ZNF614

Summary

ZNF614 (zinc finger protein 614, HGNC:24722) is a protein-coding gene on chromosome 19q13.41, encoding Zinc finger protein 614 (Q8N883). May be involved in transcriptional regulation.

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription 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 80110 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 81 total
• MANE Select transcript: NM_025040

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24722
Approved symbol	ZNF614
Name	zinc finger protein 614
Location	19q13.41
Locus type	gene with protein product
Status	Approved
Aliases	FLJ21941
Ensembl gene	ENSG00000142556
Ensembl biotype	protein_coding
Entrez	80110

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 nonsense_mediated_decay

ENST00000270649, ENST00000356322, ENST00000595189, ENST00000597952, ENST00000935618, ENST00000935619, ENST00000960631

RefSeq mRNA: 1 — MANE Select: NM_025040 NM_025040

CCDS: CCDS12847

Canonical transcript exons

ENST00000270649 — 5 exons

Exon	Start	End
ENSE00001358807	52013324	52017359
ENSE00001359044	52028242	52028379
ENSE00001431105	52025731	52025961
ENSE00002467141	52018008	52018103
ENSE00002487978	52018368	52018494

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 91.90.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.5789 / max 139.9218, expressed in 1720 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182513	9.0967	1709
182512	0.4821	240

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	91.90	gold quality
sperm	CL:0000019	83.80	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.51	gold quality
male germ cell	CL:0000015	83.08	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.67	gold quality
cortical plate	UBERON:0005343	82.67	gold quality
calcaneal tendon	UBERON:0003701	80.10	gold quality
ganglionic eminence	UBERON:0004023	79.48	gold quality
ventricular zone	UBERON:0003053	78.73	gold quality
adrenal tissue	UBERON:0018303	77.51	gold quality
left ventricle myocardium	UBERON:0006566	76.99	silver quality
endothelial cell	CL:0000115	76.87	silver quality
cardiac muscle of right atrium	UBERON:0003379	76.85	silver quality
smooth muscle tissue	UBERON:0001135	76.61	gold quality
stromal cell of endometrium	CL:0002255	76.54	gold quality
islet of Langerhans	UBERON:0000006	76.17	gold quality
myocardium	UBERON:0002349	75.81	silver quality
mammary duct	UBERON:0001765	75.63	gold quality
gastrocnemius	UBERON:0001388	75.46	gold quality
prostate gland	UBERON:0002367	75.34	gold quality
cauda epididymis	UBERON:0004360	75.30	gold quality
muscle of leg	UBERON:0001383	75.24	gold quality
cerebellar hemisphere	UBERON:0002245	75.09	gold quality
cerebellar cortex	UBERON:0002129	75.08	gold quality
embryo	UBERON:0000922	74.78	gold quality
ovary	UBERON:0000992	74.74	gold quality
cerebellum	UBERON:0002037	74.45	gold quality
granulocyte	CL:0000094	74.30	gold quality
epithelium of mammary gland	UBERON:0003244	74.29	gold quality
right hemisphere of cerebellum	UBERON:0014890	74.26	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.36
E-MTAB-6142	no	88.80

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

90 targeting ZNF614, 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-3163	100.00	77.23	8605
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4282	99.99	75.36	6408
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-302C-5P	99.97	72.56	3642
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-8067	99.86	69.59	2260

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
drosophila_melanogaster	CG2712	FBGN0024975
drosophila_melanogaster	Phs	FBGN0036522
drosophila_melanogaster	CG3281	FBGN0260741

Paralogs (62): ZNF582 (ENSG00000018869), ZNF264 (ENSG00000083844), ZNF343 (ENSG00000088876), ZNF684 (ENSG00000117010), ZNF133 (ENSG00000125846), ZNF557 (ENSG00000130544), ZNF337 (ENSG00000130684), ZNF20 (ENSG00000132010), ZFP37 (ENSG00000136866), KRBOX4 (ENSG00000147121), ZNF599 (ENSG00000153896), ZNF19 (ENSG00000157429), ZNF589 (ENSG00000164048), PRDM9 (ENSG00000164256), ZNF180 (ENSG00000167384), ZNF558 (ENSG00000167785), ZNF35 (ENSG00000169981), ZNF778 (ENSG00000170100), ZNF439 (ENSG00000171291), ZNF440 (ENSG00000171295), ZNF556 (ENSG00000172000), ZNF554 (ENSG00000172006), ZNF596 (ENSG00000172748), ZNF80 (ENSG00000174255), ZNF266 (ENSG00000174652), ZNF25 (ENSG00000175395), ZNF77 (ENSG00000175691), ZNF169 (ENSG00000175787), ZNF404 (ENSG00000176222), ZNF491 (ENSG00000177599), ZNF620 (ENSG00000177842), ZNF619 (ENSG00000177873), ZNF875 (ENSG00000181666), ZNF329 (ENSG00000181894), ZFP90 (ENSG00000184939), ZNF566 (ENSG00000186017), ZNF529 (ENSG00000186020), ZNF749 (ENSG00000186230), ZNF555 (ENSG00000186300), ZNF70 (ENSG00000187792)

