HDGFL3
gene geneOn this page
Also known as HRP-3Hdgfrp3
Summary
HDGFL3 (HDGF like 3, HGNC:24937) is a protein-coding gene on chromosome 15q25.2, encoding Hepatoma-derived growth factor-related protein 3 (Q9Y3E1). Enhances DNA synthesis and may play a role in cell proliferation.
Predicted to enable microtubule binding activity. Predicted to be involved in microtubule polymerization; negative regulation of microtubule depolymerization; and neuron projection development. Located in nucleoplasm.
Source: NCBI Gene 50810 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 51 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_016073
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24937 |
| Approved symbol | HDGFL3 |
| Name | HDGF like 3 |
| Location | 15q25.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HRP-3, Hdgfrp3 |
| Ensembl gene | ENSG00000166503 |
| Ensembl biotype | protein_coding |
| OMIM | 616643 |
| Entrez | 50810 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 5 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000299633, ENST00000562702, ENST00000563404, ENST00000563790, ENST00000568129, ENST00000568294, ENST00000715404, ENST00000939084, ENST00000939085
RefSeq mRNA: 1 — MANE Select: NM_016073
NM_016073
CCDS: CCDS32314
Canonical transcript exons
ENST00000299633 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001159056 | 83127753 | 83139275 |
| ENSE00002622954 | 83207331 | 83207823 |
| ENSE00003466059 | 83151215 | 83151361 |
| ENSE00003545822 | 83157903 | 83158041 |
| ENSE00003606549 | 83157415 | 83157573 |
| ENSE00003607715 | 83163999 | 83164075 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 99.17.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.4763 / max 645.9126, expressed in 1680 samples.
FANTOM5 promoters (14 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 151311 | 13.6466 | 1607 |
| 151307 | 6.7518 | 1438 |
| 151313 | 4.4285 | 1318 |
| 151302 | 1.5208 | 538 |
| 151315 | 0.8645 | 388 |
| 151310 | 0.5857 | 393 |
| 151314 | 0.5147 | 284 |
| 151312 | 0.2887 | 126 |
| 207628 | 0.2542 | 91 |
| 151309 | 0.2510 | 89 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 99.17 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.67 | gold quality |
| calcaneal tendon | UBERON:0003701 | 98.29 | gold quality |
| embryo | UBERON:0000922 | 97.73 | gold quality |
| ventricular zone | UBERON:0003053 | 97.66 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.84 | gold quality |
| entorhinal cortex | UBERON:0002728 | 96.82 | gold quality |
| postcentral gyrus | UBERON:0002581 | 96.68 | gold quality |
| parietal lobe | UBERON:0001872 | 96.63 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 96.45 | gold quality |
| corpus epididymis | UBERON:0004359 | 96.39 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 96.32 | gold quality |
| endothelial cell | CL:0000115 | 96.31 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 96.24 | gold quality |
| cauda epididymis | UBERON:0004360 | 96.23 | gold quality |
| prefrontal cortex | UBERON:0000451 | 96.18 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 96.02 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 95.73 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 95.50 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 95.40 | gold quality |
| adult organism | UBERON:0007023 | 95.30 | gold quality |
| tendon | UBERON:0000043 | 95.29 | gold quality |
| temporal lobe | UBERON:0001871 | 95.23 | gold quality |
