ZNRF2
gene geneOn this page
Also known as RNF202
Summary
ZNRF2 (zinc and ring finger 2, HGNC:22316) is a protein-coding gene on chromosome 7p14.3, encoding E3 ubiquitin-protein ligase ZNRF2 (Q8NHG8). E3 ubiquitin-protein ligase that plays a role in the establishment and maintenance of neuronal transmission and plasticity.
Enables ubiquitin protein ligase activity. Involved in positive regulation of autophagosome-lysosome fusion. Located in cytoplasmic vesicle membrane; nuclear lumen; and plasma membrane. Part of protein-containing complex. Is active in intracellular membrane-bounded organelle.
Source: NCBI Gene 223082 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 12 total
- MANE Select transcript:
NM_147128
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:22316 |
| Approved symbol | ZNRF2 |
| Name | zinc and ring finger 2 |
| Location | 7p14.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RNF202 |
| Ensembl gene | ENSG00000180233 |
| Ensembl biotype | protein_coding |
| OMIM | 612061 |
| Entrez | 223082 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000323037, ENST00000459998, ENST00000937786, ENST00000953272, ENST00000953273
RefSeq mRNA: 1 — MANE Select: NM_147128
NM_147128
CCDS: CCDS5426
Canonical transcript exons
ENST00000323037 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001220250 | 30355728 | 30355833 |
| ENSE00001264445 | 30323642 | 30323737 |
| ENSE00001264455 | 30362377 | 30362456 |
| ENSE00001375265 | 30284597 | 30285826 |
| ENSE00001819686 | 30366035 | 30367689 |
Expression profiles
Bgee: expression breadth ubiquitous, 216 present calls, max score 89.32.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.5695 / max 154.1745, expressed in 1647 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 77978 | 3.5225 | 1271 |
| 77981 | 2.8435 | 1095 |
| 77980 | 1.2274 | 740 |
| 77979 | 0.5525 | 340 |
| 77977 | 0.5178 | 259 |
| 77983 | 0.4544 | 264 |
| 77982 | 0.4512 | 250 |
Top tissues by expression
241 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.32 | gold quality |
| buccal mucosa cell | CL:0002336 | 88.47 | silver quality |
| monocyte | CL:0000576 | 87.58 | gold quality |
| calcaneal tendon | UBERON:0003701 | 87.55 | gold quality |
| leukocyte | CL:0000738 | 87.36 | gold quality |
| rectum | UBERON:0001052 | 86.72 | gold quality |
| islet of Langerhans | UBERON:0000006 | 85.91 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 84.72 | gold quality |
| secondary oocyte | CL:0000655 | 84.12 | gold quality |
| right lobe of liver | UBERON:0001114 | 83.96 | gold quality |
| jejunal mucosa | UBERON:0000399 | 82.92 | gold quality |
| cortical plate | UBERON:0005343 | 82.71 | gold quality |
| colonic mucosa | UBERON:0000317 | 82.58 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 82.26 | gold quality |
| vermiform appendix | UBERON:0001154 | 81.99 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 81.32 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 81.29 | silver quality |
| testis | UBERON:0000473 | 81.06 | gold quality |
| duodenum | UBERON:0002114 | 80.97 | gold quality |
| right testis | UBERON:0004534 | 80.87 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 80.69 | gold quality |
| left testis | UBERON:0004533 | 80.56 | gold quality |
| liver | UBERON:0002107 | 80.42 | gold quality |
| granulocyte | CL:0000094 | 80.39 | gold quality |
| pancreas | UBERON:0001264 | 80.28 | gold quality |
| sperm | CL:0000019 | 80.22 | gold quality |
| gall bladder | UBERON:0002110 | 80.18 | gold quality |
