ZNF514

Summary

ZNF514 (zinc finger protein 514, HGNC:25894) is a protein-coding gene on chromosome 2q11.1, encoding Zinc finger protein 514 (Q96K75). 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 transcription by RNA polymerase II. Predicted to be active in nucleus.

Source: NCBI Gene 84874 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 72 total
• MANE Select transcript: NM_032788

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25894
Approved symbol	ZNF514
Name	zinc finger protein 514
Location	2q11.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ14457
Ensembl gene	ENSG00000144026
Ensembl biotype	protein_coding
Entrez	84874

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 17 protein_coding, 4 nonsense_mediated_decay, 1 retained_intron

ENST00000295208, ENST00000411425, ENST00000447814, ENST00000496060, ENST00000695481, ENST00000698720, ENST00000698721, ENST00000698722, ENST00000698723, ENST00000901743, ENST00000901744, ENST00000901745, ENST00000901746, ENST00000901747, ENST00000901748, ENST00000901749, ENST00000901750, ENST00000901751, ENST00000901752, ENST00000943833, ENST00000943834, ENST00000943835

RefSeq mRNA: 2 — MANE Select: NM_032788 NM_001318005, NM_032788

CCDS: CCDS2011

Canonical transcript exons

ENST00000295208 — 5 exons

Exon	Start	End
ENSE00001385923	95157351	95157439
ENSE00003517231	95153133	95153259
ENSE00003662449	95152674	95152769
ENSE00003974542	95159240	95159848
ENSE00003974551	95145000	95150267

Expression profiles

Bgee: expression breadth ubiquitous, 269 present calls, max score 93.02.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.9310 / max 39.0389, expressed in 1546 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
29692	3.7103	1515
29691	0.2207	76

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	93.02	silver quality
left ovary	UBERON:0002119	89.50	gold quality
right uterine tube	UBERON:0001302	89.33	gold quality
right ovary	UBERON:0002118	88.78	gold quality
calcaneal tendon	UBERON:0003701	87.87	gold quality
right lobe of thyroid gland	UBERON:0001119	87.75	gold quality
left lobe of thyroid gland	UBERON:0001120	87.54	gold quality
body of uterus	UBERON:0009853	87.48	gold quality
lower esophagus mucosa	UBERON:0035834	86.96	gold quality
thyroid gland	UBERON:0002046	86.93	gold quality
endocervix	UBERON:0000458	86.72	gold quality
ovary	UBERON:0000992	86.66	gold quality
metanephros cortex	UBERON:0010533	86.64	gold quality
apex of heart	UBERON:0002098	86.45	gold quality
adenohypophysis	UBERON:0002196	86.25	gold quality
tibia	UBERON:0000979	86.23	gold quality
tibial nerve	UBERON:0001323	86.10	gold quality
right hemisphere of cerebellum	UBERON:0014890	86.07	gold quality
tendon	UBERON:0000043	85.89	gold quality
vagina	UBERON:0000996	85.86	gold quality
muscle layer of sigmoid colon	UBERON:0035805	85.79	gold quality
ectocervix	UBERON:0012249	85.78	gold quality
lower esophagus muscularis layer	UBERON:0035833	85.75	gold quality
lower esophagus	UBERON:0013473	85.74	gold quality
cortical plate	UBERON:0005343	85.73	gold quality
pituitary gland	UBERON:0000007	85.70	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	85.62	gold quality
cerebellar hemisphere	UBERON:0002245	85.26	gold quality
body of pancreas	UBERON:0001150	85.18	gold quality
cerebellar cortex	UBERON:0002129	85.11	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-100618	no	402.01
E-ANND-3	no	5.16

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

122 targeting ZNF514, 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-7110-3P	100.00	73.18	2486
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-511-3P	99.99	68.85	1467
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-6077	99.99	68.04	2299
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-137-3P	99.87	74.74	2401

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), ZNF300 (ENSG00000145908), RBAK (ENSG00000146587), ZNF157 (ENSG00000147117), ZNF182 (ENSG00000147118), ZNF41 (ENSG00000147124), ZNF7 (ENSG00000147789), ZNF117 (ENSG00000152926), ZNF221 (ENSG00000159905), ZNF235 (ENSG00000159917), ZNF714 (ENSG00000160352), ZNF577 (ENSG00000161551), ZNF12 (ENSG00000164631), ZNF3 (ENSG00000166526)