| amygdala | UBERON:0001876 | 95.01 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 94.98 | gold quality |
| medulla oblongata | UBERON:0001896 | 94.88 | gold quality |
| occipital lobe | UBERON:0002021 | 94.84 | gold quality |
| adrenal tissue | UBERON:0018303 | 94.75 | gold quality |
| Ammon’s horn | UBERON:0001954 | 94.71 | gold quality |
| hypothalamus | UBERON:0001898 | 94.68 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 15.34 |
| E-MTAB-9543 | yes | 12.07 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
127 targeting HDGFL3, 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-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| 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-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
Literature-anchored findings (GeneRIF, showing 9)
- LEDGF/p75 and HRP2 IBDs avidly bind HIV-1 Integrase, share a similar domain organization and have an evident evolutionary and likely functional relationship (PMID:15371438)
- Hepatoma-derived growth factor-related protein-3 interacts with microtubules and promotes neurite outgrowth in mouse cortical neurons (PMID:19237540)
- Depletion of HRP-3 induces apoptosis of radio- and chemoresistant A549 cells. HRP-3 is essential for regulating reactive oxygen species-dependent, p53-induced cell death. (PMID:24012673)
- Glucose deprivation-induced HRP-3 up-regulation potentially plays a major role in protecting hepatocellular carcinoma cells against apoptosis caused by energy pressure. (PMID:26823754)
- The study observed higher expression levels of HDGFRP3 and ID2 in bipolar disorder (BD) patients who favourably respond to lithium. Both of these genes are involved in neurogenesis, and HDGFRP3 has been suggested to be a neurotrophic factor. (PMID:28854847)
- HRP3 PWWP is a new family of minor groove-specific DNA-binding proteins (PMID:31162607)
- A novel function of HRP-3 in regulating cell cycle progression via the HDAC-E2F1-Cyclin E pathway in lung cancer. (PMID:34714604)
- HDGFRP3 interaction with 53BP1 promotes DNA double-strand break repair. (PMID:36794849)
- Bulk RNA-Seq Combined with Single-Cell Transcriptome Sequencing Reveals the Possible Mechanisms by Which HDGFL3 Involves in Prostate Cancer Growth and Metastasis. (PMID:37681334)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| ENSDARG00000101464 | ||
| mus_musculus | Hdgfl3 | ENSMUSG00000025104 |
| rattus_norvegicus | Hdgfl3 | ENSRNOG00000019740 |
Paralogs (4): HDGFL1 (ENSG00000112273), HDGF (ENSG00000143321), PSIP1 (ENSG00000164985), HDGFL2 (ENSG00000167674)
Protein
Protein identifiers
Hepatoma-derived growth factor-related protein 3 — Q9Y3E1 (reviewed: Q9Y3E1)
Alternative names: Hepatoma-derived growth factor 2
All UniProt accessions (3): Q9Y3E1, H3BPM9, H3BPQ6
UniProt curated annotations — full annotation on UniProt →
Function. Enhances DNA synthesis and may play a role in cell proliferation.
Subcellular location. Nucleus.
Tissue specificity. Detected in testis, heart, spinal cord and brain.
Similarity. Belongs to the HDGF family.
RefSeq proteins (1): NP_057157* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000313 | PWWP_dom | Domain |
Pfam: PF00855
UniProt features (24 total): strand 6, compositionally biased region 5, modified residue 4, helix 3, turn 2, chain 1, domain 1, region of interest 1, short sequence motif 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6IIP | X-RAY DIFFRACTION | 0.95 |
