ZNF510

Summary

ZNF510 (zinc finger protein 510, HGNC:29161) is a protein-coding gene on chromosome 9q22.33, encoding Zinc finger protein 510 (Q9Y2H8). May be involved in transcriptional regulation.

This gene encodes a krueppel C2H2-type zinc-finger protein family member. The encoded protein is expressed in several cancer cell types and may be a biomarker for early diagnosis of these cancers.

Source: NCBI Gene 22869 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 103 total
• MANE Select transcript: NM_014930

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29161
Approved symbol	ZNF510
Name	zinc finger protein 510
Location	9q22.33
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0972
Ensembl gene	ENSG00000081386
Ensembl biotype	protein_coding
OMIM	619385
Entrez	22869

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 10 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000223428, ENST00000374641, ENST00000375231, ENST00000472201, ENST00000896876, ENST00000896877, ENST00000896878, ENST00000896879, ENST00000930607, ENST00000930608, ENST00000954372, ENST00000954373

RefSeq mRNA: 3 — MANE Select: NM_014930 NM_001314059, NM_001314060, NM_014930

CCDS: CCDS35074

Canonical transcript exons

ENST00000223428 — 6 exons

Exon	Start	End
ENSE00000713151	96763118	96763213
ENSE00000895705	96774788	96774846
ENSE00001668603	96778034	96778087
ENSE00001736675	96763506	96763632
ENSE00003909249	96776000	96776245
ENSE00003911760	96754553	96760477

Expression profiles

Bgee: expression breadth ubiquitous, 220 present calls, max score 86.24.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.0250 / max 74.8246, expressed in 1662 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
101606	7.0250	1662

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ganglionic eminence	UBERON:0004023	86.24	gold quality
cortical plate	UBERON:0005343	85.71	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.23	gold quality
calcaneal tendon	UBERON:0003701	82.37	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.98	gold quality
ventricular zone	UBERON:0003053	81.65	gold quality
islet of Langerhans	UBERON:0000006	80.81	gold quality
adrenal tissue	UBERON:0018303	80.69	gold quality
colonic epithelium	UBERON:0000397	78.85	gold quality
cerebellar hemisphere	UBERON:0002245	78.05	gold quality
cerebellar cortex	UBERON:0002129	77.99	gold quality
prefrontal cortex	UBERON:0000451	77.80	gold quality
tibialis anterior	UBERON:0001385	77.60	silver quality
pancreas	UBERON:0001264	77.54	gold quality
stromal cell of endometrium	CL:0002255	77.53	gold quality
tendon	UBERON:0000043	77.51	gold quality
right hemisphere of cerebellum	UBERON:0014890	77.17	gold quality
cerebellum	UBERON:0002037	76.86	gold quality
body of pancreas	UBERON:0001150	76.52	gold quality
gastrocnemius	UBERON:0001388	76.50	gold quality
muscle of leg	UBERON:0001383	76.48	gold quality
rectum	UBERON:0001052	76.47	gold quality
primary visual cortex	UBERON:0002436	76.38	gold quality
middle temporal gyrus	UBERON:0002771	76.29	silver quality
secondary oocyte	CL:0000655	76.15	gold quality
embryo	UBERON:0000922	75.86	gold quality
endothelial cell	CL:0000115	75.73	silver quality
Brodmann (1909) area 23	UBERON:0013554	75.61	gold quality
right frontal lobe	UBERON:0002810	75.56	gold quality
neocortex	UBERON:0001950	75.24	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.05

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA2556.1	ZNF510	Factors with multiple dispersed zinc fingers

JASPAR matrix evidence (PMIDs): PMID:39605320

Upstream regulators (CollecTRI, top): STAT1

miRNA regulators (miRDB)

128 targeting ZNF510, 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-6873-3P	100.00	71.42	2626
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-4776-3P	100.00	68.73	1340
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-3662	99.99	73.82	5684
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-4493	99.90	66.48	977

