ZNF346
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Also known as JAZZfp346
Summary
ZNF346 (zinc finger protein 346, HGNC:16403) is a protein-coding gene on chromosome 5q35.2, encoding Zinc finger protein 346 (Q9UL40). Binds with low affinity to dsDNA and ssRNA, and with high affinity to dsRNA, with no detectable sequence specificity.
The protein encoded by this gene is a nucleolar, zinc finger protein that preferentially binds to double-stranded (ds) RNA or RNA/DNA hybrids, rather than DNA alone. Mutational studies indicate that the zinc finger domains are not only essential for dsRNA binding, but are also required for its nucleolar localization. The encoded protein may be involved in cell growth and survival. It plays a role in protecting neurons by inhibiting cell cycle re-entry via stimulation of p21 gene expression. Alternative splicing of this gene results in multiple transcript variants.
Source: NCBI Gene 23567 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 46 total
- MANE Select transcript:
NM_012279
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16403 |
| Approved symbol | ZNF346 |
| Name | zinc finger protein 346 |
| Location | 5q35.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | JAZ, Zfp346 |
| Ensembl gene | ENSG00000113761 |
| Ensembl biotype | protein_coding |
| OMIM | 605308 |
| Entrez | 23567 |
Gene structure
Transcript identifiers
Ensembl transcripts: 31 — 27 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay
ENST00000358149, ENST00000503039, ENST00000503425, ENST00000504600, ENST00000506693, ENST00000508155, ENST00000510933, ENST00000511834, ENST00000512315, ENST00000513587, ENST00000883438, ENST00000883439, ENST00000883440, ENST00000883441, ENST00000883442, ENST00000883443, ENST00000883444, ENST00000883445, ENST00000883446, ENST00000883447, ENST00000883448, ENST00000883449, ENST00000921160, ENST00000921161, ENST00000921162, ENST00000921163, ENST00000921164, ENST00000921165, ENST00000947036, ENST00000947037, ENST00000947038
RefSeq mRNA: 10 — MANE Select: NM_012279
NM_001308213, NM_001308214, NM_001308215, NM_001308216, NM_001308218, NM_001308219, NM_001308221, NM_001308223, NM_001363713, NM_012279
CCDS: CCDS4409, CCDS78094, CCDS83052, CCDS83053, CCDS83054, CCDS87353
Canonical transcript exons
ENST00000358149 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001095546 | 177041778 | 177041870 |
| ENSE00001095551 | 177044389 | 177044533 |
| ENSE00001412343 | 177022696 | 177022913 |
| ENSE00001426578 | 177064512 | 177067985 |
| ENSE00003501605 | 177041126 | 177041229 |
| ENSE00003575048 | 177062058 | 177062151 |
| ENSE00003617799 | 177050751 | 177050936 |
Expression profiles
Bgee: expression breadth ubiquitous, 217 present calls, max score 90.13.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.2069 / max 270.4276, expressed in 1811 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 60443 | 21.5134 | 1811 |
| 60444 | 0.6934 | 438 |
Top tissues by expression
243 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 90.13 | gold quality |
| buccal mucosa cell | CL:0002336 | 89.76 | gold quality |
| cortical plate | UBERON:0005343 | 89.46 | gold quality |
| ventricular zone | UBERON:0003053 | 89.09 | gold quality |
| sural nerve | UBERON:0015488 | 89.04 | gold quality |
| ganglionic eminence | UBERON:0004023 | 88.95 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 87.25 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.55 | gold quality |
| calcaneal tendon | UBERON:0003701 | 86.48 | gold quality |
| tendon | UBERON:0000043 | 85.66 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 85.02 | gold quality |
