ZNF282

Summary

ZNF282 (zinc finger protein 282, HGNC:13076) is a protein-coding gene on chromosome 7q36.1, encoding Zinc finger protein 282 (Q9UDV7). Binds to the U5 repressive element (U5RE) of the human T cell leukemia virus type I long terminal repeat.

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of DNA-templated transcription. Predicted to be located in nucleus.

Source: NCBI Gene 8427 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 106 total — 1 likely-pathogenic
• MANE Select transcript: NM_003575

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13076
Approved symbol	ZNF282
Name	zinc finger protein 282
Location	7q36.1
Locus type	gene with protein product
Status	Approved
Aliases	HUB1
Ensembl gene	ENSG00000170265
Ensembl biotype	protein_coding
OMIM	603397
Entrez	8427

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 2 retained_intron

ENST00000462740, ENST00000470381, ENST00000479907, ENST00000610704, ENST00000850624

RefSeq mRNA: 2 — MANE Select: NM_003575 NM_001303481, NM_003575

CCDS: CCDS5895, CCDS78284

Canonical transcript exons

ENST00000610704 — 8 exons

Exon	Start	End
ENSE00000729802	149210585	149210704
ENSE00000872340	149212358	149212471
ENSE00000872341	149206696	149206822
ENSE00001245403	149207351	149207470
ENSE00002431600	149198333	149198752
ENSE00003463505	149213701	149213814
ENSE00003712764	149195546	149195754
ENSE00003751665	149223812	149226238

Expression profiles

Bgee: expression breadth ubiquitous, 197 present calls, max score 88.71.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.5697 / max 295.7465, expressed in 1816 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
81886	16.3113	1804
81885	7.2584	1757

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	88.71	gold quality
apex of heart	UBERON:0002098	85.73	gold quality
cortical plate	UBERON:0005343	85.73	gold quality
lower esophagus mucosa	UBERON:0035834	85.26	gold quality
gastrocnemius	UBERON:0001388	84.89	gold quality
ventricular zone	UBERON:0003053	84.46	gold quality
muscle of leg	UBERON:0001383	84.42	gold quality
hindlimb stylopod muscle	UBERON:0004252	84.26	gold quality
body of pancreas	UBERON:0001150	84.19	gold quality
skin of abdomen	UBERON:0001416	84.09	gold quality
skin of leg	UBERON:0001511	83.96	gold quality
mucosa of transverse colon	UBERON:0004991	83.92	gold quality
ganglionic eminence	UBERON:0004023	83.86	gold quality
right uterine tube	UBERON:0001302	83.71	gold quality
granulocyte	CL:0000094	83.58	gold quality
stromal cell of endometrium	CL:0002255	83.35	gold quality
muscle layer of sigmoid colon	UBERON:0035805	83.35	gold quality
endocervix	UBERON:0000458	83.28	gold quality
body of uterus	UBERON:0009853	83.26	gold quality
right hemisphere of cerebellum	UBERON:0014890	83.17	gold quality
esophagus mucosa	UBERON:0002469	83.03	gold quality
body of stomach	UBERON:0001161	83.02	gold quality
lower esophagus	UBERON:0013473	83.02	gold quality
lower esophagus muscularis layer	UBERON:0035833	83.02	gold quality
right ovary	UBERON:0002118	82.85	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	82.84	gold quality
esophagus	UBERON:0001043	82.74	gold quality
left ovary	UBERON:0002119	82.53	gold quality
cerebellar hemisphere	UBERON:0002245	82.52	gold quality
cerebellar cortex	UBERON:0002129	82.50	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.44

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA1154.1	ZNF282	More than 3 adjacent zinc fingers
MA1154.2	ZNF282	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:28092692

Upstream regulators (CollecTRI, top): STAT1

miRNA regulators (miRDB)

66 targeting ZNF282, 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-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-6871-3P	99.43	68.85	741
HSA-MIR-4251	99.40	69.19	3363

Literature-anchored findings (GeneRIF, showing 2)

