ZNF174
geneOn this page
Also known as ZSCAN8
Summary
ZNF174 (zinc finger protein 174, HGNC:12963) is a protein-coding gene on chromosome 16p13.3, encoding Zinc finger protein 174 (Q15697). Transcriptional repressor.
This gene encodes a protein with three Cys2-His2-type zinc fingers in the carboxy-terminus, a putative nuclear localization signal, and an amino-terminus SCAN box which forms homodimers. This protein is believed to function as a transcriptional repressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms.
Source: NCBI Gene 7727 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 69 total
- MANE Select transcript:
NM_003450
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12963 |
| Approved symbol | ZNF174 |
| Name | zinc finger protein 174 |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZSCAN8 |
| Ensembl gene | ENSG00000103343 |
| Ensembl biotype | protein_coding |
| OMIM | 603900 |
| Entrez | 7727 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 6 protein_coding
ENST00000268655, ENST00000344823, ENST00000571936, ENST00000572544, ENST00000575752, ENST00000959344
RefSeq mRNA: 5 — MANE Select: NM_003450
NM_001032292, NM_001347868, NM_001347869, NM_001347870, NM_003450
CCDS: CCDS10504, CCDS32380, CCDS86501
Canonical transcript exons
ENST00000268655 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000666899 | 3408321 | 3409364 |
| ENSE00001838202 | 3401215 | 3402406 |
| ENSE00003488193 | 3404426 | 3404648 |
Expression profiles
Bgee: expression breadth ubiquitous, 206 present calls, max score 90.30.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.1362 / max 54.2742, expressed in 1756 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 152423 | 10.1362 | 1756 |
Top tissues by expression
271 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 90.30 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.85 | gold quality |
| apex of heart | UBERON:0002098 | 82.66 | gold quality |
| cortical plate | UBERON:0005343 | 80.78 | gold quality |
| gastrocnemius | UBERON:0001388 | 80.59 | gold quality |
| muscle of leg | UBERON:0001383 | 80.25 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 80.23 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 80.14 | gold quality |
| popliteal artery | UBERON:0002250 | 80.07 | gold quality |
| tibial artery | UBERON:0007610 | 80.05 | gold quality |
| right uterine tube | UBERON:0001302 | 79.98 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 79.91 | gold quality |
| lower esophagus | UBERON:0013473 | 79.89 | gold quality |
| right coronary artery | UBERON:0001625 | 79.68 | gold quality |
| heart left ventricle | UBERON:0002084 | 79.43 | gold quality |
| aorta | UBERON:0000947 | 79.31 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 79.21 | gold quality |
| granulocyte | CL:0000094 | 79.03 | gold quality |
| islet of Langerhans | UBERON:0000006 | 79.02 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 78.96 | gold quality |
| cardiac ventricle | UBERON:0002082 | 78.89 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 78.89 | gold quality |
| thoracic aorta | UBERON:0001515 | 78.84 | gold quality |
| body of uterus | UBERON:0009853 | 78.78 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 78.74 | silver quality |
