NDRG3
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Summary
NDRG3 (NDRG family member 3, HGNC:14462) is a protein-coding gene on chromosome 20q11.23, encoding Protein NDRG3 (Q9UGV2).
Predicted to be involved in decidualization and signal transduction. Located in cytoplasm.
Source: NCBI Gene 57446 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 56 total
- MANE Select transcript:
NM_032013
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14462 |
| Approved symbol | NDRG3 |
| Name | NDRG family member 3 |
| Location | 20q11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000101079 |
| Ensembl biotype | protein_coding |
| OMIM | 605273 |
| Entrez | 57446 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 22 protein_coding
ENST00000349004, ENST00000359675, ENST00000373773, ENST00000373803, ENST00000422536, ENST00000855484, ENST00000855485, ENST00000855486, ENST00000855487, ENST00000855488, ENST00000930944, ENST00000930945, ENST00000930946, ENST00000930947, ENST00000930948, ENST00000956892, ENST00000956893, ENST00000956894, ENST00000956895, ENST00000956896, ENST00000956897, ENST00000956898
RefSeq mRNA: 2 — MANE Select: NM_032013
NM_022477, NM_032013
CCDS: CCDS13284, CCDS13285
Canonical transcript exons
ENST00000349004 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000800448 | 36688679 | 36688784 |
| ENSE00001036806 | 36746045 | 36746090 |
| ENSE00001036809 | 36682518 | 36682578 |
| ENSE00001200217 | 36684413 | 36684475 |
| ENSE00001200222 | 36687492 | 36687612 |
| ENSE00003049944 | 36666289 | 36666392 |
| ENSE00003097403 | 36656497 | 36656532 |
| ENSE00003116234 | 36665046 | 36665097 |
| ENSE00003118335 | 36660337 | 36660384 |
| ENSE00003127792 | 36665236 | 36665301 |
| ENSE00003134873 | 36680816 | 36680902 |
| ENSE00003225014 | 36656360 | 36656411 |
| ENSE00003518535 | 36721679 | 36721783 |
| ENSE00003541946 | 36706972 | 36707007 |
| ENSE00003785535 | 36671341 | 36671397 |
| ENSE00003848791 | 36651771 | 36653701 |
Expression profiles
Bgee: expression breadth ubiquitous, 286 present calls, max score 99.38.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.0846 / max 453.0425, expressed in 1763 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 187138 | 14.3884 | 1743 |
| 187139 | 1.5798 | 1060 |
| 187135 | 0.0675 | 3 |
| 187133 | 0.0186 | 3 |
| 187136 | 0.0146 | 3 |
| 187134 | 0.0095 | 3 |
| 187137 | 0.0062 | 3 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar vermis | UBERON:0004720 | 99.38 | gold quality |
| pons | UBERON:0000988 | 99.10 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 98.41 | gold quality |
| cerebellum | UBERON:0002037 | 98.22 | gold quality |
| cerebellar cortex | UBERON:0002129 | 98.19 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.17 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 98.15 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 98.15 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.93 | gold quality |
| parietal lobe | UBERON:0001872 | 97.87 | gold quality |
| postcentral gyrus | UBERON:0002581 | 97.77 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 97.77 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.76 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 97.67 | gold quality |
| occipital lobe | UBERON:0002021 | 97.65 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 97.65 | gold quality |
| frontal cortex | UBERON:0001870 | 97.41 | gold quality |
| primary visual cortex | UBERON:0002436 | 97.41 | gold quality |
| ventral tegmental area | UBERON:0002691 | 97.33 | gold quality |
| endothelial cell | CL:0000115 | 97.28 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 97.26 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 97.10 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 97.10 | gold quality |
| medulla oblongata | UBERON:0001896 | 97.08 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 97.08 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 97.06 | gold quality |
| entorhinal cortex | UBERON:0002728 | 97.04 | gold quality |
