ZNF507

Summary

ZNF507 (zinc finger protein 507, HGNC:23783) is a protein-coding gene on chromosome 19q13.11, encoding Zinc finger protein 507 (Q8TCN5). May be involved in transcriptional regulation.

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

Source: NCBI Gene 22847 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 150 total — 1 pathogenic
• MANE Select transcript: NM_001136156

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23783
Approved symbol	ZNF507
Name	zinc finger protein 507
Location	19q13.11
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1084, Zfp507
Ensembl gene	ENSG00000168813
Ensembl biotype	protein_coding
OMIM	620567
Entrez	22847

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 2 retained_intron

ENST00000311921, ENST00000355898, ENST00000544431, ENST00000586664, ENST00000587084, ENST00000917583, ENST00000917584, ENST00000917585

RefSeq mRNA: 2 — MANE Select: NM_001136156 NM_001136156, NM_014910

CCDS: CCDS32985

Canonical transcript exons

ENST00000355898 — 7 exons

Exon	Start	End
ENSE00001185524	32382467	32382601
ENSE00001185529	32360504	32360618
ENSE00001185554	32382717	32387667
ENSE00001325909	32356616	32356733
ENSE00001419053	32347245	32347338
ENSE00002859511	32345610	32345783
ENSE00003695352	32352829	32354957

Expression profiles

Bgee: expression breadth ubiquitous, 267 present calls, max score 91.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.7758 / max 110.6103, expressed in 1643 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
175048	10.7065	1643
175047	0.0693	12

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	91.97	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	87.29	gold quality
corpus callosum	UBERON:0002336	86.91	gold quality
palpebral conjunctiva	UBERON:0001812	86.72	gold quality
sperm	CL:0000019	86.67	gold quality
calcaneal tendon	UBERON:0003701	86.67	gold quality
secondary oocyte	CL:0000655	86.23	gold quality
eye	UBERON:0000970	86.23	gold quality
epithelium of nasopharynx	UBERON:0001951	85.51	gold quality
nasopharynx	UBERON:0001728	85.49	gold quality
Brodmann (1909) area 23	UBERON:0013554	85.17	gold quality
mucosa of paranasal sinus	UBERON:0005030	85.14	gold quality
pigmented layer of retina	UBERON:0001782	84.78	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.76	gold quality
retina	UBERON:0000966	84.76	gold quality
seminal vesicle	UBERON:0000998	84.69	gold quality
parietal pleura	UBERON:0002400	84.60	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.59	gold quality
gingival epithelium	UBERON:0001949	84.45	gold quality
tibia	UBERON:0000979	84.38	gold quality
germinal epithelium of ovary	UBERON:0001304	83.89	gold quality
tonsil	UBERON:0002372	83.89	gold quality
jejunal mucosa	UBERON:0000399	83.78	gold quality
ventricular zone	UBERON:0003053	83.62	gold quality
middle temporal gyrus	UBERON:0002771	83.57	gold quality
male germ cell	CL:0000015	83.55	gold quality
pleura	UBERON:0000977	83.51	gold quality
esophagus squamous epithelium	UBERON:0006920	83.31	gold quality
parotid gland	UBERON:0001831	83.19	gold quality
medial globus pallidus	UBERON:0002477	83.19	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-75367	no	170.23
E-ANND-3	no	6.07

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GATA3

miRNA regulators (miRDB)

168 targeting ZNF507, 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-5692A	100.00	74.40	6850
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3064-3P	100.00	70.09	1254
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-5196-5P	100.00	67.98	2761
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345

Literature-anchored findings (GeneRIF, showing 2)

• ZNF507 affects TGF-beta signaling via TGFBR1 and MAP3K8 activation in the progression of prostate cancer to an aggressive state. (PMID:34537073)
• ZNF146/OZF and ZNF507 target LINE-1 sequences. (PMID:35100360)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf507	ENSDARG00000052164
mus_musculus	Zfp507	ENSMUSG00000044452
rattus_norvegicus	Zfp507	ENSRNOG00000013565

