ZNF286A

Summary

ZNF286A (zinc finger protein 286A, HGNC:13501) is a protein-coding gene on chromosome 17p12, encoding Zinc finger protein 286A (Q9HBT8). 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 transcription by RNA polymerase II. Predicted to be located in membrane. Predicted to be active in nucleus.

Source: NCBI Gene 57335 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 79 total
• MANE Select transcript: NM_001130842

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13501
Approved symbol	ZNF286A
Name	zinc finger protein 286A
Location	17p12
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1874
Ensembl gene	ENSG00000187607
Ensembl biotype	protein_coding
Entrez	57335

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 15 protein_coding, 4 protein_coding_CDS_not_defined, 3 retained_intron

ENST00000395893, ENST00000395894, ENST00000421016, ENST00000464847, ENST00000472486, ENST00000481540, ENST00000578258, ENST00000578920, ENST00000579516, ENST00000579694, ENST00000580136, ENST00000580259, ENST00000580393, ENST00000581529, ENST00000582094, ENST00000583031, ENST00000583347, ENST00000583566, ENST00000585194, ENST00000585207, ENST00000593105, ENST00000923182

RefSeq mRNA: 14 — MANE Select: NM_001130842 NM_001130842, NM_001288642, NM_001288643, NM_001288644, NM_001288645, NM_001288646, NM_001288647, NM_001288648, NM_001288649, NM_001369436, NM_001369437, NM_001369438, NM_001369440, NM_020652

CCDS: CCDS11172, CCDS73997

Canonical transcript exons

ENST00000583566 — 6 exons

Exon	Start	End
ENSE00002702035	15699752	15699777
ENSE00003543270	15701152	15701240
ENSE00003617444	15700135	15700366
ENSE00003631503	15706387	15706501
ENSE00003648146	15708155	15708247
ENSE00003926311	15716059	15720787

Expression profiles

Bgee: expression breadth ubiquitous, 203 present calls, max score 96.47.

FANTOM5 (CAGE): breadth broad, TPM avg 1.3721 / max 28.7072, expressed in 850 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
208070	1.1752	726
208071	0.1969	71

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ganglionic eminence	UBERON:0004023	96.47	gold quality
cortical plate	UBERON:0005343	94.21	gold quality
ventricular zone	UBERON:0003053	91.23	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.73	gold quality
colonic epithelium	UBERON:0000397	87.12	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.06	gold quality
sural nerve	UBERON:0015488	86.92	gold quality
adrenal tissue	UBERON:0018303	86.87	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	85.31	gold quality
left ovary	UBERON:0002119	85.16	gold quality
smooth muscle tissue	UBERON:0001135	84.39	gold quality
right ovary	UBERON:0002118	84.07	gold quality
buccal mucosa cell	CL:0002336	83.96	gold quality
lower esophagus mucosa	UBERON:0035834	83.63	gold quality
stromal cell of endometrium	CL:0002255	83.44	gold quality
gall bladder	UBERON:0002110	83.42	gold quality
cerebellar hemisphere	UBERON:0002245	83.00	gold quality
islet of Langerhans	UBERON:0000006	82.96	gold quality
cerebellar cortex	UBERON:0002129	82.93	gold quality
spinal cord	UBERON:0002240	82.93	gold quality
calcaneal tendon	UBERON:0003701	82.74	gold quality
right hemisphere of cerebellum	UBERON:0014890	82.00	gold quality
body of uterus	UBERON:0009853	81.92	gold quality
right atrium auricular region	UBERON:0006631	81.71	gold quality
ovary	UBERON:0000992	81.69	gold quality
apex of heart	UBERON:0002098	81.48	gold quality
endocervix	UBERON:0000458	81.45	gold quality
right adrenal gland cortex	UBERON:0035827	81.31	gold quality
cerebellum	UBERON:0002037	81.28	gold quality
cardiac atrium	UBERON:0002081	81.13	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-11	yes	503.85
E-MTAB-7249	yes	294.92
E-ANND-3	yes	4.01

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

135 targeting ZNF286A, 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-6851-5P	100.00	65.63	1294
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4692	100.00	67.32	2066
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-371B-5P	99.99	75.34	4759
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-12136	99.98	72.81	5713
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-3688-3P	99.97	72.02	2834
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Zfp286	ENSMUSG00000047342
rattus_norvegicus	Zfp286a	ENSRNOG00000003218

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 286A — Q9HBT8 (reviewed: Q9HBT8)