| tibialis anterior | UBERON:0001385 | 84.86 | silver quality |
| adrenal tissue | UBERON:0018303 | 84.54 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 84.44 | silver quality |
| right hemisphere of cerebellum | UBERON:0014890 | 83.95 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 83.90 | gold quality |
| cerebellar cortex | UBERON:0002129 | 83.87 | gold quality |
| cerebellum | UBERON:0002037 | 83.78 | gold quality |
| colonic epithelium | UBERON:0000397 | 83.62 | gold quality |
| prefrontal cortex | UBERON:0000451 | 83.61 | gold quality |
| left ovary | UBERON:0002119 | 83.44 | gold quality |
| right ovary | UBERON:0002118 | 83.21 | gold quality |
| oocyte | CL:0000023 | 82.92 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 82.69 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 82.66 | gold quality |
| thyroid gland | UBERON:0002046 | 82.59 | gold quality |
| blood | UBERON:0000178 | 82.53 | gold quality |
| tonsil | UBERON:0002372 | 82.34 | gold quality |
| islet of Langerhans | UBERON:0000006 | 82.32 | gold quality |
| bone marrow cell | CL:0002092 | 82.18 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.40 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): TP53
miRNA regulators (miRDB)
124 targeting ZNF346, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| 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-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-329-3P | 99.91 | 66.56 | 1234 |
| HSA-MIR-362-3P | 99.91 | 66.38 | 1267 |
| HSA-MIR-5682 | 99.89 | 72.56 | 1005 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
Literature-anchored findings (GeneRIF, showing 4)
- JAZ is exported by exportin-5 but translocates back into nuclei by a facilitated diffusion mechanism (PMID:15254228)
- JAZ directly binds E2F1 in vitro in a dsRNA-independent manner, and JAZ’s dsRNA binding ZF domains, which are necessary for localizing JAZ to the nucleus, are required for repression of transcriptional activity in vivo. (PMID:21715977)
- This detection method can be readily extended to multiplex detection of miRNAs with only one ALP-conjugated JAZ probe due to its nonsequence-specific binding character (PMID:28208259)
- ZNF385A and ZNF346 Serve as Prognostic Biomarkers Associated with an Inflamed Immunosuppressive Tumor Microenvironment in Hepatocellular Carcinoma. (PMID:36834567)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf346 | ENSDARG00000060695 |
| mus_musculus | Zfp346 | ENSMUSG00000021481 |
| rattus_norvegicus | Zfp346 | ENSRNOG00000016867 |
| drosophila_melanogaster | CG1231 | FBGN0035134 |
| drosophila_melanogaster | dbf | FBGN0287630 |
Paralogs (9): ZNF385B (ENSG00000144331), ZMAT2 (ENSG00000146007), ZNF385D (ENSG00000151789), ZNF385A (ENSG00000161642), ZMAT4 (ENSG00000165061), ZMAT1 (ENSG00000166432), KRCC1 (ENSG00000172086), ZMAT3 (ENSG00000172667), ZNF385C (ENSG00000187595)
Protein
Protein identifiers
Zinc finger protein 346 — Q9UL40 (reviewed: Q9UL40)
Alternative names: Just another zinc finger protein
All UniProt accessions (6): Q9UL40, B7Z4J8, B7Z4N4, B7Z6B6, B7Z6Q2, D6RJ07
UniProt curated annotations — full annotation on UniProt →
Function. Binds with low affinity to dsDNA and ssRNA, and with high affinity to dsRNA, with no detectable sequence specificity. May bind to specific miRNA hairpins.
Subunit / interactions. Forms a heteromeric complex with XPO5 and ILF3. Found in a nuclear export complex with XPO5, RAN, ILF3, ZNF346 and double-stranded RNA. Interacts with XPO5. Interacts with ILF3 in an RNA-independent manner.
Subcellular location. Nucleus. Nucleolus. Cytoplasm.