Paralogs (51): WIZ (ENSG00000011451), ZNF416 (ENSG00000083817), MYNN (ENSG00000085274), PRDM4 (ENSG00000110851), PRDM2 (ENSG00000116731), ZBTB17 (ENSG00000116809), ZNF644 (ENSG00000122482), GZF1 (ENSG00000125812), ZNF426 (ENSG00000130818), ZNF287 (ENSG00000141040), ZNF697 (ENSG00000143067), ZNF687 (ENSG00000143373), ZNF214 (ENSG00000149050), ZNF547 (ENSG00000152433), ZNF776 (ENSG00000152443), ZNF230 (ENSG00000159882), ZNF222 (ENSG00000159885), ZNF233 (ENSG00000159915), ZNF333 (ENSG00000160961), ZNF319 (ENSG00000166188), ZNF592 (ENSG00000166716), ZNF646 (ENSG00000167395), ZNF768 (ENSG00000169957), ZNF417 (ENSG00000173480), ZNF408 (ENSG00000175213), ZBTB41 (ENSG00000177888), ZNF223 (ENSG00000178386), ZNF852 (ENSG00000178917), ZNF784 (ENSG00000179922), ZNF572 (ENSG00000180938), ZNF707 (ENSG00000181135), ZNF746 (ENSG00000181220), ZNF467 (ENSG00000181444), ZNF530 (ENSG00000183647), ZNF17 (ENSG00000186272), ZNF527 (ENSG00000189164), ZKSCAN7 (ENSG00000196345), ZNF34 (ENSG00000196378), ZNF774 (ENSG00000196391), ZNF777 (ENSG00000196453)

Protein

Protein identifiers

Zinc finger protein 507 — Q8TCN5 (reviewed: Q8TCN5)

All UniProt accessions (2): Q8TCN5, B9EGE7

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.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8TCN5-1	1	yes
Q8TCN5-2	2

RefSeq proteins (2): NP_001129628, NP_055725 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR050688	Zinc_finger/UBP_domain	Family

Pfam: PF00096

UniProt features (21 total): zinc finger region 9, sequence conflict 4, region of interest 2, modified residue 2, splice variant 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TCN5-F1	51.87	0.00

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 95, 427

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 106 (showing top): KYNG_ENVIRONMENTAL_STRESS_RESPONSE_NOT_BY_GAMMA_IN_WS, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, KYNG_ENVIRONMENTAL_STRESS_RESPONSE_NOT_BY_UV_IN_OLD, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_UP, KYNG_ENVIRONMENTAL_STRESS_RESPONSE_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, KYNG_ENVIRONMENTAL_STRESS_RESPONSE_NOT_BY_UV_IN_WS, KYNG_ENVIRONMENTAL_STRESS_RESPONSE_NOT_BY_GAMMA_IN_OLD, GCM_RAB10, NOTCH_DN.V1_UP, OISHI_CHOLANGIOMA_STEM_CELL_LIKE_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, CIITA_TARGET_GENES, DIDO1_TARGET_GENES, GLI1_TARGET_GENES

GO Biological Process (1): positive regulation of transcription by RNA polymerase II (GO:0045944)

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

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

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

Protein interactions and networks

STRING

1122 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF507	PAQR9	Q6ZVX9	538
ZNF507	LHFPL4	Q7Z7J7	493
ZNF507	INTS5	Q6P9B9	462
ZNF507	AGAP3	Q96P47	459
ZNF507	DNAJC11	Q9NVH1	459
ZNF507	RNF152	Q8N8N0	455
ZNF507	ZSWIM3	Q96MP5	449
ZNF507	CHD3	Q12873	449
ZNF507	GET4	Q7L5D6	447
ZNF507	RASGEF1C	Q8N431	415
ZNF507	KLF14	Q8TD94	404
ZNF507	TSPYL5	Q86VY4	402
ZNF507	SENP6	Q9GZR1	400
ZNF507	ONECUT2	O95948	396
ZNF507	TATDN3	Q17R31	370

IntAct

50 interactions, top by confidence:

A	B	Type	Score
LMO1	ZBTB43	psi-mi:“MI:0914”(association)	0.830
SUN1	TYW5	psi-mi:“MI:0914”(association)	0.530
SKP2	DPYSL4	psi-mi:“MI:0914”(association)	0.530
PLA2G10	CHEK1	psi-mi:“MI:0914”(association)	0.530
RASL10B	AHCYL1	psi-mi:“MI:0914”(association)	0.530
GDF10	LRP4	psi-mi:“MI:0914”(association)	0.530
HSPB9	USP12	psi-mi:“MI:0914”(association)	0.530
AMMECR1	HNRNPF	psi-mi:“MI:0914”(association)	0.530
FSCN2	QRICH1	psi-mi:“MI:0914”(association)	0.530
FAM200C	CRLF3	psi-mi:“MI:0914”(association)	0.530
SCPEP1	ZNF507	psi-mi:“MI:0915”(physical association)	0.400
Sidt2	PRSS1	psi-mi:“MI:0914”(association)	0.350
RIPK4	VWA8	psi-mi:“MI:0914”(association)	0.350
PB1	ESYT2	psi-mi:“MI:0914”(association)	0.350
PB2	ESYT2	psi-mi:“MI:0914”(association)	0.350
PB2	IPO5	psi-mi:“MI:0914”(association)	0.350
OLFM2	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
LHX6	KDM5C	psi-mi:“MI:0914”(association)	0.350
RFPL2	BACH1	psi-mi:“MI:0914”(association)	0.350
PAPLN	PKM	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
S100B	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
PRKY	METTL15	psi-mi:“MI:0914”(association)	0.350

BioGRID (74): ZNF507 (Affinity Capture-MS), ZNF507 (Affinity Capture-MS), ZNF507 (Affinity Capture-MS), ZNF507 (Affinity Capture-MS), ZNF507 (Affinity Capture-MS), ZNF507 (Affinity Capture-MS), ZNF507 (Affinity Capture-MS), ZNF507 (Affinity Capture-MS), ZNF507 (Affinity Capture-MS), ZNF507 (Affinity Capture-MS), ZNF507 (Affinity Capture-MS), ZNF507 (Affinity Capture-MS), ZNF507 (Affinity Capture-MS), ZNF507 (Affinity Capture-MS), ZNF507 (Affinity Capture-MS)

ESM2 similar proteins: A0A5K7RLP0, A1YEX3, A7YWH3, B1WBU4, O15151, O35618, O43298, O88850, P24278, P97303, Q01954, Q0V8G8, Q15916, Q17RG1, Q562E2, Q5RC05, Q5RDQ6, Q5SXH7, Q5TC79, Q5VYS8, Q5W0Q7, Q5XIN1, Q6ZPY5, Q6ZSB9, Q6ZU67, Q7ZUW7, Q7ZYI3, Q8BLK9, Q8BSV3, Q8IW35, Q8K088, Q8N680, Q8N7W2, Q8TCN5, Q8VHI4, Q8WW38, Q90W33, Q96BR9, Q96S38, Q99ME3

Diamond homologs: Q5RDQ6, Q6ZPY5, Q8TCN5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	126
Likely benign	7
Benign	3

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3571475	Single allele	Pathogenic

SpliceAI

1436 predictions. Top by Δscore:

Variant	Effect	Δscore
19:32356730:G:GT	donor_gain	1.0000
19:32356731:A:T	donor_gain	1.0000
19:32360615:ACAGG:A	donor_loss	1.0000
19:32360616:CAGG:C	donor_loss	1.0000
19:32360617:AGGTA:A	donor_loss	1.0000
19:32360618:GGTAA:G	donor_loss	1.0000
19:32360619:GTA:G	donor_loss	1.0000
19:32360620:T:G	donor_loss	1.0000
19:32382596:TGGC:T	donor_gain	1.0000
19:32382715:A:G	acceptor_gain	1.0000
19:32345779:CGCAG:C	donor_loss	0.9900
19:32345781:CAGG:C	donor_loss	0.9900
19:32345782:AGG:A	donor_loss	0.9900
19:32345783:GGT:G	donor_loss	0.9900
19:32345784:GT:G	donor_loss	0.9900
19:32345785:T:G	donor_loss	0.9900
19:32347236:T:TA	acceptor_gain	0.9900
19:32356614:A:AG	acceptor_gain	0.9900
19:32356615:G:GG	acceptor_gain	0.9900
19:32356615:GA:G	acceptor_gain	0.9900
19:32356729:GGAAG:G	donor_gain	0.9900
19:32360619:G:GG	donor_gain	0.9900
19:32380552:T:G	acceptor_gain	0.9900
19:32382465:A:AG	acceptor_gain	0.9900
19:32382466:G:GG	acceptor_gain	0.9900
19:32382597:GGCA:G	donor_gain	0.9900
19:32382598:GCAG:G	donor_gain	0.9900
19:32382599:CAG:C	donor_loss	0.9900
19:32382600:AG:A	donor_loss	0.9900
19:32382601:GG:G	donor_loss	0.9900

