ZNF274
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Also known as ZKSCAN19ZSCAN51
Summary
ZNF274 (zinc finger protein 274, HGNC:13068) is a protein-coding gene on chromosome 19q13.43, encoding Neurotrophin receptor-interacting factor homolog (Q96GC6). Probable transcription repressor.
This gene encodes a zinc finger protein containing five C2H2-type zinc finger domains, one or two Kruppel-associated box A (KRAB A) domains, and a leucine-rich domain. The encoded protein has been suggested to be a transcriptional repressor. It localizes predominantly to the nucleolus. Alternatively spliced transcript variants encoding different isoforms exist. These variants utilize alternative polyadenylation signals.
Source: NCBI Gene 10782 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 38 total
- Cancer driver (intOGen): activating (oncogene-like) across 1 cancer types
- MANE Select transcript:
NM_133502
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13068 |
| Approved symbol | ZNF274 |
| Name | zinc finger protein 274 |
| Location | 19q13.43 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZKSCAN19, ZSCAN51 |
| Ensembl gene | ENSG00000171606 |
| Ensembl biotype | protein_coding |
| OMIM | 605467 |
| Entrez | 10782 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 18 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000326804, ENST00000345813, ENST00000424679, ENST00000594248, ENST00000594839, ENST00000595146, ENST00000597528, ENST00000600704, ENST00000601995, ENST00000610905, ENST00000615675, ENST00000617501, ENST00000619307, ENST00000621145, ENST00000863438, ENST00000930795, ENST00000930796, ENST00000930797, ENST00000930798, ENST00000930799, ENST00000930800, ENST00000930801, ENST00000952034, ENST00000952035, ENST00000952036
RefSeq mRNA: 4 — MANE Select: NM_133502
NM_001278734, NM_016324, NM_016325, NM_133502
CCDS: CCDS74473, CCDS74474, CCDS74475, CCDS74476
Canonical transcript exons
ENST00000617501 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003584696 | 58206720 | 58207202 |
| ENSE00003593102 | 58186947 | 58187042 |
| ENSE00003610358 | 58209961 | 58210073 |
| ENSE00003623762 | 58185712 | 58185838 |
| ENSE00003632047 | 58211560 | 58211686 |
| ENSE00003712961 | 58212161 | 58213562 |
| ENSE00003739436 | 58183061 | 58183442 |
| ENSE00003744661 | 58183921 | 58183998 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 90.28.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.5227 / max 117.0845, expressed in 1793 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 177818 | 7.2270 | 1715 |
| 177819 | 4.2957 | 1594 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left ovary | UBERON:0002119 | 90.28 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 90.19 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 89.94 | silver quality |
| colonic epithelium | UBERON:0000397 | 89.82 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 89.58 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 89.49 | gold quality |
| thyroid gland | UBERON:0002046 | 89.43 | gold quality |
| right ovary | UBERON:0002118 | 89.33 | gold quality |
| sural nerve | UBERON:0015488 | 89.21 | gold quality |
| heart right ventricle | UBERON:0002080 | 89.15 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 88.74 | gold quality |
| ovary | UBERON:0000992 | 87.81 | gold quality |
| cardiac ventricle | UBERON:0002082 | 87.81 | gold quality |
| heart left ventricle | UBERON:0002084 | 87.80 | gold quality |
| right uterine tube | UBERON:0001302 | 87.53 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.44 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 87.37 | gold quality |
| cerebellar cortex | UBERON:0002129 | 87.27 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 87.23 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 87.19 | gold quality |
| mammary duct | UBERON:0001765 | 87.18 | gold quality |
| calcaneal tendon | UBERON:0003701 | 87.15 | gold quality |
| spleen | UBERON:0002106 | 87.10 | gold quality |
| right lobe of liver | UBERON:0001114 | 87.09 | gold quality |
| granulocyte | CL:0000094 | 87.03 | gold quality |
| nipple | UBERON:0002030 | 87.00 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 86.98 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 86.97 | gold quality |
| blood | UBERON:0000178 | 86.94 | gold quality |
| cerebellum | UBERON:0002037 | 86.94 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.69 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
4 targets.