• SUMOylation of ZFP282 potentiates its positive effect on estrogen signaling in breast tumorigenesis. (PMID:22986521)
• ZNF282 is E2F1 co-activator involved in esophageal squamous cell carcinoma (PMID:25373738)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf646	ENSDARG00000061424
danio_rerio	si:dkey-89b17.4	ENSDARG00000075545
danio_rerio	zgc:66472	ENSDARG00000075916
danio_rerio	si:ch211-148l7.4	ENSDARG00000094469
mus_musculus	Zfp282	ENSMUSG00000025821
rattus_norvegicus	Zfp282	ENSRNOG00000026981
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), ZNF160 (ENSG00000170949), ZNF497 (ENSG00000174586), ZBTB34 (ENSG00000177125), ZNF771 (ENSG00000179965), ZNF48 (ENSG00000180035), ZNF594 (ENSG00000180626), 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 282 — Q9UDV7 (reviewed: Q9UDV7)

Alternative names: HTLV-I U5RE-binding protein 1

All UniProt accessions (2): Q9UDV7, A0A090N8Y3

UniProt curated annotations — full annotation on UniProt →

Function. Binds to the U5 repressive element (U5RE) of the human T cell leukemia virus type I long terminal repeat. It recognizes the 5’-TCCACCCC-3’ sequence as a core motif and exerts a strong repressive effect on HTLV-I LTR-mediated expression.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitous.

Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UDV7-1	1	yes
Q9UDV7-2	2

RefSeq proteins (2): NP_001290410, NP_003566* (*=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 (20 total): zinc finger region 5, compositionally biased region 3, region of interest 3, splice variant 2, sequence conflict 2, chain 1, domain 1, modified residue 1, cross-link 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UDV7-F1	56.13	0.19

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): 319, 293

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 112 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, TGGTGCT_MIR29A_MIR29B_MIR29C, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, AAAGGGA_MIR204_MIR211, SANSOM_APC_TARGETS_UP, TCCAGAT_MIR5165P, NGUYEN_NOTCH1_TARGETS_DN, RYTTCCTG_ETS2_B, DBP_Q6, TGGAAA_NFAT_Q4_01, SMAD4_Q6, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, SWEET_LUNG_CANCER_KRAS_UP, MODULE_49, CACTGCC_MIR34A_MIR34C_MIR449

GO Biological Process (2): regulation of DNA-templated transcription (GO:0006355), negative regulation of DNA-templated transcription (GO:0045892)

GO Molecular Function (6): DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), 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
DNA-templated transcription	2
regulation of DNA-templated transcription	2
regulation of gene expression	1
regulation of RNA biosynthetic process	1
negative regulation of RNA biosynthetic process	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
transition metal ion binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

942 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF282	ELAVL1	Q15717	741
ZNF282	ZNF534	Q76KX8	433
ZNF282	CALCOCO1	Q9P1Z2	430
ZNF282	TRIM28	Q13263	414
ZNF282	C7orf33	Q8WU49	401
ZNF282	DRC11L	A6NCM1	394
ZNF282	WDR86	Q86TI4	388
ZNF282	A0A087WTJ2	A0A087WTJ2	368
ZNF282	PRDM7	Q9NQW5	359
ZNF282	ZBED10P	Q96FA7	350
ZNF282	ZKSCAN2	Q63HK3	326
ZNF282	LRRC61	Q9BV99	324
ZNF282	CCAR2	Q8N163	296
ZNF282	CRYGN	Q8WXF5	289
ZNF282	ZNF263	O14978	274

IntAct

31 interactions, top by confidence:

A	B	Type	Score
NPHP1	NPHP4	psi-mi:“MI:0914”(association)	0.930
ZNF398	ZNF282	psi-mi:“MI:0914”(association)	0.710
ZNF282	ZNF398	psi-mi:“MI:0915”(physical association)	0.710
ZNF398	LRP4	psi-mi:“MI:0914”(association)	0.530
FGL2	PCNT	psi-mi:“MI:0914”(association)	0.530
ERP44	MEX3A	psi-mi:“MI:0914”(association)	0.530
ZNF282	MAPKAPK5	psi-mi:“MI:0915”(physical association)	0.370
ZNF282	PIK3CG	psi-mi:“MI:0915”(physical association)	0.370
ZNF282	PKN1	psi-mi:“MI:0915”(physical association)	0.370
NS1	SAC3D1	psi-mi:“MI:0914”(association)	0.350
ZNF212	ZNF746	psi-mi:“MI:0914”(association)	0.350
SLX4	SMAP	psi-mi:“MI:0914”(association)	0.350
S100P	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
FBLN5	ZNF320	psi-mi:“MI:0914”(association)	0.350
NOTCH2	ZNF320	psi-mi:“MI:0914”(association)	0.350
LTBP2	ZNF320	psi-mi:“MI:0914”(association)	0.350
PNMA2	TARS3	psi-mi:“MI:0914”(association)	0.350
DPP8	KRBA1	psi-mi:“MI:0914”(association)	0.350
MPL	FAM171A2	psi-mi:“MI:0914”(association)	0.350
KCNA4	POLRMT	psi-mi:“MI:0914”(association)	0.350
RNH1	DUSP11	psi-mi:“MI:0914”(association)	0.350
ZNF767P	ZMYM6	psi-mi:“MI:0914”(association)	0.350
TIMM8A	MT-ATP8	psi-mi:“MI:0914”(association)	0.350
RNH1	DDX3Y	psi-mi:“MI:0914”(association)	0.350
ZNF398	DCTN3	psi-mi:“MI:0914”(association)	0.350
ZNF282		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (33): ZNF282 (Affinity Capture-MS), ZNF282 (Affinity Capture-MS), ZNF282 (Affinity Capture-MS), ZNF282 (Affinity Capture-MS), ZNF282 (Affinity Capture-MS), ZNF282 (Affinity Capture-MS), ZNF282 (Affinity Capture-MS), ZNF282 (Affinity Capture-MS), ZNF282 (Affinity Capture-MS), ZNF282 (Affinity Capture-MS), ZNF282 (Affinity Capture-MS), ZNF282 (Affinity Capture-MS), ZNF282 (Affinity Capture-MS), ZNF282 (Affinity Capture-MS), ZNF282 (Affinity Capture-MS)

ESM2 similar proteins: A0A0J9YXV3, A0A172M4N0, A2VE23, A5PL33, C7EMF5, E7EW31, F1NSM7, I3L273, O15027, O48582, O55189, O55196, O97939, P0C671, P0DV77, P14138, Q14D33, Q1XI13, Q28989, Q3B7M4, Q4R729, Q5R7U0, Q5SWP3, Q62840, Q63003, Q6E0U4, Q6H236, Q6NUN9, Q6UXA7, Q7Z2K8, Q86UU5, Q8BM15, Q8K4E0, Q8K4L6, Q8N1P7, Q8N3D4, Q96D09, Q96JG9, Q9BGL9, Q9D7G9

Diamond homologs: A0A163UT06, A2AGX3, A6QPM3, B1AUS7, E9Q3T6, O60224, O75626, P0C6Y7, P52736, Q13029, Q16384, Q16385, Q3UZD5, Q5R5M1, Q60636, Q63755, Q6P2A1, Q6PGE4, Q7RTT6, Q80V63, Q86UQ0, Q8BZ97, Q8TD17, Q96EQ9, Q99909, Q9GZV8, Q9NQV5, Q9NQV7, Q9NQV8, Q9NQW5, Q9NQX0, Q9QZP2, Q9UDV7, Q9UKN5, Q9ULD5, O15090, O43167, P17041, P18732, P18744

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	85
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
149558	GRCh38/hg38 7q35-36.1(chr7:143596735-150089125)x4	Likely pathogenic

SpliceAI

1722 predictions. Top by Δscore:

Variant	Effect	Δscore
7:149195692:G:GT	donor_gain	1.0000
7:149198701:G:GT	donor_gain	1.0000
7:149198750:AAG:A	donor_loss	1.0000
7:149206820:TGGG:T	donor_loss	1.0000
7:149206821:GG:G	donor_gain	1.0000
7:149206822:GG:G	donor_gain	1.0000
7:149206823:G:C	donor_loss	1.0000
7:149206823:G:GG	donor_gain	1.0000
7:149206824:TAAG:T	donor_loss	1.0000
7:149207343:A:AG	acceptor_gain	1.0000
7:149207344:C:G	acceptor_gain	1.0000
7:149207504:G:T	donor_gain	1.0000
7:149210580:CCCA:C	acceptor_loss	1.0000
7:149210582:CA:C	acceptor_loss	1.0000
7:149210583:A:AG	acceptor_gain	1.0000
7:149210583:A:AT	acceptor_loss	1.0000
7:149210584:G:A	acceptor_loss	1.0000
7:149210584:G:GG	acceptor_gain	1.0000
7:149210584:GGA:G	acceptor_gain	1.0000
7:149210700:TACCG:T	donor_gain	1.0000
7:149210702:CCG:C	donor_gain	1.0000
7:149210703:CG:C	donor_gain	1.0000
7:149210704:GG:G	donor_gain	1.0000
7:149210705:GTGA:G	donor_gain	1.0000
7:149210707:GA:G	donor_gain	1.0000
7:149210708:A:AG	donor_gain	1.0000
7:149210709:G:GG	donor_gain	1.0000
7:149212353:A:G	acceptor_gain	1.0000
7:149223807:CCCA:C	acceptor_loss	1.0000
7:149223808:CCA:C	acceptor_loss	1.0000

AlphaMissense

4380 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:149224210:T:C	F527L	1.000
7:149224212:C:A	F527L	1.000
7:149224212:C:G	F527L	1.000
7:149224237:C:G	H536D	1.000
7:149224243:C:A	R538S	1.000
7:149224244:G:C	R538P	1.000
7:149224249:C:G	H540D	1.000
7:149224251:C:A	H540Q	1.000
7:149224251:C:G	H540Q	1.000
7:149224273:T:C	C548R	1.000
7:149224294:T:A	F555I	1.000
7:149224294:T:C	F555L	1.000
7:149224295:T:C	F555S	1.000
7:149224296:C:A	F555L	1.000
7:149224296:C:G	F555L	1.000
7:149224313:T:C	L561P	1.000
7:149224319:G:C	R563P	1.000
7:149224321:C:A	H564N	1.000
7:149224321:C:G	H564D	1.000
7:149224323:C:A	H564Q	1.000
7:149224323:C:G	H564Q	1.000
7:149224325:A:C	Q565P	1.000
7:149224333:C:G	H568D	1.000
7:149224378:T:G	Y583D	1.000
7:149224405:C:G	H592D	1.000
7:149224407:C:A	H592Q	1.000
7:149224407:C:G	H592Q	1.000
7:149224435:T:C	F602L	1.000
7:149224437:C:A	F602L	1.000
7:149224437:C:G	F602L	1.000

dbSNP variants (sampled 300 via entrez): RS1000085495 (7:149214460 A>G), RS1000201914 (7:149211609 G>C), RS1000275525 (7:149211421 T>C), RS1000520422 (7:149216424 T>G), RS1000532732 (7:149210312 G>C), RS1000590359 (7:149218026 T>C), RS1000606344 (7:149210047 A>C,G), RS1000664956 (7:149221735 A>G), RS1000703540 (7:149226655 A>G), RS1000718393 (7:149221593 G>A), RS1000766318 (7:149225469 A>G), RS1001161794 (7:149216137 C>T), RS1001208363 (7:149226253 G>C), RS1001292440 (7:149220926 T>TTTG,TTTGTTG), RS1001372084 (7:149224064 A>G)

Disease associations

OMIM: gene MIM:603397 | 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
GCST008162_89	Hip circumference	6.000000e-06
GCST90002381_365	Eosinophil count	3.000000e-73

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004842	eosinophil count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, decreases methylation, increases expression	2
cobaltous chloride	increases expression	2
Valproic Acid	affects expression, increases methylation	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
TAK-243	increases sumoylation	1
trichostatin A	affects expression	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
apicidin	decreases expression	1
scriptaid	decreases expression	1
abrine	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Benzo(a)pyrene	increases methylation	1
Cadmium	increases expression	1
Caffeine	decreases phosphorylation	1
Camptothecin	increases expression	1
Cytarabine	increases expression	1
Dexamethasone	increases expression, affects cotreatment	1
Doxorubicin	decreases expression	1
Fluorouracil	increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Methotrexate	increases expression	1
Methyl Methanesulfonate	increases expression	1
Phthalic Acids	increases methylation	1
Smoke	decreases expression	1
Tretinoin	decreases expression	1

Clinical trials (associated diseases)

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