| ascending aorta | UBERON:0001496 | 78.72 | gold quality |
| left coronary artery | UBERON:0001626 | 78.65 | gold quality |
| right atrium auricular region | UBERON:0006631 | 78.60 | gold quality |
| ventricular zone | UBERON:0003053 | 78.45 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 78.40 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.10 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| PDGFB | |
| TGFB1 | Repression |
miRNA regulators (miRDB)
28 targeting ZNF174, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-10394-5P | 99.65 | 66.83 | 1852 |
| HSA-MIR-1205 | 99.65 | 66.76 | 1826 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-3120-3P | 99.54 | 70.28 | 2669 |
| HSA-MIR-377-3P | 99.37 | 70.18 | 1905 |
| HSA-MIR-3160-5P | 99.28 | 69.07 | 1938 |
| HSA-MIR-8070 | 99.07 | 69.30 | 1303 |
| HSA-MIR-922 | 99.02 | 67.23 | 1838 |
| HSA-MIR-4744 | 99.01 | 69.91 | 1581 |
| HSA-MIR-3124-3P | 98.87 | 68.95 | 2123 |
| HSA-MIR-502-5P | 98.77 | 66.51 | 906 |
| HSA-MIR-188-5P | 97.89 | 67.01 | 756 |
| HSA-MIR-3620-3P | 97.78 | 64.88 | 772 |
| HSA-MIR-6866-3P | 97.38 | 66.94 | 748 |
| HSA-MIR-4288 | 97.11 | 67.23 | 1636 |
| HSA-MIR-339-5P | 96.73 | 66.01 | 820 |
| HSA-MIR-6847-3P | 96.50 | 67.30 | 582 |
| HSA-MIR-4774-5P | 95.92 | 68.27 | 827 |
| HSA-MIR-1231 | 95.10 | 65.63 | 663 |
| HSA-MIR-877-5P | 94.62 | 66.30 | 710 |
Literature-anchored findings (GeneRIF, showing 1)
- Both size exclusion chromatography and equilibrium sedimentation analysis demonstrate that the ZNF174 SCAN domain forms a homodimer (PMID:11741982)
Cross-species orthologs
11 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | plagx | ENSDARG00000036855 |
| danio_rerio | ovol1a | ENSDARG00000076472 |
| danio_rerio | plagl2 | ENSDARG00000076657 |
| danio_rerio | ovol1b | ENSDARG00000078256 |
| mus_musculus | Zfp174 | ENSMUSG00000054939 |
| rattus_norvegicus | Zfp174 | ENSRNOG00000007655 |
| drosophila_melanogaster | hb | FBGN0001180 |
| drosophila_melanogaster | CG12391 | FBGN0033581 |
| caenorhabditis_elegans | WBGENE00001824 | |
| caenorhabditis_elegans | WBGENE00003033 | |
| caenorhabditis_elegans | WBGENE00012385 |
Paralogs (29): ZNF446 (ENSG00000083838), REST (ENSG00000084093), OVOL3 (ENSG00000105261), PLAGL1 (ENSG00000118495), ZSCAN18 (ENSG00000121413), ZNF576 (ENSG00000124444), OVOL2 (ENSG00000125850), PLAGL2 (ENSG00000126003), ZSCAN5A (ENSG00000131848), ZSCAN29 (ENSG00000140265), ZSCAN32 (ENSG00000140987), ZSCAN1 (ENSG00000152467), ZNF18 (ENSG00000154957), ZKSCAN2 (ENSG00000155592), ZNF496 (ENSG00000162714), ZNF202 (ENSG00000166261), ZNF641 (ENSG00000167528), ZNF444 (ENSG00000167685), SCAND1 (ENSG00000171222), ZNF274 (ENSG00000171606), ZNF131 (ENSG00000172262), OVOL1 (ENSG00000172818), ZNF518A (ENSG00000177853), ZNF518B (ENSG00000178163), PLAG1 (ENSG00000181690), ZSCAN5B (ENSG00000197213), ZNF770 (ENSG00000198146), PEG3 (ENSG00000198300), ZSCAN5C (ENSG00000204532)
Protein
Protein identifiers
Zinc finger protein 174 — Q15697 (reviewed: Q15697)
Alternative names: AW-1, Zinc finger and SCAN domain-containing protein 8
All UniProt accessions (2): Q15697, I3L2H2
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional repressor.
Subunit / interactions. Homodimer.
Subcellular location. Nucleus.