| Target | Regulation |
|---|---|
| CDKN2A | |
| DHCR7 | Activation |
| HBZ | |
| HMGCR | Activation |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1592.1 | ZNF274 | More than 3 adjacent zinc fingers |
| MA1592.2 | ZNF274 | More than 3 adjacent zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:21170338
Upstream regulators (CollecTRI, top): TRIM28
miRNA regulators (miRDB)
31 targeting ZNF274, 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-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-148A-3P | 99.74 | 73.77 | 1700 |
| HSA-MIR-148B-3P | 99.74 | 73.75 | 1700 |
| HSA-MIR-152-3P | 99.74 | 73.75 | 1703 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-1252-3P | 99.55 | 67.71 | 2862 |
| HSA-MIR-892A | 99.54 | 68.16 | 1141 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-216A-5P | 99.50 | 68.02 | 1288 |
| HSA-MIR-4318 | 99.38 | 66.94 | 1505 |
| HSA-MIR-410-3P | 99.27 | 69.98 | 2457 |
| HSA-MIR-664A-3P | 99.22 | 71.08 | 2696 |
| HSA-MIR-4279 | 99.19 | 66.70 | 2437 |
| HSA-MIR-500A-5P | 98.76 | 69.13 | 1241 |
| HSA-MIR-5094 | 98.63 | 67.11 | 1062 |
| HSA-MIR-3691-5P | 98.62 | 65.88 | 552 |
| HSA-MIR-7114-5P | 98.51 | 67.87 | 1349 |
| HSA-MIR-676-5P | 98.49 | 68.87 | 1492 |
| HSA-MIR-1914-5P | 97.83 | 66.21 | 807 |
| HSA-MIR-4693-5P | 97.35 | 67.02 | 1234 |
| HSA-MIR-5694 | 97.06 | 67.70 | 682 |
Literature-anchored findings (GeneRIF, showing 4)
- KAP1 functions to coordinate activities that dynamically regulate changes in histone modifications and deposition of HP1 to establish a de novo microenvironment of heterochromatin, which is required for repression of gene transcription by KRAB-zfps. (PMID:16954381)
- analysis of a KRAB domain-containing ZNF (ZNF274) that is involved in recruitment of the KAP1 and SETDB1 to specific regions of the human genome (PMID:21170338)
- A proximal promoter construct for the MAS gene was repressed by the SOX [SRY (sex-determining region on the Y chromosome) box] proteins SRY, SOX2, SOX3 and SOX14, of which SRY is known to interact with the KRAB domain. (PMID:24128372)
- Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons. (PMID:32977341)
Cross-species orthologs
12 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | plagx | ENSDARG00000036855 |
| danio_rerio | ovol1a | ENSDARG00000076472 |
| danio_rerio | plagl2 | ENSDARG00000076657 |
| danio_rerio | ovol1b | ENSDARG00000078256 |
| mus_musculus | Zfp369 | ENSMUSG00000021514 |
| mus_musculus | Zfp110 | ENSMUSG00000058638 |
| rattus_norvegicus | Zfp110 | ENSRNOG00000031328 |
| drosophila_melanogaster | hb | FBGN0001180 |
| drosophila_melanogaster | CG12391 | FBGN0033581 |
| caenorhabditis_elegans | WBGENE00001824 | |
| caenorhabditis_elegans | WBGENE00003033 | |
| caenorhabditis_elegans | WBGENE00012385 |
Paralogs (29): ZNF446 (ENSG00000083838), REST (ENSG00000084093), ZNF174 (ENSG00000103343), 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), ZNF131 (ENSG00000172262), OVOL1 (ENSG00000172818), ZNF518A (ENSG00000177853), ZNF518B (ENSG00000178163), PLAG1 (ENSG00000181690), ZSCAN5B (ENSG00000197213), ZNF770 (ENSG00000198146), PEG3 (ENSG00000198300), ZSCAN5C (ENSG00000204532)
Protein
Protein identifiers
Neurotrophin receptor-interacting factor homolog — Q96GC6 (reviewed: Q96GC6)
Alternative names: Zinc finger protein 274, Zinc finger protein HFB101, Zinc finger protein with KRAB and SCAN domains 19, Zinc finger protein zfp2
All UniProt accessions (4): A0A0A0MR47, Q96GC6, M0QXW4, M0QY30
UniProt curated annotations — full annotation on UniProt →
Function. Probable transcription repressor. Specifically binds to the 3’-end of zinc-finger coding genes and recruiting chromatin-modifying proteins such as SETDB1 and TRIM28/KAP1, leading to transcription repression. The SETDB1-TRIM28-ZNF274 complex may play a role in recruiting ATRX to the 3’-exons of zinc-finger coding genes with atypical chromatin signatures to establish or maintain/protect H3K9me3 at these transcriptionally active regions.