AlphaMissense

6329 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:32353578:T:C	C250R	1.000
19:32353618:T:C	L263S	1.000
19:32353618:T:G	L263W	1.000
19:32353626:C:G	H266D	1.000
19:32353628:C:A	H266Q	1.000
19:32353628:C:G	H266Q	1.000
19:32353630:C:A	A267D	1.000
19:32354317:C:A	A496D	1.000
19:32382468:T:C	C788R	1.000
19:32382477:T:C	C791R	1.000
19:32382478:G:A	C791Y	1.000
19:32382508:T:C	L801S	1.000
19:32382516:C:G	H804D	1.000
19:32382518:T:A	H804Q	1.000
19:32382518:T:G	H804Q	1.000
19:32352982:T:C	L51S	0.999
19:32353209:T:C	C127R	0.999
19:32353545:T:A	W239R	0.999
19:32353545:T:C	W239R	0.999
19:32353547:G:C	W239C	0.999
19:32353547:G:T	W239C	0.999
19:32353578:T:A	C250S	0.999
19:32353579:G:C	C250S	0.999
19:32353580:C:G	C250W	0.999
19:32353587:T:C	C253R	0.999
19:32353588:G:A	C253Y	0.999
19:32353589:T:G	C253W	0.999
19:32353622:A:C	K264N	0.999
19:32353622:A:T	K264N	0.999
19:32353626:C:A	H266N	0.999

dbSNP variants (sampled 300 via entrez): RS1000013606 (19:32386883 G>A,T), RS1000066369 (19:32361226 G>A), RS1000222294 (19:32345280 A>AG), RS1000310411 (19:32380364 A>G), RS1000373598 (19:32374346 A>C,T), RS1000468091 (19:32344481 T>G), RS1000554872 (19:32378173 C>G,T), RS1000644840 (19:32369953 T>C), RS1000664976 (19:32372532 C>G), RS1000707116 (19:32375826 C>G), RS1000858002 (19:32349973 T>A,C), RS1000890634 (19:32350334 A>G,T), RS1001036052 (19:32363180 T>C,G), RS1001069236 (19:32359403 C>G), RS1001109592 (19:32363526 G>A)

Disease associations

OMIM: gene MIM:620567 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST003116_8	Coronary artery disease	1.000000e-14
GCST005232_15	Neuroticism	1.000000e-08
GCST006666_18	Lipid traits (pleiotropy) (HIPO component 1)	8.000000e-09
GCST006947_32	Feeling fed-up	4.000000e-11
GCST007155_2	Household income	3.000000e-08
GCST010206_9	Anorectal malformation	3.000000e-13
GCST010988_22	Adult body size	9.000000e-09

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0007660	neuroticism measurement
EFO:0004530	triglyceride measurement
EFO:0004574	total cholesterol measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0009588	feeling “fed-up” measurement
EFO:0009695	household income

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	3
Valproic Acid	increases expression, increases methylation, decreases expression	2
aristolochic acid I	decreases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	decreases phosphorylation	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
butyraldehyde	decreases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
cupric oxide	increases expression	1
pentanal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
Leflunomide	increases expression	1
Acetaminophen	decreases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Caffeine	affects phosphorylation	1
Cisplatin	decreases expression	1
Doxorubicin	decreases expression	1
Formaldehyde	decreases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Antirheumatic Agents	increases expression	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_XW97	K562 eGFP-ZNF507	Cancer cell line	Female

Clinical trials (associated diseases)

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