ZNF285

Summary

ZNF285 (zinc finger protein 285, HGNC:13079) is a protein-coding gene on chromosome 19q13.31, encoding Zinc finger protein 285 (Q96NJ3). May be involved in transcriptional regulation.

Predicted to enable DNA-binding transcription factor activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleus.

Source: NCBI Gene 26974 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 117 total
• MANE Select transcript: NM_152354

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13079
Approved symbol	ZNF285
Name	zinc finger protein 285
Location	19q13.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000267508
Ensembl biotype	protein_coding
Entrez	26974

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 8 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000544719, ENST00000585868, ENST00000589738, ENST00000591679, ENST00000614994, ENST00000622707, ENST00000911249, ENST00000911250, ENST00000911251, ENST00000965651

RefSeq mRNA: 5 — MANE Select: NM_152354 NM_001291488, NM_001291489, NM_001291490, NM_001291491, NM_152354

CCDS: CCDS12638, CCDS74389

Canonical transcript exons

ENST00000614994 — 4 exons

Exon	Start	End
ENSE00001384776	44392340	44392466
ENSE00003495703	44397199	44397256
ENSE00003601882	44401568	44401608
ENSE00003711954	44382298	44388102

Expression profiles

Bgee: expression breadth ubiquitous, 199 present calls, max score 94.35.

FANTOM5 (CAGE): breadth broad, TPM avg 1.6919 / max 71.7681, expressed in 813 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181392	1.6919	813

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	94.35	gold quality
pancreatic ductal cell	CL:0002079	92.06	gold quality
oviduct epithelium	UBERON:0004804	88.73	gold quality
oocyte	CL:0000023	88.21	gold quality
cortical plate	UBERON:0005343	86.94	gold quality
tibialis anterior	UBERON:0001385	83.60	silver quality
sperm	CL:0000019	83.05	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.75	gold quality
middle temporal gyrus	UBERON:0002771	82.54	gold quality
ganglionic eminence	UBERON:0004023	82.19	gold quality
endothelial cell	CL:0000115	81.94	silver quality
ventricular zone	UBERON:0003053	81.33	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.61	gold quality
ileal mucosa	UBERON:0000331	79.83	gold quality
Brodmann (1909) area 23	UBERON:0013554	77.47	gold quality
buccal mucosa cell	CL:0002336	76.37	gold quality
cerebellar hemisphere	UBERON:0002245	76.03	gold quality
cerebellar cortex	UBERON:0002129	75.94	gold quality
right hemisphere of cerebellum	UBERON:0014890	75.56	gold quality
deltoid	UBERON:0001476	75.27	silver quality
cerebellum	UBERON:0002037	75.06	gold quality
fallopian tube	UBERON:0003889	74.71	gold quality
apex of heart	UBERON:0002098	73.95	gold quality
ovary	UBERON:0000992	73.90	gold quality
stromal cell of endometrium	CL:0002255	73.84	gold quality
primary visual cortex	UBERON:0002436	73.41	gold quality
adrenal tissue	UBERON:0018303	72.64	gold quality
left ovary	UBERON:0002119	72.50	gold quality
right ovary	UBERON:0002118	72.41	gold quality
right uterine tube	UBERON:0001302	72.29	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-GEOD-83139	no	46.21
E-MTAB-8060	no	43.97
E-ANND-3	no	5.46

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

29 targeting ZNF285, 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-3605-5P	99.96	67.12	932
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-6832-5P	99.58	64.82	1132
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-8064	99.45	66.92	875
HSA-MIR-520F-5P	99.34	70.40	1632
HSA-MIR-6128	99.33	67.83	1581
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-4705	99.10	69.10	1091
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-6811-3P	98.62	66.54	944
HSA-MIR-1265	98.36	66.46	598
HSA-MIR-3130-5P	98.14	66.00	711
HSA-MIR-1245B-3P	98.01	68.91	1387
HSA-MIR-204-3P	97.80	66.84	1656
HSA-MIR-4646-5P	97.70	66.84	1692
HSA-MIR-22-5P	97.67	68.92	1355
HSA-MIR-4482-5P	97.53	65.68	598
HSA-MIR-6514-3P	97.52	66.50	808
HSA-MIR-212-5P	96.83	67.43	950
HSA-MIR-339-5P	96.73	66.01	820
HSA-MIR-4652-5P	96.46	64.22	553
HSA-MIR-6726-5P	95.97	63.72	841
HSA-MIR-920	95.97	63.95	811
HSA-MIR-4300	95.85	64.56	1003
HSA-MIR-5591-5P	95.85	64.76	1002
HSA-MIR-550B-3P	95.43	67.73	599
HSA-MIR-7109-3P	94.23	67.19	743

