ZNF80

Summary

ZNF80 (zinc finger protein 80, HGNC:13155) is a protein-coding gene on chromosome 3q13.31, encoding Zinc finger protein 80 (P51504). May be involved in transcriptional regulation.

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm. Predicted to be active in nucleus.

Source: NCBI Gene 7634 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 43 total
• MANE Select transcript: NM_007136

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13155
Approved symbol	ZNF80
Name	zinc finger protein 80
Location	3q13.31
Locus type	gene with protein product
Status	Approved
Aliases	pT17
Ensembl gene	ENSG00000174255
Ensembl biotype	protein_coding
OMIM	194553
Entrez	7634

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 nonsense_mediated_decay, 1 protein_coding

ENST00000308095, ENST00000482457

RefSeq mRNA: 1 — MANE Select: NM_007136 NM_007136

CCDS: CCDS2979

Canonical transcript exons

ENST00000482457 — 1 exons

Exon	Start	End
ENSE00001899080	114234631	114237578

Expression profiles

Bgee: expression breadth broad, 70 present calls, max score 70.21.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	70.21	gold quality
lymph node	UBERON:0000029	66.05	gold quality
vermiform appendix	UBERON:0001154	61.17	gold quality
spleen	UBERON:0002106	60.05	gold quality
caecum	UBERON:0001153	56.59	gold quality
decidua	UBERON:0002450	56.55	gold quality
gall bladder	UBERON:0002110	53.07	gold quality
blood	UBERON:0000178	52.82	gold quality
hair follicle	UBERON:0002073	52.43	gold quality
tonsil	UBERON:0002372	52.16	gold quality
bone marrow cell	CL:0002092	50.62	gold quality
frontal pole	UBERON:0002795	50.41	gold quality
middle frontal gyrus	UBERON:0002702	50.30	gold quality
rectum	UBERON:0001052	50.23	gold quality
paraflocculus	UBERON:0005351	50.18	gold quality
Brodmann (1909) area 10	UBERON:0013541	50.18	gold quality
quadriceps femoris	UBERON:0001377	49.70	gold quality
metanephric glomerulus	UBERON:0004736	49.61	gold quality
small intestine Peyer’s patch	UBERON:0003454	49.59	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality
thymus	UBERON:0002370	49.28	gold quality
cerebellar vermis	UBERON:0004720	49.25	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
vastus lateralis	UBERON:0001379	49.11	gold quality
colonic epithelium	UBERON:0000397	49.01	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality
myocardium	UBERON:0002349	48.87	gold quality
type B pancreatic cell	CL:0000169	48.83	gold quality
oviduct epithelium	UBERON:0004804	48.78	gold quality
small intestine	UBERON:0002108	48.61	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.64

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

116 targeting ZNF80, 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-4533	100.00	69.48	2758
HSA-MIR-5193	100.00	67.26	1744
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-548AW	99.99	72.57	3559
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-548N	99.98	71.94	4170
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-6835-3P	99.93	70.49	2904

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
drosophila_melanogaster	CG2712	FBGN0024975
drosophila_melanogaster	Phs	FBGN0036522
drosophila_melanogaster	CG3281	FBGN0260741

Paralogs (62): ZNF582 (ENSG00000018869), ZNF264 (ENSG00000083844), ZNF343 (ENSG00000088876), ZNF684 (ENSG00000117010), ZNF133 (ENSG00000125846), ZNF557 (ENSG00000130544), ZNF337 (ENSG00000130684), ZNF20 (ENSG00000132010), ZFP37 (ENSG00000136866), ZNF614 (ENSG00000142556), KRBOX4 (ENSG00000147121), ZNF599 (ENSG00000153896), ZNF19 (ENSG00000157429), ZNF589 (ENSG00000164048), PRDM9 (ENSG00000164256), ZNF180 (ENSG00000167384), ZNF558 (ENSG00000167785), ZNF35 (ENSG00000169981), ZNF778 (ENSG00000170100), ZNF439 (ENSG00000171291), ZNF440 (ENSG00000171295), ZNF556 (ENSG00000172000), ZNF554 (ENSG00000172006), ZNF596 (ENSG00000172748), ZNF266 (ENSG00000174652), ZNF25 (ENSG00000175395), ZNF77 (ENSG00000175691), ZNF169 (ENSG00000175787), ZNF404 (ENSG00000176222), ZNF491 (ENSG00000177599), ZNF620 (ENSG00000177842), ZNF619 (ENSG00000177873), ZNF875 (ENSG00000181666), ZNF329 (ENSG00000181894), ZFP90 (ENSG00000184939), ZNF566 (ENSG00000186017), ZNF529 (ENSG00000186020), ZNF749 (ENSG00000186230), ZNF555 (ENSG00000186300), ZNF70 (ENSG00000187792)

