HMGN3
gene geneOn this page
Summary
HMGN3 (high mobility group nucleosomal binding domain 3, HGNC:12312) is a protein-coding gene on chromosome 6q14.1, encoding High mobility group nucleosome-binding domain-containing protein 3 (Q15651). Binds to nucleosomes, regulating chromatin structure and consequently, chromatin-dependent processes such as transcription, DNA replication and DNA repair.
The protein encoded by this gene binds thyroid hormone receptor beta in the presence of thyroid hormone. The encoded protein, a member of the HMGN protein family, is thought to reduce the compactness of the chromatin fiber in nucleosomes, thereby enhancing transcription from chromatin templates. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. There is a related pseudogene on chromosome 1.
Source: NCBI Gene 9324 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 27 total
- MANE Select transcript:
NM_001201363
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12312 |
| Approved symbol | HMGN3 |
| Name | high mobility group nucleosomal binding domain 3 |
| Location | 6q14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000118418 |
| Ensembl biotype | protein_coding |
| OMIM | 604502 |
| Entrez | 9324 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 21 protein_coding
ENST00000275036, ENST00000344726, ENST00000620514, ENST00000703810, ENST00000706657, ENST00000706659, ENST00000706660, ENST00000895450, ENST00000895451, ENST00000895452, ENST00000895453, ENST00000895454, ENST00000895455, ENST00000913853, ENST00000913854, ENST00000913855, ENST00000913856, ENST00000913857, ENST00000913858, ENST00000913859, ENST00000957643
RefSeq mRNA: 9 — MANE Select: NM_001201363
NM_001201362, NM_001201363, NM_001318884, NM_001318885, NM_001318886, NM_001318887, NM_001318888, NM_004242, NM_138730
CCDS: CCDS4988, CCDS4989, CCDS75485, CCDS93952
Canonical transcript exons
ENST00000620514 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000798002 | 79202276 | 79202389 |
| ENSE00000798003 | 79203580 | 79203630 |
| ENSE00000798004 | 79214972 | 79215022 |
| ENSE00000999529 | 79208547 | 79208576 |
| ENSE00000999530 | 79234546 | 79234682 |
| ENSE00003475399 | 79201245 | 79201726 |
| ENSE00003723579 | 79202063 | 79202155 |
Expression profiles
Bgee: expression breadth ubiquitous, 301 present calls, max score 99.83.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 81.7367 / max 1047.5441, expressed in 1801 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 74504 | 81.7367 | 1801 |
Top tissues by expression
302 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| bronchial epithelial cell | CL:0002328 | 99.83 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 99.72 | gold quality |
| bronchus | UBERON:0002185 | 99.67 | gold quality |
| endothelial cell | CL:0000115 | 99.65 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 99.61 | gold quality |
| right uterine tube | UBERON:0001302 | 99.53 | gold quality |
| eye | UBERON:0000970 | 99.50 | gold quality |
| parietal pleura | UBERON:0002400 | 99.49 | gold quality |
| ventricular zone | UBERON:0003053 | 99.42 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 99.42 | gold quality |
| pleura | UBERON:0000977 | 99.40 | gold quality |
| visceral pleura | UBERON:0002401 | 99.36 | gold quality |
| hair follicle | UBERON:0002073 | 99.34 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 99.33 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 99.32 | gold quality |
| nasopharynx | UBERON:0001728 | 99.30 | gold quality |
| renal glomerulus | UBERON:0000074 | 99.28 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 99.25 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 99.25 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 99.21 | gold quality |
| retina | UBERON:0000966 | 99.18 | gold quality |
| metanephros | UBERON:0000081 | 99.17 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 99.11 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 99.11 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 99.11 | gold quality |