Protein

Protein identifiers

Zinc finger protein 614 — Q8N883 (reviewed: Q8N883)

All UniProt accessions (3): Q8N883, M0QYG4, M0R1H2

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?
Q8N883-1	1	yes
Q8N883-2	2

RefSeq proteins (1): NP_079316* (*=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
IPR050752	C2H2-ZF_domain	Family

Pfam: PF00096, PF01352

UniProt features (21 total): zinc finger region 12, sequence variant 4, splice variant 2, chain 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N883-F1	65.18	0.18

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 68 (showing top): VERNELL_RETINOBLASTOMA_PATHWAY_DN, FISCHER_G2_M_CELL_CYCLE, DODD_NASOPHARYNGEAL_CARCINOMA_UP, BASAKI_YBX1_TARGETS_DN, GAZDA_DIAMOND_BLACKFAN_ANEMIA_ERYTHROID_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, LU_EZH2_TARGETS_DN, IL15_UP.V1_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, CIITA_TARGET_GENES, DIDO1_TARGET_GENES, E2F5_TARGET_GENES, H1_6_TARGET_GENES, HAND1_TARGET_GENES, LMTK3_TARGET_GENES

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

GO Molecular Function (7): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), 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), sequence-specific double-stranded DNA binding (GO:1990837)

GO Cellular Component (1): nucleus (GO:0005634)

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
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
transcription cis-regulatory region binding	1
chromatin	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	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
double-stranded DNA binding	1
sequence-specific DNA binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

532 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF614	CCNYL1	Q8N7R7	544
ZNF614	SYT9	Q86SS6	540
ZNF614	CLRN3	Q8NCR9	537
ZNF614	TUBG2	Q9NRH3	508
ZNF614	ST6GAL2	Q96JF0	507
ZNF614	CD300LB	A8K4G0	491
ZNF614	CAMSAP1	Q5T5Y3	489
ZNF614	AJAP1	Q9UKB5	478
ZNF614	CYB5R2	Q6BCY4	462
ZNF614	LPXN	O60711	458
ZNF614	SMC6	Q96SB8	456
ZNF614	GPD1L	Q8N335	447
ZNF614	HS3ST2	Q9Y278	445
ZNF614	CEP164	Q9UPV0	438
ZNF614	RCVRN	P35243	417

IntAct

15 interactions, top by confidence:

A	B	Type	Score
NFIX	ZNF614	psi-mi:“MI:0915”(physical association)	0.560
ZNF614	FAM9B	psi-mi:“MI:0915”(physical association)	0.560
ZNF614	NFIX	psi-mi:“MI:0915”(physical association)	0.560
FAM9B	ZNF614	psi-mi:“MI:0915”(physical association)	0.560
tax	ZNF614	psi-mi:“MI:0915”(physical association)	0.560
ZNF614	tax	psi-mi:“MI:0915”(physical association)	0.560
SLC9A8	ZNF432	psi-mi:“MI:0914”(association)	0.530
ZNF614	tax	psi-mi:“MI:0915”(physical association)	0.490
ZNF614	PPM1G	psi-mi:“MI:0914”(association)	0.350
SLC9A8	AP1G1	psi-mi:“MI:0914”(association)	0.350

BioGRID (9): ZNF614 (Two-hybrid), FAM9B (Two-hybrid), ZNF614 (Affinity Capture-MS), ZNF614 (Affinity Capture-RNA), ZNF614 (Affinity Capture-MS), ZNF614 (Affinity Capture-MS), ZNF614 (Affinity Capture-RNA), ZNF614 (Affinity Capture-MS), ZNF614 (Affinity Capture-MS)

ESM2 similar proteins: A0A1W2PQL4, A0JPL0, A2RRD8, A6NHJ4, A6NP11, B4DX44, O75346, O95780, P0CB33, P21506, P51508, P52738, Q0D2J5, Q0VGE8, Q12901, Q13360, Q14593, Q15973, Q2M218, Q2M3X9, Q2VY69, Q3SXZ3, Q5HY98, Q5RCJ2, Q5VIY5, Q6J6I6, Q7L2R6, Q86XU0, Q86Y25, Q8IW36, Q8IYN0, Q8IYX0, Q8N782, Q8N883, Q8N9Z0, Q8NDP4, Q95K49, Q969W8, Q96H40, Q96N58

Diamond homologs: A0A1W2PQL4, A0JNB1, A0JPL0, A6NK53, A6QLU5, A6QPT6, A7MBI1, A8MT65, A8MUV8, A8MWA4, B2RXC5, B4DU55, B4DX44, E9PYI1, O14628, O75346, P0CH99, P0CI00, P17014, P17030, P17032, P17098, P51786, P85977, Q02386, Q06730, Q06732, Q0VAW7, Q12901, Q13360, Q14586, Q14588, Q14590, Q16587, Q2M3X9, Q2VY69, Q32M78, Q3ZCX4, Q49AA0, Q4R6J4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	69
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