All UniProt accessions (10): Q9HBT8, A8MTT8, J3KRD3, J3KRF9, J3KRV6, J3KSJ1, J3KSW0, J3QQV4, K7ENW2, K7EQ88

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?
Q9HBT8-1	1	yes
Q9HBT8-2	2

RefSeq proteins (14): NP_001124314, NP_001275571, NP_001275572, NP_001275573, NP_001275574, NP_001275575, NP_001275576, NP_001275577, NP_001275578, NP_001356365, NP_001356366, NP_001356367, NP_001356369, NP_065703 (=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 (18 total): zinc finger region 10, region of interest 2, chain 1, domain 1, compositionally biased region 1, modified residue 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HBT8-F1	64.20	0.05

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 (1): 19

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 83 (showing top): WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, chr17p12, GCM_GSPT1, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, MODULE_205, DODD_NASOPHARYNGEAL_CARCINOMA_UP, RICKMAN_TUMOR_DIFFERENTIATED_MODERATELY_VS_POORLY_UP, GCM_RBM8A, BENPORATH_MYC_MAX_TARGETS, LINDGREN_BLADDER_CANCER_CLUSTER_1_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_UP, VERHAAK_GLIOBLASTOMA_PRONEURAL, GABRIELY_MIR21_TARGETS, GCM_MLL

GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (6): 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), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (2): nucleus (GO:0005634), membrane (GO:0016020)

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
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	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
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
cellular anatomical structure	1

Protein interactions and networks

STRING

444 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF286A	CC2D1A	Q6P1N0	588
ZNF286A	BBX	Q8WY36	473
ZNF286A	DIPK1C	Q0P6D2	430
ZNF286A	MEF2D	Q14814	406
ZNF286A	TCP11L2	Q8N4U5	391
ZNF286A	FOXG1	P55315	382
ZNF286A	OLIG3	Q7RTU3	376
ZNF286A	JKAMP	Q9P055	376
ZNF286A	LRRC14	Q15048	363
ZNF286A	SPATA32	Q96LK8	356
ZNF286A	PDGFC	Q9NRA1	353
ZNF286A	SPRY1	O43609	353
ZNF286A	SLC6A1	P30531	351
ZNF286A	NFIC	P08651	349
ZNF286A	HDAC9	Q9UKV0	349

IntAct

66 interactions, top by confidence:

A	B	Type	Score
RNPS1	ZNF286A	psi-mi:“MI:0915”(physical association)	0.560
TRIM41	ZNF286A	psi-mi:“MI:0915”(physical association)	0.560
ZNF286A	PICK1	psi-mi:“MI:0915”(physical association)	0.560
TSPYL2	ZNF286A	psi-mi:“MI:0915”(physical association)	0.560
SRRM4	ZNF286A	psi-mi:“MI:0915”(physical association)	0.560
CARD10	ZNF286A	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-9	ZNF286A	psi-mi:“MI:0915”(physical association)	0.560
ZNF587	ZNF286A	psi-mi:“MI:0915”(physical association)	0.560
ZNF792	ZNF286A	psi-mi:“MI:0915”(physical association)	0.560
BYSL	ZNF286A	psi-mi:“MI:0915”(physical association)	0.560
HOXB5	ZNF286A	psi-mi:“MI:0915”(physical association)	0.560
ZNF286A	DMWD	psi-mi:“MI:0915”(physical association)	0.560
ZNF286A		psi-mi:“MI:0915”(physical association)	0.560
ZNF286A	SPRED1	psi-mi:“MI:0915”(physical association)	0.560
HTT	ZNF286A	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (36): KRT40 (Two-hybrid), KRTAP10-1 (Two-hybrid), KRTAP10-5 (Two-hybrid), ZNF286A (Affinity Capture-MS), ZNF286A (Affinity Capture-MS), ZNF286A (Affinity Capture-MS), ZNF286A (Affinity Capture-MS), ZNF286A (Affinity Capture-MS), ZNF286A (Affinity Capture-MS), NEURL4 (Affinity Capture-MS), HERC2 (Affinity Capture-MS), ZNF121 (Affinity Capture-MS), RPL26L1 (Affinity Capture-MS), ECI2 (Affinity Capture-MS), ZNF286A (Affinity Capture-MS)