| neocortex | UBERON:0001950 | 96.93 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 96.82 | gold quality |
| right frontal lobe | UBERON:0002810 | 96.79 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.06 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
106 targeting NDRG3, 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-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
Literature-anchored findings (GeneRIF, showing 19)
- Cloning and expression of the gene; highly expressed in brain and testis (PMID:11936845)
- NDRG3 is a tumor promoter, the overexpression of which may contribute to the malignant phenotype of tumors (PMID:18975380)
- miR-122 plays an important role in HBV-related hepatocarcinogenesis by targeting NDRG3. (PMID:21725618)
- summarizes the current research on NDRG3 and NDRG4,including the molecular structure, cellular and tissue distribution, biological function,and function in cancer. (PMID:23725756)
- the aberrant expression of NDRG2 and NDRG3 may contribute to the malignant progression of prostate cancer (PMID:24222185)
- We identified a lactate-dependent signaling pathway in hypoxia, mediated by the oxygen- and lactate-regulated protein NDRG family member 3 (NDRG3). (PMID:25936780)
- above findings suggested that NDRG3 may be identified as a novel biomarker predicting the prognosis of laryngeal squamous cell carcinoma (PMID:27780595)
- increased NDRG3 expression is associated with hepatocellular carcinoma and drug resistance. (PMID:28269758)
- the expression of NDRG3 had significant impact on survival, with NDRG3 downregulated patients having the worst event-free survival rate among others. (PMID:28326836)
- Hypoxic postconditioning attenuates apoptosis via inactivation of adenosine A2a receptor through NDRG3-Raf-ERK pathway. (PMID:28743501)
- The IHC data demonstrated that the NDRG3 expression was significantly correlated with pathological grade (p= 0.038), N (p= 0.020) and TNM stage (p= 0.002) in non-small cell lung cancer. (PMID:29171988)
- NDRG3 may have an anti-metastatic function in prostate cancer under a hypoxic microenvironment. (PMID:29760417)
- The results revealed that compared with non-tumor tissues, hepatocellular carcinoma tissues showed significantly higher NDRG3 expression. (PMID:30413609)
- high NDRG3 expression facilitates HCC metastasis via regulating the turnover of beta-catenin, as well as provides a potential therapeutic target for future therapeutic interventions (PMID:31072445)
- Structural and Biophysical Analyses of Human N-Myc Downstream-Regulated Gene 3 (NDRG3) Protein. (PMID:31935861)
- High expression of NDRG3 correlates with poor prognosis in gastric cancer patients. (PMID:33562989)
- The LINC01410/miR-122-5p/NDRG3 axis is involved in the proliferation and migration of osteosarcoma cells. (PMID:33583123)
- Lactate promotes neuronal differentiation of SH-SY5Y cells by lactate-responsive gene sets through NDRG3-dependent and -independent manners. (PMID:37172727)
- NDRG3 regulates imatinib resistance by promoting beta-catenin accumulation in the nucleus in chronic myelogenous leukemia. (PMID:37350410)
Cross-species orthologs
10 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ndrg3b | ENSDARG00000010052 |
| danio_rerio | ndrg3a | ENSDARG00000013087 |
| mus_musculus | Ndrg3 | ENSMUSG00000027634 |
| rattus_norvegicus | LOC120101770 | ENSRNOG00000036813 |
| rattus_norvegicus | ENSRNOG00000078841 | |
| rattus_norvegicus | ENSRNOG00000085471 | |
| drosophila_melanogaster | CG2082 | FBGN0027608 |
| drosophila_melanogaster | MESK2 | FBGN0043070 |
| caenorhabditis_elegans | Y48G10A.3 | WBGENE00013020 |
| caenorhabditis_elegans | WBGENE00014213 |
Paralogs (3): NDRG4 (ENSG00000103034), NDRG1 (ENSG00000104419), NDRG2 (ENSG00000165795)
Protein
Protein identifiers
Protein NDRG3 — Q9UGV2 (reviewed: Q9UGV2)
Alternative names: N-myc downstream-regulated gene 3 protein
All UniProt accessions (4): Q9UGV2, F8WBF9, Q5TH29, Q5TH30
UniProt curated annotations — full annotation on UniProt →
Tissue specificity. Ubiquitous. Highly expressed in brain.
