ZNF284

Summary

ZNF284 (zinc finger protein 284, HGNC:13078) is a protein-coding gene on chromosome 19q13.31, encoding Zinc finger protein 284 (Q2VY69). 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 DNA-templated transcription. Predicted to be located in nucleus.

Source: NCBI Gene 342909 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 94 total
• MANE Select transcript: NM_001037813

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13078
Approved symbol	ZNF284
Name	zinc finger protein 284
Location	19q13.31
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp781F1775
Ensembl gene	ENSG00000186026
Ensembl biotype	protein_coding
Entrez	342909

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

ENST00000421176, ENST00000851662, ENST00000851663, ENST00000929281, ENST00000929282, ENST00000929283, ENST00000929284

RefSeq mRNA: 1 — MANE Select: NM_001037813 NM_001037813

CCDS: CCDS46099

Canonical transcript exons

ENST00000421176 — 5 exons

Exon	Start	End
ENSE00001680413	44072159	44072291
ENSE00002772151	44085714	44089613
ENSE00003547211	44081015	44081141
ENSE00003548728	44082013	44082105
ENSE00003574296	44076322	44076404

Expression profiles

Bgee: expression breadth ubiquitous, 197 present calls, max score 88.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.2640 / max 50.1673, expressed in 1584 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
176241	4.2640	1584
176243	3.4203	1414

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	88.32	gold quality
oviduct epithelium	UBERON:0004804	87.77	gold quality
pancreatic ductal cell	CL:0002079	84.48	silver quality
left ventricle myocardium	UBERON:0006566	82.02	gold quality
cardiac muscle of right atrium	UBERON:0003379	81.87	gold quality
buccal mucosa cell	CL:0002336	80.13	gold quality
secondary oocyte	CL:0000655	75.51	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.48	gold quality
epithelial cell of pancreas	CL:0000083	74.73	gold quality
stromal cell of endometrium	CL:0002255	73.58	gold quality
myocardium	UBERON:0002349	72.70	gold quality
cortical plate	UBERON:0005343	72.55	gold quality
ventricular zone	UBERON:0003053	71.21	gold quality
granulocyte	CL:0000094	70.15	gold quality
ganglionic eminence	UBERON:0004023	70.01	gold quality
visceral pleura	UBERON:0002401	69.96	silver quality
parietal pleura	UBERON:0002400	69.87	silver quality
endothelial cell	CL:0000115	69.80	silver quality
pigmented layer of retina	UBERON:0001782	69.74	gold quality
epithelium of mammary gland	UBERON:0003244	69.57	silver quality
ileal mucosa	UBERON:0000331	69.52	silver quality
mammary duct	UBERON:0001765	69.45	silver quality
endometrium	UBERON:0001295	69.22	gold quality
thymus	UBERON:0002370	69.18	silver quality
fallopian tube	UBERON:0003889	69.14	gold quality
deltoid	UBERON:0001476	68.72	gold quality
skin of hip	UBERON:0001554	68.55	gold quality
mammalian vulva	UBERON:0000997	68.46	silver quality
jejunal mucosa	UBERON:0000399	68.11	silver quality
oocyte	CL:0000023	67.90	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.90

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

24 targeting ZNF284, 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-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-10395-5P	99.86	67.35	676
HSA-MIR-383-3P	99.85	65.84	1359
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-4666A-5P	99.41	69.72	1887
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-4528	99.18	69.77	1936
HSA-MIR-640	98.44	66.93	644
HSA-MIR-4773	98.35	67.30	1710
HSA-MIR-708-3P	97.50	68.67	1082
HSA-MIR-3201	97.16	65.42	1044
HSA-MIR-4791	96.51	67.76	659

Literature-anchored findings (GeneRIF, showing 1)

• This study reports the cloning and characterization of a novel human zinc finger protein cDNA (ZNF284L) from fetal brain cDNA library. The ZNF284L cDNA is 2223 bp in length encoding a 593-aa polypeptide. (PMID:16817023)

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), 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)

Protein

Protein identifiers

Zinc finger protein 284 — Q2VY69 (reviewed: Q2VY69)

All UniProt accessions (1): Q2VY69

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

Tissue specificity. Expressed in lung, liver, pancreas and thymus. Lower expression in heart, placenta, spleen, prostate, ovary, small intestine and colon. No expression seen in brain, skeletal muscle, kidney, testis and peripheral blood leukocyte.