ESM2 similar proteins: A0A087WUV0, A0JNB1, A2VDP4, B2RUI1, P0CG31, P10072, P17025, P17036, P17097, P18733, P51814, Q08ER8, Q09FC8, Q0VGE8, Q14590, Q15937, Q16600, Q2M3X9, Q4V8A8, Q5CZA5, Q5R8G9, Q5RBX0, Q5VIY5, Q68DI1, Q6J6I6, Q6NX49, Q6P1L6, Q6PG37, Q6ZMS4, Q6ZMW2, Q80YP6, Q86UD4, Q86Y25, Q8IZ26, Q8N184, Q8NB42, Q8NEK5, Q8TAF7, Q8TF47, Q8WXB4

Diamond homologs: A0A087WUV0, Q96K75, Q99676, Q9HBT8, Q9UJL9, Q9UJN7, A0A2Z4LIS9, A3RK74, A3RK75, A4L7N3, A8MYZ6, B3LYS5, B3P0K6, B4G4S8, B4HF64, B4JSC2, B4KBF6, B4MB78, B4NFR1, B4PTD3, E1BPQ1, G3V7R4, O16850, O43524, P0CG31, P23512, P32182, P32183, P32315, P33205, P33206, P35582, P35583, P35584, P55317, P55318, P84961, P98177, Q07342, Q10924

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	72
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1119 predictions. Top by Δscore:

Variant	Effect	Δscore
17:15701151:GCTCT:G	acceptor_gain	1.0000
17:15701237:CCAG:C	donor_loss	1.0000
17:15701239:AGG:A	donor_loss	1.0000
17:15701241:G:GA	donor_loss	1.0000
17:15706502:G:GG	donor_gain	1.0000
17:15708145:A:AG	acceptor_gain	1.0000
17:15708146:A:G	acceptor_gain	1.0000
17:15699743:G:GT	donor_gain	0.9900
17:15699773:GGGAG:G	donor_gain	0.9900
17:15699774:GGAGG:G	donor_gain	0.9900
17:15699775:GAG:G	donor_gain	0.9900
17:15700364:G:GT	donor_gain	0.9900
17:15701148:TTAG:T	acceptor_loss	0.9900
17:15701150:A:AG	acceptor_gain	0.9900
17:15701151:G:GA	acceptor_gain	0.9900
17:15701151:GC:G	acceptor_gain	0.9900
17:15701151:GCT:G	acceptor_gain	0.9900
17:15701151:GCTC:G	acceptor_gain	0.9900
17:15701241:G:GG	donor_gain	0.9900
17:15704664:G:GT	donor_gain	0.9900
17:15706462:G:GT	donor_gain	0.9900
17:15706462:G:T	donor_gain	0.9900
17:15706485:G:GT	donor_gain	0.9900
17:15706486:A:T	donor_gain	0.9900
17:15706498:CTTT:C	donor_gain	0.9900
17:15706557:A:T	donor_gain	0.9900
17:15708145:AAAT:A	acceptor_gain	0.9900
17:15708151:ATAG:A	acceptor_gain	0.9900
17:15708152:TA:T	acceptor_loss	0.9900
17:15708153:A:AG	acceptor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000038013 (17:15701498 A>G), RS1000202880 (17:15711864 C>CA,CG,CT), RS1000550436 (17:15713050 A>C,G), RS1000723997 (17:15718186 C>T), RS1000819103 (17:15701098 A>G,T), RS1000932324 (17:15707540 G>A), RS1001018395 (17:15719206 T>C), RS1001103931 (17:15713368 T>A), RS1001355466 (17:15700044 C>T), RS1001366266 (17:15707068 A>T), RS1001449962 (17:15707153 T>G), RS1001465554 (17:15699799 C>A,T), RS1001889379 (17:15718501 G>T), RS1002151318 (17:15706745 A>G,T), RS1002267128 (17:15712926 A>G)

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

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

Chemical	Actions (top 5)	PubMed papers
entinostat	decreases expression, affects cotreatment	2
Valproic Acid	decreases expression	2
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	increases activity, increases expression, affects binding	1
sodium arsenite	increases abundance, increases expression, affects cotreatment	1
perfluorooctanoic acid	decreases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
cupric oxide	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluoro-n-nonanoic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Vorinostat	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	increases expression, affects cotreatment, increases abundance	1
Benzo(a)pyrene	increases expression	1
Cadmium	increases expression	1
Doxorubicin	decreases expression	1
Formaldehyde	decreases expression	1
Gallic Acid	decreases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Methotrexate	increases expression	1
Ozone	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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