| lymph node | UBERON:0000029 | 80.00 | gold quality |
| tendon | UBERON:0000043 | 79.82 | gold quality |
| oral cavity | UBERON:0000167 | 79.69 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.93 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): TP63
miRNA regulators (miRDB)
188 targeting ZNRF2, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-3162-3P | 100.00 | 65.37 | 363 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| 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-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
Literature-anchored findings (GeneRIF, showing 6)
- identification of ZNRF2; data suggest that ZNRF proteins play a role in the establishment and maintenance of neuronal transmission and plasticity via their ubiquitin ligase activity [ZNRF2] (PMID:14561866)
- ZNRF1 and ZNRF2 are new players in regulation of the ubiquitous Na(+)/K(+)ATPase that is tuned to changing demands in many physiological contexts. (PMID:22797923)
- These findings uncover ZNRF2 as a component of the amino acid sensing machinery that acts upstream of Rag-GTPases and the V-ATPase to activate mTORC1. (PMID:27244671)
- Results detected significantly higher levels of ZNRF2 in osteosarcoma cells (OS) and provide evidence that ZNRF2 enhances OS cell growth and improves survival against doxorubicin. (PMID:28416774)
- The findings obtained in the present study indicate that TTN-AS1 facilitated PTC progression by regulating the miR-153-3p/ZNRF2 axis and activating the PI3K/Akt/mTOR pathway. (PMID:30811764)
- A pancancer analysis of the oncogenic role of ZNRF2 in human tumours. (PMID:37551845)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znrf2b | ENSDARG00000098792 |
| mus_musculus | Znrf2 | ENSMUSG00000058446 |
| rattus_norvegicus | Znrf2 | ENSRNOG00000049057 |
| drosophila_melanogaster | CG14435 | FBGN0029911 |
| caenorhabditis_elegans | Y71F9AL.10 | WBGENE00022115 |
Paralogs (2): RNF11 (ENSG00000123091), ZNRF1 (ENSG00000186187)
Protein
Protein identifiers
E3 ubiquitin-protein ligase ZNRF2 — Q8NHG8 (reviewed: Q8NHG8)
Alternative names: Protein Ells2, RING finger protein 202, RING-type E3 ubiquitin transferase ZNRF2, Zinc/RING finger protein 2
All UniProt accessions (2): Q8NHG8, A0A090N8Y8
UniProt curated annotations — full annotation on UniProt →
Function. E3 ubiquitin-protein ligase that plays a role in the establishment and maintenance of neuronal transmission and plasticity. Ubiquitinates the Na(+)/K(+) ATPase alpha-1 subunit/ATP1A1 and thereby influences its endocytosis and/or degradation. Acts also as a positive regulator of mTORC1 activation by amino acids, which functions upstream of the V-ATPase and of Rag-GTPases. In turn, phosphorylation by mTOR leads to its inhibition via targeting to the cytosol allowing a self-regulating feedback mechanism.
Subunit / interactions. Interacts with UBE2N. Interacts with ZNRF1. Interacts (when phosphorylated) with YWHAE.
Subcellular location. Endosome membrane. Lysosome membrane. Presynaptic cell membrane. Cytoplasm.
Tissue specificity. Highly expressed in the brain, with higher expression during development than in adult. Expressed also in mammary glands, testis, colon and kidney.
Post-translational modifications. Phosphorylated; leading to binding to YWHAE. Phosphorylated by MTOR at Ser-145 and dephosphorylated by PP6C. Ser-145 phosphorylation stimulates vesicle-to-cytosol translocation.
Domain organisation. The RING-type zinc finger domain is required for E3 ligase activity.
Pathway. Protein modification; protein ubiquitination.