| skin of hip | UBERON:0001554 | 99.08 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 99.07 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 99.04 | gold quality |
| cranial nerve II | UBERON:0000941 | 99.01 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.99 | gold quality |
Single-cell (SCXA)
Detected in 15 experiment(s), a significant marker in 13.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6701 | yes | 117.08 |
| E-HCAD-5 | yes | 61.01 |
| E-MTAB-7316 | yes | 35.21 |
| E-HCAD-1 | yes | 32.32 |
| E-MTAB-10287 | yes | 25.25 |
| E-HCAD-10 | yes | 17.90 |
| E-MTAB-6678 | yes | 17.05 |
| E-GEOD-93593 | yes | 14.16 |
| E-GEOD-130148 | yes | 12.83 |
| E-CURD-46 | yes | 12.03 |
| E-MTAB-10042 | yes | 10.81 |
| E-GEOD-125970 | yes | 7.32 |
| E-GEOD-75140 | no | 555.59 |
| E-HCAD-31 | no | 4.57 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ARX, EBF3, EGR1, ETS2
miRNA regulators (miRDB)
63 targeting HMGN3, 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-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-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-498-3P | 99.91 | 71.27 | 1114 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-1179 | 99.71 | 68.70 | 1040 |
| HSA-MIR-3158-5P | 99.65 | 67.51 | 1763 |
| HSA-MIR-497-3P | 99.61 | 69.71 | 1990 |
| HSA-MIR-325 | 99.58 | 66.55 | 358 |
| HSA-MIR-217-5P | 99.49 | 69.93 | 1419 |
| HSA-MIR-5009-3P | 99.45 | 69.43 | 1341 |
Literature-anchored findings (GeneRIF, showing 4)
- loss of HMGN3 impairs glucose-stimulated insulin secretion and leads to a diabetic phenotype. (PMID:19651901)
- The SNPs in the region of HMGN3 gene formed a tightly combined haplotype block in both Chinese and Caucasians. The results suggest that the genomic region containing HMGN3 gene may be associated with spine BS in Chinese. (PMID:21947420)
- HMGN3 represses transcription of epithelial regulators to promote migration of cholangiocarcinoma in a SNAI2-dependent manner. (PMID:35635715)
- WTAP dysregulation-mediated HMGN3-m6A modification inhibited trophoblast invasion in early-onset preeclampsia. (PMID:36412513)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | hmgn6 | ENSDARG00000087636 |
| mus_musculus | Hmgn3 | ENSMUSG00000066456 |
| rattus_norvegicus | ENSRNOG00000073426 |
Paralogs (3): HMGN4 (ENSG00000182952), HMGN2 (ENSG00000198830), HMGN1 (ENSG00000205581)
Protein
Protein identifiers
High mobility group nucleosome-binding domain-containing protein 3 — Q15651 (reviewed: Q15651)
Alternative names: Thyroid receptor-interacting protein 7
All UniProt accessions (6): Q15651, A0A087WZE9, A0A994J3W4, A0A9L9PXC9, A0A9L9PXD4, A0A9L9PY81
UniProt curated annotations — full annotation on UniProt →
Function. Binds to nucleosomes, regulating chromatin structure and consequently, chromatin-dependent processes such as transcription, DNA replication and DNA repair. Affects both insulin and glucagon levels and modulates the expression of pancreatic genes involved in insulin secretion. Regulates the expression of the glucose transporter SLC2A2 by binding specifically to its promoter region and recruiting PDX1 and additional transcription factors. Regulates the expression of SLC6A9, a glycine transporter which regulates the glycine concentration in synaptic junctions in the central nervous system, by binding to its transcription start site. May play a role in ocular development and astrocyte function.
Subunit / interactions. Interacts with the ligand binding domain of the thyroid receptor (TR) (in vitro). Requires the presence of thyroid hormone for its interaction. Interacts with transcriptional regulator SEHBP. Interacts with nucleosomes.
Subcellular location. Nucleus.
Tissue specificity. Expressed in kidney, lung, pancreas, testis, skeletal muscle, heart, thyroid gland, pituitary gland, prostate and uterus. Low expression in liver, spleen, placenta and ovaries.
Induction. By estrogen.
