ZNF134

Summary

ZNF134 (zinc finger protein 134, HGNC:12918) is a protein-coding gene on chromosome 19q13.43, encoding Zinc finger protein 134 (P52741). May be involved in transcriptional regulation.

Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Located in nucleoplasm.

Source: NCBI Gene 7693 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 71 total
• MANE Select transcript: NM_003435

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12918
Approved symbol	ZNF134
Name	zinc finger protein 134
Location	19q13.43
Locus type	gene with protein product
Status	Approved
Aliases	pHZ-15
Ensembl gene	ENSG00000213762
Ensembl biotype	protein_coding
OMIM	604076
Entrez	7693

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000396161, ENST00000597975, ENST00000600344, ENST00000600883, ENST00000948622

RefSeq mRNA: 1 — MANE Select: NM_003435 NM_003435

CCDS: CCDS42638

Canonical transcript exons

ENST00000396161 — 3 exons

Exon	Start	End
ENSE00001524097	57620160	57624724
ENSE00002689514	57619412	57619508
ENSE00003226314	57614242	57614503

Expression profiles

Bgee: expression breadth ubiquitous, 245 present calls, max score 87.31.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.1080 / max 178.7572, expressed in 1801 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
177785	17.1080	1801

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.31	gold quality
secondary oocyte	CL:0000655	86.72	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.21	gold quality
cortical plate	UBERON:0005343	84.76	gold quality
ganglionic eminence	UBERON:0004023	84.71	gold quality
ventricular zone	UBERON:0003053	84.08	gold quality
oocyte	CL:0000023	84.05	gold quality
embryo	UBERON:0000922	83.31	gold quality
colonic epithelium	UBERON:0000397	80.79	gold quality
adrenal tissue	UBERON:0018303	80.52	gold quality
calcaneal tendon	UBERON:0003701	80.19	gold quality
islet of Langerhans	UBERON:0000006	80.16	gold quality
cerebellar cortex	UBERON:0002129	79.90	gold quality
cerebellar hemisphere	UBERON:0002245	79.88	gold quality
tongue squamous epithelium	UBERON:0006919	79.77	gold quality
stromal cell of endometrium	CL:0002255	79.28	gold quality
buccal mucosa cell	CL:0002336	79.26	silver quality
cerebellum	UBERON:0002037	78.80	gold quality
right hemisphere of cerebellum	UBERON:0014890	78.66	gold quality
lower esophagus muscularis layer	UBERON:0035833	78.60	gold quality
lower esophagus	UBERON:0013473	78.59	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	78.04	gold quality
gastrocnemius	UBERON:0001388	78.03	gold quality
muscle of leg	UBERON:0001383	77.93	gold quality
muscle layer of sigmoid colon	UBERON:0035805	77.93	gold quality
heart left ventricle	UBERON:0002084	77.83	gold quality
skin of abdomen	UBERON:0001416	77.78	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	77.70	gold quality
right adrenal gland cortex	UBERON:0035827	77.59	gold quality
cardiac ventricle	UBERON:0002082	77.53	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.72

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
CDKN2A

JASPAR motifs

Motif	Name	Family
MA2491.1	ZNF134	Factors with multiple dispersed zinc fingers

JASPAR matrix evidence (PMIDs): PMID:39605530

miRNA regulators (miRDB)

114 targeting ZNF134, 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-6867-5P	100.00	82.21	3464
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-609	99.82	64.26	505
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-200A-5P	99.76	69.10	949
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-3913-3P	99.74	66.53	938
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-4446-5P	99.72	69.19	2544

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	zfx	ENSDARG00000074453
danio_rerio		ENSDARG00000098424
mus_musculus	Zfy2	ENSMUSG00000000103
mus_musculus	Zfy1	ENSMUSG00000053211
rattus_norvegicus	Zfy1	ENSRNOG00000053042

Paralogs (38): ZFX (ENSG00000005889), ZBTB11 (ENSG00000066422), ZFAT (ENSG00000066827), ZFY (ENSG00000067646), ZNF586 (ENSG00000083828), IKZF5 (ENSG00000095574), ZNF419 (ENSG00000105136), ZNF549 (ENSG00000121406), ZSCAN20 (ENSG00000121903), ZNF304 (ENSG00000131845), PRDM15 (ENSG00000141956), ZNF660 (ENSG00000144792), ZNF711 (ENSG00000147180), ZNF773 (ENSG00000152439), ZNF256 (ENSG00000152454), ZNF837 (ENSG00000152475), ZNF691 (ENSG00000164011), ZNF610 (ENSG00000167554), E4F1 (ENSG00000167967), ZNF562 (ENSG00000171466), ZNF561 (ENSG00000171469), ZNF584 (ENSG00000171574), ZIK1 (ENSG00000171649), ZNF570 (ENSG00000171827), ZSCAN2 (ENSG00000176371), ZNF552 (ENSG00000178935), ZNF154 (ENSG00000179909), ZNF792 (ENSG00000180884), ZNF793 (ENSG00000188227), ZNF548 (ENSG00000188785), ZNF79 (ENSG00000196152), ZNF418 (ENSG00000196724), ZNF772 (ENSG00000197128), ZNF583 (ENSG00000198440), ZNF480 (ENSG00000198464), ZNF551 (ENSG00000204519), ZNF587B (ENSG00000269343), ZNF8 (ENSG00000278129)