Similarity. Belongs to the NDRG family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UGV2-1 | 1 | yes |
| Q9UGV2-2 | 2 | |
| Q9UGV2-3 | 3 |
RefSeq proteins (2): NP_071922, NP_114402* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004142 | NDRG | Family |
| IPR029058 | AB_hydrolase_fold | Homologous_superfamily |
Pfam: PF03096
UniProt features (49 total): modified residue 13, helix 12, strand 11, compositionally biased region 3, sequence conflict 3, turn 3, splice variant 2, chain 1, region of interest 1
Structure
Experimental structures (PDB)
6 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6L4B | X-RAY DIFFRACTION | 2.2 |
| 9KCL | ELECTRON MICROSCOPY | 2.9 |
| 9KCM | ELECTRON MICROSCOPY | 2.9 |
| 9KCR | ELECTRON MICROSCOPY | 3.2 |
| 6L4G | X-RAY DIFFRACTION | 3.3 |
| 6L4H | X-RAY DIFFRACTION | 3.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UGV2-F1 | 81.31 | 0.63 |
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 (13): 334, 335, 338, 341, 352, 355, 361, 374, 1, 322, 329, 331, 332
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 191 (showing top):
GCM_PTPRD, GOBP_NEGATIVE_REGULATION_OF_CELL_GROWTH, GOBP_GROWTH, GOBP_MALE_GAMETE_GENERATION, YY1_Q6, PATIL_LIVER_CANCER, CATTTCA_MIR203, YY1_02, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, chr20q11, BIDUS_METASTASIS_UP, TTTNNANAGCYR_UNKNOWN, NFE2_01, GOBP_CELL_GROWTH, GCM_PTK2
GO Biological Process (4): signal transduction (GO:0007165), spermatogenesis (GO:0007283), cell differentiation (GO:0030154), negative regulation of cell growth (GO:0030308)
GO Molecular Function (0):
GO Cellular Component (2): cytoplasm (GO:0005737), extracellular exosome (GO:0070062)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| cellular developmental process | 1 |
| regulation of cell growth | 1 |
| cell growth | 1 |
| negative regulation of growth | 1 |
| negative regulation of cellular process | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
698 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NDRG3 | STK38L | Q9Y2H1 | 922 |
| NDRG3 | MYCN | P04198 | 798 |
| NDRG3 | RAF1 | P04049 | 615 |
| NDRG3 | EGLN1 | Q9GZT9 | 550 |
| NDRG3 | CCNG1 | P51959 | 545 |
| NDRG3 | HDHD3 | Q9BSH5 | 458 |
| NDRG3 | NOCT | Q9UK39 | 445 |
| NDRG3 | TAF4 | O00268 | 419 |
| NDRG3 | NPEPPS | P55786 | 398 |
| NDRG3 | MAPRE1 | Q15691 | 395 |
| NDRG3 | KLK6 | Q92876 | 389 |
| NDRG3 | TRPC4AP | Q8TEL6 | 388 |
| NDRG3 | KLK1 | P06870 | 388 |
| NDRG3 | EDEM2 | Q9BV94 | 387 |
| NDRG3 | PPP2R2A | P50409 | 377 |
IntAct
25 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ATP1B1 | ATP1A1 | psi-mi:“MI:0914”(association) | 0.910 |
| TUSC3 | RPN2 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| PICK1 | ILVBL | psi-mi:“MI:0914”(association) | 0.530 |
| ATP1A3 | AGPAT2 | psi-mi:“MI:0914”(association) | 0.530 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| ATP1A3 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| FXYD3 | TNPO2 | psi-mi:“MI:0914”(association) | 0.350 |
| ATP1B1 | TM9SF1 | psi-mi:“MI:0914”(association) | 0.350 |
| TMC4 | MARCHF6 | psi-mi:“MI:0914”(association) | 0.350 |
| FXYD1 | SPINK4 | psi-mi:“MI:0914”(association) | 0.350 |
| TLCD5 | TOM1L1 | psi-mi:“MI:0914”(association) | 0.350 |
