ZFP14

Summary

ZFP14 (ZFP14 zinc finger protein, HGNC:29312) is a protein-coding gene on chromosome 19q13.12, encoding Zinc finger protein 14 homolog (Q9HCL3). 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 act upstream of or within blastocyst hatching. Predicted to be located in membrane. Predicted to be active in nucleus.

Source: NCBI Gene 57677 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 63 total
• MANE Select transcript: NM_020917

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29312
Approved symbol	ZFP14
Name	ZFP14 zinc finger protein
Location	19q13.12
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1559, ZNF531
Ensembl gene	ENSG00000142065
Ensembl biotype	protein_coding
OMIM	620163
Entrez	57677

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000270001, ENST00000589280, ENST00000932313, ENST00000932314

RefSeq mRNA: 2 — MANE Select: NM_020917 NM_001297619, NM_020917

CCDS: CCDS33002

Canonical transcript exons

ENST00000270001 — 5 exons

Exon	Start	End
ENSE00000952043	36360435	36360533
ENSE00001179324	36334453	36341590
ENSE00001376614	36367884	36367971
ENSE00002437943	36379163	36379201
ENSE00002523547	36362112	36362238

Expression profiles

Bgee: expression breadth ubiquitous, 208 present calls, max score 85.77.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.1753 / max 159.4089, expressed in 1243 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
180670	4.1753	1243

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	85.77	gold quality
embryo	UBERON:0000922	80.56	gold quality
ganglionic eminence	UBERON:0004023	80.56	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.74	gold quality
calcaneal tendon	UBERON:0003701	78.64	gold quality
ventricular zone	UBERON:0003053	78.05	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.77	gold quality
corpus callosum	UBERON:0002336	73.78	gold quality
right uterine tube	UBERON:0001302	73.38	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	73.24	gold quality
adrenal tissue	UBERON:0018303	72.91	gold quality
leukocyte	CL:0000738	72.66	gold quality
prefrontal cortex	UBERON:0000451	72.53	gold quality
monocyte	CL:0000576	72.52	gold quality
islet of Langerhans	UBERON:0000006	72.36	gold quality
cerebellar cortex	UBERON:0002129	72.29	gold quality
cerebellar hemisphere	UBERON:0002245	72.21	gold quality
spinal cord	UBERON:0002240	71.64	gold quality
stromal cell of endometrium	CL:0002255	71.49	gold quality
cerebellum	UBERON:0002037	71.48	gold quality
primary visual cortex	UBERON:0002436	71.45	gold quality
Brodmann (1909) area 9	UBERON:0013540	71.40	gold quality
right hemisphere of cerebellum	UBERON:0014890	70.73	gold quality
right coronary artery	UBERON:0001625	70.57	gold quality
colonic epithelium	UBERON:0000397	70.56	silver quality
smooth muscle tissue	UBERON:0001135	70.56	gold quality
lymph node	UBERON:0000029	70.52	gold quality
neocortex	UBERON:0001950	70.48	gold quality
bone marrow cell	CL:0002092	70.43	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	70.25	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	5.93

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA1972.1	ZFP14	Factors with multiple dispersed zinc fingers

JASPAR matrix evidence (PMIDs): PMID:28092692

miRNA regulators (miRDB)

185 targeting ZFP14, 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-4262	100.00	73.26	3931
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4425	100.00	67.59	1049
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-3185	99.99	68.12	1959
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Zfp14	ENSMUSG00000053985
rattus_norvegicus	Zfp14	ENSRNOG00000030932

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), 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), ZNF3 (ENSG00000166526)

Protein

Protein identifiers

Zinc finger protein 14 homolog — Q9HCL3 (reviewed: Q9HCL3)

Alternative names: Zinc finger protein 531

All UniProt accessions (2): Q9HCL3, K7EM99

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.

