ZNF28

gene
On this page

Also known as KOX24DKFZp781D0275

Summary

ZNF28 (zinc finger protein 28, HGNC:13073) is a protein-coding gene on chromosome 19q13.41, encoding Zinc finger protein 28 (P17035). 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 active in nucleus.

Source: NCBI Gene 7576 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 150 total
  • MANE Select transcript: NM_006969

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:13073
Approved symbolZNF28
Namezinc finger protein 28
Location19q13.41
Locus typegene with protein product
StatusApproved
AliasesKOX24, DKFZp781D0275
Ensembl geneENSG00000198538
Ensembl biotypeprotein_coding
OMIM620466
Entrez7576

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000339844, ENST00000391783, ENST00000438150, ENST00000457749, ENST00000464469, ENST00000542421, ENST00000594602, ENST00000596559, ENST00000868404

RefSeq mRNA: 8 — MANE Select: NM_006969 NM_001369761, NM_001369762, NM_001369763, NM_001369764, NM_001369765, NM_001369766, NM_001369768, NM_006969

CCDS: CCDS33093, CCDS92676, CCDS92677

Canonical transcript exons

ENST00000457749 — 4 exons

ExonStartEnd
ENSE000014713435282158652821633
ENSE000035452545281794452818031
ENSE000036715115280800752808133
ENSE000036804095279740852801702

Expression profiles

Bgee: expression breadth ubiquitous, 136 present calls, max score 86.06.

FANTOM5 (CAGE): breadth broad, TPM avg 0.6436 / max 14.6347, expressed in 395 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
1825350.6436395

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
islet of LangerhansUBERON:000000686.06gold quality
adrenal tissueUBERON:001830386.06gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099183.82gold quality
endometriumUBERON:000129583.75gold quality
colonic epitheliumUBERON:000039782.67gold quality
ganglionic eminenceUBERON:000402382.40gold quality
cortical plateUBERON:000534382.38gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047380.89gold quality
bone marrow cellCL:000209280.85gold quality
rectumUBERON:000105280.72gold quality
calcaneal tendonUBERON:000370180.13gold quality
ventricular zoneUBERON:000305379.82gold quality
mucosa of transverse colonUBERON:000499179.72gold quality
tonsilUBERON:000237279.62gold quality
pancreasUBERON:000126479.23gold quality
granulocyteCL:000009478.22gold quality
leukocyteCL:000073878.20gold quality
stromal cell of endometriumCL:000225578.01gold quality
monocyteCL:000057677.93gold quality
placentaUBERON:000198777.82gold quality
adrenal glandUBERON:000236977.72gold quality
right adrenal gland cortexUBERON:003582777.59gold quality
duodenumUBERON:000211477.56gold quality
right adrenal glandUBERON:000123377.45gold quality
kidneyUBERON:000211377.17gold quality
bone marrowUBERON:000237177.08gold quality
smooth muscle tissueUBERON:000113576.97gold quality
left adrenal glandUBERON:000123476.93gold quality
lymph nodeUBERON:000002976.85gold quality
gall bladderUBERON:000211076.75gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes3.88

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

145 targeting ZNF28, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3064-3P100.0070.091254
HSA-MIR-3925-3P100.0069.951237
HSA-MIR-6833-3P100.0070.633197
HSA-MIR-4768-5P100.0069.492861
HSA-MIR-6873-3P100.0071.422626
HSA-MIR-29A-3P100.0073.111835
HSA-MIR-29B-3P100.0073.181833
HSA-MIR-29C-3P100.0073.151833
HSA-MIR-5692A100.0074.406850
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-1212199.9966.64255
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-4715-3P99.9866.03670
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-MIR-477599.9875.006394
HSA-MIR-480399.9871.993117
HSA-MIR-314899.9775.066478
HSA-MIR-302C-5P99.9772.563642
HSA-MIR-590-3P99.9674.346478
HSA-MIR-548AJ-3P99.9673.385345
HSA-MIR-548X-3P99.9673.385345
HSA-MIR-23A-3P99.9574.243163
HSA-MIR-23B-3P99.9574.243163
HSA-MIR-23C99.9573.923192
HSA-MIR-55999.9572.283609
HSA-MIR-548AB99.9571.313488
HSA-MIR-6845-3P99.9466.881439
HSA-MIR-548J-3P99.9472.614881

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 28P17035 (reviewed: P17035)

Alternative names: Zinc finger protein KOX24

All UniProt accessions (5): C9K0H3, P17035, F8WBV3, M0QXU3, M0R0U4

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 IDNamesCanonical?
P17035-11yes
P17035-22

RefSeq proteins (8): NP_001356690, NP_001356691, NP_001356692, NP_001356693, NP_001356694, NP_001356695, NP_001356697, NP_008900* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001909KRABDomain
IPR013087Znf_C2H2_typeDomain
IPR036051KRAB_dom_sfHomologous_superfamily
IPR036236Znf_C2H2_sfHomologous_superfamily