Protein

Protein identifiers

Zinc finger protein 514 — Q96K75 (reviewed: Q96K75)

All UniProt accessions (2): Q96K75, C9K038

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 (2): NP_001304934, NP_116177* (*=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 (9 total): zinc finger region 7, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96K75-F1	66.32	0.27

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 71 (showing top): BLALOCK_ALZHEIMERS_DISEASE_UP, NAGASHIMA_NRG1_SIGNALING_DN, STEIN_ESRRA_TARGETS_DN, chr2q11, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, LU_EZH2_TARGETS_DN, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, BARX1_TARGET_GENES, DACH1_TARGET_GENES, DIDO1_TARGET_GENES, HES4_TARGET_GENES, HOXB6_TARGET_GENES, NFE2L1_TARGET_GENES, NKX2_3_TARGET_GENES, ZBTB18_TARGET_GENES

GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), 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
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	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
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

610 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF514	LRRC1	Q9BTT6	527
ZNF514	PRR22	Q8IZ63	479
ZNF514	A0A1W2PQS6	A0A1W2PQS6	476
ZNF514	FAHD2B	Q6P2I3	474
ZNF514	FAM178B	Q8IXR5	446
ZNF514	ANKRD39	Q53RE8	445
ZNF514	TERF2	Q15554	438
ZNF514	TIGD1	Q96MW7	418
ZNF514	FAHD2A	Q96GK7	414
ZNF514	MRPS5	P82675	400
ZNF514	OR52H1	Q8NGJ2	400
ZNF514	VWA3B	Q502W6	397
ZNF514	ANKRD36B	Q8N2N9	395
ZNF514	SLC27A6	Q9Y2P4	384
ZNF514	PROM2	Q8N271	381

IntAct

7 interactions, top by confidence:

A	B	Type	Score
SRPK1	ZNF514	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
ZNF514		psi-mi:“MI:0915”(physical association)	0.370
ZNF514	SRSF10	psi-mi:“MI:0914”(association)	0.350
ZNF180	UBR5	psi-mi:“MI:0914”(association)	0.350
ZNF514	CENPB	psi-mi:“MI:0914”(association)	0.350
CLU	ZNF514	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (22): GYS1 (Affinity Capture-MS), YBX1 (Affinity Capture-MS), CMBL (Affinity Capture-MS), TRA2B (Affinity Capture-MS), TP53 (Affinity Capture-MS), HIST1H2BJ (Affinity Capture-MS), TRIM28 (Affinity Capture-MS), SAFB2 (Affinity Capture-MS), H2AFX (Affinity Capture-MS), PRMT1 (Affinity Capture-MS), SRSF10 (Affinity Capture-MS), TRA2A (Affinity Capture-MS), USP34 (Affinity Capture-MS), CENPB (Affinity Capture-MS), ZNF430 (Affinity Capture-MS)

ESM2 similar proteins: A0A087WUV0, A0JNB1, A2VDP4, B2RUI1, P0CG31, P10072, P17025, P17036, P17097, P18733, P51814, Q08ER8, Q09FC8, Q0VGE8, Q14590, Q15937, Q16600, Q2M3X9, Q4V8A8, Q5CZA5, Q5R8G9, Q5RBX0, Q5VIY5, Q68DI1, Q6J6I6, Q6NX49, Q6P1L6, Q6PG37, Q6ZMS4, Q6ZMW2, Q80YP6, Q86UD4, Q86Y25, Q8IZ26, Q8N184, Q8NB42, Q8NEK5, Q8TAF7, Q8TF47, Q8WXB4

Diamond homologs: A0A087WUV0, Q96K75, Q99676, Q9HBT8, Q9UJL9, Q9UJN7, A0JPL0, A1L1L7, A2A761, A2VDP4, A3KN36, A6QLU5, A6QPT6, A7MBI1, A8MT65, B2RXC5, E9PYI1, E9Q8G5, O75290, O94892, O95780, P10076, P17014, P17023, P17025, P17030, P17032, P17098, P51523, P51814, P52736, P52742, P58317, Q02975, Q06730, Q06732, Q08DG8, Q0VCB0, Q13360, Q14584

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	61
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1199 predictions. Top by Δscore:

Variant	Effect	Δscore
2:95150265:AGTC:A	acceptor_loss	1.0000
2:95150267:TC:T	acceptor_loss	1.0000
2:95152673:C:A	donor_loss	1.0000
2:95153127:GCTCA:G	donor_loss	1.0000
2:95153128:CTCA:C	donor_loss	1.0000
2:95153129:TCACC:T	donor_loss	1.0000
2:95153130:CA:C	donor_loss	1.0000
2:95153131:A:AC	donor_gain	1.0000
2:95153131:A:C	donor_loss	1.0000
2:95153131:AC:A	donor_gain	1.0000
2:95153132:C:CC	donor_gain	1.0000
2:95153132:C:CG	donor_loss	1.0000
2:95153132:CC:C	donor_gain	1.0000
2:95153148:T:TA	donor_gain	1.0000
2:95153172:C:A	donor_gain	1.0000
2:95153255:AGGTC:A	acceptor_gain	1.0000
2:95153256:GGTC:G	acceptor_gain	1.0000
2:95153257:GTC:G	acceptor_gain	1.0000
2:95153258:TC:T	acceptor_gain	1.0000
2:95153258:TCCT:T	acceptor_loss	1.0000
2:95153259:CC:C	acceptor_gain	1.0000
2:95153260:C:CC	acceptor_gain	1.0000
2:95153260:CTGA:C	acceptor_loss	1.0000
2:95153261:T:A	acceptor_loss	1.0000
2:95150263:CCAGT:C	acceptor_gain	0.9900
2:95150264:CAGTC:C	acceptor_gain	0.9900
2:95150266:GT:G	acceptor_gain	0.9900
2:95150268:C:CC	acceptor_gain	0.9900
2:95150269:T:C	acceptor_loss	0.9900
2:95150271:T:C	acceptor_gain	0.9900

AlphaMissense

2640 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:95149594:A:C	F297L	0.998
2:95149594:A:T	F297L	0.998
2:95149596:A:G	F297L	0.998
2:95149678:G:C	F269L	0.998
2:95149678:G:T	F269L	0.998
2:95149680:A:G	F269L	0.998
2:95149342:A:C	F381L	0.997
2:95149342:A:T	F381L	0.997
2:95149344:A:G	F381L	0.997
2:95149426:G:C	F353L	0.997
2:95149426:G:T	F353L	0.997
2:95149428:A:G	F353L	0.997
2:95149510:G:C	F325L	0.997
2:95149510:G:T	F325L	0.997
2:95149512:A:G	F325L	0.997
2:95149762:A:C	F241L	0.997
2:95149762:A:T	F241L	0.997
2:95149764:A:G	F241L	0.997
2:95149733:T:G	Q251P	0.993
2:95149409:A:G	L359P	0.992
2:95149565:T:G	Q307P	0.992
2:95149567:A:C	H306Q	0.992
2:95149567:A:T	H306Q	0.992
2:95149399:A:C	H362Q	0.991
2:95149399:A:T	H362Q	0.991
2:95149493:A:G	L331P	0.991
2:95149577:A:G	L303P	0.991
2:95149387:G:C	H366Q	0.989
2:95149387:G:T	H366Q	0.989
2:95149639:G:C	H282Q	0.989

dbSNP variants (sampled 300 via entrez): RS1000146057 (2:95122835 C>T), RS1000244642 (2:95155946 G>T), RS1000439063 (2:95148712 C>T), RS1000534061 (2:95148995 C>T), RS1000621113 (2:95134461 G>T), RS1000668621 (2:95128390 C>A,T), RS1000758278 (2:95134748 T>C,G), RS1000785960 (2:95156324 T>C), RS1000853159 (2:95135116 A>G), RS1000966660 (2:95127888 C>A,T), RS1001003998 (2:95141797 G>A), RS1001271410 (2:95127655 T>C), RS1001289769 (2:95137741 A>C,G), RS1001412977 (2:95145674 T>C), RS1001425129 (2:95138071 G>A)

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

35 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, increases expression	4
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Cyclosporine	decreases expression	2
Cadmium Chloride	decreases expression	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
TAK-243	increases sumoylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases methylation	1
trichostatin A	increases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
2-palmitoylglycerol	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	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
Leflunomide	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	decreases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Nickel	decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_XW55	HEK293 eGFP-ZNF514	Transformed cell line	Female

Clinical trials (associated diseases)

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