Similarity. Belongs to the HMGN family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q15651-1 | 1, HMGN3a | yes |
| Q15651-2 | 2, HMGN3b |
RefSeq proteins (9): NP_001188291, NP_001188292, NP_001305813, NP_001305814, NP_001305815, NP_001305816, NP_001305817, NP_004233, NP_620058 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000079 | HMGN_fam | Family |
Pfam: PF01101
UniProt features (12 total): compositionally biased region 4, modified residue 4, splice variant 2, chain 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q15651-F1 | 65.46 | 0.00 |
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): 6, 10, 78, 93
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 273 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, RNGTGGGC_UNKNOWN, EFC_Q6, PUJANA_CHEK2_PCC_NETWORK, OUELLET_OVARIAN_CANCER_INVASIVE_VS_LMP_UP, BILD_HRAS_ONCOGENIC_SIGNATURE, FOSTER_TOLERANT_MACROPHAGE_UP, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, MODULE_301, HFH8_01, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, COATES_MACROPHAGE_M1_VS_M2_UP, SCHAEFFER_SOX9_TARGETS_IN_PROSTATE_DEVELOPMENT_UP, SCHLOSSER_SERUM_RESPONSE_DN
GO Biological Process (5): chromatin organization (GO:0006325), regulation of transcription by RNA polymerase II (GO:0006357), transcription by RNA polymerase II (GO:0006366), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)
GO Molecular Function (5): chromatin binding (GO:0003682), nucleosomal DNA binding (GO:0031492), nuclear thyroid hormone receptor binding (GO:0046966), DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| transcription by RNA polymerase II | 2 |
| binding | 2 |
| cellular component organization | 1 |
| regulation of DNA-templated transcription | 1 |
| DNA-templated transcription | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| insulin secretion involved in cellular response to glucose stimulus | 1 |
| regulation of insulin secretion | 1 |
| regulation of cellular localization | 1 |
| chromatin DNA binding | 1 |
| nucleosome binding | 1 |
| nuclear receptor binding | 1 |
| nucleic acid binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
536 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HMGN3 | SLC6A9 | P48067 | 894 |
| HMGN3 | CCNT2 | O60583 | 773 |
| HMGN3 | THRB | P10828 | 726 |
| HMGN3 | HMGN5 | P82970 | 579 |
| HMGN3 | TXNRD2 | Q9NNW7 | 548 |
| HMGN3 | H1-0 | P07305 | 506 |
| HMGN3 | SLC6A5 | Q9Y345 | 497 |
| HMGN3 | AHCTF1 | Q8WYP5 | 478 |
| HMGN3 | RXRA | P19793 | 462 |
| HMGN3 | HSPB3 | Q12988 | 428 |
| HMGN3 | SRY | Q05066 | 428 |
| HMGN3 | H4C16 | P02304 | 416 |
| HMGN3 | ZBTB8B | Q8NAP8 | 404 |
| HMGN3 | NR3C1 | P04150 | 383 |
| HMGN3 | ZBTB16 | Q05516 | 362 |
IntAct
26 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SRPK2 | HMGN3 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| SRPK1 | HMGN3 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| GRB2 | HMGN3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| STUB1 | HMGN3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CCDC185 | HMGN3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| S100A10 | HMGN3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| H2BC12L | HMGN3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| H2BC9 | HMGN3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PRRC2C | HMGN3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HMGN3 | ANXA2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MYO9B | HMGN3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| AHCTF1 | HMGN3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZC3H4 | HMGN3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HMGN3 | TERF1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HMGN3 | TERF2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HMGN3 | TERF2IP | psi-mi:“MI:0915”(physical association) | 0.370 |