Tissue specificity. Expressed in a variety of organs, but most strongly in adult testis and ovary followed by small intestine, colon, prostate, thymus, spleen, pancreas, skeletal muscle, heart, brain and kidney. Also expressed in umbilical vein endothelial cells, foreskin fibroblast and Hep-G2 cells.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q15697-1 | 1 | yes |
| Q15697-2 | 2 |
RefSeq proteins (5): NP_001027463, NP_001334797, NP_001334798, NP_001334799, NP_003441* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003309 | SCAN_dom | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR038269 | SCAN_sf | Homologous_superfamily |
| IPR050916 | SCAN-C2H2_zinc_finger | Family |
Pfam: PF00096, PF02023
UniProt features (20 total): helix 5, cross-link 4, zinc finger region 3, splice variant 2, region of interest 2, chain 1, domain 1, strand 1, compositionally biased region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1Y7Q | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q15697-F1 | 60.62 | 0.01 |
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 (4): 230, 271, 26, 204
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 62 (showing top):
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, CCCNNNNNNAAGWT_UNKNOWN, AACTTT_UNKNOWN, DANG_BOUND_BY_MYC, GOCC_NUCLEAR_BODY, GOCC_NUCLEOLUS, BENPORATH_MYC_MAX_TARGETS, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, GOMF_PROTEIN_DIMERIZATION_ACTIVITY, GOMF_PROTEIN_HOMODIMERIZATION_ACTIVITY, LIU_NASOPHARYNGEAL_CARCINOMA, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_TURQUOISE_DN, FIGUEROA_AML_METHYLATION_CLUSTER_6_UP, FIGUEROA_AML_METHYLATION_CLUSTER_7_UP
GO Biological Process (3): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (11): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), protein homodimerization activity (GO:0042803), sequence-specific DNA binding (GO:0043565), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): chromatin (GO:0000785), fibrillar center (GO:0001650), nucleus (GO:0005634), nuclear body (GO:0016604)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 3 |
| regulation of transcription by RNA polymerase II | 2 |
| transcription by RNA polymerase II | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| cellular anatomical structure | 2 |
| negative regulation of DNA-templated transcription | 1 |
| DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| transcription regulatory region nucleic acid binding | 1 |
| sequence-specific double-stranded DNA binding | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| transition metal ion binding | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| DNA binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| chromosome | 1 |
| nucleolus | 1 |
| intracellular membrane-bounded organelle | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
670 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF174 | GPKOW | Q92917 | 727 |
| ZNF174 | MZF1 | P28698 | 463 |
| ZNF174 | ZSCAN1 | Q8NBB4 | 463 |
| ZNF174 | ZNF202 | O95125 | 440 |
| ZNF174 | MEFV | O15553 | 425 |
| ZNF174 | ZSCAN2 | Q7Z7L9 | 423 |
| ZNF174 | CSF1 | P09603 | 390 |
| ZNF174 | PDGFB | P01127 | 387 |
| ZNF174 | D6RC18 | D6RC18 | 355 |
| ZNF174 | ANGEL2 | Q5VTE6 | 327 |
| ZNF174 | ISY1 | Q9ULR0 | 322 |
| ZNF174 | IGF2 | P01344 | 321 |
| ZNF174 | K7ESF6 | K7ESF6 | 309 |
| ZNF174 | NBPF3 | Q9H094 | 305 |
| ZNF174 | ZNF205 | O95201 | 300 |
IntAct
28 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZNF397 | ZNF213 | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF174 | ZSCAN32 | psi-mi:“MI:0915”(physical association) | 0.550 |
| ZSCAN32 | ZNF197 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF483 | ZNF197 | psi-mi:“MI:0914”(association) | 0.530 |