Subunit / interactions. Interacts with SETDB1 and TRIM28/KAP1. Interacts with ATRX. Forms a complex with ATRX, SETDB1 and TRIM28.
Subcellular location. Cytoplasm. Nucleus. Nucleolus.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96GC6-1 | 1, SP2114a | yes |
| Q96GC6-2 | 2, ZNF274a | |
| Q96GC6-3 | 3, ZNF274b | |
| Q96GC6-4 | 4, SP2114b |
RefSeq proteins (4): NP_001265663, NP_057408, NP_057409, NP_598009* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001909 | KRAB | Domain |
| IPR003309 | SCAN_dom | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036051 | KRAB_dom_sf | Homologous_superfamily |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR038269 | SCAN_sf | Homologous_superfamily |
Pfam: PF00096, PF01352, PF02023
UniProt features (28 total): region of interest 5, compositionally biased region 5, zinc finger region 5, splice variant 4, sequence conflict 4, domain 3, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96GC6-F1 | 59.79 | 0.08 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 150 (showing top):
RRAGTTGT_UNKNOWN, SHIPP_DLBCL_CURED_VS_FATAL_DN, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, ROSS_LEUKEMIA_WITH_MLL_FUSIONS, BLALOCK_ALZHEIMERS_DISEASE_UP, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, HE_PTEN_TARGETS_UP, PID_P75_NTR_PATHWAY, GOBP_CHROMATIN_REMODELING, DANG_BOUND_BY_MYC, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_DN, KEGG_NEUROTROPHIN_SIGNALING_PATHWAY, OSMAN_BLADDER_CANCER_DN, ACTWSNACTNY_UNKNOWN
GO Biological Process (4): negative regulation of transcription by RNA polymerase II (GO:0000122), chromatin remodeling (GO:0006338), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357)
GO Molecular Function (9): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), chromatin binding (GO:0003682), zinc ion binding (GO:0008270), 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 (3): nucleolus (GO:0005730), cytoplasm (GO:0005737), 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 transcription by RNA polymerase II | 2 |
| transcription by RNA polymerase II | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| binding | 2 |
| negative regulation of DNA-templated transcription | 1 |
| chromatin organization | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| regulation of DNA-templated transcription | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| transition metal ion binding | 1 |
| DNA binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
970 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF274 | SETDB1 | Q15047 | 970 |
| ZNF274 | TRIM28 | Q13263 | 846 |
| ZNF274 | GATA2 | P23769 | 675 |
| ZNF274 | SPI1 | P17947 | 630 |
| ZNF274 | YIPF2 | Q9BWQ6 | 593 |
| ZNF274 | ZNF75D | P51815 | 585 |
| ZNF274 | WDR33 | Q9C0J8 | 583 |
| ZNF274 | CRBN | Q96SW2 | 557 |
| ZNF274 | ABL1 | P00519 | 498 |
| ZNF274 | DDB1 | Q16531 | 496 |
| ZNF274 | ETV6 | P41212 | 488 |
| ZNF274 | CTBP1 | Q13363 | 480 |
| ZNF274 | CTCF | P49711 | 473 |
| ZNF274 | ZZZ3 | Q8IYH5 | 451 |
| ZNF274 | YIPF1 | Q9Y548 | 447 |
| ZNF274 | CPSF4 | O95639 | 447 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRIM28 | ZNF320 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF274 | SCAND1 | psi-mi:“MI:0914”(association) | 0.530 |