| 6IIQ | X-RAY DIFFRACTION | 1.85 |
| 6IIT | X-RAY DIFFRACTION | 2.1 |
| 6IIR | X-RAY DIFFRACTION | 2.2 |
| 6IIS | X-RAY DIFFRACTION | 2.36 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y3E1-F1 | 71.88 | 0.36 |
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): 121, 122, 162, 110
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 127 (showing top):
YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOZGIT_ESR1_TARGETS_DN, GOBP_NEUROGENESIS, GOMF_GROWTH_FACTOR_ACTIVITY, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_MICROTUBULE_DEPOLYMERIZATION, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_DISASSEMBLY, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_PROTEIN_DEPOLYMERIZATION, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_REGULATION_OF_MICROTUBULE_POLYMERIZATION_OR_DEPOLYMERIZATION
GO Biological Process (4): negative regulation of microtubule depolymerization (GO:0007026), neuron projection development (GO:0031175), microtubule polymerization (GO:0046785), signal transduction (GO:0007165)
GO Molecular Function (3): microtubule binding (GO:0008017), growth factor activity (GO:0008083), tubulin binding (GO:0015631)
GO Cellular Component (5): extracellular region (GO:0005576), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| microtubule depolymerization | 1 |
| negative regulation of microtubule polymerization or depolymerization | 1 |
| regulation of microtubule depolymerization | 1 |
| negative regulation of protein depolymerization | 1 |
| negative regulation of supramolecular fiber organization | 1 |
| neuron development | 1 |
| plasma membrane bounded cell projection organization | 1 |
| microtubule nucleation | 1 |
| microtubule polymerization or depolymerization | 1 |
| protein polymerization | 1 |
| supramolecular fiber organization | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| tubulin binding | 1 |
| receptor ligand activity | 1 |
| cytoskeletal protein binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
536 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HDGFL3 | HMCN2 | Q8NDA2 | 447 |
| HDGFL3 | BRPF1 | P55201 | 416 |
| HDGFL3 | PON3 | Q15166 | 411 |
| HDGFL3 | MORF4L1 | Q9UBU8 | 374 |
| HDGFL3 | C15orf40 | Q8WUR7 | 369 |
| HDGFL3 | ANTXR2 | P58335 | 358 |
| HDGFL3 | SDR42E1 | Q8WUS8 | 349 |
| HDGFL3 | BTBD1 | Q9H0C5 | 348 |
| HDGFL3 | RAMAC | Q9BTL3 | 310 |
| HDGFL3 | URAD | A6NGE7 | 306 |
| HDGFL3 | ANAPC15 | P60006 | 299 |
| HDGFL3 | FSD2 | A1L4K1 | 297 |
| HDGFL3 | RSPH10B | P0C881 | 294 |
| HDGFL3 | BNC1 | Q01954 | 293 |
| HDGFL3 | SGIP1 | Q9BQI5 | 291 |
IntAct
31 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GPANK1 | ALOX12B | psi-mi:“MI:0914”(association) | 0.530 |
| GRB2 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.530 |
| SENP8 | HDGFL3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| BAZ2B | HDGFL3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TERF2IP | HDGFL3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| APP | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| RNF13 | AP3D1 | psi-mi:“MI:0914”(association) | 0.350 |
| PLSCR1 | psi-mi:“MI:0914”(association) | 0.350 | |
| BSCL2 | B4GAT1 | psi-mi:“MI:0914”(association) | 0.350 |
| MTERF2 | DCX | psi-mi:“MI:0914”(association) | 0.350 |
| CDKL5 | DHX16 | psi-mi:“MI:0914”(association) | 0.350 |
| CDK17 | DHPS | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF280A | NUCB2 | psi-mi:“MI:0914”(association) | 0.350 |
