ZNF14
gene geneOn this page
Also known as KOX6GIOT-4
Summary
ZNF14 (zinc finger protein 14, HGNC:12924) is a protein-coding gene on chromosome 19p13.11, encoding Zinc finger protein 14 (P17017). May be involved in transcriptional regulation.
The protein encoded by this gene contains a zinc finger and a Kruppel-associated box (KRAB) domain. KRAB domain is known to be involved in the transcriptional repression of a number of zinc finger proteins.
Source: NCBI Gene 7561 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 105 total
- MANE Select transcript:
NM_021030
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12924 |
| Approved symbol | ZNF14 |
| Name | zinc finger protein 14 |
| Location | 19p13.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KOX6, GIOT-4 |
| Ensembl gene | ENSG00000105708 |
| Ensembl biotype | protein_coding |
| OMIM | 194556 |
| Entrez | 7561 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000344099
RefSeq mRNA: 1 — MANE Select: NM_021030
NM_021030
CCDS: CCDS12409
Canonical transcript exons
ENST00000344099 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000691432 | 19714091 | 19714151 |
| ENSE00001407032 | 19710472 | 19713089 |
| ENSE00001428460 | 19732956 | 19733112 |
| ENSE00001593566 | 19714361 | 19714487 |
Expression profiles
Bgee: expression breadth ubiquitous, 267 present calls, max score 93.48.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.6888 / max 108.5483, expressed in 1455 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 180166 | 5.6888 | 1455 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 93.48 | gold quality |
| oocyte | CL:0000023 | 87.26 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.95 | gold quality |
| buccal mucosa cell | CL:0002336 | 84.59 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.38 | gold quality |
| endothelial cell | CL:0000115 | 80.62 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 79.95 | gold quality |
| cortical plate | UBERON:0005343 | 79.81 | gold quality |
| calcaneal tendon | UBERON:0003701 | 79.65 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 79.27 | gold quality |
| ganglionic eminence | UBERON:0004023 | 79.00 | gold quality |
| hair follicle | UBERON:0002073 | 78.65 | silver quality |
| ventricular zone | UBERON:0003053 | 78.08 | gold quality |
| parotid gland | UBERON:0001831 | 77.45 | gold quality |
| renal glomerulus | UBERON:0000074 | 77.37 | gold quality |
| nephron tubule | UBERON:0001231 | 76.51 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 76.49 | gold quality |
| caput epididymis | UBERON:0004358 | 75.75 | gold quality |
| corpus epididymis | UBERON:0004359 | 75.74 | gold quality |
| ovary | UBERON:0000992 | 75.67 | gold quality |
| kidney epithelium | UBERON:0004819 | 75.45 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 74.88 | gold quality |
| lymph node | UBERON:0000029 | 74.84 | gold quality |
| islet of Langerhans | UBERON:0000006 | 74.81 | gold quality |
| primary visual cortex | UBERON:0002436 | 74.81 | gold quality |
| cauda epididymis | UBERON:0004360 | 74.58 | gold quality |
| endometrium | UBERON:0001295 | 74.29 | gold quality |
| parietal pleura | UBERON:0002400 | 74.16 | gold quality |
| left ovary | UBERON:0002119 | 74.15 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 74.11 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| FSHB |
miRNA regulators (miRDB)
53 targeting ZNF14, 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-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-520G-5P | 99.99 | 66.76 | 658 |
| 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-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-4493 | 99.90 | 66.48 | 977 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-3156-3P | 99.76 | 66.72 | 939 |
| HSA-MIR-1976 | 99.74 | 65.48 | 1127 |
| HSA-MIR-5004-5P | 99.68 | 66.63 | 1294 |
| HSA-MIR-6126 | 99.62 | 68.09 | 996 |
| HSA-MIR-1260A | 99.61 | 66.67 | 1098 |
