HECTD3
gene geneOn this page
Also known as FLJ21156
Summary
HECTD3 (HECT domain E3 ubiquitin protein ligase 3, HGNC:26117) is a protein-coding gene on chromosome 1p34.1, encoding E3 ubiquitin-protein ligase HECTD3 (Q5T447). E3 ubiquitin ligases accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.
The protein encoded by this gene transfers ubiquitin from an E2 ubiquitin-conjugating enzyme to targeted substrates, leading to the degradation of those substrates. The encoded protein has been shown to transfer ubiquitin to TRIOBP to facilitate cell cycle progression, and to STX8.
Source: NCBI Gene 79654 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 130 total
- MANE Select transcript:
NM_024602
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26117 |
| Approved symbol | HECTD3 |
| Name | HECT domain E3 ubiquitin protein ligase 3 |
| Location | 1p34.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ21156 |
| Ensembl gene | ENSG00000126107 |
| Ensembl biotype | protein_coding |
| OMIM | 618638 |
| Entrez | 79654 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 17 protein_coding, 5 protein_coding_CDS_not_defined
ENST00000372168, ENST00000372172, ENST00000466423, ENST00000484564, ENST00000486132, ENST00000486296, ENST00000487488, ENST00000875134, ENST00000875135, ENST00000875136, ENST00000875137, ENST00000875138, ENST00000875139, ENST00000875140, ENST00000875141, ENST00000875142, ENST00000875143, ENST00000875144, ENST00000875145, ENST00000927793, ENST00000949667, ENST00000949668
RefSeq mRNA: 1 — MANE Select: NM_024602
NM_024602
CCDS: CCDS41318
Canonical transcript exons
ENST00000372172 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000957527 | 45005997 | 45006116 |
| ENSE00001046371 | 45009144 | 45009226 |
| ENSE00001046377 | 45009986 | 45010121 |
| ENSE00001046378 | 45008240 | 45008321 |
| ENSE00001046384 | 45008536 | 45008701 |
| ENSE00001046388 | 45007219 | 45007271 |
| ENSE00001046392 | 45010201 | 45010293 |
| ENSE00001046395 | 45007413 | 45007595 |
| ENSE00001218189 | 45009369 | 45009482 |
| ENSE00001218194 | 45009568 | 45009683 |
| ENSE00001407801 | 45010546 | 45010706 |
| ENSE00001918003 | 45010889 | 45011324 |
| ENSE00003492866 | 45004600 | 45004806 |
| ENSE00003497096 | 45006692 | 45006795 |
| ENSE00003508250 | 45006951 | 45007015 |
| ENSE00003536147 | 45004248 | 45004377 |
| ENSE00003549280 | 45004060 | 45004134 |
| ENSE00003591802 | 45003669 | 45003740 |
| ENSE00003659004 | 45003855 | 45003936 |
| ENSE00003673264 | 45005794 | 45005883 |
| ENSE00003848090 | 45002548 | 45003576 |
Expression profiles
Bgee: expression breadth ubiquitous, 267 present calls, max score 96.54.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.9826 / max 205.4568, expressed in 1808 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 12106 | 17.8962 | 1808 |
| 12105 | 0.0864 | 30 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ileal mucosa | UBERON:0000331 | 96.54 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 96.49 | gold quality |
| transverse colon | UBERON:0001157 | 95.25 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 95.21 | gold quality |
| body of pancreas | UBERON:0001150 | 95.07 | gold quality |
| small intestine | UBERON:0002108 | 94.72 | gold quality |
| rectum | UBERON:0001052 | 94.29 | gold quality |
| skin of leg | UBERON:0001511 | 94.05 | gold quality |
| duodenum | UBERON:0002114 | 93.84 | gold quality |
| right lobe of liver | UBERON:0001114 | 93.54 | gold quality |
| skin of abdomen | UBERON:0001416 | 93.50 | gold quality |
| mucosa of stomach | UBERON:0001199 | 93.39 | gold quality |
| minor salivary gland | UBERON:0001830 | 93.28 | gold quality |
| metanephros cortex | UBERON:0010533 | 92.99 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 92.96 | gold quality |
| body of stomach | UBERON:0001161 | 92.94 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 92.92 | gold quality |
| right adrenal gland | UBERON:0001233 | 92.70 | gold quality |
| intestine | UBERON:0000160 | 92.65 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 92.63 | gold quality |
| right coronary artery | UBERON:0001625 | 92.55 | gold quality |
| granulocyte | CL:0000094 | 92.51 | gold quality |
| colon | UBERON:0001155 | 92.49 | gold quality |
| tibial nerve | UBERON:0001323 | 92.41 | gold quality |
| right ovary | UBERON:0002118 | 92.41 | gold quality |