| ATP1B3 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| ATP1A3 | EI24 | psi-mi:“MI:0914”(association) | 0.350 |
| DDX28 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| LGALS3 | SDCBP | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL49 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| OAS1 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| VENTX | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| KRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| HRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| NDRG3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (50): NDRG3 (Affinity Capture-MS), CSTF1 (Co-fractionation), NDRG3 (Co-fractionation), NPEPL1 (Co-fractionation), TARDBP (Co-fractionation), NDRG3 (Affinity Capture-MS), NDRG3 (Affinity Capture-MS), NDRG3 (Affinity Capture-MS), NDRG3 (Affinity Capture-RNA), RABAC1 (Affinity Capture-Western), NDRG3 (Proximity Label-MS), NDRG3 (Proximity Label-MS), NDRG3 (Proximity Label-MS), NDRG3 (Proximity Label-MS), NDRG3 (Proximity Label-MS)
ESM2 similar proteins: A2VE08, A7Y521, E1C6Q1, O15131, O35116, O35142, O35345, O55029, O60684, O70133, O88544, O94973, P17427, P18484, P26233, P35605, P35606, P52294, P52297, P70188, P83953, Q08211, Q0V7M0, Q0VCK5, Q13098, Q28141, Q3SZA0, Q4R5E6, Q503E9, Q56R16, Q5F418, Q5R648, Q5R664, Q5R874, Q5R909, Q5RBV0, Q5ZHN3, Q5ZML1, Q60960, Q68FK8
Diamond homologs: A0A126P745, A1A9R4, A1JMX1, A4VQH7, A4W922, A6T799, A7MB28, A7MFY0, A7ZKB4, A7ZYW4, A8GCT3, A8IAD8, A9W3H8, B0SW62, B1IV88, B1LIZ6, B1M5I5, B1X9D0, B1ZB18, B5XXN3, B5YU51, B6I985, B7KWT4, B7LFB9, B7M8Z4, B7MIF6, B7MTF2, B7N3G5, B7NLB7, B7UNZ2, B8H1Q3, B9JLT6, C4ZQD7, C5B0U6, C5CN82, C6EHJ8, C6UFC0, C6UPN1, C7CM33, C8TNB9
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 33 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 |
|---|---|---|---|
| Ion transport by P-type ATPases | 6 | 54.2× | 1e-07 |
| Ion homeostasis | 6 | 53.2× | 1e-07 |
| Potential therapeutics for SARS | 6 | 29.8× | 1e-06 |
| SARS-CoV Infections | 5 | 12.1× | 2e-04 |
| Viral Infection Pathways | 5 | 6.7× | 2e-03 |
| Infectious disease | 5 | 5.4× | 5e-03 |
| Neutrophil degranulation | 5 | 5.0× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
56 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 41 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2263 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:36653697:TGGTA:T | acceptor_gain | 1.0000 |
| 20:36653702:C:CC | acceptor_gain | 1.0000 |
| 20:36656493:TTAC:T | donor_loss | 1.0000 |
| 20:36656494:TA:T | donor_loss | 1.0000 |
| 20:36656495:A:C | donor_loss | 1.0000 |
| 20:36665234:A:AC | donor_gain | 1.0000 |
| 20:36665235:C:CC | donor_gain | 1.0000 |
| 20:36666284:TATA:T | donor_loss | 1.0000 |
| 20:36666285:ATAC:A | donor_gain | 1.0000 |
| 20:36666286:TACCC:T | donor_loss | 1.0000 |
| 20:36666287:A:AC | donor_gain | 1.0000 |
| 20:36666287:A:AT | donor_loss | 1.0000 |
| 20:36666287:AC:A | donor_gain | 1.0000 |
| 20:36666288:C:A | donor_loss | 1.0000 |
| 20:36666288:C:CC | donor_gain | 1.0000 |
| 20:36666288:CC:C | donor_gain | 1.0000 |
| 20:36666291:A:AC | donor_gain | 1.0000 |
| 20:36666389:CTTC:C | acceptor_gain | 1.0000 |
| 20:36666390:TTC:T | acceptor_gain | 1.0000 |
