ZNF527

Summary

ZNF527 (zinc finger protein 527, HGNC:29385) is a protein-coding gene on chromosome 19q13.12, encoding Zinc finger protein 527 (Q8NB42). 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 84503 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 68 total
• MANE Select transcript: NM_032453

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29385
Approved symbol	ZNF527
Name	zinc finger protein 527
Location	19q13.12
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1829
Ensembl gene	ENSG00000189164
Ensembl biotype	protein_coding
Entrez	84503

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 5 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000356178, ENST00000436120, ENST00000483919, ENST00000587349, ENST00000588512, ENST00000588911, ENST00000589615, ENST00000969391

RefSeq mRNA: 1 — MANE Select: NM_032453 NM_032453

CCDS: CCDS42559

Canonical transcript exons

ENST00000436120 — 5 exons

Exon	Start	End
ENSE00001558960	37388306	37393066
ENSE00003486710	37374158	37374231
ENSE00003494831	37379120	37379246
ENSE00003665363	37380277	37380372
ENSE00003846203	37371099	37371226

Expression profiles

Bgee: expression breadth ubiquitous, 178 present calls, max score 95.03.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.6072 / max 32.5324, expressed in 1172 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
175553	2.1903	1088
175552	0.4169	207

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	95.03	gold quality
upper arm skin	UBERON:0004263	92.55	gold quality
kidney epithelium	UBERON:0004819	88.15	gold quality
cardiac muscle of right atrium	UBERON:0003379	88.10	gold quality
epithelial cell of pancreas	CL:0000083	86.18	silver quality
left ventricle myocardium	UBERON:0006566	86.06	gold quality
myocardium	UBERON:0002349	80.82	gold quality
epithelium of nasopharynx	UBERON:0001951	79.84	gold quality
nasal cavity epithelium	UBERON:0005384	78.29	gold quality
cortical plate	UBERON:0005343	78.07	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.19	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.09	gold quality
oviduct epithelium	UBERON:0004804	76.19	gold quality
mucosa of paranasal sinus	UBERON:0005030	75.94	gold quality
muscle tissue	UBERON:0002385	75.92	gold quality
cartilage tissue	UBERON:0002418	75.57	silver quality
islet of Langerhans	UBERON:0000006	75.44	gold quality
ventricular zone	UBERON:0003053	75.31	gold quality
cardia of stomach	UBERON:0001162	75.25	silver quality
ganglionic eminence	UBERON:0004023	75.17	gold quality
superficial temporal artery	UBERON:0001614	75.16	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	75.07	gold quality
skeletal muscle tissue	UBERON:0001134	74.99	gold quality
cerebellar vermis	UBERON:0004720	74.34	gold quality
calcaneal tendon	UBERON:0003701	74.12	gold quality
stromal cell of endometrium	CL:0002255	73.91	gold quality
vena cava	UBERON:0004087	73.66	gold quality
layer of synovial tissue	UBERON:0007616	73.39	silver quality
smooth muscle tissue	UBERON:0001135	73.08	gold quality
secondary oocyte	CL:0000655	72.96	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.69

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

144 targeting ZNF527, 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-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609

Literature-anchored findings (GeneRIF, showing 1)

• A high polymorphic ZNF527 allele frequency implies that rs386809049 polymorphism in ZNF527 gene cannot be the major cause of intellectual disability in the Ukrainian population. (PMID:26419067)

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), ZKSCAN7 (ENSG00000196345), ZNF34 (ENSG00000196378), ZNF774 (ENSG00000196391), ZNF777 (ENSG00000196453)

Protein

Protein identifiers

Zinc finger protein 527 — Q8NB42 (reviewed: Q8NB42)

All UniProt accessions (6): A0A0A0MRD3, Q8NB42, K7ELI5, K7ENX6, K7ES26, Q0P6G1

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?
Q8NB42-1	1	yes
Q8NB42-2	2

RefSeq proteins (1): NP_115829* (*=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, PF13465

UniProt features (17 total): zinc finger region 12, sequence conflict 2, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NB42-F1	64.20	0.14

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 59 (showing top): GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, CHAF1B_TARGET_GENES, HAND1_TARGET_GENES, RBM34_TARGET_GENES, SALL4_TARGET_GENES, UBN1_TARGET_GENES, ZNF618_TARGET_GENES, ZSCAN31_TARGET_GENES, MIR616_5P, MIR371B_5P, MIR373_5P, MIR4262, MIR3671, MIR548N

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)

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
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

148 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF527	NUFIP2	Q7Z417	480
ZNF527	KLHL3	Q9UH77	474
ZNF527	DPT	Q07507	417
ZNF527	LRRC15	Q8TF66	223
ZNF527	TOP3A	Q13472	174
ZNF527	VCAN	P13611	102
ZNF527	MVK	Q03426	64
ZNF527	NME8	Q8N427	62
ZNF527	MED14	O60244	57
ZNF527	JUN	P05412	57
ZNF527	TRIM28	Q13263	49
ZNF527	SPATA17	Q96L03	49
ZNF527	SCYL3	Q8IZE3	48
ZNF527	KPNA5	O15131	48
ZNF527	KIN	O60870	48

IntAct

4 interactions, top by confidence:

A	B	Type	Score
TRIM28	ZNF320	psi-mi:“MI:0914”(association)	0.530
ZNF527	ECE1	psi-mi:“MI:0915”(physical association)	0.370
M		psi-mi:“MI:0914”(association)	0.350

BioGRID (3): ZNF527 (Affinity Capture-MS), ZNF527 (Affinity Capture-MS), ZNF527 (Proximity Label-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: A0A1W2PQL4, A6NK75, A6NN14, A6NNF4, A6NP11, A8MQ14, A8MTY0, A8MUV8, A8MXY4, B4DX44, B4DXR9, E9PYI1, O14628, O43345, O75290, O75346, O75373, O75437, O95780, P0CB33, P0DKX0, P0DPD5, P16373, P17019, P17038, P21506, P35789, P52736, P52738, P52744, Q03923, Q03924, Q03936, Q03938, Q05481, Q14586, Q14593, Q14929, Q15928, Q3KNS6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	55
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

793 predictions. Top by Δscore:

Variant	Effect	Δscore
19:37371222:GGGAG:G	donor_gain	1.0000
19:37371223:GGAGG:G	donor_gain	1.0000
19:37371224:GAG:G	donor_gain	1.0000
19:37371228:T:A	donor_loss	1.0000
19:37374228:CCAGG:C	donor_loss	1.0000
19:37374230:AGGTA:A	donor_loss	1.0000
19:37374231:GGT:G	donor_loss	1.0000
19:37374232:GTAA:G	donor_loss	1.0000
19:37374233:T:A	donor_loss	1.0000
19:37379115:TTCA:T	acceptor_loss	1.0000
19:37379116:TCAG:T	acceptor_loss	1.0000
19:37379117:CAGG:C	acceptor_loss	1.0000
19:37379118:A:AC	acceptor_loss	1.0000
19:37379118:AGG:A	acceptor_gain	1.0000
19:37379118:AGGG:A	acceptor_gain	1.0000
19:37379119:GGG:G	acceptor_gain	1.0000
19:37379119:GGGG:G	acceptor_gain	1.0000
19:37379242:GCTTG:G	donor_gain	1.0000
19:37379245:TGGT:T	donor_loss	1.0000
19:37379247:G:GG	donor_gain	1.0000
19:37379252:G:GT	donor_gain	1.0000
19:37371223:GGAG:G	donor_gain	0.9900
19:37371224:GAGG:G	donor_gain	0.9900
19:37371227:G:GG	donor_gain	0.9900
19:37374232:G:GG	donor_gain	0.9900
19:37379118:A:AG	acceptor_gain	0.9900
19:37379118:AG:A	acceptor_gain	0.9900
19:37379119:G:GT	acceptor_gain	0.9900
19:37379119:GG:G	acceptor_gain	0.9900
19:37379119:GGGGT:G	acceptor_gain	0.9900

AlphaMissense

4111 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:37389232:T:C	F395L	0.999
19:37389234:C:A	F395L	0.999
19:37389234:C:G	F395L	0.999
19:37389251:T:C	L401P	0.999
19:37389316:T:C	F423L	0.999
19:37389318:C:A	F423L	0.999
19:37389318:C:G	F423L	0.999
19:37389064:T:C	F339L	0.998
19:37389066:C:A	F339L	0.998
19:37389066:C:G	F339L	0.998
19:37389148:T:C	F367L	0.998
19:37389150:T:A	F367L	0.998
19:37389150:T:G	F367L	0.998
19:37389257:A:C	Q403P	0.998
19:37389400:T:C	F451L	0.998
19:37389402:T:A	F451L	0.998
19:37389402:T:G	F451L	0.998
19:37389177:T:A	H376Q	0.997
19:37389177:T:G	H376Q	0.997
19:37389261:T:A	H404Q	0.997
19:37389261:T:G	H404Q	0.997
19:37389509:G:C	R487P	0.997
19:37389568:T:C	F507L	0.997
19:37389570:C:A	F507L	0.997
19:37389570:C:G	F507L	0.997
19:37389652:T:C	F535L	0.997
19:37389654:C:A	F535L	0.997
19:37389654:C:G	F535L	0.997
19:37389259:C:G	H404D	0.996
19:37389335:T:C	L429P	0.996

dbSNP variants (sampled 300 via entrez): RS1000088670 (19:37369401 T>G), RS1000151003 (19:37382792 C>T), RS1000273292 (19:37389632 G>A), RS1000325377 (19:37375213 C>T), RS1000484673 (19:37383653 A>C,G), RS1000710958 (19:37389987 T>A), RS1000712510 (19:37391236 CA>C), RS1000768911 (19:37382377 T>G), RS1000816915 (19:37382176 T>C), RS1000876096 (19:37376671 A>G), RS1001240231 (19:37369525 A>G), RS1001311608 (19:37391522 T>G), RS1001484245 (19:37383729 G>A), RS1001846802 (19:37371006 T>C), RS1001876823 (19:37378330 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

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
Air Pollutants	affects expression, increases abundance	1
Arsenic	affects methylation	1
Ozone	affects expression, increases abundance	1
Sodium Dodecyl Sulfate	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Antirheumatic Agents	increases expression	1
Copper Sulfate	increases expression	1
Magnetite Nanoparticles	decreases expression, increases methylation	1

Clinical trials (associated diseases)

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