| large intestine | UBERON:0000059 | 92.33 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 92.33 | gold quality |
| jejunal mucosa | UBERON:0000399 | 92.29 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 92.29 | gold quality |
| left adrenal gland | UBERON:0001234 | 92.24 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.92 |
| E-MTAB-6386 | no | 193.81 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
95 targeting HECTD3, 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-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-26B-5P | 99.78 | 73.51 | 2305 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-378G | 99.71 | 64.90 | 1106 |
Literature-anchored findings (GeneRIF, showing 6)
- All these findings suggest that HECTD3 may facilitate cell cycle progression via regulating ubiquitination and degradation of Tara. (PMID:18194665)
- Overexpression of MALT1 partially rescues HECTD3 depletion-induced apoptosis. (PMID:23358872)
- HECTD3 as a tumor suppressor modulating the activity of this important oncogenic signaling pathway. (PMID:28636940)
- This review describes the progress in the recent studies of HECTD3 in cancer and other diseases. [review] (PMID:31637449)
- HECTD3 regulates the tumourigenesis of glioblastoma by polyubiquitinating PARP1 and activating EGFR signalling pathway. (PMID:36088509)
- E3 ubiquitin ligase HECTD3 is a tumor suppressor and mediates the polyubiquitination of SLC7A11 to promote ferroptosis in colon cancer. (PMID:37422058)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | hectd3 | ENSDARG00000038905 |
| mus_musculus | Hectd3 | ENSMUSG00000046861 |
| rattus_norvegicus | Hectd3 | ENSRNOG00000018363 |
Protein
Protein identifiers
E3 ubiquitin-protein ligase HECTD3 — Q5T447 (reviewed: Q5T447)
Alternative names: HECT domain-containing protein 3, HECT-type E3 ubiquitin transferase HECTD3
All UniProt accessions (1): Q5T447
UniProt curated annotations — full annotation on UniProt →
Function. E3 ubiquitin ligases accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates ubiquitination of TRIOBP and its subsequent proteasomal degradation, thus facilitating cell cycle progression by regulating the turn-over of TRIOBP. Mediates also ubiquitination of STX8.
Subunit / interactions. Interacts with TRIOBP. Interacts with STX8.
Subcellular location. Cytoplasm. Perinuclear region.
Pathway. Protein modification; protein ubiquitination.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5T447-1 | 1 | yes |
| Q5T447-2 | 2 |
RefSeq proteins (1): NP_078878* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000569 | HECT_dom | Domain |
| IPR004939 | APC_su10/DOC_dom | Domain |
| IPR008979 | Galactose-bd-like_sf | Homologous_superfamily |
| IPR035983 | Hect_E3_ubiquitin_ligase | Homologous_superfamily |
| IPR042469 | HECTD3 | Family |
Pfam: PF00632, PF03256
Enzyme classification (BRENDA):
- EC 2.3.2.26 — HECT-type E3 ubiquitin transferase (BRENDA: 14 organisms, 64 substrates, 19 inhibitors, 5 Km, 5 kcat entries)
Substrate kinetics (BRENDA)
1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| [UBC5B]-L-LYSINE | 0.0046–0.037 | 5 |
UniProt features (10 total): domain 2, modified residue 2, splice variant 2, initiator methionine 1, chain 1, active site 1, mutagenesis site 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9R6V | X-RAY DIFFRACTION | 1.61 |
| 9R85 | ELECTRON MICROSCOPY | 3.04 |
| 9R8T | ELECTRON MICROSCOPY | 6.06 |
| 9R94 | ELECTRON MICROSCOPY | 6.38 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5T447-F1 | 84.48 | 0.49 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 823 (glycyl thioester intermediate)
Post-translational modifications (2): 2, 12
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 823 | loss of ubiquitin-ligase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
MSigDB gene sets: 132 (showing top):
GCM_GSPT1, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GCM_ZNF198, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, chr1p34, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEIN_CATABOLIC_PROCESS, PARENT_MTOR_SIGNALING_UP, GOBP_PROTEOLYSIS, GOMF_SYNTAXIN_BINDING
GO Biological Process (2): protein ubiquitination (GO:0016567), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)
GO Molecular Function (5): ubiquitin-protein transferase activity (GO:0004842), syntaxin binding (GO:0019905), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740)