| HSA-MIR-1260B | 99.61 | 66.67 | 1098 |
| HSA-MIR-186-3P | 99.51 | 66.24 | 1685 |
| HSA-MIR-203A-3P | 99.49 | 70.56 | 2806 |
| HSA-MIR-892C-5P | 99.16 | 70.56 | 2116 |
Cross-species orthologs
0 orthologs
Paralogs (15): ZNF57 (ENSG00000171970), ZNF791 (ENSG00000173875), ZNF443 (ENSG00000180855), ZNF101 (ENSG00000181896), ZNF563 (ENSG00000188868), ZNF799 (ENSG00000196466), ZNF700 (ENSG00000196757), ZNF441 (ENSG00000197044), ZNF433 (ENSG00000197647), ZNF44 (ENSG00000197857), ZNF823 (ENSG00000197933), ZNF442 (ENSG00000198342), ZNF844 (ENSG00000223547), ZNF709 (ENSG00000242852), ZNF878 (ENSG00000257446)
Protein
Protein identifiers
Zinc finger protein 14 — P17017 (reviewed: P17017)
Alternative names: Gonadotropin-inducible ovary transcription repressor 4, Zinc finger protein KOX6
All UniProt accessions (1): P17017
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 (1): NP_066358* (*=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 |
| IPR050636 | C2H2-ZF_domain-containing | Family |
Pfam: PF00096, PF01352, PF13912
UniProt features (23 total): zinc finger region 19, sequence variant 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P17017-F1 | 78.62 | 0.26 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 95 (showing top):
PID_ERB_GENOMIC_PATHWAY, MODULE_205, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, CHEN_HOXA5_TARGETS_9HR_UP, chr19p13, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, LU_EZH2_TARGETS_DN, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_UP, MTOR_UP.N4.V1_DN, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, HES2_TARGET_GENES, GSE10240_CTRL_VS_IL22_STIM_PRIMARY_BRONCHIAL_EPITHELIAL_CELLS_DN, SNAI1_TARGET_GENES, ZNF711_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 (5): 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), metal ion binding (GO:0046872)
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 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
442 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF14 | C8orf48 | Q96LL4 | 446 |
| ZNF14 | BORCS8 | Q96FH0 | 391 |
| ZNF14 | YJEFN3 | A6XGL0 | 377 |
| ZNF14 | ATP13A1 | Q9HD20 | 365 |
| ZNF14 | GMIP | Q9P107 | 355 |
| ZNF14 | PRDM2 | Q13029 | 325 |
| ZNF14 | ENPP5 | Q9UJA9 | 324 |
| ZNF14 | JHY | Q6NUN7 | 323 |
| ZNF14 | ZNF474 | Q6S9Z5 | 322 |
| ZNF14 | TMEM121B | Q9BXQ6 | 322 |
| ZNF14 | NR2C2AP | Q86WQ0 | 317 |
| ZNF14 | SEC22C | Q9BRL7 | 316 |
| ZNF14 | NPAS1 | Q99742 | 310 |
| ZNF14 | MZT2A | Q6P582 | 305 |
| ZNF14 | USP49 | Q70CQ1 | 290 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRIM28 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM28 | ZNF320 | psi-mi:“MI:0914”(association) | 0.530 |
| FAM50A | SNRNP200 | psi-mi:“MI:0914”(association) | 0.350 |
| MARK3 | ZNF14 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (9): ZNF14 (Affinity Capture-RNA), ZNF14 (Affinity Capture-RNA), ZNF14 (Affinity Capture-MS), ZNF14 (Affinity Capture-MS), ZNF14 (Affinity Capture-MS), ZNF14 (Affinity Capture-MS), ZNF14 (Affinity Capture-MS), ZNF14 (Affinity Capture-RNA), ZNF14 (Affinity Capture-RNA)
ESM2 similar proteins: A2VDQ7, A6NNF4, A8MQ14, A8MTY0, E9QAG8, O75290, O75373, P08043, P0CJ79, P10751, P17017, P17027, P17039, P35789, P51522, P51523, Q08AN1, Q14585, Q14587, Q3SYV7, Q3ZCX4, Q4R4C7, Q52M93, Q5MCW4, Q5R5U3, Q5R8X1, Q5R9F0, Q5SXM1, Q6ECI4, Q6JLC9, Q6P3V2, Q6P5C7, Q6ZN57, Q86UE3, Q86XN6, Q86YE8, Q8C827, Q8IYB9, Q8N4W9, Q8N7M2
Diamond homologs: A0JPK3, A8MT65, C9JN71, E9QAG8, G3X9G7, O75820, P16373, P16374, P16415, P17017, P17024, P17025, P51815, P52737, Q08AG5, Q08ER8, Q0D2J5, Q15973, Q2M218, Q3KP31, Q3V080, Q494X3, Q4R4C7, Q5MYW4, Q5R9F0, Q5R9S5, Q5REI6, Q5REK1, Q68EA5, Q6P560, Q6P5C7, Q6ZQV5, Q7L945, Q86T29, Q8BGV5, Q8C6P8, Q8IYI8, Q8IZC7, Q8N7K0, Q8N972
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
105 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 93 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