569 predictions. Top by Δscore:

Variant	Effect	Δscore
19:52018004:TTACC:T	donor_loss	1.0000
19:52018005:TACCT:T	donor_loss	1.0000
19:52018006:A:C	donor_loss	1.0000
19:52018007:C:CG	donor_loss	1.0000
19:52018100:TACC:T	acceptor_gain	1.0000
19:52018102:CC:C	acceptor_gain	1.0000
19:52018103:CCTG:C	acceptor_gain	1.0000
19:52018104:C:CC	acceptor_gain	1.0000
19:52018109:CA:C	acceptor_gain	1.0000
19:52018110:A:AC	acceptor_gain	1.0000
19:52018110:A:C	acceptor_gain	1.0000
19:52018363:CTTAC:C	donor_loss	1.0000
19:52018365:TACCC:T	donor_loss	1.0000
19:52018366:A:AC	donor_gain	1.0000
19:52018366:AC:A	donor_gain	1.0000
19:52018367:C:A	donor_loss	1.0000
19:52018367:C:CC	donor_gain	1.0000
19:52018367:CC:C	donor_gain	1.0000
19:52018490:GATTC:G	acceptor_gain	1.0000
19:52018491:ATTC:A	acceptor_gain	1.0000
19:52018492:TTC:T	acceptor_gain	1.0000
19:52018492:TTCC:T	acceptor_loss	1.0000
19:52018493:TC:T	acceptor_gain	1.0000
19:52018493:TCCT:T	acceptor_loss	1.0000
19:52018494:CC:C	acceptor_gain	1.0000
19:52018495:C:CC	acceptor_gain	1.0000
19:52018495:C:CG	acceptor_loss	1.0000
19:52018496:T:G	acceptor_loss	1.0000
19:52017357:TTCCT:T	acceptor_loss	0.9900
19:52017358:TCC:T	acceptor_loss	0.9900

AlphaMissense

3904 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:52015954:G:C	F548L	0.999
19:52015954:G:T	F548L	0.999
19:52015956:A:G	F548L	0.999
19:52016038:G:C	F520L	0.999
19:52016038:G:T	F520L	0.999
19:52016040:A:G	F520L	0.999
19:52016206:G:C	F464L	0.999
19:52016206:G:T	F464L	0.999
19:52016208:A:G	F464L	0.999
19:52016258:C:G	R447P	0.999
19:52016290:G:C	F436L	0.999
19:52016290:G:T	F436L	0.999
19:52016292:A:G	F436L	0.999
19:52016542:G:C	F352L	0.999
19:52016542:G:T	F352L	0.999
19:52016544:A:G	F352L	0.999
19:52016594:C:G	R335P	0.999
19:52016626:G:C	F324L	0.999
19:52016626:G:T	F324L	0.999
19:52016628:A:G	F324L	0.999
19:52016093:T:G	Q502P	0.998
19:52016105:A:G	L498P	0.998
19:52016273:A:G	L442P	0.998
19:52016291:A:G	F436S	0.998
19:52016342:C:G	R419P	0.998
19:52016374:G:C	F408L	0.998
19:52016374:G:T	F408L	0.998
19:52016376:A:G	F408L	0.998
19:52016458:A:C	F380L	0.998
19:52016458:A:T	F380L	0.998

dbSNP variants (sampled 300 via entrez): RS1000049430 (19:52025036 G>A), RS1000101543 (19:52025367 T>C), RS1000291812 (19:52021633 T>C), RS1000302024 (19:52028401 G>A,C), RS1000402411 (19:52021894 G>C), RS1000410902 (19:52022318 G>A,C,T), RS1000690850 (19:52013354 T>C), RS1000743021 (19:52013602 T>A,G), RS1000852094 (19:52013727 A>G), RS1001054013 (19:52026605 A>G), RS1001635814 (19:52022639 C>G,T), RS1001695939 (19:52014886 C>T), RS1001998126 (19:52021919 T>G), RS1002025728 (19:52022373 C>T), RS1002509700 (19:52029178 TAGA>T)

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

3 associations (top):

Study	Trait	p-value
GCST002291_3	Bronchodilator response in asthma (inhaled corticosteroid treatment interaction)	5.000000e-08
GCST007277_24	Tourette syndrome	9.000000e-07
GCST009391_1211	Metabolite levels	9.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010419	triacylglycerol 54:1 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
Valproic Acid	affects expression, decreases expression	3
Arsenic	affects cotreatment, increases abundance, increases expression, decreases expression	2
Cyclosporine	decreases expression, increases expression	2
Aflatoxin B1	affects expression, increases methylation	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	increases phosphorylation	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
perfluorooctanoic acid	decreases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1
jinfukang	decreases expression	1
Acetaminophen	decreases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	decreases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	decreases expression	1
Formaldehyde	decreases expression	1
Manganese	increases expression, affects cotreatment, increases abundance	1
Methotrexate	increases expression	1
Plant Oils	increases expression	1

Clinical trials (associated diseases)

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