Literature-anchored findings (GeneRIF, showing 2)

• The present results suggest that the genomic region containing the ZNP510 and ZNP782 genes is an ethnic specific locus associated with stature variation in Chinese. (PMID:19030899)
• Identifying 24-mer ZNF510 peptide as oral squamous cell carcinoma -related salivary biomarkers via proteomic approach proved useful in adjunct diagnosis for early detection rather than specific diagnosis marker for progression of OSCC patients (PMID:21497587)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Zfp819	ENSMUSG00000055102

Paralogs (176): ZNF195 (ENSG00000005801), ZNF112 (ENSG00000062370), ZNF275 (ENSG00000063587), ZNF37A (ENSG00000075407), 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), ZNF3 (ENSG00000166526)

Protein

Protein identifiers

Zinc finger protein 510 — Q9Y2H8 (reviewed: Q9Y2H8)

All UniProt accessions (1): Q9Y2H8

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 (3): NP_001300988, NP_001300989, NP_055745* (*=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 (18 total): zinc finger region 10, sequence variant 6, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2H8-F1	56.99	0.04

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 60 (showing top): DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, chr9q22, VERHAAK_GLIOBLASTOMA_PRONEURAL, ZWANG_DOWN_BY_2ND_EGF_PULSE, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, FOXJ2_TARGET_GENES, HAND1_TARGET_GENES, ZNF282_TARGET_GENES, ZNF592_TARGET_GENES, MIR3662, MIR651_3P, MIR4703_5P, MIR3124_3P, MIR3942_5P, MIR361_5P

GO Biological Process (4): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355), regulation of macromolecule metabolic process (GO:0060255), regulation of primary metabolic process (GO:0080090)

GO Molecular Function (4): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA binding (GO:0003677), zinc ion binding (GO:0008270), 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
regulation of metabolic process	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
macromolecule metabolic process	1
primary metabolic process	1
chromatin	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
nucleic acid binding	1
transition metal ion binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

594 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF510	J3QRE1	J3QRE1	480
ZNF510	NUTM2G	Q5VZR2	472
ZNF510	NUTM2F	A1L443	447
ZNF510	PRXL2C	Q7RTV5	422
ZNF510	KAT8	Q9H7Z6	418
ZNF510	TMEM131	Q92545	413
ZNF510	NKAPL	Q5M9Q1	405
ZNF510	NAPEPLD	Q6IQ20	370
ZNF510	GPANK1	O95872	348
ZNF510	GPR157	Q5UAW9	322
ZNF510	A0A096LNH4	A0A096LNH4	321
ZNF510	ZMYM6	O95789	316
ZNF510	CNN3	Q15417	314
ZNF510	SYT15	Q9BQS2	311
ZNF510	PGBD1	Q96JS3	302

IntAct

23 interactions, top by confidence:

A	B	Type	Score
ZNF510	SMAD1	psi-mi:“MI:0915”(physical association)	0.370
ZNF510	APC	psi-mi:“MI:0915”(physical association)	0.370
AURKA	ZNF510	psi-mi:“MI:0915”(physical association)	0.370
ZNF510	BRAF	psi-mi:“MI:0915”(physical association)	0.370
BUB1	ZNF510	psi-mi:“MI:0915”(physical association)	0.370
CCND1	ZNF510	psi-mi:“MI:0915”(physical association)	0.370
CDH1	ZNF510	psi-mi:“MI:0915”(physical association)	0.370
ZNF510	CTNNA1	psi-mi:“MI:0915”(physical association)	0.370
DLC1	ZNF510	psi-mi:“MI:0915”(physical association)	0.370
ZNF510	EGFR	psi-mi:“MI:0915”(physical association)	0.370
FBXW7	ZNF510	psi-mi:“MI:0915”(physical association)	0.370
MLH3	ZNF510	psi-mi:“MI:0915”(physical association)	0.370
MSH2	ZNF510	psi-mi:“MI:0915”(physical association)	0.370
ZNF510	ODC1	psi-mi:“MI:0915”(physical association)	0.370
ZNF510	PDGFRL	psi-mi:“MI:0915”(physical association)	0.370
ZNF510	PTPN12	psi-mi:“MI:0915”(physical association)	0.370
ZNF510	PTPRJ	psi-mi:“MI:0915”(physical association)	0.370
ZNF510	SMAD2	psi-mi:“MI:0915”(physical association)	0.370
SMAD4	ZNF510	psi-mi:“MI:0915”(physical association)	0.370
ZNF510	STK11	psi-mi:“MI:0915”(physical association)	0.370
TGFBR2	ZNF510	psi-mi:“MI:0915”(physical association)	0.370
GABARAP		psi-mi:“MI:0914”(association)	0.350
CDK11A	PRPF40A	psi-mi:“MI:0914”(association)	0.350