RefSeq proteins (2): NP_001284548, NP_065968* (*=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
IPR050758	Znf_C2H2-type	Family

Pfam: PF00096, PF01352, PF13912

UniProt features (15 total): zinc finger region 13, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HCL3-F1	71.16	0.02

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 117 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, GCM_MAP4K4, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GCM_PTPRD, GCM_ZNF198, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_BLASTOCYST_DEVELOPMENT, GCM_SUFU, GOBP_EMBRYO_DEVELOPMENT, BREDEMEYER_RAG_SIGNALING_NOT_VIA_ATM_UP, GCM_MAP1B, GCM_PTK2, BOYLAN_MULTIPLE_MYELOMA_PCA3_UP, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GCM_RAN

GO Biological Process (3): blastocyst hatching (GO:0001835), regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355)

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), 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
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
blastocyst development	1
hatching	1
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
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

724 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZFP14	CCDC24	Q8N4L8	409
ZFP14	THNSL1	Q8IYQ7	401
ZFP14	OR4C11	Q6IEV9	399
ZFP14	TMEM217	Q8N7C4	395
ZFP14	OR4A5	Q8NH83	392
ZFP14	TMEM217B	A0A494BZU4	386
ZFP14	RSPH14	Q9UHP6	385
ZFP14	HAUS5	O94927	383
ZFP14	ANKRD7	Q92527	382
ZFP14	OR4P4	Q8NGL7	375
ZFP14	OR4C12	Q96R67	367
ZFP14	OR4S2	Q8NH73	358
ZFP14	OR2T11	Q8NH01	357
ZFP14	CDK2AP2	O75956	355
ZFP14	SMIM14	Q96QK8	349

IntAct

11 interactions, top by confidence:

A	B	Type	Score
MAGOHB	ZFP14	psi-mi:“MI:0915”(physical association)	0.560
ZFP14	MAGT1	psi-mi:“MI:0915”(physical association)	0.400
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350
ZFP14	IPO8	psi-mi:“MI:0914”(association)	0.350
CDK11A	PRPF40A	psi-mi:“MI:0914”(association)	0.350
HK1	ANXA2P2	psi-mi:“MI:2364”(proximity)	0.270
EPHA2	ARHGAP32	psi-mi:“MI:2364”(proximity)	0.270
MERTK	NDUFA4	psi-mi:“MI:2364”(proximity)	0.270
MAGOHB	ZFP14	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (8): ZFP14 (Proximity Label-MS), ZFP14 (Two-hybrid), ZFP14 (Proximity Label-MS), ZFP14 (Affinity Capture-MS), ZFP14 (Affinity Capture-MS), ZFP14 (Proximity Label-MS), ZFP14 (Proximity Label-MS), ZFP14 (Affinity Capture-MS)

ESM2 similar proteins: A2RRD8, A6NHJ4, B4DX44, O75346, P10077, P10755, P15621, P16372, P16373, P51786, P52737, P85977, Q0VGE8, Q14588, Q147U1, Q15928, Q15973, Q2M3X9, Q3KNS6, Q3MIS6, Q494X3, Q5HY98, Q5RBQ3, Q5REK1, Q5VIY5, Q60585, Q61751, Q6GQR8, Q7L2R6, Q7TSH9, Q8IYX0, Q8N782, Q8N823, Q8N988, Q8N9F8, Q8NA42, Q8NCK3, Q8NDP4, Q8NEP9, Q8TC21

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	53
Likely benign	0
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

854 predictions. Top by Δscore:

Variant	Effect	Δscore
19:36367878:ACTT:A	donor_loss	1.0000
19:36367879:CTTA:C	donor_loss	1.0000
19:36367880:TTA:T	donor_loss	1.0000
19:36367881:TA:T	donor_loss	1.0000
19:36367882:A:AC	donor_gain	1.0000
19:36367882:ACA:A	donor_loss	1.0000
19:36367883:C:CC	donor_gain	1.0000
19:36367883:CA:C	donor_gain	1.0000
19:36367883:CATGG:C	donor_gain	1.0000
19:36367967:CAGAG:C	acceptor_gain	1.0000
19:36367969:GAG:G	acceptor_gain	1.0000
19:36367970:AG:A	acceptor_gain	1.0000
19:36367971:GCTGA:G	acceptor_loss	1.0000
19:36367972:C:CC	acceptor_gain	1.0000
19:36367972:CTGAA:C	acceptor_loss	1.0000
19:36379159:TCA:T	donor_loss	1.0000
19:36379160:CAC:C	donor_loss	1.0000
19:36360459:C:A	donor_gain	0.9900
19:36362106:CCTTA:C	donor_loss	0.9900
19:36362107:CTTAC:C	donor_loss	0.9900
19:36362108:TTA:T	donor_loss	0.9900
19:36362109:TA:T	donor_loss	0.9900
19:36362110:A:C	donor_loss	0.9900
19:36362111:C:CA	donor_loss	0.9900
19:36362151:C:A	donor_gain	0.9900
19:36362237:CC:C	acceptor_gain	0.9900
19:36362238:CC:C	acceptor_gain	0.9900
19:36362238:CCTGA:C	acceptor_loss	0.9900
19:36362239:C:CG	acceptor_loss	0.9900
19:36367877:AACTT:A	donor_loss	0.9900

AlphaMissense

3560 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:36341115:A:C	F237L	0.996
19:36341115:A:T	F237L	0.996
19:36341117:A:G	F237L	0.996
19:36341199:A:C	F209L	0.996
19:36341199:A:T	F209L	0.996
19:36341201:A:G	F209L	0.996
19:36341031:A:C	F265L	0.995
19:36341031:A:T	F265L	0.995
19:36341033:A:G	F265L	0.995
19:36340527:A:C	F433L	0.992
19:36340527:A:T	F433L	0.992
19:36340529:A:G	F433L	0.992
19:36340779:A:C	F349L	0.992
19:36340779:A:T	F349L	0.992
19:36340781:A:G	F349L	0.992
19:36340359:A:C	F489L	0.991
19:36340359:A:T	F489L	0.991
19:36340361:A:G	F489L	0.991
19:36340443:A:C	F461L	0.991
19:36340443:A:T	F461L	0.991
19:36340445:A:G	F461L	0.991
19:36340947:A:C	F293L	0.991
19:36340947:A:T	F293L	0.991
19:36340949:A:G	F293L	0.991
19:36340275:A:C	F517L	0.990
19:36340275:A:T	F517L	0.990
19:36340277:A:G	F517L	0.990
19:36340611:A:C	F405L	0.990
19:36340611:A:T	F405L	0.990
19:36340613:A:G	F405L	0.990

dbSNP variants (sampled 300 via entrez): RS1000003085 (19:36357783 C>T), RS1000111521 (19:36334229 G>A), RS1000119981 (19:36375675 A>G), RS1000227997 (19:36334003 A>T), RS1000285303 (19:36363484 C>A,G,T), RS1000316620 (19:36380940 AGT>A), RS1000422334 (19:36363198 T>C), RS1000538281 (19:36379385 A>C), RS1000543558 (19:36345761 C>G), RS1000608563 (19:36356553 C>G,T), RS1000729282 (19:36338804 C>T), RS1000782316 (19:36346171 G>C), RS1000809330 (19:36380571 C>T), RS1000812057 (19:36356261 T>C), RS1000900335 (19:36346463 CT>C,CTT,CTTT)

Disease associations

OMIM: gene MIM:620163 | 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
GCST004250_19	Alanine aminotransferase (ALT) levels after remission induction therapy in actute lymphoblastic leukemia (ALL)	2.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007965	response to combination chemotherapy

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	7
Air Pollutants	affects expression, increases abundance, decreases expression	4
trichostatin A	affects cotreatment, decreases expression	3
entinostat	decreases expression, affects cotreatment	2
Panobinostat	affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
bisphenol F	increases methylation	1
TAK-243	increases sumoylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
2-methyl-4-isothiazolin-3-one	decreases expression	1
sodium arsenite	decreases expression	1
aflatoxin B2	affects methylation	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	affects cotreatment, increases expression	1
Coal	increases abundance, decreases expression	1
Estradiol	decreases expression	1
Methotrexate	increases expression	1
Nickel	decreases expression	1
Ozone	increases abundance, affects expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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