| GRB2 | ZNF274 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZNF274 | DIRAS1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZNF274 | S | psi-mi:“MI:0915”(physical association) | 0.370 |
| CBX5 | ZNF568 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF274 | ZNF24 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF274 | RPS27A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (37): ZNF274 (Affinity Capture-Western), ZNF274 (Affinity Capture-Western), TRIM28 (Affinity Capture-MS), RPS27A (Affinity Capture-MS), HIST1H1A (Affinity Capture-MS), RPL26L1 (Affinity Capture-MS), MRPL27 (Affinity Capture-MS), MRPS14 (Affinity Capture-MS), MDM2 (Affinity Capture-MS), MALSU1 (Affinity Capture-MS), MRPL27 (Affinity Capture-MS), MRPL30 (Affinity Capture-MS), RPS27A (Affinity Capture-MS), HIST1H1A (Affinity Capture-MS), RPL26L1 (Affinity Capture-MS)
ESM2 similar proteins: A1A5P9, A2AVR2, A6QPT6, B2KFW1, O14978, P17029, P17040, P17098, P25233, P70503, Q13342, Q14D33, Q3SYK4, Q3V3Q4, Q4KLI1, Q4R8H9, Q4V8E9, Q5PPP4, Q5R670, Q5R7U0, Q5VWK0, Q61066, Q63HK3, Q68CQ1, Q6PCZ4, Q7TS72, Q80ZG2, Q8BGS3, Q8CF60, Q8IWY8, Q8N660, Q8NDZ0, Q8TD17, Q921B4, Q923B3, Q96D09, Q96GC6, Q96JL9, Q96M43, Q99608
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
Cancer significance
From intOGen — cancer-driver classification: activating (oncogene-like) across 1 cancer types — MBL.
Clinical variants and AI predictions
ClinVar
38 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 30 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1429 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:58183440:CGGGT:C | donor_loss | 1.0000 |
| 19:58183441:GG:G | donor_gain | 1.0000 |
| 19:58183441:GGGTG:G | donor_loss | 1.0000 |
| 19:58183442:GG:G | donor_gain | 1.0000 |
| 19:58183442:GGTG:G | donor_loss | 1.0000 |
| 19:58183443:GTG:G | donor_loss | 1.0000 |
| 19:58183444:T:A | donor_loss | 1.0000 |
| 19:58185668:T:TA | acceptor_gain | 1.0000 |
| 19:58185669:G:A | acceptor_gain | 1.0000 |
| 19:58185799:G:GT | donor_gain | 1.0000 |
| 19:58185799:G:T | donor_gain | 1.0000 |
| 19:58185835:G:GG | donor_gain | 1.0000 |
| 19:58185837:GG:G | donor_gain | 1.0000 |
| 19:58185838:GG:G | donor_gain | 1.0000 |
| 19:58186945:A:AG | acceptor_gain | 1.0000 |
| 19:58186946:G:GG | acceptor_gain | 1.0000 |
| 19:58206710:T:TA | acceptor_gain | 1.0000 |
| 19:58206717:CAG:C | acceptor_gain | 1.0000 |
| 19:58206718:A:AG | acceptor_gain | 1.0000 |
| 19:58206718:AGA:A | acceptor_gain | 1.0000 |
| 19:58206719:G:GA | acceptor_gain | 1.0000 |
| 19:58206719:GA:G | acceptor_gain | 1.0000 |
| 19:58206719:GAG:G | acceptor_gain | 1.0000 |
| 19:58206719:GAGT:G | acceptor_gain | 1.0000 |
| 19:58207198:GGAAG:G | donor_gain | 1.0000 |
| 19:58207199:GAAG:G | donor_gain | 1.0000 |
| 19:58207199:GAAGG:G | donor_gain | 1.0000 |
| 19:58207200:AAG:A | donor_gain | 1.0000 |
| 19:58207201:AG:A | donor_gain | 1.0000 |
| 19:58207202:GG:G | donor_gain | 1.0000 |
AlphaMissense
4297 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:58213063:T:C | F628L | 1.000 |
| 19:58213065:C:A | F628L | 1.000 |
| 19:58213065:C:G | F628L | 1.000 |
| 19:58212811:T:C | F544L | 0.999 |