Protein

Protein identifiers

Zinc finger protein 80 — P51504 (reviewed: P51504)

Alternative names: ZNFpT17

All UniProt accessions (1): P51504

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_009067* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096

UniProt features (11 total): zinc finger region 7, sequence variant 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P51504-F1	81.08	0.47

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 50 (showing top): SASAKI_ADULT_T_CELL_LEUKEMIA, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, PAX3_TARGET_GENES, MIR548AW, MIR4753_3P, MIR27A_3P_MIR27B_3P, MIR9985, MIR130A_5P, MIR6508_5P, MIR4319, MIR2052, MIR125B_5P, MIR125A_5P, MIR4279

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

GO Molecular Function (6): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), 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 DNA-templated transcription	1
transcription by RNA polymerase II	1
transcription cis-regulatory region binding	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
transition metal ion binding	1
nucleic acid binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

230 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF80	PRB3	Q04118	671
ZNF80	GPR15	P49685	600
ZNF80	FAM187B	Q17R55	578
ZNF80	OR7G3	Q8NG95	561
ZNF80	SLC22A24	Q8N4F4	489
ZNF80	CBY2	Q8NA61	466
ZNF80	ABCA10	Q8WWZ4	427
ZNF80	CCHCR1	Q8TD31	425
ZNF80	PI16	Q6UXB8	396
ZNF80	SERPINI2	O75830	374
ZNF80	GBP2	P32456	372
ZNF80	SEMA4D	Q92854	371
ZNF80	KRT83	P78385	367
ZNF80	KYAT3	Q6YP21	365
ZNF80	SLC22A10	Q63ZE4	365

IntAct

28 interactions, top by confidence:

A	B	Type	Score
ZNF80	KRTAP12-3	psi-mi:“MI:0915”(physical association)	0.560
ZNF80	CDR2L	psi-mi:“MI:0915”(physical association)	0.560
GOLGA6L9	ZNF80	psi-mi:“MI:0915”(physical association)	0.560
ZNF80	VMAC	psi-mi:“MI:0915”(physical association)	0.560
ZNF80	CARD10	psi-mi:“MI:0915”(physical association)	0.560
ZNF80	KRT27	psi-mi:“MI:0915”(physical association)	0.560
ZNF80	KRTAP10-9	psi-mi:“MI:0915”(physical association)	0.560
ZNF80	CALCOCO2	psi-mi:“MI:0915”(physical association)	0.560
ZNF80	HOOK1	psi-mi:“MI:0915”(physical association)	0.560
ZNF80	KRTAP12-3	psi-mi:“MI:0915”(physical association)	0.000
ZNF80	CDR2L	psi-mi:“MI:0915”(physical association)	0.000
ZNF80	GOLGA6L9	psi-mi:“MI:0915”(physical association)	0.000
ZNF80	VMAC	psi-mi:“MI:0915”(physical association)	0.000
ZNF80	CARD10	psi-mi:“MI:0915”(physical association)	0.000
ZNF80	KRT27	psi-mi:“MI:0915”(physical association)	0.000
ZNF80	CALCOCO2	psi-mi:“MI:0915”(physical association)	0.000
ZNF80	KRTAP10-9	psi-mi:“MI:0915”(physical association)	0.000
HOOK1	ZNF80	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (11): ZNF80 (Two-hybrid), ZNF80 (Two-hybrid), ZNF80 (Two-hybrid), ZNF80 (Two-hybrid), ZNF80 (Two-hybrid), VMAC (Two-hybrid), GOLGA6L9 (Two-hybrid), KRTAP12-3 (Two-hybrid), KRTAP10-9 (Two-hybrid), ZNF80 (Cross-Linking-MS (XL-MS)), ZNF80 (Two-hybrid)

