:A:G	F357L	0.995
18:14105553:A:C	F329L	0.995
18:14105553:A:T	F329L	0.995
18:14105555:A:G	F329L	0.995
18:14105385:A:C	F385L	0.993
18:14105385:A:T	F385L	0.993
18:14105387:A:G	F385L	0.993
18:14105217:A:C	F441L	0.991
18:14105217:A:T	F441L	0.991
18:14105219:A:G	F441L	0.991
18:14105637:A:C	F301L	0.990
18:14105637:A:T	F301L	0.990
18:14105639:A:G	F301L	0.990
18:14104965:A:C	F525L	0.989
18:14104965:A:T	F525L	0.989
18:14104967:A:G	F525L	0.989
18:14105272:T:G	Q423P	0.989
18:14105049:A:C	F497L	0.988
18:14105049:A:T	F497L	0.988
18:14105051:A:G	F497L	0.988
18:14105133:A:C	F469L	0.988
18:14105133:A:T	F469L	0.988
18:14105135:A:G	F469L	0.988
18:14105274:A:C	H422Q	0.987
18:14105274:A:T	H422Q	0.987

dbSNP variants (sampled 300 via entrez): RS1000087348 (18:14116403 T>G), RS1000115420 (18:14077479 G>A), RS1000247423 (18:14083491 T>C), RS1000260586 (18:14079648 TA>T), RS1000339823 (18:14109833 C>A,T), RS1000360627 (18:14096091 A>G), RS1000369904 (18:14129902 A>G), RS1000381546 (18:14091948 GA>G), RS1000387036 (18:14129579 T>A,C), RS1000418060 (18:14089530 T>C), RS1000466567 (18:14077081 A>T), RS1000483805 (18:14128574 C>T), RS1000486823 (18:14086167 G>A), RS1000566068 (18:14120783 T>A), RS1000575582 (18:14079279 G>C,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

3 associations (top):

Study	Trait	p-value
GCST007625_5	Negative urgency	9.000000e-07
GCST009391_160	Metabolite levels	2.000000e-06
GCST011161_6	Macrovascular complications in type 2 diabetes	5.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006946	behavioural disinhibition measurement
EFO:0010487	glutamate measurement
EFO:0010977	macrovascular complications of diabetes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases expression, decreases methylation	6
entinostat	decreases expression, affects cotreatment	2
Panobinostat	affects cotreatment, decreases expression	2
Benzo(a)pyrene	increases expression, affects methylation	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
TAK-243	increases sumoylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
benzo(e)pyrene	increases methylation	1
pentanal	decreases 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	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Succimer	increases expression, affects cotreatment	1
Ethyl Methanesulfonate	increases expression	1
Hydralazine	affects cotreatment, increases expression	1
Methapyrilene	increases methylation	1
Methotrexate	increases expression	1
Nickel	decreases expression	1
Phenylmercuric Acetate	affects cotreatment, decreases expression	1
Thiram	increases expression	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	increases expression	1
Magnetite Nanoparticles	increases expression, affects cotreatment	1

Clinical trials (associated diseases)

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