| 20:36666390:TTCC:T | acceptor_loss | 1.0000 |
| 20:36666391:TC:T | acceptor_gain | 1.0000 |
| 20:36666392:CC:C | acceptor_gain | 1.0000 |
| 20:36666393:C:CA | acceptor_loss | 1.0000 |
| 20:36666393:C:CC | acceptor_gain | 1.0000 |
| 20:36666399:C:CT | acceptor_gain | 1.0000 |
| 20:36666402:T:TC | acceptor_gain | 1.0000 |
| 20:36671336:CTTA:C | donor_loss | 1.0000 |
| 20:36671337:TTA:T | donor_loss | 1.0000 |
| 20:36671338:TA:T | donor_loss | 1.0000 |
| 20:36671339:ACCTG:A | donor_gain | 1.0000 |
AlphaMissense
2474 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:36665075:C:A | G261W | 1.000 |
| 20:36656372:C:G | G312R | 0.999 |
| 20:36656372:C:T | G312R | 0.999 |
| 20:36656384:A:G | Y308H | 0.999 |
| 20:36656510:G:C | P294R | 0.999 |
| 20:36656510:G:T | P294H | 0.999 |
| 20:36660341:A:G | L285P | 0.999 |
| 20:36660365:A:G | L277P | 0.999 |
| 20:36665074:C:A | G261V | 0.999 |
| 20:36665074:C:T | G261E | 0.999 |
| 20:36665075:C:G | G261R | 0.999 |
| 20:36665075:C:T | G261R | 0.999 |
| 20:36665083:A:G | L258P | 0.999 |
| 20:36680874:A:G | L158P | 0.999 |
| 20:36682543:C:T | G140E | 0.999 |
| 20:36682555:C:T | G136E | 0.999 |
| 20:36687531:G:T | A94D | 0.999 |
| 20:36688684:A:G | L65P | 0.999 |
| 20:36688687:C:T | G64D | 0.999 |
| 20:36688688:C:G | G64R | 0.999 |
| 20:36688693:T:A | D62V | 0.999 |
| 20:36688702:G:T | T59K | 0.999 |
| 20:36688708:A:T | I57K | 0.999 |
| 20:36688747:A:T | V44D | 0.999 |
| 20:36656371:C:T | G312E | 0.998 |
| 20:36656384:A:C | Y308D | 0.998 |
| 20:36656385:C:A | K307N | 0.998 |
| 20:36656385:C:G | K307N | 0.998 |
| 20:36656401:A:G | L302P | 0.998 |
| 20:36660337:C:A | K286N | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000052300 (20:36699353 A>G), RS1000059160 (20:36747158 G>A), RS1000077093 (20:36654132 A>G), RS1000096508 (20:36697854 T>C), RS1000107424 (20:36739963 A>G), RS1000109914 (20:36693736 G>A,C), RS1000124106 (20:36723048 C>G), RS1000182212 (20:36726608 G>A), RS1000224080 (20:36661090 G>C), RS1000265738 (20:36698992 A>G), RS1000292291 (20:36719715 G>A), RS1000352807 (20:36713443 G>C), RS1000390567 (20:36704388 C>G,T), RS1000401425 (20:36712979 T>C), RS1000466644 (20:36660660 A>C)
Disease associations
OMIM: gene MIM:605273 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 3 |
| Cyclosporine | decreases expression | 3 |
| Cadmium Chloride | increases abundance, increases expression, decreases expression | 3 |
| sodium arsenite | increases abundance, decreases expression, affects cotreatment | 2 |
| Cisplatin | affects cotreatment, increases expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| beta-lapachone | decreases expression | 1 |
| sulforaphane | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| coumarin | increases phosphorylation | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | increases expression, affects cotreatment | 1 |
| Bortezomib | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | decreases methylation, affects cotreatment | 1 |
| Vorinostat | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Air Pollutants, Occupational | affects expression | 1 |
| Arsenic | decreases expression, increases abundance, affects cotreatment | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.