RefSeq proteins (1): NP_667339* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001841 | Znf_RING | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR051878 | ZNRF_ubiq-protein_ligase | Family |
Pfam: PF13639
UniProt features (24 total): modified residue 11, mutagenesis site 4, compositionally biased region 4, initiator methionine 1, chain 1, lipid moiety-binding region 1, zinc finger region 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NHG8-F1 | 67.87 | 0.28 |
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 (12): 25, 82, 89, 113, 116, 135, 145, 151, 193, 2, 19, 21
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 2 | complete loss of binding to atp1a1. |
| 19 | counteracts the n-myristoyl-mediated targeting of znrf2 to membranes. |
| 82 | partial decrease of ywhae binding upon igf1 stimulation. |
| 145 | partial decrease of ywhae binding upon igf1 stimulation. more distinct membranal localization. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
MSigDB gene sets: 217 (showing top):
SHEPARD_BMYB_MORPHOLINO_UP, GOBP_REGULATION_OF_VESICLE_FUSION, CCAWYNNGAAR_UNKNOWN, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, GOCC_VACUOLAR_MEMBRANE, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_VESICLE_ORGANIZATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_MEMBRANE_FUSION, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, CTATGCA_MIR153
GO Biological Process (5): proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), protein K48-linked ubiquitination (GO:0070936), positive regulation of autophagosome-lysosome fusion (GO:0160177), protein ubiquitination (GO:0016567), intracellular potassium ion homeostasis (GO:0030007)
GO Molecular Function (4): zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (15): fibrillar center (GO:0001650), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), lysosomal membrane (GO:0005765), cytosol (GO:0005829), plasma membrane (GO:0005886), endosome membrane (GO:0010008), membrane (GO:0016020), cytoplasmic vesicle membrane (GO:0030659), protein-containing complex (GO:0032991), presynaptic membrane (GO:0042734), lysosome (GO:0005764), endosome (GO:0005768), cell projection (GO:0042995), synapse (GO:0045202)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Class I MHC mediated antigen processing & presentation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 6 |
| cytoplasmic vesicle | 2 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| protein polyubiquitination | 1 |
| positive regulation of vesicle fusion | 1 |
| autophagosome-lysosome fusion | 1 |
| protein modification by small protein conjugation | 1 |
| intracellular monoatomic cation homeostasis | 1 |
| potassium ion homeostasis | 1 |
| transition metal ion binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| nucleolus | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| endosome | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
| vesicle membrane | 1 |
| cellular_component | 1 |
| synaptic membrane | 1 |
| presynapse | 1 |
| lytic vacuole | 1 |
| endomembrane system | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
474 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNRF2 | UBE2D2 | P51669 | 786 |
| ZNRF2 | A0A087WY85 | A0A087WY85 | 693 |
| ZNRF2 | UBE2S | Q16763 | 597 |
| ZNRF2 | ZNRF4 | Q8WWF5 | 595 |