| PGBD1 | ZNF213 | psi-mi:“MI:0914”(association) | 0.530 |
| ZKSCAN4 | ZNF213 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF18 | ZMYM6 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF396 | ZNF24 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF213 | ZNF24 | psi-mi:“MI:0914”(association) | 0.530 |
| TPD52 | TPD52L2 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF174 | CDK6 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| ZNF174 | ZNF174 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF174 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF232 | ZNF197 | psi-mi:“MI:0914”(association) | 0.350 |
| ZSCAN1 | ZNF213 | psi-mi:“MI:0914”(association) | 0.350 |
| ZSCAN23 | ZNF263 | psi-mi:“MI:0914”(association) | 0.350 |
| ZSCAN21 | IPO8 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF174 | EIF3J | psi-mi:“MI:0914”(association) | 0.350 |
| TGIF2 | ZNF213 | psi-mi:“MI:0914”(association) | 0.350 |
| H2BC10 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| CDC14B | PES1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| ZMYM2 | ZBTB5 | psi-mi:“MI:2364”(proximity) | 0.270 |
| ZMYM2 | TRIM24 | psi-mi:“MI:2364”(proximity) | 0.270 |
| ZMYM3 | TAF4 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SUMO1 | CHD2 | psi-mi:“MI:0914”(association) | 0.000 |
BioGRID (97): ZNF174 (Affinity Capture-RNA), ZNF174 (Affinity Capture-MS), ZNF174 (Affinity Capture-MS), ZNF174 (Affinity Capture-MS), ZNF174 (Affinity Capture-MS), ZNF174 (Affinity Capture-MS), ZNF174 (Affinity Capture-MS), ZNF174 (Proximity Label-MS), ZNF174 (Affinity Capture-MS), ZNF174 (Two-hybrid), ZNF174 (Proximity Label-MS), ZNF174 (Affinity Capture-MS), ZNF174 (Affinity Capture-MS), ZNF174 (Affinity Capture-MS), ZNF174 (Affinity Capture-MS)
ESM2 similar proteins: A0A087WVF3, A0A087WXS9, A0A087X179, A0A087X1G2, A6NDS4, A6NER0, A6QPT6, B9A6J9, M3WHG5, O14771, O15482, O15553, O19110, O76081, P0C7X1, P0C7X3, P0C7X4, P35125, P48778, P48967, P79209, Q13670, Q15697, Q2TBC4, Q3T191, Q3UZD7, Q4R2Z8, Q5DRQ5, Q5SSQ6, Q5XFX8, Q69ZB3, Q6DHY5, Q6IPX1, Q6ZMN8, Q8BLR5, Q8BWA8, Q8IYF1, Q8IZP1, Q8JZW5, Q8N7G0
Diamond homologs: A1YEP8, A1YEQ3, A1YEV9, A1YFW2, A1YFW6, A1YG26, A1YG48, A1YG60, A1YGJ4, A1YGK6, A2T6E3, A2T6V8, A2T6W2, A2T712, A2T736, A2T7D2, A2T7D7, A2T7F2, A2T7F4, A2T7L7, A2T812, A6QNZ0, A6QPT6, B2KFW1, O14709, O14771, O14978, O15535, O43309, O60304, O95125, P10073, P17022, P17028, P17029, P17040, P28698, P49910, P51815, P59923
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
69 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 61 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
384 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:3402403:GTGG:G | donor_gain | 1.0000 |
| 16:3402400:GCA:G | donor_gain | 0.9900 |
| 16:3402402:AGTGG:A | donor_loss | 0.9900 |
| 16:3402405:GGGT:G | donor_loss | 0.9900 |
| 16:3402406:GGTAA:G | donor_loss | 0.9900 |
| 16:3402407:G:GG | donor_gain | 0.9900 |
| 16:3402408:T:A | donor_loss | 0.9900 |
| 16:3404970:GC:G | donor_gain | 0.9900 |
| 16:3404971:C:G | donor_gain | 0.9900 |
| 16:3402404:TGG:T | donor_gain | 0.9800 |
| 16:3402405:GG:G | donor_gain | 0.9800 |
| 16:3402405:GGG:G | donor_gain | 0.9800 |
| 16:3402406:GG:G | donor_gain | 0.9800 |
| 16:3404965:C:G | donor_gain | 0.9800 |
| 16:3402412:G:GT | donor_gain | 0.9700 |
| 16:3402413:A:T | donor_gain | 0.9700 |
| 16:3408320:GA:G | acceptor_gain | 0.9600 |
| 16:3408319:A:AG | acceptor_gain | 0.9500 |
| 16:3408320:G:GG | acceptor_gain | 0.9500 |
| 16:3404423:TAG:T | acceptor_loss | 0.9400 |
| 16:3404424:A:C | acceptor_loss | 0.9400 |
| 16:3404425:G:GT | acceptor_loss | 0.9400 |
| 16:3402402:A:AG | donor_gain | 0.9200 |