Protein

Protein identifiers

Zinc finger protein 134 — P52741 (reviewed: P52741)

All UniProt accessions (3): P52741, M0QXC7, M0R246

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?
P52741-1	1	yes
P52741-2	2

RefSeq proteins (1): NP_003426* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR050826	Krueppel_C2H2_ZnFinger	Family

Pfam: PF00096

UniProt features (19 total): zinc finger region 11, cross-link 3, sequence variant 3, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P52741-F1	66.14	0.34

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 (3): 20, 135, 139

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 103 (showing top): MORF_MSH3, MORF_BRCA1, MORF_ESR1, MORF_RAD51L3, GCM_RING1, GOBP_CYTOKINE_PRODUCTION, MORF_ATF2, DANG_BOUND_BY_MYC, MORF_BCL2L11, MORF_PPP2R5B, GCM_VAV1, MORF_PTEN, BENPORATH_MYC_MAX_TARGETS, STEIN_ESRRA_TARGETS_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING

GO Biological Process (3): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of cytokine production (GO:0001817), regulation of immune system process (GO:0002682)

GO Molecular Function (6): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), 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
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
cytokine production	1
regulation of gene expression	1
regulation of multicellular organismal process	1
immune system process	1
regulation of biological process	1
cis-regulatory region sequence-specific DNA binding	1
negative regulation of transcription by RNA polymerase II	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription repressor activity	1
transition metal ion binding	1
nucleic acid binding	1
binding	1
cation binding	1
nuclear lumen	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

504 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF134	FAXDC2	Q96IV6	576
ZNF134	COPZ1	P61923	507
ZNF134	SLC14A1	Q13336	507
ZNF134	TSPYL4	Q9UJ04	479
ZNF134	EFTUD2	Q15029	434
ZNF134	MAP4K1	Q92918	418
ZNF134	ZNF45	P17016	414
ZNF134	K7ESF6	K7ESF6	414
ZNF134	ZNF44	P15621	406
ZNF134	ZNF629	Q9UEG4	394
ZNF134	ZNF436	Q9C0F3	393
ZNF134	ZNF569	Q5MCW4	393
ZNF134	MAGEB2	O15479	392
ZNF134	EPHX3	Q9H6B9	391
ZNF134	ZNF501	Q96CX3	384

IntAct

11 interactions, top by confidence:

A	B	Type	Score
MFAP1	ZNF134	psi-mi:“MI:0915”(physical association)	0.560
TNS2	ZNF134	psi-mi:“MI:0915”(physical association)	0.560
ZNF134	MFAP1	psi-mi:“MI:0915”(physical association)	0.560
ZNF134	TNS2	psi-mi:“MI:0915”(physical association)	0.560
ZNF134	TRIM41	psi-mi:“MI:0915”(physical association)	0.560
	ZNF134	psi-mi:“MI:0915”(physical association)	0.370
TRIM41	ZNF134	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (2): ZNF134 (Two-hybrid), ZNF134 (Two-hybrid)

ESM2 similar proteins: A0JNB1, A1YF12, A1YG88, A2T759, B2RUI1, O43296, O75123, P10072, P17020, P17021, P17097, P51814, P52740, P52741, Q07230, Q08ER8, Q13398, Q14590, Q32KN0, Q3KQV3, Q3MIS6, Q4V8A8, Q5CZA5, Q5RBQ3, Q5RBX0, Q5RCD9, Q5RCX4, Q6GQR8, Q6NX45, Q6P9A3, Q6PK81, Q7TSH9, Q7TSI0, Q7Z7L9, Q86UD4, Q8BFS8, Q8BLB0, Q8IVP9, Q8IZ26, Q8TAU3

Diamond homologs: A2VDP4, B7Z6K7, D3ZVT0, E7ETH6, E9Q8G5, O43296, O43361, O75290, O75467, O75820, P0CH99, P0CI00, P15621, P17021, P17023, P17024, P17030, P17032, P52740, P52741, Q02525, Q06732, Q08DG8, Q08ER8, Q0VCB0, Q13106, Q13398, Q14587, Q147U1, Q15935, Q2M218, Q2M3X9, Q32M78, Q3KQV3, Q3SY52, Q3V080, Q3ZCX4, Q4R882, Q4V8A8, Q5CZA5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	60
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

520 predictions. Top by Δscore:

Variant	Effect	Δscore
19:57614499:CGCAG:C	donor_loss	0.9900
19:57614501:CAG:C	donor_loss	0.9900
19:57614502:AG:A	donor_loss	0.9900
19:57614503:GG:G	donor_loss	0.9900
19:57614504:GT:G	donor_loss	0.9900
19:57614505:T:G	donor_loss	0.9900
19:57614456:G:GA	donor_gain	0.9700
19:57614455:T:TA	donor_gain	0.9500
19:57624292:A:T	acceptor_gain	0.9500
19:57614489:A:AG	donor_gain	0.9300
19:57614605:G:GT	donor_gain	0.9100
19:57614504:G:GG	donor_gain	0.9000
19:57624293:G:T	acceptor_gain	0.8800
19:57614939:G:GA	donor_gain	0.8700
19:57614500:GCAG:G	donor_gain	0.8600
19:57614904:G:GT	donor_gain	0.8500
19:57614926:G:GT	donor_gain	0.8400
19:57614471:A:AG	donor_gain	0.8100
19:57614606:C:T	donor_gain	0.8100
19:57614622:G:A	donor_gain	0.8000
19:57624291:TA:T	acceptor_gain	0.7900
19:57614938:T:TA	donor_gain	0.7700
19:57620154:CTTCA:C	acceptor_loss	0.7700
19:57620155:TTCA:T	acceptor_loss	0.7700
19:57620156:TCAGG:T	acceptor_loss	0.7700
19:57620157:CAGGT:C	acceptor_loss	0.7700
19:57620158:A:T	acceptor_loss	0.7700
19:57620159:G:GC	acceptor_loss	0.7700
19:57620151:T:A	acceptor_loss	0.7600
19:57620144:ATTTT:A	acceptor_loss	0.7400

AlphaMissense

2878 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:57620756:T:C	F213L	0.998
19:57620758:C:A	F213L	0.998
19:57620758:C:G	F213L	0.998
19:57620840:T:C	F241L	0.997
19:57620842:C:A	F241L	0.997
19:57620842:C:G	F241L	0.997
19:57620847:G:C	R243P	0.997
19:57621260:T:C	F381L	0.997
19:57621262:T:A	F381L	0.997
19:57621262:T:G	F381L	0.997
19:57620672:T:C	F185L	0.996
19:57620674:C:A	F185L	0.996
19:57620674:C:G	F185L	0.996
19:57620763:G:C	R215P	0.996
19:57621008:T:C	F297L	0.996
19:57621010:C:A	F297L	0.996
19:57621010:C:G	F297L	0.996
19:57621092:T:C	F325L	0.996
19:57621094:T:A	F325L	0.996
19:57621094:T:G	F325L	0.996
19:57621279:T:C	L387P	0.996
19:57620785:T:A	H222Q	0.995
19:57620785:T:G	H222Q	0.995
19:57620787:A:C	Q223P	0.995
19:57620859:T:C	L247P	0.995
19:57620924:T:C	F269L	0.995
19:57620926:T:A	F269L	0.995
19:57620926:T:G	F269L	0.995
19:57620943:T:C	L275P	0.995
19:57621291:A:C	Q391P	0.995

dbSNP variants (sampled 300 via entrez): RS1000788055 (19:57617310 G>A), RS1000806093 (19:57621306 G>A,T), RS1000923773 (19:57617049 C>T), RS1000943843 (19:57623547 GAAA>G,GAA,GAAAA), RS1001007071 (19:57615675 C>T), RS1001124470 (19:57619153 A>G), RS1001345612 (19:57616983 T>C), RS1001473328 (19:57616703 G>A), RS1001479425 (19:57623188 A>G), RS1001629097 (19:57624405 C>T), RS1002649293 (19:57614278 C>A,T), RS1002788436 (19:57617725 T>C), RS1002795026 (19:57620003 AGTACT>A), RS1003092054 (19:57617443 A>G), RS1003684866 (19:57613552 C>T)

Disease associations

OMIM: gene MIM:604076 | 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
GCST011383_20	Mastocytosis	6.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs10413455	Efficacy	3	methylphenidate	Attention Deficit Disorder with Hyperactivity

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs10413455	ZNF134	3	0.00	1	methylphenidate

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	2
Smoke	decreases expression, increases abundance	2
Tobacco Smoke Pollution	increases expression	2
aristolochic acid I	increases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
urushiol	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
geraniol	increases expression	1
butyraldehyde	increases expression	1
manganese chloride	increases expression, increases abundance	1
abrine	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	decreases methylation	1
Coal	decreases expression, increases abundance	1
Doxorubicin	decreases expression	1
Formaldehyde	decreases expression	1
Manganese	increases abundance, increases expression	1
Silicon Dioxide	increases expression	1
Testosterone	increases expression	1
Sodium Selenite	decreases expression	1
Copper Sulfate	increases expression	1

Clinical trials (associated diseases)

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