ESM2 similar proteins: A2RRD8, P10755, P15621, P16372, P16373, P16415, P17030, P17039, P51503, P51504, P51505, P52737, P52741, Q0VGE8, Q13398, Q14584, Q14588, Q147U1, Q3MIS6, Q494X3, Q5RBQ3, Q5REK1, Q61751, Q62981, Q6GQR8, Q6P9A3, Q7TSH9, Q7TSI0, Q8N7K0, Q8N823, Q8N9F8, Q8NA42, Q8NCK3, Q8NDP4, Q8NEP9, Q8TAU3, Q96GE5, Q96HQ0, Q96I27, Q96SK3

Diamond homologs: A2VDP4, A6NDX5, A6NFI3, A6NM28, A6QLU5, A6QPT6, A7MBI1, A8MWA4, B4DU55, E9PYI1, O43296, O60765, O75290, P17023, P17032, P17098, P21506, P51503, P51504, P51505, P51506, P51507, P51508, P51814, P52736, P52738, P52742, Q06730, Q06732, Q08DG8, Q08ER8, Q14592, Q14929, Q16587, Q29RZ4, Q2KI58, Q2M218, Q2M3W8, Q32M78, Q3KQV3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	34
Likely benign	3
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

108 predictions. Top by Δscore:

Variant	Effect	Δscore
3:114236279:T:TA	donor_gain	0.7700
3:114236284:CT:C	donor_gain	0.7500
3:114236499:A:AC	donor_gain	0.7500
3:114236500:C:CC	donor_gain	0.7500
3:114236433:T:A	donor_gain	0.6900
3:114236490:C:A	donor_gain	0.6800
3:114236489:T:TA	donor_gain	0.6700
3:114236283:A:AC	donor_gain	0.6500
3:114236284:C:CC	donor_gain	0.6500
3:114236500:CTGCA:C	donor_gain	0.6300
3:114236500:CTG:C	donor_gain	0.5200
3:114236761:CAGGG:C	donor_gain	0.4700
3:114236405:T:A	donor_gain	0.4500
3:114236278:AT:A	donor_gain	0.4200
3:114236317:T:TA	donor_gain	0.4100
3:114236501:TG:T	donor_gain	0.4100
3:114235715:TTTG:T	donor_gain	0.4000
3:114235716:TTGT:T	donor_gain	0.4000
3:114236255:A:AC	donor_gain	0.4000
3:114235332:CC:C	acceptor_gain	0.3400
3:114235333:CC:C	acceptor_gain	0.3400
3:114235972:T:TA	donor_gain	0.3400
3:114236256:A:C	donor_gain	0.3400
3:114236285:T:C	donor_gain	0.3300
3:114235329:CGTCC:C	acceptor_loss	0.3200
3:114235330:GTCCC:G	acceptor_loss	0.3200
3:114235331:TCCC:T	acceptor_loss	0.3200
3:114235334:C:A	acceptor_loss	0.3200
3:114235335:T:A	acceptor_loss	0.3200
3:114235348:C:CT	acceptor_loss	0.3200

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000267551 (3:114237721 T>C,G), RS1000723915 (3:114237450 T>A), RS1000894236 (3:114238509 C>T), RS1001889907 (3:114239527 A>G), RS1002078353 (3:114238230 A>C,G), RS1002686131 (3:114239140 G>A), RS1002786312 (3:114236038 G>A,C), RS1003184353 (3:114238773 C>T), RS1003627284 (3:114235613 A>C,T), RS1003637135 (3:114235277 G>C), RS1004092455 (3:114237293 T>C,G), RS1004189494 (3:114237341 T>C), RS1005098379 (3:114238243 C>A,T), RS1005143531 (3:114238416 A>T), RS1005400647 (3:114238325 TGCCGTGGAGCAGGGGGCG>T)

Disease associations

OMIM: gene MIM:194553 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST003832_1	Asthma (childhood onset)	8.000000e-08
GCST003832_17	Asthma (childhood onset)	7.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Nickel	increases expression	2
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Endosulfan	decreases expression	1
Mercury	increases expression	1
Aflatoxin B1	increases methylation	1
Antirheumatic Agents	decreases expression	1

Clinical trials (associated diseases)

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