| Csnk1d | WWP2 | psi-mi:“MI:0914”(association) | 0.350 |
| APP | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| RAB5A | PSMD14 | psi-mi:“MI:0914”(association) | 0.350 |
| ACKR3 | PDE2A | psi-mi:“MI:0914”(association) | 0.350 |
| SLC25A21 | HMGN3 | psi-mi:“MI:0914”(association) | 0.350 |
| EBAG9 | psi-mi:“MI:0914”(association) | 0.350 | |
| NIN | ARPC3 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SMAD2 | HMGN3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| HMGN3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (69): HMGN3 (Proximity Label-MS), HMGN3 (Affinity Capture-MS), HMGN3 (Affinity Capture-MS), HMGN3 (Affinity Capture-MS), ZC3H4 (Proximity Label-MS), HMGN3 (Proximity Label-MS), CCDC185 (Proximity Label-MS), STUB1 (Proximity Label-MS), HMGN3 (Proximity Label-MS), HMGN3 (Proximity Label-MS), PRRC2C (Proximity Label-MS), HMGN3 (Proximity Label-MS), AHCTF1 (Proximity Label-MS), HIST1H2BH (Proximity Label-MS), HMGN3 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GTR3, O00479, O14598, P02313, P02314, P02315, P02316, P05114, P05204, P09602, P0DPH9, P10156, P12274, P12902, P18437, P18608, P22058, P49342, P80272, Q04504, Q15651, Q29026, Q2YDK4, Q32N87, Q32PF3, Q3ZBV4, Q4VC05, Q5FVI4, Q5R715, Q5RAA0, Q5RCI9, Q5XXA9, Q5ZIR5, Q5ZM33, Q66H40, Q6P8I4, Q711A6, Q80XU3, Q8C551, Q8N111
Diamond homologs: O00479, P02313, P02314, P05204, P09602, P12902, P18437, P80272, Q15651, Q2YDK4, Q3ZBV4, Q5R715, Q5RAA0, Q66H40, Q711A6, Q9DCB1, P02316, P05114, P12274, P18608, P82970, Q5ZIR5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 29 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 |
|---|---|---|---|
| Packaging Of Telomere Ends | 5 | 43.9× | 2e-05 |
| Recognition and association of DNA glycosylase with site containing an affected purine | 5 | 40.8× | 2e-05 |
| Cleavage of the damaged purine | 5 | 40.8× | 2e-05 |
| Recognition and association of DNA glycosylase with site containing an affected pyrimidine | 5 | 36.8× | 2e-05 |
| Cleavage of the damaged pyrimidine | 5 | 36.8× | 2e-05 |
| Inhibition of DNA recombination at telomere | 5 | 33.6× | 2e-05 |
| DNA Damage/Telomere Stress Induced Senescence | 5 | 32.6× | 2e-05 |
| Meiotic synapsis | 5 | 28.2× | 3e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
27 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 14 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
978 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:79202386:CTTT:C | acceptor_gain | 1.0000 |
| 6:79202390:C:CC | acceptor_gain | 1.0000 |
| 6:79202402:C:CT | acceptor_gain | 1.0000 |
| 6:79202407:CACAG:C | acceptor_gain | 1.0000 |
| 6:79203574:TCTTA:T | donor_loss | 1.0000 |
| 6:79203575:CTTAC:C | donor_loss | 1.0000 |
| 6:79203576:TTACC:T | donor_loss | 1.0000 |
| 6:79203577:TA:T | donor_loss | 1.0000 |
| 6:79203578:A:AG | donor_loss | 1.0000 |
| 6:79214967:CTTA:C | donor_loss | 1.0000 |
| 6:79214968:TTA:T | donor_loss | 1.0000 |
| 6:79214969:TACCT:T | donor_loss | 1.0000 |
| 6:79214970:A:AC | donor_gain | 1.0000 |
| 6:79214970:A:AT | donor_loss | 1.0000 |
| 6:79214970:ACCT:A | donor_gain | 1.0000 |
| 6:79214970:ACCTC:A | donor_gain | 1.0000 |
| 6:79214971:C:CA | donor_loss | 1.0000 |
| 6:79214971:C:CC | donor_gain | 1.0000 |
| 6:79214971:CCT:C | donor_gain | 1.0000 |
| 6:79214971:CCTC:C | donor_gain | 1.0000 |
| 6:79214971:CCTCC:C | donor_gain | 1.0000 |
| 6:79215021:GA:G | acceptor_gain | 1.0000 |
| 6:79215023:C:CC | acceptor_gain | 1.0000 |
| 6:79234541:CTTA:C | donor_loss | 1.0000 |
| 6:79234542:TTACC:T | donor_loss | 1.0000 |