| 16:3402409:AAG:A | donor_loss | 0.9100 |
| 16:3402368:G:GT | donor_gain | 0.9000 |
| 16:3402403:GTGGG:G | donor_gain | 0.8900 |
| 16:3402404:TGGGT:T | donor_gain | 0.8900 |
| 16:3402406:G:A | donor_gain | 0.8900 |
| 16:3404644:GACAG:G | donor_loss | 0.8900 |
| 16:3404645:ACAG:A | donor_loss | 0.8900 |
AlphaMissense
2673 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:3408698:T:C | F335L | 1.000 |
| 16:3408700:C:A | F335L | 1.000 |
| 16:3408700:C:G | F335L | 1.000 |
| 16:3408782:T:C | F363L | 0.999 |
| 16:3408784:T:A | F363L | 0.999 |
| 16:3408784:T:G | F363L | 0.999 |
| 16:3408866:T:C | F391L | 0.999 |
| 16:3408868:T:A | F391L | 0.999 |
| 16:3408868:T:G | F391L | 0.999 |
| 16:3408699:T:C | F335S | 0.998 |
| 16:3408725:C:G | H344D | 0.998 |
| 16:3408809:C:G | H372D | 0.997 |
| 16:3408823:C:A | H376Q | 0.997 |
| 16:3408823:C:G | H376Q | 0.997 |
| 16:3408867:T:C | F391S | 0.997 |
| 16:3408677:T:C | C328R | 0.996 |
| 16:3408717:T:C | L341P | 0.996 |
| 16:3408727:C:A | H344Q | 0.996 |
| 16:3408727:C:G | H344Q | 0.996 |
| 16:3408739:C:A | H348Q | 0.996 |
| 16:3408739:C:G | H348Q | 0.996 |
| 16:3408783:T:C | F363S | 0.996 |
| 16:3408801:T:C | L369P | 0.996 |
| 16:3408811:C:A | H372Q | 0.996 |
| 16:3408811:C:G | H372Q | 0.996 |
| 16:3408821:C:G | H376D | 0.996 |
| 16:3408686:T:A | C331S | 0.995 |
| 16:3408686:T:C | C331R | 0.995 |
| 16:3408687:G:C | C331S | 0.995 |
| 16:3408688:T:G | C331W | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000169149 (16:3404517 C>T), RS1000540005 (16:3407024 C>A,T), RS1000541786 (16:3405548 A>G), RS1000553807 (16:3400130 A>G,T), RS1000688036 (16:3400359 C>A), RS1001494711 (16:3399634 T>C), RS1001775615 (16:3404621 G>A,C), RS1001848094 (16:3400903 C>T), RS1001988921 (16:3406199 G>C), RS1002121467 (16:3400981 G>A,C), RS1002508974 (16:3403712 C>T), RS1003424276 (16:3406193 T>C), RS1003492380 (16:3407309 T>G), RS1003522570 (16:3401581 C>T), RS1003974617 (16:3403220 A>AGTG)
Disease associations
OMIM: gene MIM:603900 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): long QT syndrome (MONDO:0002442)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008133 | Long QT Syndrome | C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases methylation, increases expression | 3 |
| sodium arsenite | decreases expression, increases abundance | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| beta-lapachone | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Arsenic | increases abundance, decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Hydrogen Peroxide | increases expression | 1 |
| Manganese | decreases expression, increases abundance | 1 |
| Mercury | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Zinc | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 2 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TZ35 | HAP1 ZNF174 (-) 1 | Cancer cell line | Male |
| CVCL_TZ36 | HAP1 ZNF174 (-) 2 | Cancer cell line | Male |
| CVCL_XW12 | HEK293 eGFP-ZNF174 | Transformed cell line | Female |
Clinical trials (associated diseases)
66 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02513940 | PHASE4 | COMPLETED | Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes |
| NCT03834883 | PHASE4 | COMPLETED | Reducing the Risk of Drug-Induced QT Interval Lengthening in Women |
| NCT04169100 | PHASE4 | UNKNOWN | Novel Form of Acquired Long QT Syndrome |
| NCT04675788 | PHASE4 | COMPLETED | Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening |
| NCT01648205 | PHASE2 | COMPLETED | Long-term Efficacy Study of Sodium Channel Blocker in LQT3 Patients |
| NCT02412709 | PHASE2 | UNKNOWN | Long QT Syndrome Screening in Newborns |
| NCT04581408 | PHASE2 | COMPLETED | Mutation-specific Therapy for the Long QT Syndrome |
