ZNF114

Summary

ZNF114 (zinc finger protein 114, HGNC:12894) is a protein-coding gene on chromosome 19q13.33, encoding Zinc finger protein 114 (Q8NC26). May be involved in transcriptional regulation.

Enables identical protein binding activity. Predicted to be involved in regulation of DNA-templated transcription. Located in extracellular exosome.

Source: NCBI Gene 163071 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 63 total
• MANE Select transcript: NM_153608

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12894
Approved symbol	ZNF114
Name	zinc finger protein 114
Location	19q13.33
Locus type	gene with protein product
Status	Approved
Aliases	MGC17986
Ensembl gene	ENSG00000178150
Ensembl biotype	protein_coding
OMIM	603996
Entrez	163071

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 12 protein_coding, 1 retained_intron

ENST00000315849, ENST00000594024, ENST00000595408, ENST00000595607, ENST00000598898, ENST00000600687, ENST00000601320, ENST00000888399, ENST00000888400, ENST00000912946, ENST00000912947, ENST00000912948, ENST00000912949

RefSeq mRNA: 5 — MANE Select: NM_153608 NM_001331097, NM_001331098, NM_001369811, NM_001369812, NM_153608

CCDS: CCDS12713

Canonical transcript exons

ENST00000595607 — 6 exons

Exon	Start	End
ENSE00001254628	48279731	48279808
ENSE00001254633	48271727	48271828
ENSE00002992897	48271245	48271449
ENSE00003033654	48285761	48287608
ENSE00003061583	48270081	48270219
ENSE00003640483	48282371	48282497

Expression profiles

Bgee: expression breadth ubiquitous, 159 present calls, max score 97.83.

FANTOM5 (CAGE): breadth broad, TPM avg 1.9679 / max 109.7254, expressed in 575 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
176755	1.3867	557
176754	0.5812	109

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	97.83	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.01	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.00	gold quality
endothelial cell	CL:0000115	74.67	silver quality
ventricular zone	UBERON:0003053	72.16	gold quality
ganglionic eminence	UBERON:0004023	69.06	gold quality
thyroid gland	UBERON:0002046	68.84	gold quality
left lobe of thyroid gland	UBERON:0001120	68.82	gold quality
right lobe of thyroid gland	UBERON:0001119	68.23	gold quality
cortical plate	UBERON:0005343	68.20	gold quality
placenta	UBERON:0001987	63.26	gold quality
calcaneal tendon	UBERON:0003701	62.18	gold quality
hypothalamus	UBERON:0001898	60.42	gold quality
amygdala	UBERON:0001876	59.09	gold quality
pigmented layer of retina	UBERON:0001782	59.08	silver quality
C1 segment of cervical spinal cord	UBERON:0006469	58.97	gold quality
endometrium	UBERON:0001295	58.65	gold quality
spinal cord	UBERON:0002240	57.26	gold quality
anterior cingulate cortex	UBERON:0009835	57.17	gold quality
adrenal tissue	UBERON:0018303	57.00	gold quality
prefrontal cortex	UBERON:0000451	55.85	gold quality
endocervix	UBERON:0000458	55.22	gold quality
right coronary artery	UBERON:0001625	55.17	gold quality
tendon	UBERON:0000043	54.93	gold quality
mucosa of stomach	UBERON:0001199	54.78	gold quality
nucleus accumbens	UBERON:0001882	54.59	gold quality
vermiform appendix	UBERON:0001154	54.42	gold quality
body of pancreas	UBERON:0001150	54.33	gold quality
uterus	UBERON:0000995	54.00	gold quality
caudate nucleus	UBERON:0001873	53.99	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.17

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): STAT1

miRNA regulators (miRDB)

30 targeting ZNF114, 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-5193	100.00	67.26	1744
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-3618	99.69	68.57	1012
HSA-MIR-3685	99.62	68.83	1621
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-17-3P	99.55	66.77	1311
HSA-MIR-150-3P	99.43	70.51	920
HSA-MIR-4652-3P	99.33	70.02	2742
HSA-MIR-3160-5P	99.28	69.07	1938
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-155-3P	99.03	67.99	924
HSA-MIR-3124-3P	98.87	68.95	2123
HSA-MIR-934	98.49	70.44	581
HSA-MIR-4726-3P	98.49	63.89	1385
HSA-MIR-4294	97.86	65.72	1110
HSA-MIR-4724-3P	97.57	67.31	785
HSA-MIR-12128	96.67	66.98	1471
HSA-MIR-1238-5P	94.82	67.52	493
HSA-MIR-4758-5P	94.82	67.06	499