BioGRID (24): ZNF510 (Synthetic Lethality), ZNF510 (Two-hybrid), ZNF510 (Two-hybrid), ZNF510 (Two-hybrid), ZNF510 (Two-hybrid), ZNF510 (Two-hybrid), ZNF510 (Two-hybrid), ZNF510 (Two-hybrid), ZNF510 (Two-hybrid), ZNF510 (Two-hybrid), ZNF510 (Two-hybrid), ZNF510 (Two-hybrid), ZNF510 (Two-hybrid), ZNF510 (Two-hybrid), ZNF510 (Two-hybrid)

ESM2 similar proteins: A0JPL0, A6NK53, E7ETH6, E9Q8G5, O14628, P21506, P51508, Q09FC8, Q13360, Q2M218, Q2M3X9, Q2VY69, Q3KQV3, Q3SY52, Q4R882, Q5HY98, Q5REN4, Q5RES8, Q68DI1, Q6NX49, Q6P280, Q6PG37, Q6V9R5, Q6ZMW2, Q7Z340, Q86XU0, Q8IYI8, Q8N587, Q8N720, Q8N859, Q8NB42, Q8NDW4, Q8NEK5, Q8WXB4, Q96MR9, Q96MU6, Q96NG8, Q96NJ3, Q96SR6, Q9BR84

Diamond homologs: A0A1W2PQL4, A0JNB1, A0JPL0, A6NK53, A6QLU5, A6QPT6, A7MBI1, A8MT65, A8MUV8, A8MWA4, B2RXC5, B4DU55, B4DX44, E9PYI1, O14628, O75346, P0CH99, P0CI00, P17014, P17030, P17032, P17098, P51786, P85977, Q02386, Q06730, Q06732, Q0VAW7, Q12901, Q13360, Q14586, Q14588, Q14590, Q16587, Q2M3X9, Q2VY69, Q32M78, Q3ZCX4, Q49AA0, Q4R6J4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 24 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Deubiquitination	5	27.0×	1e-04
Diseases of signal transduction by growth factor receptors and second messengers	5	12.3×	1e-03
Cell Cycle	5	7.8×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
DNA damage response	5	11.6×	3e-03
negative regulation of cell population proliferation	6	11.0×	1e-03
cell division	5	10.0×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	88
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

917 predictions. Top by Δscore:

Variant	Effect	Δscore
9:96760475:CTT:C	acceptor_gain	1.0000
9:96760478:C:CC	acceptor_gain	1.0000
9:96763116:A:AC	donor_gain	1.0000
9:96763117:C:CC	donor_gain	1.0000
9:96763504:A:AC	donor_gain	1.0000
9:96763504:ACC:A	donor_gain	1.0000
9:96763505:C:CC	donor_gain	1.0000
9:96763505:CCC:C	donor_gain	1.0000
9:96763505:CCCA:C	donor_gain	1.0000
9:96760473:ATCTT:A	acceptor_gain	0.9900
9:96760474:TCTTC:T	acceptor_gain	0.9900
9:96760475:CTTCT:C	acceptor_gain	0.9900
9:96763111:AACT:A	donor_loss	0.9900
9:96763112:ACTC:A	donor_loss	0.9900
9:96763113:CTC:C	donor_loss	0.9900
9:96763114:TCA:T	donor_loss	0.9900
9:96763115:CAC:C	donor_loss	0.9900
9:96763117:CTTG:C	donor_gain	0.9900
9:96763117:CTTGG:C	donor_gain	0.9900
9:96763212:CC:C	acceptor_gain	0.9900
9:96763213:CC:C	acceptor_gain	0.9900
9:96763500:GCTT:G	donor_loss	0.9900
9:96763502:TTA:T	donor_loss	0.9900
9:96763503:TA:T	donor_loss	0.9900
9:96763504:A:AT	donor_loss	0.9900
9:96763504:AC:A	donor_gain	0.9900
9:96763505:CC:C	donor_gain	0.9900
9:96763508:A:AC	donor_gain	0.9900
9:96763509:C:CC	donor_gain	0.9900
9:96760476:TT:T	acceptor_gain	0.9800

AlphaMissense

4602 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:96759003:A:C	F609L	0.999
9:96759003:A:T	F609L	0.999
9:96759005:A:G	F609L	0.999
9:96759087:A:C	F581L	0.999
9:96759087:A:T	F581L	0.999
9:96759089:A:G	F581L	0.999
9:96759062:G:C	H590D	0.998
9:96759339:A:C	F497L	0.998
9:96759339:A:T	F497L	0.998
9:96759341:A:G	F497L	0.998
9:96759423:A:C	F469L	0.998
9:96759423:A:T	F469L	0.998
9:96759425:A:G	F469L	0.998
9:96759507:G:C	F441L	0.998
9:96759507:G:T	F441L	0.998
9:96759509:A:G	F441L	0.998
9:96758976:A:C	H618Q	0.997
9:96758976:A:T	H618Q	0.997
9:96759058:T:G	Q591P	0.997
9:96759070:A:G	L587P	0.997
9:96759060:A:C	H590Q	0.996
9:96759060:A:T	H590Q	0.996
9:96759171:G:C	F553L	0.996
9:96759171:G:T	F553L	0.996
9:96759173:A:G	F553L	0.996
9:96759255:A:C	F525L	0.996
9:96759255:A:T	F525L	0.996
9:96759257:A:G	F525L	0.996
9:96759591:G:C	F413L	0.996
9:96759591:G:T	F413L	0.996

dbSNP variants (sampled 300 via entrez): RS1000060708 (9:96754154 T>G), RS1000114908 (9:96778507 G>A), RS1000117587 (9:96757727 T>C), RS1000130902 (9:96760224 A>G,T), RS1000134114 (9:96766809 T>TAGG), RS1000167004 (9:96766551 T>C,G), RS1000378402 (9:96773757 G>C), RS1000431625 (9:96772464 C>A), RS1000464165 (9:96758644 G>A,T), RS1000491860 (9:96767035 A>G), RS1000538138 (9:96754398 C>A,T), RS1000715102 (9:96772277 C>A,G), RS1000776775 (9:96765833 C>T), RS1000790698 (9:96760661 G>A), RS1000844135 (9:96767257 G>A)

Disease associations

OMIM: gene MIM:619385 | 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

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, decreases methylation	8
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
testosterone enanthate	affects expression	1
triphenyl phosphate	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Atrazine	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Doxorubicin	decreases expression	1
Gallic Acid	decreases expression	1
Hydrogen Peroxide	affects cotreatment, increases expression	1
Ozone	affects expression, increases abundance	1
Theophylline	affects cotreatment, increases expression	1
Vanadates	decreases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases methylation	1
Okadaic Acid	decreases expression	1
Acrylamide	increases 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_XW54	HEK293 eGFP-ZNF510	Transformed cell line	Female

Clinical trials (associated diseases)

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