| BAZ2B | INA | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF23 | POLR1F | psi-mi:“MI:0914”(association) | 0.350 |
| SLC30A6 | ACTBL2 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| SF3B2 | HTATSF1 | psi-mi:“MI:0914”(association) | 0.350 |
| HDGFL2 | CIBAR1 | psi-mi:“MI:0914”(association) | 0.350 |
| VPS37A | PHF2 | psi-mi:“MI:0914”(association) | 0.350 |
| FAM161A | GH1 | psi-mi:“MI:0914”(association) | 0.350 |
| NOD2 | HSPA8 | psi-mi:“MI:0914”(association) | 0.350 |
| RBM42 | TNFSF10 | psi-mi:“MI:0914”(association) | 0.350 |
| ZIC2 | EEF1A2 | psi-mi:“MI:0914”(association) | 0.350 |
| ZRANB3 | COPS9 | psi-mi:“MI:0914”(association) | 0.350 |
| CPXCR1 | VTA1 | psi-mi:“MI:0914”(association) | 0.350 |
| EBAG9 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (48): HDGFRP3 (Affinity Capture-MS), HDGFRP3 (Affinity Capture-MS), HDGFRP3 (Affinity Capture-MS), HDGFRP3 (Affinity Capture-MS), HDGFRP3 (Affinity Capture-MS), HDGFRP3 (Affinity Capture-MS), HDGFRP3 (Affinity Capture-MS), HDGFRP3 (Affinity Capture-MS), HDGFRP3 (Affinity Capture-MS), HDGFRP3 (Affinity Capture-MS), HDGFRP3 (Affinity Capture-MS), HDGFRP3 (Affinity Capture-MS), HDGFRP3 (Affinity Capture-MS), HDGFRP3 (Affinity Capture-MS), HDGFRP3 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GTU1, A2CG63, A8MW92, D3Z8Y2, F8VPQ2, G3V8T1, O75475, O96028, P29374, P46100, P51858, P51859, Q0VEE6, Q2TB10, Q32N87, Q3TYA6, Q3UMU9, Q4LE39, Q4V9H5, Q5F363, Q5F489, Q5XXA7, Q5XXA9, Q62315, Q66T72, Q6P2L6, Q6P4K1, Q7YQM3, Q7YQM4, Q7Z4V5, Q812D1, Q8BVE8, Q8C9B9, Q8CCG4, Q8CCJ9, Q8MJG1, Q8NFC6, Q8R515, Q8VHK7, Q923W4
Diamond homologs: A4FUF0, F4I907, F4K4D6, O75475, P51858, P51859, Q175F8, Q29NG1, Q32N87, Q3UMU9, Q49A26, Q562D5, Q5R7T2, Q5RKH0, Q5RKN4, Q5XXA9, Q5ZLS7, Q66T72, Q6K431, Q6P2L6, Q6P4K1, Q7Q161, Q7Z4V5, Q812D1, Q8MJG1, Q8MT36, Q8T079, Q8VHK7, Q922P9, Q923W4, Q925G1, Q99JF8, Q9BZ95, Q9FNE4, Q9JMG7, Q9LEY4, Q9LSV0, Q9LYZ0, Q9SF36, Q9SZE1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
51 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 35 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2931 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:83115843:A:AG | acceptor_gain | 1.0000 |
| 15:83115843:AGT:A | acceptor_gain | 1.0000 |
| 15:83115844:G:GT | acceptor_gain | 1.0000 |
| 15:83115844:GT:G | acceptor_gain | 1.0000 |
| 15:83115844:GTG:G | acceptor_gain | 1.0000 |
| 15:83115844:GTGT:G | acceptor_gain | 1.0000 |
| 15:83119678:GGGA:G | donor_gain | 1.0000 |
| 15:83119679:G:GT | donor_gain | 1.0000 |
| 15:83119679:GGA:G | donor_gain | 1.0000 |
| 15:83119680:GA:G | donor_gain | 1.0000 |
| 15:83119680:GAG:G | donor_gain | 1.0000 |
| 15:83119682:G:GG | donor_gain | 1.0000 |
| 15:83139144:CAAA:C | donor_gain | 1.0000 |
| 15:83151208:T:TA | donor_gain | 1.0000 |
| 15:83151209:CCTTA:C | donor_loss | 1.0000 |
| 15:83151210:CTTA:C | donor_loss | 1.0000 |
| 15:83151211:TTA:T | donor_loss | 1.0000 |
| 15:83151212:TA:T | donor_loss | 1.0000 |
| 15:83151213:A:AC | donor_gain | 1.0000 |
| 15:83151213:A:AT | donor_loss | 1.0000 |
| 15:83151213:AC:A | donor_gain | 1.0000 |
| 15:83151213:ACC:A | donor_gain | 1.0000 |
| 15:83151214:C:CC | donor_gain | 1.0000 |
| 15:83151214:CC:C | donor_gain | 1.0000 |
| 15:83151214:CCC:C | donor_gain | 1.0000 |
| 15:83157411:TAAC:T | donor_loss | 1.0000 |
| 15:83157413:A:AG | donor_loss | 1.0000 |
| 15:83157426:A:AC | donor_gain | 1.0000 |
| 15:83157435:T:TA | donor_gain | 1.0000 |
| 15:83157569:ATTGC:A | acceptor_gain | 1.0000 |