Cross-species orthologs

0 orthologs

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), ZNF507 (ENSG00000168813), 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)

Protein

Protein identifiers

Zinc finger protein 285 — Q96NJ3 (reviewed: Q96NJ3)

Alternative names: Zinc finger protein 285A

All UniProt accessions (4): Q96NJ3, K7EIK6, K7EQE9, K7ERT5

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?
Q96NJ3-1	1	yes
Q96NJ3-2	2

RefSeq proteins (5): NP_001278417, NP_001278418, NP_001278419, NP_001278420, NP_689567* (*=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

UniProt features (16 total): zinc finger region 11, sequence variant 2, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96NJ3-F1	59.17	0.02

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 27 (showing top): GOZGIT_ESR1_TARGETS_DN, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, SALL4_TARGET_GENES, TRIP13_TARGET_GENES, ZNF10_TARGET_GENES, ZSCAN2_TARGET_GENES, MIR1207_5P, MIR4763_3P, MIR6128, MIR3605_5P, MIR550B_3P, MIR4652_5P, GSE15659_NAIVE_CD4_TCELL_VS_RESTING_TREG_DN, GSE15659_CD45RA_NEG_CD4_TCELL_VS_RESTING_TREG_DN, ZNF134_TARGET_GENES

GO Biological Process (1): regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (5): DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), 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	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
nucleic acid binding	1
transcription cis-regulatory region binding	1
regulation of DNA-templated transcription	1
transcription regulator activity	1
transition metal ion binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

250 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF285	C10orf62	Q5T681	583
ZNF285	DENND6A	Q8IWF6	545
ZNF285	CFAP141	Q5VU69	544
ZNF285	OR5M3	Q8NGP4	506
ZNF285	XAGE5	Q8WWM1	447
ZNF285	TIGD5	Q53EQ6	447
ZNF285	ARMCX6	Q7L4S7	447
ZNF285	CAPN15	O75808	438
ZNF285	ZNF280A	P59817	417
ZNF285	PPAN	Q9NQ55	412
ZNF285	MED8	Q96G25	405
ZNF285	MAMLD1	Q13495	398
ZNF285	C1orf35	Q9BU76	397
ZNF285	ETV7	Q9Y603	395
ZNF285	PTPN21	Q16825	393

IntAct

6 interactions, top by confidence:

A	B	Type	Score
ZNF285	CARD10	psi-mi:“MI:0915”(physical association)	0.560
FMR1	ZNF285	psi-mi:“MI:0915”(physical association)	0.000
NDEL1	ZNF285	psi-mi:“MI:0915”(physical association)	0.000
ZNF285	CARD10	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (2): ZNF285 (Two-hybrid), ZNF285 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0JPL0, A3KN36, A7MBI1, A8MT65, B2RXC5, D3ZVT0, P08042, P21506, P51508, P52738, Q02525, Q06730, Q12901, Q2KI58, Q2M218, Q2M3W8, Q2M3X9, Q2VY69, Q49AA0, Q4R6J4, Q4V8A8, Q5FWF6, Q5HY98, Q5RB33, Q5RC79, Q5REF1, Q5T5D7, Q5VIY5, Q61967, Q6P2D0, Q6ZN11, Q86XU0, Q86Y25, Q8N782, Q8N859, Q8NB42, Q8TF39, Q8TF47, Q8WXB4, Q95K49

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	92
Likely benign	19
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

779 predictions. Top by Δscore:

Variant	Effect	Δscore
19:44392338:A:AC	donor_gain	1.0000
19:44392339:C:CC	donor_gain	1.0000
19:44392343:CTAA:C	donor_gain	1.0000
19:44397252:CAGAA:C	acceptor_gain	1.0000
19:44397257:C:CC	acceptor_gain	1.0000
19:44392339:CTCA:C	donor_gain	0.9900
19:44392342:A:AC	donor_gain	0.9900
19:44392343:C:CC	donor_gain	0.9900
19:44397192:AACTT:A	donor_loss	0.9900
19:44397193:ACTTA:A	donor_loss	0.9900
19:44397194:CTT:C	donor_loss	0.9900
19:44397195:TTA:T	donor_loss	0.9900
19:44397196:T:TG	donor_loss	0.9900
19:44397196:TACCT:T	donor_loss	0.9900
19:44397197:A:AA	donor_loss	0.9900
19:44397197:ACC:A	donor_loss	0.9900
19:44397198:C:CG	donor_loss	0.9900
19:44397198:C:CT	donor_loss	0.9900
19:44397253:AGAA:A	acceptor_gain	0.9900
19:44397254:GAA:G	acceptor_gain	0.9900
19:44397255:AA:A	acceptor_gain	0.9900
19:44397255:AACT:A	acceptor_gain	0.9900
19:44397256:AC:A	acceptor_loss	0.9900
19:44397256:ACT:A	acceptor_gain	0.9900
19:44397257:C:A	acceptor_loss	0.9900
19:44397257:CTGC:C	acceptor_gain	0.9900
19:44392339:CT:C	donor_gain	0.9800
19:44397197:A:AC	donor_gain	0.9800
19:44397198:C:CC	donor_gain	0.9800
19:44397253:AGAAC:A	acceptor_gain	0.9800

AlphaMissense

3965 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:44386682:G:C	F521L	0.997
19:44386682:G:T	F521L	0.997
19:44386684:A:G	F521L	0.997
19:44386850:A:C	F465L	0.997
19:44386850:A:T	F465L	0.997
19:44386852:A:G	F465L	0.997
19:44387102:A:C	F381L	0.997
19:44387102:A:T	F381L	0.997
19:44387104:A:G	F381L	0.997
19:44386598:G:C	F549L	0.996
19:44386598:G:T	F549L	0.996
19:44386600:A:G	F549L	0.996
19:44386934:G:C	F437L	0.996
19:44386934:G:T	F437L	0.996
19:44386936:A:G	F437L	0.996
19:44387186:A:C	F353L	0.995
19:44387186:A:T	F353L	0.995
19:44387188:A:G	F353L	0.995
19:44386766:G:C	F493L	0.994
19:44386766:G:T	F493L	0.994
19:44386768:A:G	F493L	0.994
19:44387270:G:C	F325L	0.991
19:44387270:G:T	F325L	0.991
19:44387272:A:G	F325L	0.991
19:44386825:G:C	H474D	0.990
19:44387085:A:G	L387P	0.989
19:44386935:A:G	F437S	0.988
19:44387018:A:C	F409L	0.988
19:44387018:A:T	F409L	0.988
19:44387020:A:G	F409L	0.988

dbSNP variants (sampled 300 via entrez): RS1000085630 (19:44390030 A>G), RS1000262598 (19:44384492 A>G), RS1000368948 (19:44399389 T>A), RS1000466259 (19:44384159 G>A), RS1000621190 (19:44399793 T>A), RS1000776599 (19:44399622 A>G), RS1000814192 (19:44394592 C>A), RS1000986120 (19:44394319 A>G), RS1001209464 (19:44390374 A>C), RS1001764048 (19:44385273 G>A), RS1002044741 (19:44395215 T>C), RS1002468620 (19:44383639 T>C), RS1002846057 (19:44383152 T>C), RS1002943879 (19:44391468 T>C), RS1003084367 (19:44397413 T>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

1 associations (top):

Study	Trait	p-value
GCST001712_62	Myopia (pathological)	3.000000e-15

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004207	pathological myopia

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	decreases expression	1
TAK-243	increases sumoylation	1
terbufos	increases methylation	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
tebuconazole	decreases expression	1
abrine	decreases expression	1
Temozolomide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Fonofos	increases methylation	1
Nickel	decreases expression	1
Parathion	increases methylation	1
Quercetin	increases expression	1
Thiram	decreases expression	1
Urethane	decreases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	increases methylation	1
Lithium Chloride	decreases expression	1
Antirheumatic Agents	increases expression	1
Particulate Matter	increases abundance, decreases expression	1

Clinical trials (associated diseases)

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