Domain organisation. The zinc-finger domains are required for binding to dsRNA, and also for nuclear localization.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UL40-1 | 1 | yes |
| Q9UL40-2 | 2 | |
| Q9UL40-3 | 3 |
RefSeq proteins (10): NP_001295142, NP_001295143, NP_001295144, NP_001295145, NP_001295147, NP_001295148, NP_001295150, NP_001295152, NP_001350642, NP_036411* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003604 | Matrin/U1-like-C_Znf_C2H2 | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR051868 | ZN346_ZMAT4 | Family |
Pfam: PF12874
UniProt features (29 total): binding site 8, zinc finger region 4, cross-link 2, splice variant 2, turn 2, strand 2, helix 2, region of interest 2, compositionally biased region 2, chain 1, modified residue 1, sequence conflict 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2MKD | SOLUTION NMR | |
| 2MKN | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UL40-F1 | 67.17 | 0.10 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (8): 78; 91; 97; 136; 139; 152; 158; 75
Post-translational modifications (3): 1, 114, 170
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 89 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, MAYBURD_RESPONSE_TO_L663536_UP, PETRETTO_LEFT_VENTRICLE_MASS_QTL_CIS_DN, GOCC_NUCLEOLUS, GOMF_MIRNA_BINDING, GEORGES_TARGETS_OF_MIR192_AND_MIR215, GOMF_REGULATORY_RNA_BINDING, BANP_TARGET_GENES, DYRK1A_TARGET_GENES, FEV_TARGET_GENES, HOXB4_TARGET_GENES, ID2_TARGET_GENES, IRF5_TARGET_GENES, NFE2L1_TARGET_GENES
GO Biological Process (0):
GO Molecular Function (8): RNA binding (GO:0003723), double-stranded RNA binding (GO:0003725), zinc ion binding (GO:0008270), enzyme binding (GO:0019899), miRNA binding (GO:0035198), nucleic acid binding (GO:0003676), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| nuclear lumen | 2 |
| cellular anatomical structure | 2 |
| nucleic acid binding | 1 |
| RNA binding | 1 |
| transition metal ion binding | 1 |
| protein binding | 1 |
| regulatory RNA binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
980 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF346 | MYC | P01106 | 986 |
| ZNF346 | ICE2 | Q659A1 | 947 |
| ZNF346 | MT-CO1 | P00395 | 899 |
| ZNF346 | SKP1 | P34991 | 841 |
| ZNF346 | HBS1L | Q9Y450 | 822 |
| ZNF346 | CUL1 | Q13616 | 750 |
| ZNF346 | A0A087WZY1 | A0A087WZY1 | 720 |
| ZNF346 | EIF2AK2 | P19525 | 715 |
| ZNF346 | PRH1 | P02810 | 715 |
| ZNF346 | SFRP4 | Q6FHJ7 | 696 |
| ZNF346 | ETF1 | P46055 | 695 |
| ZNF346 | ICE1 | Q9Y2F5 | 667 |
| ZNF346 | LOX | P28300 | 575 |
| ZNF346 | RBX1 | P62877 | 572 |
| ZNF346 | MYBL2 | P10244 | 571 |
IntAct
128 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZNF346 | TARBP2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TARBP2 | ZNF346 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZNF346 | EIF2AK2 | psi-mi:“MI:0915”(physical association) | 0.710 |
| NKRF | ZNF346 | psi-mi:“MI:0915”(physical association) | 0.670 |
| STRBP | ZNF346 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF8 | ZNF346 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ADARB1 | ZNF346 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LNX1 | ZNF346 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF346 | YWHAG | psi-mi:“MI:0915”(physical association) | 0.560 |
