ZNF594

Summary

ZNF594 (zinc finger protein 594, HGNC:29392) is a protein-coding gene on chromosome 17p13.2, encoding Zinc finger protein 594 (Q96JF6). May be involved in transcriptional regulation.

Predicted to enable DNA binding activity and zinc ion binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleoplasm.

Source: NCBI Gene 84622 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 151 total
• MANE Select transcript: NM_032530

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29392
Approved symbol	ZNF594
Name	zinc finger protein 594
Location	17p13.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1871
Ensembl gene	ENSG00000180626
Ensembl biotype	protein_coding
Entrez	84622

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000399604, ENST00000575779, ENST00000576772, ENST00000851805

RefSeq mRNA: 1 — MANE Select: NM_032530 NM_032530

CCDS: CCDS42241

Canonical transcript exons

ENST00000575779 — 2 exons

Exon	Start	End
ENSE00001539307	5191748	5191868
ENSE00002658659	5179535	5184276

Expression profiles

Bgee: expression breadth ubiquitous, 186 present calls, max score 81.46.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.8601 / max 39.6096, expressed in 1377 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164020	3.8601	1377

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	81.46	gold quality
ganglionic eminence	UBERON:0004023	80.75	gold quality
ventricular zone	UBERON:0003053	80.68	gold quality
calcaneal tendon	UBERON:0003701	80.29	gold quality
sural nerve	UBERON:0015488	79.80	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.31	gold quality
left ovary	UBERON:0002119	76.35	gold quality
right ovary	UBERON:0002118	75.55	gold quality
adrenal tissue	UBERON:0018303	75.54	gold quality
right uterine tube	UBERON:0001302	74.94	gold quality
ovary	UBERON:0000992	74.89	gold quality
right hemisphere of cerebellum	UBERON:0014890	74.81	gold quality
cardiac muscle of right atrium	UBERON:0003379	74.41	gold quality
left ventricle myocardium	UBERON:0006566	74.19	gold quality
cerebellar hemisphere	UBERON:0002245	74.11	gold quality
cerebellar cortex	UBERON:0002129	74.00	gold quality
gastrocnemius	UBERON:0001388	73.95	gold quality
pituitary gland	UBERON:0000007	73.90	gold quality
right lobe of thyroid gland	UBERON:0001119	73.76	gold quality
muscle of leg	UBERON:0001383	73.49	gold quality
adenohypophysis	UBERON:0002196	73.42	gold quality
body of uterus	UBERON:0009853	73.26	gold quality
left lobe of thyroid gland	UBERON:0001120	73.05	gold quality
stromal cell of endometrium	CL:0002255	73.04	gold quality
thyroid gland	UBERON:0002046	72.97	gold quality
metanephros cortex	UBERON:0010533	72.93	gold quality
vermiform appendix	UBERON:0001154	72.91	gold quality
cerebellum	UBERON:0002037	72.75	gold quality
muscle layer of sigmoid colon	UBERON:0035805	72.45	gold quality
smooth muscle tissue	UBERON:0001135	72.44	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-8060	yes	299.62
E-MTAB-6058	no	40.68
E-ANND-3	no	2.87

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

113 targeting ZNF594, 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-188-3P	100.00	68.76	1240
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-4302	99.89	67.94	1187

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
danio_rerio	zgc:66472	ENSDARG00000075916
drosophila_melanogaster	mld	FBGN0263490

Paralogs (36): ZNF302 (ENSG00000089335), ZNF184 (ENSG00000096654), CTCF (ENSG00000102974), ZNF574 (ENSG00000105732), ZBTB24 (ENSG00000112365), ZNF142 (ENSG00000115568), CTCFL (ENSG00000124092), ZNF473 (ENSG00000142528), ZNF827 (ENSG00000151612), ZNF689 (ENSG00000156853), ZNF208 (ENSG00000160321), ZNF91 (ENSG00000167232), ZNF526 (ENSG00000167625), ZNF764 (ENSG00000169951), ZNF747 (ENSG00000169955), ZNF282 (ENSG00000170265), ZNF160 (ENSG00000170949), ZNF497 (ENSG00000174586), ZBTB34 (ENSG00000177125), ZNF771 (ENSG00000179965), ZNF48 (ENSG00000180035), ZBTB37 (ENSG00000185278), ZFP92 (ENSG00000189420), ZNF107 (ENSG00000196247), ZNF729 (ENSG00000196350), ZNF569 (ENSG00000196437), ZNF420 (ENSG00000197050), ZNF785 (ENSG00000197162), ZNF665 (ENSG00000197497), ZNF181 (ENSG00000197841), ZNF347 (ENSG00000197937), ZNF84 (ENSG00000198040), ZBTB48 (ENSG00000204859), ZNF845 (ENSG00000213799), ZNF99 (ENSG00000213973), ZNF688 (ENSG00000229809)