| NCT00316459 | PHASE1 | COMPLETED | Study Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects |
| NCT01849003 | PHASE1 | COMPLETED | Study of the Effect of GS-6615 in Subjects With LQT-3 |
| NCT02365532 | PHASE1 | COMPLETED | Effect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Adults |
| NCT02412098 | PHASE1 | COMPLETED | Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function |
| NCT02441829 | PHASE1 | COMPLETED | Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function |
| NCT05759962 | PHASE1 | COMPLETED | Phase 1 Study of LQT-1213 in Healthy Adults |
| NCT05906732 | PHASE1/PHASE2 | TERMINATED | Study of LQT-1213 on QTc-induced Prolongation in Healthy Adult Subjects (Part1) and on Congenital Long QT in Patients Diagnosed With Type 2 or 3 Long QT Syndrome (Part 2). |
| NCT00005176 | Not specified | COMPLETED | Long QT Syndrome-Population Genetics and Cardiac Studies |
| NCT00005250 | Not specified | COMPLETED | Linkage Study of Long QT Syndrome In An Amish Kindred |
| NCT00005367 | Not specified | COMPLETED | Epidemiology of Long QTand Asian Sudden Death in Sleep |
| NCT00221832 | Not specified | UNKNOWN | Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases |
| NCT00292032 | Not specified | COMPLETED | Registry of Unexplained Cardiac Arrest |
| NCT00335036 | Not specified | TERMINATED | Pediatric Lead Extractability and Survival Evaluation (PLEASE) |
| NCT00399412 | Not specified | COMPLETED | ECG Signal Collection From Long QT Syndrome, Wide QRS Complexes, Heart Failure, and Cardiac Resynchronization Patients |
| NCT00488254 | Not specified | COMPLETED | The Long QT Syndrome in Pregnancy |
| NCT00588965 | Not specified | COMPLETED | Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects |
| NCT01705925 | Not specified | COMPLETED | Multicenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome |
| NCT01903564 | Not specified | COMPLETED | Fetal and Neonatal Magnetophysiology |
| NCT02082431 | Not specified | COMPLETED | Determine the Incidence of Long QT Amongst a Large Cohort of Subjects Diagnosed With Unilateral or Bilateral Sensorineural Hearing Loss. |
| NCT02413450 | Not specified | ENROLLING_BY_INVITATION | Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias |
| NCT02425189 | Not specified | COMPLETED | The Canadian National Long QT Syndrome Registry |
| NCT02439645 | Not specified | TERMINATED | A Registry to Determine the Clinical and Genetic Risk Factors for Torsade De Pointes |
| NCT02439658 | Not specified | UNKNOWN | Genetics of QT Prolongation With Antiarrhythmics |
| NCT02549664 | Not specified | COMPLETED | Exercise in Genetic Cardiovascular Conditions |
| NCT02581241 | Not specified | COMPLETED | Abnormal QT-Response to the Sudden Tachycardia Provoked by Standing in Individuals With Drug-induced Long QT Syndrome |
| NCT02680080 | Not specified | COMPLETED | Effect of Grapefruit on QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome |
| NCT02775513 | Not specified | UNKNOWN | Metabolism of Patients With Genetically Caused Cardiac Arrhythmia |
| NCT02814981 | Not specified | UNKNOWN | Hydroxyzine and Risk of Prolongation of QT Interval |
| NCT02876380 | Not specified | COMPLETED | Prospective Identification of Long QT Syndrome in Fetal Life |
| NCT03182777 | Not specified | COMPLETED | Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies |
| NCT03544918 | Not specified | COMPLETED | Prevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort |
| NCT03642405 | Not specified | UNKNOWN | Drug-induced Repolarization ECG Changes |
| NCT03678311 | Not specified | COMPLETED | Long QT Syndrome and Sleep Apnea |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): long QT syndrome