AlphaMissense
1333 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:83157940:A:C | I88R | 1.000 |
| 15:83157940:A:T | I88K | 1.000 |
| 15:83157943:T:A | E87V | 1.000 |
| 15:83157944:C:T | E87K | 1.000 |
| 15:83157949:A:G | L85S | 1.000 |
| 15:83157952:C:A | G84V | 1.000 |
| 15:83157952:C:T | G84E | 1.000 |
| 15:83157953:C:G | G84R | 1.000 |
| 15:83157953:C:T | G84R | 1.000 |
| 15:83157960:A:C | F81L | 1.000 |
| 15:83157960:A:T | F81L | 1.000 |
| 15:83157961:A:C | F81C | 1.000 |
| 15:83157961:A:G | F81S | 1.000 |
| 15:83157962:A:C | F81V | 1.000 |
| 15:83157962:A:G | F81L | 1.000 |
| 15:83157962:A:T | F81I | 1.000 |
| 15:83157964:C:T | G80E | 1.000 |
| 15:83157965:C:G | G80R | 1.000 |
| 15:83157965:C:T | G80R | 1.000 |
| 15:83157970:C:G | R78P | 1.000 |
| 15:83157974:T:C | K77E | 1.000 |
| 15:83157988:A:G | F72S | 1.000 |
| 15:83158010:A:C | Y65D | 1.000 |
| 15:83158018:A:G | L62P | 1.000 |
| 15:83158018:A:T | L62H | 1.000 |
| 15:83158033:A:G | L57P | 1.000 |
| 15:83158033:A:T | L57Q | 1.000 |
| 15:83158035:A:C | F56L | 1.000 |
| 15:83158035:A:T | F56L | 1.000 |
| 15:83158036:A:G | F56S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000053900 (15:83178093 G>A), RS1000095506 (15:83132257 T>C), RS1000125578 (15:83135458 T>C), RS1000150718 (15:83195942 T>A,C), RS1000166847 (15:83146154 C>T), RS1000224301 (15:83159534 G>A), RS1000244268 (15:83175124 G>C), RS1000265689 (15:83195587 G>C), RS1000328733 (15:83203797 TTG>T), RS1000347467 (15:83162779 C>T), RS1000357412 (15:83190116 C>T), RS1000403146 (15:83183559 G>A,C), RS1000406326 (15:83208810 A>G), RS1000431642 (15:83191559 T>A,C), RS1000467142 (15:83168341 C>A)
Disease associations
OMIM: gene MIM:616643 | 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 |
|---|---|---|
| GCST90020028_1761 | Hip circumference adjusted for BMI | 3.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008039 | BMI-adjusted hip circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5724672 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.00 | IC50 | 10 | nM | MOLIBRESIB |
| 7.82 | Kd | 15 | nM | MOLIBRESIB |
PubChem BioAssay actives
2 with measured affinity, of 7 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2178394: Inhibition of HDGF2 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | ic50 | 0.0100 | uM |
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, increases methylation | 6 |
| bisphenol A | decreases expression | 2 |
| sodium arsenite | affects methylation, increases expression | 2 |
| Asbestos, Serpentine | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| trichostatin A | decreases expression | 1 |
| 1-UFT protocol | decreases response to substance | 1 |
| S 1 (combination) | decreases response to substance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| picoxystrobin | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Capecitabine | decreases response to substance | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Fluorouracil | affects reaction, decreases expression | 1 |
| Methotrexate | affects response to substance | 1 |
| Phenobarbital | increases expression | 1 |
| Rotenone | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | increases expression | 1 |
| Lithium Chloride | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5697124 | Binding | Inhibition of HDGF2 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature |
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.