| BAG6 | ZNF346 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLF11 | ZNF346 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF346 | SETDB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF346 | KAT5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LMO3 | ZNF346 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HNRNPD | HNRNPDL | psi-mi:“MI:0914”(association) | 0.560 |
| N | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (444): ZNF346 (Two-hybrid), ZNF346 (Affinity Capture-MS), ZNF346 (Affinity Capture-MS), ZNF346 (Affinity Capture-MS), ZNF346 (Affinity Capture-MS), ZNF346 (Affinity Capture-MS), ZNF346 (Affinity Capture-MS), ZNF346 (Affinity Capture-MS), ZNF346 (Affinity Capture-MS), ZNF346 (Affinity Capture-MS), ZNF346 (Affinity Capture-MS), ZNF346 (Affinity Capture-MS), ZNF346 (Affinity Capture-MS), ZNF346 (Affinity Capture-MS), ZNF346 (Affinity Capture-MS)
ESM2 similar proteins: A2RV29, A4QP16, B0JZ85, F4I7L1, O23463, O48772, O64571, P43243, P43244, Q0VD35, Q10KL8, Q28EG9, Q32NW2, Q3KQ71, Q569K4, Q5R4W8, Q5ZDJ6, Q66IH2, Q6AXX3, Q6NPP4, Q6PBT9, Q7XHR2, Q8BXJ8, Q8GSA7, Q8K310, Q8LMR2, Q8S9H7, Q90Y35, Q94AD9, Q9C682, Q9D8C3, Q9ERV1, Q9FFH1, Q9FH37, Q9FYG2, Q9H000, Q9H6B1, Q9H898, Q9LES2, Q9LES3
Diamond homologs: A2RV29, B0JZ85, O08781, O54836, Q0IIC4, Q0VD35, Q28EG9, Q5H9K5, Q5R4W8, Q8AVN9, Q8BZ94, Q9H898, Q9HA38, Q9R0B7, Q9UL40, O88532, Q5REX3, Q5U231, Q6GPM1, Q96KR1, Q17QQ9, Q5PPL1, Q5R6I3, Q99JT5, Q9NPI7, Q3V0C1, A0A096LPI5, A6NJG6, F2Z398, Q09FC8, Q68CZ1, Q8IV13, Q8N9N2, Q8TDM0, Q92918, Q96J02, Q96MD7
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 127 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Eukaryotic Translation Initiation | 8 | 30.5× | 5e-09 |
| Cap-dependent Translation Initiation | 8 | 30.5× | 5e-09 |
| SARS-CoV-1 modulates host translation machinery | 8 | 30.5× | 5e-09 |
| Eukaryotic Translation Elongation | 8 | 27.5× | 1e-08 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | 8 | 26.9× | 1e-08 |
| Nonsense-Mediated Decay (NMD) | 8 | 23.0× | 3e-08 |
| SARS-CoV-2 modulates host translation machinery | 8 | 22.1× | 4e-08 |
| Influenza Viral RNA Transcription and Replication | 8 | 21.3× | 6e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 12 | 20.8× | 3e-10 |
| ribosomal small subunit biogenesis | 9 | 19.1× | 2e-07 |
| RNA processing | 6 | 12.3× | 1e-03 |
| translation | 12 | 11.5× | 2e-07 |
| rRNA processing | 7 | 9.3× | 1e-03 |
| negative regulation of translation | 5 | 9.2× | 9e-03 |
| mRNA splicing, via spliceosome | 7 | 6.0× | 8e-03 |
| RNA splicing | 7 | 5.8× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
46 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 35 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1526 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:177041121:TATA:T | acceptor_loss | 1.0000 |
| 5:177041122:ATAGT:A | acceptor_gain | 1.0000 |
| 5:177041123:T:G | acceptor_gain | 1.0000 |
| 5:177041124:A:AC | acceptor_loss | 1.0000 |
| 5:177041124:A:AG | acceptor_gain | 1.0000 |
| 5:177041124:AGT:A | acceptor_gain | 1.0000 |
| 5:177041124:AGTG:A | acceptor_gain | 1.0000 |
| 5:177041125:G:A | acceptor_loss | 1.0000 |
| 5:177041125:G:GT | acceptor_gain | 1.0000 |
| 5:177041125:GT:G | acceptor_gain | 1.0000 |
| 5:177041125:GTG:G | acceptor_gain | 1.0000 |
| 5:177041125:GTGG:G | acceptor_gain | 1.0000 |
| 5:177041125:GTGGA:G | acceptor_gain | 1.0000 |
| 5:177041226:CCAG:C | donor_loss | 1.0000 |
| 5:177041227:CAG:C | donor_loss | 1.0000 |
| 5:177041229:GGTAT:G | donor_loss | 1.0000 |
| 5:177041230:G:A | donor_loss | 1.0000 |
| 5:177041231:T:A | donor_loss | 1.0000 |
| 5:177041766:G:A | acceptor_gain | 1.0000 |