| 19:58212813:T:A | F544L | 0.999 |
| 19:58212813:T:G | F544L | 0.999 |
| 19:58212895:T:C | F572L | 0.999 |
| 19:58212897:C:A | F572L | 0.999 |
| 19:58212897:C:G | F572L | 0.999 |
| 19:58212979:T:C | F600L | 0.999 |
| 19:58212981:C:A | F600L | 0.999 |
| 19:58212981:C:G | F600L | 0.999 |
| 19:58213064:T:C | F628S | 0.999 |
| 19:58212924:C:A | H581Q | 0.998 |
| 19:58212924:C:G | H581Q | 0.998 |
| 19:58213006:C:G | H609D | 0.998 |
| 19:58213008:T:A | H609Q | 0.998 |
| 19:58213008:T:G | H609Q | 0.998 |
| 19:58213082:T:C | L634P | 0.998 |
| 19:58212812:T:C | F544S | 0.997 |
| 19:58213092:C:A | H637Q | 0.997 |
| 19:58213092:C:G | H637Q | 0.997 |
| 19:58212830:T:C | L550P | 0.996 |
| 19:58212840:T:A | H553Q | 0.996 |
| 19:58212840:T:G | H553Q | 0.996 |
| 19:58212842:A:C | Q554P | 0.996 |
| 19:58212980:T:C | F600S | 0.996 |
| 19:58212998:T:C | L606P | 0.996 |
| 19:58213006:C:A | H609N | 0.996 |
| 19:58213010:A:C | Q610P | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000012764 (19:58209034 G>A), RS1000087855 (19:58193186 G>A), RS1000116566 (19:58199691 T>C), RS1000181152 (19:58184293 T>TG), RS1000205213 (19:58187329 C>A,T), RS1000367741 (19:58204591 T>G), RS1000416833 (19:58193476 G>A), RS1000500197 (19:58189195 T>G), RS1000768237 (19:58211927 C>G), RS1000865080 (19:58195246 T>C), RS1000874552 (19:58188360 G>C), RS1001107900 (19:58183380 C>T), RS1001546246 (19:58185013 G>A,C,T), RS1001638007 (19:58204211 G>A), RS1001640879 (19:58185421 C>G)
Disease associations
OMIM: gene MIM:605467 | 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 |
|---|---|---|
| GCST002896_47 | Cholesterol, total | 5.000000e-08 |
| GCST002898_42 | LDL cholesterol | 1.000000e-08 |
| GCST007239_26 | Ovarian cancer | 5.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004574 | total cholesterol measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cisplatin | increases expression, affects cotreatment, decreases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| geraniol | increases expression | 1 |
| methylselenic acid | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| cupric oxide | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| diethyl malate | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| deguelin | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| K 7174 | increases expression | 1 |
| abrine | increases expression | 1 |
| picoxystrobin | increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Gemcitabine | increases expression | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Piroxicam | affects cotreatment, decreases expression | 1 |
| Selenium | affects cotreatment, decreases expression | 1 |
Cellosaurus cell lines
6 cell lines: 3 embryonic stem cell, 2 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A8F9 | SEES3-1V human ZNF274, clone1 | Embryonic stem cell | Male |
| CVCL_A8G0 | SEES3-1V human ZNF274, clone2 | Embryonic stem cell | Male |
| CVCL_A8G1 | SEES3-1V human ZNF274, clone3 | Embryonic stem cell | Male |
| CVCL_E2PS | HAP1 ZNF274 (-) 1 | Cancer cell line | Male |
| CVCL_E2PT | HAP1 ZNF274 (-) 2 | Cancer cell line | Male |
| CVCL_XW27 | HEK293 eGFP-ZNF274 | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): ovarian carcinoma