784 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:19713085:GACAT:G | acceptor_gain | 1.0000 |
| 19:19713087:CAT:C | acceptor_gain | 1.0000 |
| 19:19713088:AT:A | acceptor_gain | 1.0000 |
| 19:19713089:TC:T | acceptor_loss | 1.0000 |
| 19:19713090:C:CC | acceptor_gain | 1.0000 |
| 19:19713090:CTGT:C | acceptor_loss | 1.0000 |
| 19:19713091:T:A | acceptor_loss | 1.0000 |
| 19:19714086:CTCA:C | donor_loss | 1.0000 |
| 19:19714087:TCA:T | donor_loss | 1.0000 |
| 19:19714088:CA:C | donor_loss | 1.0000 |
| 19:19714157:A:AC | acceptor_gain | 1.0000 |
| 19:19714166:C:T | acceptor_gain | 1.0000 |
| 19:19714358:TACCT:T | donor_loss | 1.0000 |
| 19:19714359:A:AG | donor_loss | 1.0000 |
| 19:19714485:GTCC:G | acceptor_loss | 1.0000 |
| 19:19714486:TC:T | acceptor_gain | 1.0000 |
| 19:19714487:CC:C | acceptor_gain | 1.0000 |
| 19:19714488:C:CC | acceptor_gain | 1.0000 |
| 19:19714488:CT:C | acceptor_loss | 1.0000 |
| 19:19732952:TCA:T | donor_loss | 1.0000 |
| 19:19732953:CA:C | donor_loss | 1.0000 |
| 19:19732954:A:AG | donor_loss | 1.0000 |
| 19:19713086:ACAT:A | acceptor_gain | 0.9900 |
| 19:19713087:CATC:C | acceptor_gain | 0.9900 |
| 19:19714090:CCTT:C | donor_gain | 0.9900 |
| 19:19714147:TTTTC:T | acceptor_gain | 0.9900 |
| 19:19714149:TTCC:T | acceptor_loss | 0.9900 |
| 19:19714150:TC:T | acceptor_gain | 0.9900 |
| 19:19714151:CC:C | acceptor_gain | 0.9900 |
| 19:19714151:CCT:C | acceptor_loss | 0.9900 |
AlphaMissense
4288 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:19712501:G:C | F260L | 0.987 |
| 19:19712501:G:T | F260L | 0.987 |
| 19:19712503:A:G | F260L | 0.987 |
| 19:19712417:G:C | F288L | 0.986 |
| 19:19712417:G:T | F288L | 0.986 |
| 19:19712419:A:G | F288L | 0.986 |
| 19:19711997:G:C | F428L | 0.984 |
| 19:19711997:G:T | F428L | 0.984 |
| 19:19711999:A:G | F428L | 0.984 |
| 19:19712081:G:C | F400L | 0.982 |
| 19:19712081:G:T | F400L | 0.982 |
| 19:19712083:A:G | F400L | 0.982 |
| 19:19711661:G:C | F540L | 0.980 |
| 19:19711661:G:T | F540L | 0.980 |
| 19:19711663:A:G | F540L | 0.980 |
| 19:19712165:G:C | F372L | 0.980 |
| 19:19712165:G:T | F372L | 0.980 |
| 19:19712167:A:G | F372L | 0.980 |
| 19:19712585:A:C | F232L | 0.978 |
| 19:19712585:A:T | F232L | 0.978 |
| 19:19712587:A:G | F232L | 0.978 |
| 19:19711409:G:C | F624L | 0.977 |
| 19:19711409:G:T | F624L | 0.977 |
| 19:19711411:A:G | F624L | 0.977 |
| 19:19712333:G:C | F316L | 0.976 |
| 19:19712333:G:T | F316L | 0.976 |
| 19:19712335:A:G | F316L | 0.976 |
| 19:19712249:G:C | F344L | 0.974 |
| 19:19712249:G:T | F344L | 0.974 |
| 19:19712251:A:G | F344L | 0.974 |
dbSNP variants (sampled 300 via entrez): RS1000068576 (19:19731982 T>C), RS1000145008 (19:19715917 G>A), RS1000194803 (19:19718329 G>A), RS1000227738 (19:19718024 AT>A), RS1000408433 (19:19728869 G>A), RS1000454342 (19:19715544 C>T), RS1000738715 (19:19729131 C>T), RS1000796363 (19:19729495 T>C), RS1000937505 (19:19720595 G>A), RS1000988119 (19:19720952 C>A,T), RS1001061391 (19:19714188 T>G), RS1001194813 (19:19732036 A>C), RS1001249875 (19:19729793 T>C), RS1001290661 (19:19730603 C>T), RS1001554854 (19:19714450 G>A,T)
Disease associations
OMIM: gene MIM:194556 | 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 |
|---|---|---|
| GCST002671_14 | Toenail selenium levels | 5.000000e-06 |
| GCST010002_52 | Refractive error | 4.000000e-29 |
| GCST012020_59 | Serum metabolite levels | 8.000000e-11 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| resorcinol | decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| chloropicrin | increases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Arsenicals | increases methylation | 1 |
| Formaldehyde | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| Aflatoxin M1 | decreases expression | 1 |
| Asbestos, Crocidolite | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | increases expression | 1 |
| Acrylamide | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.