| 5:177041777:GAGC:G | acceptor_gain | 1.0000 |
| 5:177044383:A:AG | acceptor_gain | 1.0000 |
| 5:177044384:A:G | acceptor_gain | 1.0000 |
| 5:177044388:GA:G | acceptor_gain | 1.0000 |
| 5:177064400:A:T | donor_gain | 1.0000 |
| 5:177041122:A:AG | acceptor_gain | 0.9900 |
| 5:177041172:GT:G | donor_gain | 0.9900 |
| 5:177041765:T:TA | acceptor_gain | 0.9900 |
| 5:177041772:TTGCA:T | acceptor_loss | 0.9900 |
| 5:177041773:TGCA:T | acceptor_loss | 0.9900 |
| 5:177041774:GCA:G | acceptor_loss | 0.9900 |
AlphaMissense
1947 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:177041159:T:C | F70S | 1.000 |
| 5:177041173:T:A | C75S | 1.000 |
| 5:177041173:T:C | C75R | 1.000 |
| 5:177041174:G:C | C75S | 1.000 |
| 5:177041175:T:G | C75W | 1.000 |
| 5:177041182:T:C | C78R | 1.000 |
| 5:177041183:G:A | C78Y | 1.000 |
| 5:177041184:C:G | C78W | 1.000 |
| 5:177041221:C:A | H91N | 1.000 |
| 5:177041221:C:G | H91D | 1.000 |
| 5:177041223:T:A | H91Q | 1.000 |
| 5:177041223:T:G | H91Q | 1.000 |
| 5:177041224:T:G | Y92D | 1.000 |
| 5:177041789:T:A | H97Q | 1.000 |
| 5:177041789:T:G | H97Q | 1.000 |
| 5:177044431:T:C | C139R | 1.000 |
| 5:177044470:C:G | H152D | 1.000 |
| 5:177044472:C:A | H152Q | 1.000 |
| 5:177044472:C:G | H152Q | 1.000 |
| 5:177044480:G:A | G155E | 1.000 |
| 5:177050792:T:C | C187R | 1.000 |
| 5:177062114:T:G | Y254D | 1.000 |
| 5:177041158:T:C | F70L | 0.999 |
| 5:177041160:C:A | F70L | 0.999 |
| 5:177041160:C:G | F70L | 0.999 |
| 5:177041174:G:A | C75Y | 0.999 |
| 5:177041174:G:T | C75F | 0.999 |
| 5:177041180:T:A | V77D | 0.999 |
| 5:177041182:T:A | C78S | 0.999 |
| 5:177041183:G:C | C78S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000081300 (5:177067063 CAAAAT>C), RS1000097001 (5:177058909 T>G), RS1000129732 (5:177058586 T>C,G), RS1000153445 (5:177037423 C>CTA), RS1000185971 (5:177042109 A>G), RS1000211613 (5:177061047 G>C,T), RS1000240271 (5:177023456 A>G), RS1000321140 (5:177035572 T>C), RS1000324859 (5:177078237 G>A), RS1000347644 (5:177078866 G>A), RS1000358683 (5:177049233 C>T), RS1000369643 (5:177064885 C>T), RS1000371845 (5:177035806 C>T), RS1000409765 (5:177053009 A>T), RS1000576018 (5:177054201 T>G)
Disease associations
OMIM: gene MIM:605308 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005956_15 | Waist-to-hip ratio adjusted for BMI | 1.000000e-07 |
| GCST005957_13 | Waist-to-hip ratio adjusted for BMI (age <50) | 3.000000e-07 |
| GCST005962_42 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 1.000000e-08 |
| GCST006462_28 | Uterine fibroids | 2.000000e-09 |
| GCST007847_86 | Type 2 diabetes | 4.000000e-10 |
| GCST008163_436 | Height | 3.000000e-06 |
| GCST008163_499 | Height | 1.000000e-06 |
| GCST008839_14 | Height | 1.000000e-11 |
| GCST009158_5 | Uterine fibroids | 1.000000e-11 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression | 4 |
| bisphenol A | affects cotreatment, increases methylation, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| di-n-butylphosphoric acid | affects 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 | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Arsenic | affects methylation | 1 |
| Atrazine | decreases expression | 1 |
| Cannabidiol | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ivermectin | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | decreases expression | 1 |
| T-2 Toxin | increases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_XW35 | HEK293 eGFP-ZNF346 | 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): uterine corpus leiomyoma