GO Cellular Component (2): perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737)
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 | 2 |
| protein modification by small protein conjugation | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| ubiquitin-like protein transferase activity | 1 |
| SNARE binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1185 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HECTD3 | KIAA2013 | Q8IYS2 | 552 |
| HECTD3 | DHRS7 | Q9Y394 | 461 |
| HECTD3 | GGT7 | Q9UJ14 | 414 |
| HECTD3 | NOTO | A8MTQ0 | 369 |
| HECTD3 | VIT | Q6UXI7 | 367 |
| HECTD3 | ADAM19 | Q9H013 | 353 |
| HECTD3 | PLS1 | Q14651 | 346 |
| HECTD3 | MTDH | Q86UE4 | 332 |
| HECTD3 | DTX3 | Q8N9I9 | 307 |
| HECTD3 | GPR75 | O95800 | 305 |
| HECTD3 | PKDCC | Q504Y2 | 303 |
| HECTD3 | WWC2 | Q6AWC2 | 300 |
| HECTD3 | TRIP12 | Q14669 | 296 |
| HECTD3 | RNF114 | Q9Y508 | 280 |
| HECTD3 | PSME4 | Q14997 | 266 |
IntAct
152 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EIF4E2 | GIGYF1 | psi-mi:“MI:0914”(association) | 0.730 |
| MAVS | RIPK2 | psi-mi:“MI:0914”(association) | 0.580 |
| PPL | HECTD3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| YJU2B | RCCD1 | psi-mi:“MI:0914”(association) | 0.530 |
| RBFA | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| ODAD4 | GNPAT | psi-mi:“MI:0914”(association) | 0.530 |
| SERPINA5 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| CPA6 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| ANGPT2 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| GAST | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| FOSL2 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| CAVIN1 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| TRMT10C | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| POGLUT1 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS24 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| CHRDL1 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| PARD6B | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| COPS7B | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| WFDC10A | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC3A | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS34 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| GREM2 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (203): HECTD3 (Two-hybrid), HECTD3 (Affinity Capture-MS), HECTD3 (Affinity Capture-MS), HECTD3 (Affinity Capture-MS), HECTD3 (Affinity Capture-MS), HECTD3 (Affinity Capture-MS), HECTD3 (Affinity Capture-MS), HECTD3 (Affinity Capture-MS), HECTD3 (Affinity Capture-MS), HECTD3 (Affinity Capture-MS), HECTD3 (Affinity Capture-MS), HECTD3 (Affinity Capture-MS), HECTD3 (Affinity Capture-MS), HECTD3 (Affinity Capture-MS), HECTD3 (Affinity Capture-MS)
ESM2 similar proteins: A0A0K9RDW0, A1L4V7, A2Y8B9, A3BN26, A6NHR9, B4FTR7, B8B0E2, B9EYZ1, F4I933, F4J117, O35099, O49931, O81360, P03271, P03272, P03273, P93236, P93740, Q0DST9, Q0DVX2, Q0JCU7, Q0WL81, Q3U487, Q56X76, Q5E9N5, Q5M721, Q5QLS7, Q5T447, Q5VRY0, Q5VS72, Q60649, Q69TY5, Q6ATB4, Q6K9C1, Q6YSY5, Q7X745, Q8H4D4, Q8IZ73, Q8S2E5, Q8W519
Diamond homologs: B4F6W9, C6KTB7, E1B7Q7, F1LP64, F1RCR6, G5E870, Q14669, Q15751, Q3U487, Q5T447, D3ZEF4, O43149, O95714, Q14999, Q4U2R1, Q5RCJ3, Q5SSH7, Q80TT8, Q8IWT3, Q8VE73, Q9VR91, A2A5Z6, A6NED2, A9JRZ0, D3ZBM7, D3ZGQ5, E1C656, F1N6G5, F2Z461, F8W2M1, O74881, O75592, O95199, P0C5Y8, P14199, P18754, P23800, P34664, Q15034, Q1LZE1
SIGNOR signaling
8 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | HECTD3 | ubiquitination |
| HECTD3 | “down-regulates quantity by destabilization” | TRIOBP | polyubiquitination |
| HECTD3 | “down-regulates quantity by destabilization” | STX8 | polyubiquitination |
| HECTD3 | “down-regulates activity” | CASP8 | polyubiquitination |
| HECTD3 | “up-regulates quantity by stabilization” | MALT1 | polyubiquitination |
| HECTD3 | “down-regulates quantity by destabilization” | RAF1 | polyubiquitination |
| HECTD3 | “down-regulates activity” | CASP9 | polyubiquitination |
| ERK1/2 | “up-regulates activity” | HECTD3 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 149 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 |
|---|---|---|---|
| Mitochondrial translation initiation | 8 | 12.1× | 4e-05 |