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

RefSeq proteins (1): NP_001032902* (*=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
IPR050752	C2H2-ZF_domain	Family

Pfam: PF00096, PF01352, PF13912

UniProt features (19 total): zinc finger region 15, sequence variant 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q2VY69-F1	66.25	0.02

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 37 (showing top): GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, E2F3_UP.V1_DN, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, CBX5_TARGET_GENES, ZNF2_TARGET_GENES, ZNF22_TARGET_GENES, ZNF30_TARGET_GENES, ZNF350_TARGET_GENES, ZSCAN31_TARGET_GENES, MIR3646, MIR3671, MIR5680, MIR141_3P

GO Biological Process (2): negative regulation of transcription by RNA polymerase II (GO:0000122), 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 (2): nucleoplasm (GO:0005654), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of transcription by RNA polymerase II	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	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
transition metal ion binding	1
nucleic acid binding	1
cation binding	1
nuclear lumen	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

230 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF284	PCDHGB5	Q9Y5G0	479
ZNF284	EBLN1	P0CF75	476
ZNF284	ARHGEF12	Q9NZN5	465
ZNF284	LRRC46	Q96FV0	431
ZNF284	CCDC73	Q6ZRK6	431
ZNF284	SLC60A1	Q8N468	418
ZNF284	CDC42	P21181	401
ZNF284	TLL2	Q9Y6L7	361
ZNF284	CRB1	P82279	339
ZNF284	GOLGA7	Q7Z5G4	325
ZNF284	GSG1L	Q6UXU4	324
ZNF284	NOL4L	Q96MY1	320
ZNF284	FRYL	O94915	314
ZNF284	GLYR1	Q49A26	305
ZNF284	CNTNAP4	Q9C0A0	305

IntAct

9 interactions, top by confidence:

A	B	Type	Score
ZNF223	PPM1G	psi-mi:“MI:0914”(association)	0.530
TRIM28	ZNF316	psi-mi:“MI:0914”(association)	0.530
ZNF223	CENPB	psi-mi:“MI:0914”(association)	0.530
ZNF221	ZNF284	psi-mi:“MI:0914”(association)	0.530
ZNF284	USP20	psi-mi:“MI:0915”(physical association)	0.400
ZNF221	CDK11B	psi-mi:“MI:0914”(association)	0.350
KLF15		psi-mi:“MI:0914”(association)	0.350
ZNF284	DIAPH1	psi-mi:“MI:0914”(association)	0.350

BioGRID (16): ZNF284 (Affinity Capture-MS), ZNF284 (Affinity Capture-MS), TRIM28 (Affinity Capture-MS), ACTA2 (Affinity Capture-MS), GINS2 (Affinity Capture-MS), DIAPH1 (Affinity Capture-MS), RNF41 (Affinity Capture-MS), AHNAK2 (Affinity Capture-MS), ZNF112 (Affinity Capture-MS), ZNF284 (Affinity Capture-MS), ACTB (Affinity Capture-MS), NKTR (Affinity Capture-MS), ZNF284 (Affinity Capture-MS), SORL1 (Affinity Capture-MS), ZNF284 (Affinity Capture-MS)

ESM2 similar proteins: A0A1W2PQL4, A0JPL0, A2RRD8, A6NHJ4, A6NP11, B4DX44, O75346, O95780, P0CB33, P21506, P51508, P52738, Q0D2J5, Q0VGE8, Q12901, Q13360, Q14593, Q15973, Q2M218, Q2M3X9, Q2VY69, Q3SXZ3, Q5HY98, Q5RCJ2, Q5VIY5, Q6J6I6, Q7L2R6, Q86XU0, Q86Y25, Q8IW36, Q8IYN0, Q8IYX0, Q8N782, Q8N883, Q8N9Z0, Q8NDP4, Q95K49, Q969W8, Q96H40, Q96N58

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.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	84
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

825 predictions. Top by Δscore:

Variant	Effect	Δscore
19:44072264:G:T	donor_gain	1.0000
19:44072289:G:GT	donor_gain	1.0000
19:44076308:A:AG	acceptor_gain	1.0000
19:44076308:AT:A	acceptor_gain	1.0000
19:44076308:ATG:A	acceptor_gain	1.0000
19:44076309:T:G	acceptor_gain	1.0000
19:44076309:T:TA	acceptor_gain	1.0000
19:44076310:G:A	acceptor_gain	1.0000
19:44076314:T:G	acceptor_gain	1.0000
19:44081089:G:GT	donor_gain	1.0000
19:44081137:AGTGG:A	donor_loss	1.0000
19:44081138:G:GG	donor_gain	1.0000
19:44081138:GTGG:G	donor_loss	1.0000
19:44081141:GGT:G	donor_loss	1.0000
19:44081141:GGTG:G	donor_loss	1.0000
19:44081143:T:A	donor_loss	1.0000
19:44082008:CACA:C	acceptor_loss	1.0000
19:44082010:CAG:C	acceptor_loss	1.0000
19:44082010:CAGG:C	acceptor_loss	1.0000
19:44082011:A:AG	acceptor_gain	1.0000
19:44082011:A:T	acceptor_loss	1.0000
19:44082011:AG:A	acceptor_gain	1.0000
19:44082012:G:A	acceptor_loss	1.0000
19:44082012:G:GA	acceptor_gain	1.0000
19:44082012:G:GT	acceptor_gain	1.0000
19:44082012:GG:G	acceptor_gain	1.0000
19:44082012:GGGC:G	acceptor_gain	1.0000
19:44082102:TCAG:T	donor_loss	1.0000
19:44082103:CAG:C	donor_loss	1.0000
19:44082104:AG:A	donor_loss	1.0000

AlphaMissense

3989 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:44086196:T:C	F240L	0.994
19:44086198:C:A	F240L	0.994
19:44086198:C:G	F240L	0.994
19:44086280:T:C	F268L	0.994
19:44086282:C:A	F268L	0.994
19:44086282:C:G	F268L	0.994
19:44086616:T:C	F380L	0.993
19:44086618:C:A	F380L	0.993
19:44086618:C:G	F380L	0.993
19:44086952:T:C	F492L	0.991
19:44086954:T:A	F492L	0.991
19:44086954:T:G	F492L	0.991
19:44086532:T:C	F352L	0.986
19:44086534:C:A	F352L	0.986
19:44086534:C:G	F352L	0.986
19:44087036:T:C	F520L	0.985
19:44087038:C:A	F520L	0.985
19:44087038:C:G	F520L	0.985
19:44086364:T:C	F296L	0.984
19:44086366:C:A	F296L	0.984
19:44086366:C:G	F296L	0.984
19:44086925:T:C	F483L	0.984
19:44086927:C:A	F483L	0.984
19:44086927:C:G	F483L	0.984
19:44086112:T:C	F212L	0.982
19:44086114:T:A	F212L	0.982
19:44086114:T:G	F212L	0.982
19:44086169:T:C	F231L	0.982
19:44086171:C:A	F231L	0.982
19:44086171:C:G	F231L	0.982

dbSNP variants (sampled 300 via entrez): RS1000180108 (19:44077932 C>T), RS1000290482 (19:44071366 T>C), RS1000326383 (19:44071348 C>A), RS1000585405 (19:44071092 C>T), RS1000765663 (19:44088845 C>T), RS1000969726 (19:44082477 C>A,T), RS1001726582 (19:44078027 G>C), RS1001747479 (19:44079560 T>C), RS1001801110 (19:44071695 C>G,T), RS1001802459 (19:44077560 A>G,T), RS1001866417 (19:44072560 A>G), RS1001906313 (19:44084853 C>T), RS1001937927 (19:44071982 C>T), RS1002279098 (19:44076817 C>T), RS1002392940 (19:44088673 G>C)

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

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects expression, increases abundance, decreases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
TAK-243	increases sumoylation	1
propionaldehyde	increases expression	1
bisphenol A	decreases methylation	1
2-methyl-4-isothiazolin-3-one	decreases expression	1
trichostatin A	increases expression	1
2-butenal	decreases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	increases abundance, increases expression, affects cotreatment	1
butyraldehyde	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
bisphenol S	decreases methylation	1
2,6-dichloro-(1,4)benzoquinone	increases expression	1
Leflunomide	decreases expression	1
Arsenic	increases abundance, increases expression, affects cotreatment	1
Benzo(a)pyrene	decreases methylation	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Ozone	affects expression, increases abundance	1
Valproic Acid	increases expression	1
Cadmium Chloride	decreases expression	1
S-Nitrosoglutathione	increases expression	1
Particulate Matter	decreases expression, increases abundance	1
Magnetite Nanoparticles	increases methylation	1

Clinical trials (associated diseases)

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