| ZNRF2 | RNF2 | Q99496 | 547 |
| ZNRF2 | CWC25 | Q9NXE8 | 543 |
| ZNRF2 | RSPRY1 | Q96DX4 | 533 |
| ZNRF2 | EAF1 | Q96JC9 | 520 |
| ZNRF2 | CLXN | Q9HAE3 | 498 |
| ZNRF2 | GPATCH3 | Q96I76 | 488 |
| ZNRF2 | METTL6 | Q8TCB7 | 451 |
| ZNRF2 | ZNRF3 | Q9ULT6 | 448 |
| ZNRF2 | PLEKHA8 | Q96JA3 | 446 |
| ZNRF2 | RBM5 | P52756 | 437 |
| ZNRF2 | SNX20 | Q7Z614 | 434 |
IntAct
20 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UBE2N | UBA1 | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAG | SHTN1 | psi-mi:“MI:0914”(association) | 0.560 |
| WDR5B | TCP1 | psi-mi:“MI:0914”(association) | 0.530 |
| CHCHD4 | ENSA | psi-mi:“MI:0914”(association) | 0.530 |
| SLC37A4 | ZNRF2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CGB1 | ZNRF2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAH | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| ABCA2 | ABCD4 | psi-mi:“MI:0914”(association) | 0.350 |
| NCKAP5 | KIF3C | psi-mi:“MI:0914”(association) | 0.350 |
| ZNRF2 | ANKRD28 | psi-mi:“MI:0914”(association) | 0.350 |
| EEA1 | HSBP1 | psi-mi:“MI:0914”(association) | 0.350 |
| MYH3 | MYH6 | psi-mi:“MI:0914”(association) | 0.350 |
| WDR5B | HSPA8 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNRF2 | BMH1 | psi-mi:“MI:0914”(association) | 0.350 |
| UBE2N | ZNRF2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ZNRF2 | cca | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (80): ZNRF2 (Affinity Capture-MS), ATP1A1 (Biochemical Activity), UBC (Biochemical Activity), UBE2N (Reconstituted Complex), ZNRF2 (Affinity Capture-MS), MTOR (Affinity Capture-Western), RPTOR (Affinity Capture-Western), MLST8 (Affinity Capture-Western), ZNRF2 (Biochemical Activity), PPP6C (Affinity Capture-Western), ANKRD28 (Affinity Capture-Western), PPP6R3 (Affinity Capture-Western), ZNRF2 (Biochemical Activity), ATP6V0A2 (Affinity Capture-Western), LAMTOR1 (Affinity Capture-Western)
ESM2 similar proteins: A1L020, A1L3F4, A7X8B3, A7X8B5, A7X8B7, A7X8B9, A7X8C2, A7X8C4, A7X8C7, A7X8C9, A7X8D2, A7X8D4, A7XW25, O97775, O97776, O97952, O97960, P06401, P10275, P84550, P84551, P89463, Q01JD1, Q05A36, Q0VDT2, Q3UE17, Q5PQQ7, Q5U5Q3, Q69Z36, Q6QT55, Q6ZK57, Q6ZN04, Q71FD5, Q7RTV3, Q7TSJ6, Q7XQN1, Q7XT42, Q84SL2, Q86XN8, Q8BQ89
Diamond homologs: A0A0D1E015, A0JMD2, A1CEK1, A1DFP5, A2QWA2, A4QTV1, A8QCE4, A8XJZ8, B0G126, B0WAQ0, B3MT31, B3P851, B4G2G5, B4IC49, B4JHI7, B4K982, B4M140, B4NFJ7, B4PRU6, D2H5P6, D3ZVP7, D4A8G9, E1BLZ4, F1MM41, F7EP40, O13821, O14964, O59722, O76902, O95405, O96838, P0CS26, P0CS27, P34756, P40343, Q05B78, Q08CN9, Q0CJV3, Q0P4S0, Q0U4Z8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | ZNRF2 | ubiquitination |
Disease & clinical
Clinical variants and AI predictions
ClinVar
12 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 6 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1401 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:30323736:TGG:T | donor_loss | 1.0000 |
| 7:30323737:GGT:G | donor_loss | 1.0000 |
| 7:30323738:GTAA:G | donor_loss | 1.0000 |
| 7:30323739:T:G | donor_loss | 1.0000 |
| 7:30355832:GG:G | donor_gain | 1.0000 |
| 7:30355833:GG:G | donor_gain | 1.0000 |
| 7:30366052:A:G | acceptor_gain | 1.0000 |
| 7:30323636:TTTTA:T | acceptor_loss | 0.9900 |
| 7:30323637:TTTA:T | acceptor_loss | 0.9900 |
| 7:30323638:TTAG:T | acceptor_loss | 0.9900 |