| Mitochondrial translation elongation | 8 | 12.1× | 4e-05 |
| Mitochondrial ribosome-associated quality control | 8 | 11.7× | 4e-05 |
| Mitochondrial translation | 7 | 11.5× | 2e-04 |
| Mitochondrial translation termination | 8 | 10.5× | 7e-05 |
| Translation | 9 | 6.7× | 5e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 8 | 11.1× | 6e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
130 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 105 |
| Likely benign | 5 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2812 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:45003575:CA:C | acceptor_gain | 1.0000 |
| 1:45003577:C:CC | acceptor_gain | 1.0000 |
| 1:45003664:CCCA:C | donor_loss | 1.0000 |
| 1:45003666:CAC:C | donor_loss | 1.0000 |
| 1:45003668:C:G | donor_loss | 1.0000 |
| 1:45003851:TCA:T | donor_loss | 1.0000 |
| 1:45003852:CAC:C | donor_loss | 1.0000 |
| 1:45003853:A:AC | donor_gain | 1.0000 |
| 1:45003853:A:AT | donor_loss | 1.0000 |
| 1:45003853:AC:A | donor_gain | 1.0000 |
| 1:45003853:ACC:A | donor_gain | 1.0000 |
| 1:45003853:ACCC:A | donor_gain | 1.0000 |
| 1:45003854:C:CC | donor_gain | 1.0000 |
| 1:45003854:CC:C | donor_gain | 1.0000 |
| 1:45003854:CCC:C | donor_gain | 1.0000 |
| 1:45003854:CCCC:C | donor_gain | 1.0000 |
| 1:45003854:CCCCA:C | donor_gain | 1.0000 |
| 1:45003932:GTCCT:G | acceptor_gain | 1.0000 |
| 1:45003935:CT:C | acceptor_gain | 1.0000 |
| 1:45003937:C:CC | acceptor_gain | 1.0000 |
| 1:45003938:T:A | acceptor_loss | 1.0000 |
| 1:45004055:CTGA:C | donor_loss | 1.0000 |
| 1:45004056:TGAC:T | donor_loss | 1.0000 |
| 1:45004057:GACCG:G | donor_loss | 1.0000 |
| 1:45004058:A:AC | donor_gain | 1.0000 |
| 1:45004058:A:C | donor_loss | 1.0000 |
| 1:45004059:C:CC | donor_gain | 1.0000 |
| 1:45004130:CCGGG:C | acceptor_gain | 1.0000 |
| 1:45004131:CGGG:C | acceptor_gain | 1.0000 |
| 1:45004131:CGGGC:C | acceptor_gain | 1.0000 |
AlphaMissense
5576 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:45003514:T:A | D855V | 1.000 |
| 1:45003515:C:G | D855H | 1.000 |
| 1:45003520:T:A | D853V | 1.000 |
| 1:45003523:A:T | I852N | 1.000 |
| 1:45003531:G:C | C849W | 1.000 |
| 1:45003532:C:T | C849Y | 1.000 |
| 1:45003533:A:G | C849R | 1.000 |
| 1:45003541:G:T | A846D | 1.000 |
| 1:45003553:A:G | L842P | 1.000 |
| 1:45003701:G:C | C823W | 1.000 |
| 1:45003702:C:T | C823Y | 1.000 |
| 1:45003703:A:G | C823R | 1.000 |
| 1:45003717:G:T | P818H | 1.000 |
| 1:45003718:G:A | P818S | 1.000 |
| 1:45003903:C:A | G794V | 1.000 |
| 1:45003903:C:T | G794D | 1.000 |
| 1:45003904:C:G | G794R | 1.000 |
| 1:45003909:A:T | V792D | 1.000 |
| 1:45003911:A:C | F791L | 1.000 |
| 1:45003911:A:T | F791L | 1.000 |
| 1:45003912:A:G | F791S | 1.000 |
| 1:45003913:A:G | F791L | 1.000 |
| 1:45003918:A:G | L789P | 1.000 |
| 1:45003930:C:G | R785P | 1.000 |
| 1:45004077:A:G | L777P | 1.000 |
| 1:45004259:A:G | L754P | 1.000 |
| 1:45005859:A:G | W624R | 1.000 |
| 1:45005859:A:T | W624R | 1.000 |
| 1:45006026:C:A | G606W | 1.000 |
| 1:45006026:C:G | G606R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000689718 (1:45010979 G>A), RS1000869341 (1:45007634 A>G), RS1001053303 (1:45012627 T>C), RS1001647308 (1:45012776 G>A), RS1001840437 (1:45013217 T>C), RS1001908940 (1:45011268 C>T), RS1001953903 (1:45011740 C>A,G,T), RS1002303555 (1:45008350 A>G), RS1002331523 (1:45008089 T>C), RS1002685942 (1:45009765 G>A,C), RS1002774560 (1:45002309 C>T), RS1002785985 (1:45003173 G>A,C), RS1003856792 (1:45005561 G>A,C), RS1003918163 (1:45011652 A>T), RS1004430579 (1:45011462 C>G)
Disease associations
OMIM: gene MIM:618638 | 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
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases expression | 5 |
| sodium arsenite | increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| 2,4,6-tribromophenol | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | increases expression, increases abundance | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Atrazine | increases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Carcinogens | decreases expression | 1 |
| Coumestrol | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tetrachlorodibenzodioxin | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| Particulate Matter | increases abundance, increases expression | 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.