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000099025

Paralogs (18): ZNF430 (ENSG00000118620), ZNF92 (ENSG00000146757), ZNF66 (ENSG00000160229), ZNF22 (ENSG00000165512), ZNF680 (ENSG00000173041), ZFP41 (ENSG00000181638), ZNF730 (ENSG00000183850), ZNF479 (ENSG00000185177), ZNF626 (ENSG00000188171), ZNF431 (ENSG00000196705), ZNF100 (ENSG00000197020), ZNF257 (ENSG00000197134), ZNF98 (ENSG00000197360), ZNF675 (ENSG00000197372), ZNF273 (ENSG00000198039), ZNF737 (ENSG00000237440), ZNF253 (ENSG00000256771), ZNF723 (ENSG00000268696)

Protein

Protein identifiers

Zinc finger protein 114 — Q8NC26 (reviewed: Q8NC26)

All UniProt accessions (4): Q8NC26, M0QXN8, M0R0H2, M0R0V4

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?
Q8NC26-1	1	yes
Q8NC26-2	2

RefSeq proteins (5): NP_001318026, NP_001318027, NP_001356740, NP_001356741, NP_705836* (*=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 (12 total): zinc finger region 4, sequence variant 2, region of interest 2, chain 1, domain 1, compositionally biased region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NC26-F1	45.90	0.01

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 33 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, GEORGES_TARGETS_OF_MIR192_AND_MIR215, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, KRIEG_HYPOXIA_NOT_VIA_KDM3A, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, CBX5_TARGET_GENES, CBX7_TARGET_GENES, ZNF350_TARGET_GENES, ZNF362_TARGET_GENES, ZNF512_TARGET_GENES, ZNF512B_TARGET_GENES

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

GO Molecular Function (7): 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), identical protein binding (GO:0042802), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (2): nucleus (GO:0005634), extracellular exosome (GO:0070062)

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
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	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
protein binding	1
nucleic acid binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
extracellular vesicle	1

Protein interactions and networks

STRING

320 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF114	VWCE	Q96DN2	474
ZNF114	FBXW10B	O95170	470
ZNF114	MAN1C1	Q9NR34	418
ZNF114	CMBL	Q96DG6	402
ZNF114	GRHL2	Q6ISB3	380
ZNF114	CSGALNACT1	Q8TDX6	329
ZNF114	RNF114	Q9Y508	325
ZNF114	N4BP2L1	Q5TBK1	324
ZNF114	ANKFN1	Q8N957	319
ZNF114	NSA2	O95478	315
ZNF114	TRIM36	Q9NQ86	314
ZNF114	AMER2	Q8N7J2	314
ZNF114	LMBR1L	Q6UX01	312
ZNF114	ERVV-2	B6SEH9	311
ZNF114	MAGEC3	Q8TD91	303

IntAct

49 interactions, top by confidence:

A	B	Type	Score
CLIP4	ZNF114	psi-mi:“MI:0915”(physical association)	0.780
KLHL2	ZNF114	psi-mi:“MI:0915”(physical association)	0.780
ZNF114	CLIP4	psi-mi:“MI:0915”(physical association)	0.780
ZNF114	KLHL2	psi-mi:“MI:0915”(physical association)	0.780
ZNF114	ZNF114	psi-mi:“MI:0915”(physical association)	0.670
KIAA0753	ZNF114	psi-mi:“MI:0915”(physical association)	0.560
ZNF114	KIAA0753	psi-mi:“MI:0915”(physical association)	0.560
ZNF114	TPPP	psi-mi:“MI:0915”(physical association)	0.560
ZNF114	MAP7	psi-mi:“MI:0915”(physical association)	0.560
ZNF114	SUFU	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	ZNF114	psi-mi:“MI:0915”(physical association)	0.560
TPPP	ZNF114	psi-mi:“MI:0915”(physical association)	0.560
MAP7	ZNF114	psi-mi:“MI:0915”(physical association)	0.560
CENATAC	ZNF114	psi-mi:“MI:0915”(physical association)	0.560
ZNF8	ZNF114	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-6	ZNF114	psi-mi:“MI:0915”(physical association)	0.560
TRIM28	ZNF320	psi-mi:“MI:0914”(association)	0.530
ZNF114	PPP2R1A	psi-mi:“MI:0914”(association)	0.350
ZNF566	IPO8	psi-mi:“MI:0914”(association)	0.350

BioGRID (37): ZNF114 (Two-hybrid), ZNF114 (Two-hybrid), ZNF114 (Two-hybrid), ZNF114 (Two-hybrid), TRIM28 (Affinity Capture-MS), PPP2R1B (Affinity Capture-MS), PPP2R1A (Affinity Capture-MS), CBX5 (Affinity Capture-MS), PPP2R2C (Affinity Capture-MS), PPP2CA (Affinity Capture-MS), CUEDC1 (Affinity Capture-MS), ZNF114 (Affinity Capture-MS), CUEDC1 (Affinity Capture-MS), PPP2R2C (Affinity Capture-MS), PPP2CA (Affinity Capture-MS)