Protein

Protein identifiers

Zinc finger protein 594 — Q96JF6 (reviewed: Q96JF6)

Alternative names: Zinc finger protein HZF18

All UniProt accessions (2): Q96JF6, I3L508

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_115919* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096

UniProt features (29 total): zinc finger region 24, sequence variant 3, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96JF6-F1	69.26	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 52 (showing top): ODONNELL_TARGETS_OF_MYC_AND_TFRC_UP, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, MARTENS_TRETINOIN_RESPONSE_DN, HES2_TARGET_GENES, HHEX_TARGET_GENES, RBM34_TARGET_GENES, SNIP1_TARGET_GENES, ZNF524_TARGET_GENES, MIR4262, MIR6809_3P, MIR181A_5P_MIR181B_5P, MIR181D_5P, MIR181C_5P, MIR6833_3P, MIR4492

GO Biological Process (1): regulation of transcription by RNA polymerase II (GO:0006357)

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), nucleoplasm (GO:0005654)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
nucleic acid binding	1
transition metal ion binding	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

476 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF594	CAPN15	O75808	535
ZNF594	MED8	Q96G25	479
ZNF594	ETV7	Q9Y603	462
ZNF594	RNF157	Q96PX1	447
ZNF594	TFB2M	Q9H5Q4	443
ZNF594	ZNF236	Q9UL36	417
ZNF594	PPAN	Q9NQ55	398
ZNF594	DOT1L	Q8TEK3	390
ZNF594	MAMLD1	Q13495	386
ZNF594	FRG2C	A6NGY1	370
ZNF594	A0A0B4J1V8	A0A0B4J1V8	364
ZNF594	ZNF862	O60290	352
ZNF594	MSH3	P20585	350
ZNF594	C2CD4C	Q8TF44	349
ZNF594	EPHB2	P29323	349

IntAct

8 interactions, top by confidence:

A	B	Type	Score
ZNF594	ECE1	psi-mi:“MI:0915”(physical association)	0.370
NOTCH2	ZNF320	psi-mi:“MI:0914”(association)	0.350
LTBP2	ZNF320	psi-mi:“MI:0914”(association)	0.350
ANKRD36B	CCDC66	psi-mi:“MI:0914”(association)	0.350
FBLN2	ZNF316	psi-mi:“MI:0914”(association)	0.350
FMR1	ZNF594	psi-mi:“MI:0915”(physical association)	0.000
ZNF594	GOLGA2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (8): ZNF594 (Affinity Capture-MS), GOLGA2 (Two-hybrid), ZNF594 (Affinity Capture-MS), ZNF594 (Affinity Capture-MS), ZNF594 (Affinity Capture-MS), ZNF594 (Affinity Capture-MS), ZNF594 (Affinity Capture-MS), ZNF594 (Affinity Capture-RNA)

ESM2 similar proteins: A2VDQ7, A6NNF4, A8MQ14, A8MTY0, E9QAG8, O75290, O75373, P08043, P0CJ79, P10751, P17017, P17027, P17039, P35789, P51522, P51523, Q08AN1, Q14585, Q14587, Q3SYV7, Q3ZCX4, Q4R4C7, Q52M93, Q5MCW4, Q5R5U3, Q5R8X1, Q5R9F0, Q5SXM1, Q6ECI4, Q6JLC9, Q6P3V2, Q6P5C7, Q6ZN57, Q86UE3, Q86XN6, Q86YE8, Q8C827, Q8IYB9, Q8N4W9, Q8N7M2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	136
Likely benign	12
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

84 predictions. Top by Δscore:

Variant	Effect	Δscore
17:5184161:ACATT:A	donor_gain	0.9600
17:5184162:CATTC:C	donor_gain	0.9600
17:5184165:T:A	donor_gain	0.9600
17:5184161:A:AC	donor_gain	0.8600
17:5184162:C:CC	donor_gain	0.8600
17:5184157:A:AC	donor_gain	0.8200
17:5184158:C:CC	donor_gain	0.8200
17:5184162:CATT:C	donor_gain	0.8000
17:5183142:T:TA	donor_gain	0.6800
17:5184214:T:TA	donor_gain	0.6200
17:5184163:A:C	donor_gain	0.5900
17:5184382:C:A	donor_gain	0.5800
17:5184156:A:T	donor_gain	0.5300
17:5184381:T:A	donor_gain	0.5300
17:5183657:T:TA	donor_gain	0.5200
17:5184156:A:AT	donor_gain	0.4900
17:5183654:ATGT:A	donor_gain	0.4700
17:5183801:ATTT:A	donor_gain	0.4100
17:5184158:CTCA:C	donor_gain	0.4100
17:5184155:TAAC:T	donor_gain	0.4000
17:5184155:TA:T	donor_gain	0.3600
17:5184158:C:G	donor_gain	0.3600
17:5184113:CCAG:C	donor_gain	0.3500
17:5184155:TAA:T	donor_loss	0.3500
17:5184156:AACT:A	donor_loss	0.3500
17:5184157:A:T	donor_loss	0.3500
17:5184158:C:CA	donor_loss	0.3500
17:5184159:T:TC	donor_gain	0.3500
17:5184159:TCACA:T	donor_loss	0.3500
17:5184160:C:CC	donor_gain	0.3500

AlphaMissense

5446 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:5182850:A:C	F469L	0.997
17:5182850:A:T	F469L	0.997
17:5182852:A:G	F469L	0.997
17:5182274:G:C	F661L	0.996
17:5182274:G:T	F661L	0.996
17:5182276:A:G	F661L	0.996
17:5182766:G:C	F497L	0.994
17:5182766:G:T	F497L	0.994
17:5182768:A:G	F497L	0.994
17:5183018:G:C	F413L	0.993
17:5183018:G:T	F413L	0.993
17:5183020:A:G	F413L	0.993
17:5182190:G:C	F689L	0.992
17:5182190:G:T	F689L	0.992
17:5182192:A:G	F689L	0.992
17:5182934:A:C	F441L	0.992
17:5182934:A:T	F441L	0.992
17:5182936:A:G	F441L	0.992
17:5182326:C:G	R644P	0.991
17:5183001:A:G	L419P	0.991
17:5182902:C:G	R452P	0.990
17:5182917:A:G	L447P	0.990
17:5182442:G:C	F605L	0.989
17:5182442:G:T	F605L	0.989
17:5182444:A:G	F605L	0.989
17:5182358:A:C	F633L	0.988
17:5182358:A:T	F633L	0.988
17:5182360:A:G	F633L	0.988
17:5182823:G:C	H478Q	0.988
17:5182823:G:T	H478Q	0.988

dbSNP variants (sampled 300 via entrez): RS1000264797 (17:5186237 G>A,C), RS1000471323 (17:5191959 C>T), RS1000574711 (17:5187326 A>G), RS1000605931 (17:5187080 T>A), RS1000719030 (17:5177197 T>A), RS1000767162 (17:5179550 T>A,C), RS1000837558 (17:5175434 A>T), RS1001002256 (17:5193752 A>G), RS1001038827 (17:5180609 G>C), RS1001074231 (17:5193312 C>A,T), RS1001088811 (17:5186488 C>T), RS1001137032 (17:5179860 A>G), RS1001361065 (17:5179571 A>G), RS1001370846 (17:5179280 G>A), RS1001494822 (17:5189103 A>G)

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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	decreases expression, affects expression, increases abundance	3
Valproic Acid	affects expression, increases expression	3
sodium arsenite	affects cotreatment, increases abundance, increases expression, decreases expression	2
Arsenic	affects methylation, affects cotreatment, increases abundance, increases expression	2
Cyclosporine	decreases expression, increases methylation	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	decreases expression	1
TAK-243	increases sumoylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	increases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
ferrous chloride	decreases expression	1
beta-methylcholine	affects expression	1
pentabromodiphenyl ether	decreases expression	1
Temozolomide	increases expression	1
Endosulfan	decreases expression	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Ozone	affects expression, increases abundance	1
Quercetin	decreases expression	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression, increases abundance	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Zinc	decreases expression	1

Clinical trials (associated diseases)

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