| 7:30323639:TA:T | acceptor_loss | 0.9900 |
| 7:30323640:A:AG | acceptor_gain | 0.9900 |
| 7:30323640:A:C | acceptor_loss | 0.9900 |
| 7:30323640:AG:A | acceptor_gain | 0.9900 |
| 7:30323641:G:A | acceptor_loss | 0.9900 |
| 7:30323641:G:GG | acceptor_gain | 0.9900 |
| 7:30323641:GG:G | acceptor_gain | 0.9900 |
| 7:30323738:G:GG | donor_gain | 0.9900 |
| 7:30323740:AA:A | donor_loss | 0.9900 |
| 7:30342792:A:G | donor_gain | 0.9900 |
| 7:30355216:T:G | donor_gain | 0.9900 |
| 7:30355244:T:G | donor_gain | 0.9900 |
| 7:30355726:A:AG | acceptor_gain | 0.9900 |
| 7:30355726:AGAG:A | acceptor_gain | 0.9900 |
| 7:30355727:G:GG | acceptor_gain | 0.9900 |
| 7:30355727:GA:G | acceptor_gain | 0.9900 |
| 7:30355727:GAGG:G | acceptor_gain | 0.9900 |
| 7:30366051:AAGAT:A | acceptor_gain | 0.9900 |
| 7:30284475:G:GG | donor_gain | 0.9800 |
| 7:30355834:G:GG | donor_gain | 0.9800 |
AlphaMissense
1555 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:30323650:T:A | C160S | 1.000 |
| 7:30323650:T:C | C160R | 1.000 |
| 7:30323651:G:A | C160Y | 1.000 |
| 7:30323651:G:C | C160S | 1.000 |
| 7:30323652:C:G | C160W | 1.000 |
| 7:30323659:T:A | C163S | 1.000 |
| 7:30323659:T:C | C163R | 1.000 |
| 7:30323660:G:A | C163Y | 1.000 |
| 7:30323660:G:C | C163S | 1.000 |
| 7:30323661:C:G | C163W | 1.000 |
| 7:30323695:C:G | H175D | 1.000 |
| 7:30323707:T:A | C179S | 1.000 |
| 7:30323707:T:C | C179R | 1.000 |
| 7:30323708:G:A | C179Y | 1.000 |
| 7:30323708:G:C | C179S | 1.000 |
| 7:30323708:G:T | C179F | 1.000 |
| 7:30323709:T:G | C179W | 1.000 |
| 7:30323731:T:C | Y187H | 1.000 |
| 7:30323731:T:G | Y187D | 1.000 |
| 7:30355757:T:A | C199S | 1.000 |
| 7:30355757:T:C | C199R | 1.000 |
| 7:30355758:G:A | C199Y | 1.000 |
| 7:30355758:G:C | C199S | 1.000 |
| 7:30355758:G:T | C199F | 1.000 |
| 7:30355759:T:G | C199W | 1.000 |
| 7:30355764:T:A | I201K | 1.000 |
| 7:30355764:T:C | I201T | 1.000 |
| 7:30355764:T:G | I201R | 1.000 |
| 7:30355766:T:A | C202S | 1.000 |
| 7:30355766:T:C | C202R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000044239 (7:30304966 T>C), RS1000069194 (7:30338993 G>A), RS1000113953 (7:30283481 G>A), RS1000143331 (7:30352421 C>A,T), RS1000198576 (7:30364549 T>G), RS1000238009 (7:30358840 G>T), RS1000251574 (7:30339535 G>T), RS1000254714 (7:30321166 C>G,T), RS1000274692 (7:30283072 A>G), RS1000305971 (7:30289641 A>C), RS1000334819 (7:30309232 T>G), RS1000344918 (7:30345289 A>G), RS1000363929 (7:30333365 T>A), RS1000396511 (7:30333689 T>C,G), RS1000450291 (7:30352194 G>A,C,T)
Disease associations
OMIM: gene MIM:612061 | 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 |
|---|---|---|
| GCST002936_26 | Cadmium levels | 1.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases methylation, increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases methylation | 1 |
| urushiol | increases expression | 1 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Bortezomib | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Tretinoin | increases expression | 1 |
| Vincristine | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Asbestos, Serpentine | increases methylation | 1 |
| Antirheumatic Agents | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D8DK | Ubigene A-549 ZNRF2 KO | Cancer cell line | Male |
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.