| 6:79234543:TA:T | donor_loss | 1.0000 |
| 6:79234544:A:AC | donor_gain | 1.0000 |
| 6:79234544:ACCTT:A | donor_loss | 1.0000 |
| 6:79234545:C:CC | donor_gain | 1.0000 |
| 6:79234545:C:CG | donor_loss | 1.0000 |
AlphaMissense
823 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:79208568:T:A | R25S | 0.989 |
| 6:79208568:T:G | R25S | 0.989 |
| 6:79208556:T:A | R29S | 0.983 |
| 6:79208556:T:G | R29S | 0.983 |
| 6:79234549:T:A | R4S | 0.983 |
| 6:79234549:T:G | R4S | 0.983 |
| 6:79208569:C:G | R25T | 0.975 |
| 6:79208554:A:G | L30S | 0.968 |
| 6:79208557:C:G | R29T | 0.965 |
| 6:79234550:C:G | R4T | 0.962 |
| 6:79208569:C:A | R25I | 0.959 |
| 6:79208558:T:C | R29G | 0.958 |
| 6:79208570:T:C | R25G | 0.946 |
| 6:79234550:C:A | R4I | 0.941 |
| 6:79208554:A:C | L30W | 0.933 |
| 6:79234552:C:A | K3N | 0.930 |
| 6:79234552:C:G | K3N | 0.930 |
| 6:79208557:C:A | R29I | 0.926 |
| 6:79208566:C:G | R26P | 0.914 |
| 6:79234546:C:A | K5N | 0.905 |
| 6:79234546:C:G | K5N | 0.905 |
| 6:79203601:T:A | K42N | 0.898 |
| 6:79203601:T:G | K42N | 0.898 |
| 6:79208563:G:A | S27F | 0.897 |
| 6:79208567:G:C | R26G | 0.893 |
| 6:79234556:G:A | P2L | 0.891 |
| 6:79234553:T:A | K3M | 0.886 |
| 6:79208566:C:A | R26L | 0.864 |
| 6:79208575:G:T | P23H | 0.864 |
| 6:79203628:T:A | K33N | 0.847 |
dbSNP variants (sampled 300 via entrez): RS1000067376 (6:79211033 A>T), RS1000081822 (6:79217807 T>C,G), RS1000138877 (6:79212378 A>T), RS1000175606 (6:79218000 T>C), RS1000295568 (6:79224046 T>C), RS1000397302 (6:79210593 G>A), RS1000414257 (6:79230071 A>G), RS1000420201 (6:79224824 G>T), RS1000438944 (6:79205443 A>G), RS1000486589 (6:79230378 T>A,C), RS1000487104 (6:79215806 A>G), RS1000489708 (6:79205671 G>T), RS1000518092 (6:79216144 G>C), RS1000597428 (6:79222277 T>C), RS1000746183 (6:79228759 G>A,T)
Disease associations
OMIM: gene MIM:604502 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002726_61 | Glucose homeostasis traits | 1.000000e-06 |
| GCST009614_2 | LDL cholesterol levels x loop diuretics use interaction | 4.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004471 | insulin sensitivity 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
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression, increases expression | 4 |
| sodium arsenite | decreases expression, increases expression | 3 |
| Air Pollutants | increases abundance, decreases expression, affects expression | 3 |
| Valproic Acid | affects expression, decreases methylation, increases expression | 3 |
| Cyclosporine | decreases expression | 3 |
| cobaltous chloride | decreases expression | 2 |
| Doxorubicin | increases expression, affects response to substance | 2 |
| Ozone | affects expression, increases abundance, decreases expression, increases oxidation | 2 |
| Quercetin | decreases expression | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| dimethylselenide | decreases expression, increases oxidation | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| methylparaben | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| epigallocatechin gallate | decreases expression, affects cotreatment | 1 |
| K 7174 | 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 |
| abrine | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
Cellosaurus cell lines
4 cell lines: 3 embryonic stem cell, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A2T8 | SEES3-1V human HMGN3, clone1 | Embryonic stem cell | Male |
| CVCL_A2T9 | SEES3-1V human HMGN3, clone2 | Embryonic stem cell | Male |
| CVCL_A2U0 | SEES3-1V human HMGN3, clone3 | Embryonic stem cell | Male |
| CVCL_B2YV | Abcam HEK293T HMGN3 KO | Transformed cell line | Female |
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.