Pfam: PF00096, PF01352, PF13465

UniProt features (34 total): zinc finger region 18, sequence conflict 8, sequence variant 3, cross-link 2, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P17035-F169.350.20

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): 89, 428

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

IDPathway
R-HSA-212436Generic Transcription Pathway
R-HSA-9843940Regulation of endogenous retroelements by KRAB-ZFP proteins

MSigDB gene sets: 79 (showing top): GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, REACTOME_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, ELF2_TARGET_GENES, ZBTB12_TARGET_GENES, ZNF350_TARGET_GENES, ZNF362_TARGET_GENES, MIR616_5P, MIR371B_5P, MIR373_5P, MIR548AJ_3P_MIR548X_3P, MIR4698, MIR548D_3P, MIR548H_3P_MIR548Z, MIR548BB_3P

GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), 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 (1): nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
RNA Polymerase II Transcription1
Regulation of endogenous retroelements1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
RNA polymerase II transcription regulatory region sequence-specific DNA binding2
regulation of DNA-templated transcription1
transcription by RNA polymerase II1
DNA-templated transcription1
regulation of gene expression1
regulation of RNA biosynthetic process1
cis-regulatory region sequence-specific DNA binding1
chromatin1
DNA-binding transcription factor activity1
regulation of transcription by RNA polymerase II1
transition metal ion binding1
nucleic acid binding1
cation binding1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

352 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ZNF28A6NLF2A6NLF2515
ZNF28A0A087WTG0A0A087WTG0507
ZNF28NBPF26B4DH59507
ZNF28CREG2Q8IUH2459
ZNF28SREK1IP1Q8N9Q2457
ZNF28SFXN3Q9BWM7450
ZNF28LEMD3Q9Y2U8435
ZNF28WIPF1O43516425
ZNF28INSYN2BA6NMK8419
ZNF28P2RX1P51575417
ZNF28GNG12Q9UBI6396
ZNF28FAM124AQ86V42390
ZNF28PDE6BP35913387
ZNF28CCDC43Q96MW1376
ZNF28PMP2P02689363

IntAct

9 interactions, top by confidence:

ABTypeScore
MAPK6HERC2psi-mi:“MI:0914”(association)0.840
TRIM28ZNF320psi-mi:“MI:0914”(association)0.530
ZNF28TCAF1psi-mi:“MI:0915”(physical association)0.400
TRIM28ZNF320psi-mi:“MI:0914”(association)0.350
Mpsi-mi:“MI:0914”(association)0.350
PURGZNF320psi-mi:“MI:0914”(association)0.350

BioGRID (10): ZNF28 (Affinity Capture-MS), ZNF28 (Affinity Capture-MS), ZNF28 (Affinity Capture-MS), ZNF28 (Affinity Capture-MS), ZNF28 (Affinity Capture-RNA), ZNF28 (Affinity Capture-RNA), ZNF28 (Affinity Capture-MS), ZNF28 (Affinity Capture-MS), ZNF28 (Affinity Capture-MS), ZNF28 (Affinity Capture-MS)

ESM2 similar proteins: A2VDP4, A6NHJ4, O94892, P0CJ79, P17014, P17021, P17025, P17032, P17035, P18733, P51508, P51814, Q06730, Q06732, Q09FC8, Q0VGE8, Q14586, Q32M78, Q3MIS6, Q5JVG2, Q5R4K8, Q5R9S5, Q5RBQ3, Q5RCJ2, Q5RER9, Q5TYW1, Q5VIY5, Q6P560, Q6PDB4, Q6ZMW2, Q6ZN06, Q6ZNA1, Q76KX8, Q7L2R6, Q86Y25, Q8N184, Q8N823, Q8N883, Q8N8J6, Q8NEP9

Diamond homologs: A0A1W2PQL4, A2RRD8, A2VDQ7, A6NHJ4, A6NK75, A6NN14, A6NNF4, A6NP11, B4DX44, B4DXR9, E9PW05, O14628, O43345, O75290, O75346, O75373, O75820, P0CB33, P0CJ79, P0DKX0, P10755, P17032, P17035, P52738, Q02386, Q03923, Q03936, Q05481, Q08AN1, Q09FC8, Q0VGE8, Q14586, Q14593, Q147U1, Q15928, Q3MIS6, Q3SXZ3, Q494X3, Q4R6C2, Q5HY98

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance127
Likely benign11
Benign2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1669 predictions. Top by Δscore:

VariantEffectΔscore
19:52808046:C:Adonor_gain1.0000
19:52818027:CAATC:Cacceptor_gain1.0000
19:52818032:C:CCacceptor_gain1.0000
19:52849081:CCTCA:Cdonor_loss1.0000
19:52849082:CTCAC:Cdonor_loss1.0000
19:52849083:TCA:Tdonor_loss1.0000
19:52849084:CA:Cdonor_loss1.0000
19:52849085:AC:Adonor_gain1.0000
19:52849086:CC:Cdonor_gain1.0000
19:52849126:C:Adonor_gain1.0000
19:52849210:GACC:Gacceptor_gain1.0000
19:52849211:ACCC:Aacceptor_loss1.0000
19:52849212:CC:Cacceptor_gain1.0000
19:52849213:CC:Cacceptor_gain1.0000
19:52849213:CCTGA:Cacceptor_loss1.0000
19:52849214:C:Aacceptor_loss1.0000
19:52854252:TCTCA:Tdonor_loss1.0000
19:52854253:CTCA:Cdonor_loss1.0000
19:52854254:TCA:Tdonor_loss1.0000
19:52854255:CA:Cdonor_loss1.0000
19:52854256:ACCTG:Adonor_loss1.0000
19:52854257:C:Adonor_loss1.0000
19:52854341:CAATC:Cacceptor_gain1.0000
19:52854344:TCC:Tacceptor_loss1.0000
19:52854346:C:CCacceptor_gain1.0000
19:52854346:CTG:Cacceptor_loss1.0000
19:52854347:T:Cacceptor_loss1.0000
19:52808045:T:TAdonor_gain0.9900
19:52808130:GACC:Gacceptor_gain0.9900
19:52808132:CC:Cacceptor_gain0.9900

AlphaMissense

4829 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
19:52800081:G:CF588L0.997
19:52800081:G:TF588L0.997
19:52800083:A:GF588L0.997
19:52799745:G:CF700L0.996
19:52799745:G:TF700L0.996
19:52799747:A:GF700L0.996
19:52799997:G:CF616L0.996
19:52799997:G:TF616L0.996
19:52799999:A:GF616L0.996
19:52799829:A:CF672L0.995
19:52799829:A:TF672L0.995
19:52799831:A:GF672L0.995
19:52800165:G:CF560L0.995
19:52800165:G:TF560L0.995
19:52800167:A:GF560L0.995
19:52800333:G:CF504L0.995
19:52800333:G:TF504L0.995
19:52800335:A:GF504L0.995
19:52799913:G:CF644L0.994
19:52799913:G:TF644L0.994
19:52799915:A:GF644L0.994
19:52800417:G:CF476L0.994
19:52800417:G:TF476L0.994
19:52800419:A:GF476L0.994
19:52800501:A:CF448L0.994
19:52800501:A:TF448L0.994
19:52800503:A:GF448L0.994
19:52800054:A:CH597Q0.993
19:52800054:A:TH597Q0.993
19:52800585:A:CF420L0.992

dbSNP variants (sampled 300 via entrez): RS1000023557 (19:52797426 A>C), RS1000077423 (19:52797694 A>C,T), RS1000097013 (19:52798556 T>C), RS1000150928 (19:52798254 C>T), RS1000457592 (19:52823011 A>C), RS1000723246 (19:52818318 T>C), RS1000849284 (19:52823198 A>C), RS1000863357 (19:52812867 A>T), RS1000918514 (19:52818661 C>A,G,T), RS1000963577 (19:52818521 T>C), RS1000978818 (19:52808629 C>A,G,T), RS1001096193 (19:52814206 C>A,G), RS1001247687 (19:52814317 A>G), RS1001305172 (19:52820501 G>A), RS1001315391 (19:52812538 G>A)

Disease associations

OMIM: gene MIM:620466 | 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):

StudyTraitp-value
GCST002337_22Amyotrophic lateral sclerosis (sporadic)5.000000e-06

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.

ChemicalActions (top 5)PubMed papers
sodium arseniteaffects cotreatment, increases abundance, increases expression2
Benzo(a)pyreneaffects methylation, decreases methylation2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamidedecreases expression1
TAK-243increases sumoylation1
triphenyl phosphateaffects expression1
sulforaphaneincreases expression1
manganese chlorideincreases abundance, increases expression, affects cotreatment1
di-n-butylphosphoric acidaffects expression1
perfluorooctane sulfonic aciddecreases expression1
CGP 52608affects binding, increases reaction1
abrinedecreases expression1
bisphenol Sincreases methylation1
Arsenic Trioxideincreases expression, affects cotreatment1
Air Pollutantsaffects expression, increases abundance1
Arsenicaffects cotreatment, increases abundance, increases expression1
Atrazinedecreases expression1
Doxorubicindecreases expression1
Manganeseincreases abundance, increases expression, affects cotreatment1
Ozoneaffects expression, increases abundance1
Tretinoinincreases expression, affects cotreatment1
Valproic Acidincreases methylation1
Cadmium Chloridedecreases expression1

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): sporadic amyotrophic lateral sclerosis