ESM2 similar proteins: A0JPL0, A1L1L7, A7MBI1, A8MT65, B2RXC5, G3X9G7, P0CG31, P21506, P52738, Q02525, Q2KI58, Q2M3W8, Q49AA0, Q4R6J4, Q5FWF6, Q5RB33, Q5RCJ2, Q5RE50, Q5REF1, Q5T5D7, Q5VIY5, Q6V9R5, Q6ZMW2, Q6ZN11, Q6ZNG0, Q86TJ5, Q86XU0, Q8BGV5, Q8N782, Q8N859, Q8N883, Q8N9Z0, Q8NC26, Q8NE65, Q95K49, Q96N20, Q96NG8, Q96NJ3, Q96SR6, Q9BSK1

Diamond homologs: A2RRD8, A6NFI3, A6NM28, A8MUZ8, A8MWA4, B2RUI1, B4DU55, E9Q8G5, O43296, O43361, O75467, O75820, P0CH99, P0CI00, P10078, P16373, P16374, P17021, P17023, P17032, P17097, P17098, P21506, P51786, P52740, Q06732, Q08ER8, Q13106, Q13360, Q13398, Q14592, Q147U1, Q32M78, Q3KQV3, Q3MIS6, Q3SY52, Q571J5, Q5CZA5, Q5HY98, Q5R7I8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	56
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

766 predictions. Top by Δscore:

Variant	Effect	Δscore
19:48270215:GCATA:G	donor_gain	1.0000
19:48270220:G:GG	donor_gain	1.0000
19:48271445:GGGGA:G	donor_gain	1.0000
19:48271446:GGGAG:G	donor_gain	1.0000
19:48271447:GGA:G	donor_gain	1.0000
19:48271448:GAG:G	donor_gain	1.0000
19:48271450:G:GG	donor_gain	1.0000
19:48271463:G:GT	donor_gain	1.0000
19:48271464:A:T	donor_gain	1.0000
19:48271829:G:GG	donor_gain	1.0000
19:48279729:A:AG	acceptor_gain	1.0000
19:48279730:G:GG	acceptor_gain	1.0000
19:48282365:TTTTA:T	acceptor_loss	1.0000
19:48282366:TTTA:T	acceptor_loss	1.0000
19:48282367:TTAG:T	acceptor_loss	1.0000
19:48282368:TAGG:T	acceptor_loss	1.0000
19:48282369:A:AG	acceptor_gain	1.0000
19:48282369:AG:A	acceptor_gain	1.0000
19:48282370:G:GC	acceptor_loss	1.0000
19:48282370:G:GG	acceptor_gain	1.0000
19:48282370:GG:G	acceptor_gain	1.0000
19:48282370:GGA:G	acceptor_gain	1.0000
19:48282495:TAG:T	donor_gain	1.0000
19:48282496:AG:A	donor_gain	1.0000
19:48282497:GG:G	donor_gain	1.0000
19:48282498:G:C	donor_loss	1.0000
19:48282498:G:GG	donor_gain	1.0000
19:48282499:T:G	donor_loss	1.0000
19:48285759:A:AG	acceptor_gain	1.0000
19:48285760:G:GG	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000291817 (19:48277490 T>C), RS1000617838 (19:48276335 T>C), RS1000849279 (19:48271094 G>A), RS1000852077 (19:48281378 C>A), RS1000874244 (19:48273411 TTTTTC>T,TTTTTCTTTTC), RS1000902189 (19:48275799 G>A), RS1000945850 (19:48268104 A>G), RS1001020847 (19:48286958 G>A), RS1001125520 (19:48269109 C>A), RS1001309535 (19:48277147 T>A), RS1001549211 (19:48282345 G>A,C), RS1001562229 (19:48270180 G>A,C), RS1001605865 (19:48270648 G>A,C), RS1001611767 (19:48276935 G>T), RS1001735047 (19:48276669 G>A)

Disease associations

OMIM: gene MIM:603996 | 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

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases expression, increases methylation	5
Estradiol	affects binding, increases expression	3
Valproic Acid	affects expression, decreases expression, increases methylation	3
sodium arsenite	increases expression	2
Cisplatin	affects cotreatment, increases expression	2
Cyclosporine	increases expression, decreases expression	2
Aflatoxin B1	affects expression, increases methylation	2
Cadmium Chloride	increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
dimethylselenide	increases expression, increases oxidation	1
mono-(2-ethylhexyl)phthalate	increases abundance, decreases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
abrine	decreases expression	1
perfluorobutanesulfonic acid	decreases expression	1
jinfukang	increases expression, affects cotreatment	1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinone	decreases expression	1
Arsenic Trioxide	increases expression	1
Leflunomide	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Cadmium	increases expression	1
Calcitriol	increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Diethylhexyl Phthalate	decreases methylation, increases abundance	1
Hydrogen Peroxide	affects expression	1
Lipopolysaccharides	affects response to substance, increases expression, decreases expression	1
Ozone	increases expression, increases oxidation	1
Quercetin	affects expression	1
Silicon Dioxide	increases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Tobacco Smoke Pollution	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_XW03	HEK293 eGFP-ZNF114	Transformed cell line	Female

Clinical trials (associated diseases)

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