ELAVL3
gene geneOn this page
Also known as HUCPLE21DKFZp547J036HUCLMGC20653
Summary
ELAVL3 (ELAV like RNA binding protein 3, HGNC:3314) is a protein-coding gene on chromosome 19p13.2, encoding ELAV-like protein 3 (Q14576). RNA-binding protein that binds to AU-rich element (ARE) sequences of target mRNAs, including VEGF mRNA.
A member of the ELAVL protein family, ELAV-like 3 is a neural-specific RNA-binding protein which contains three RNP-type RNA recognition motifs. The observation that ELAVL3 is one of several Hu antigens (neuronal-specific RNA-binding proteins) recognized by the anti-Hu serum antibody present in sera from patients with paraneoplastic encephalomyelitis and sensory neuronopathy (PEM/PSN) suggests it has a role in neurogenesis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.
Source: NCBI Gene 1995 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 32 total
- Druggable target: yes — 2 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_001420
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3314 |
| Approved symbol | ELAVL3 |
| Name | ELAV like RNA binding protein 3 |
| Location | 19p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HUC, PLE21, DKFZp547J036, HUCL, MGC20653 |
| Ensembl gene | ENSG00000196361 |
| Ensembl biotype | protein_coding |
| OMIM | 603458 |
| Entrez | 1995 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000359227, ENST00000438662, ENST00000588853, ENST00000592218, ENST00000897487, ENST00000897488, ENST00000897489
RefSeq mRNA: 2 — MANE Select: NM_001420
NM_001420, NM_032281
CCDS: CCDS32912, CCDS45978
Canonical transcript exons
ENST00000359227 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000679896 | 11458061 | 11458286 |
| ENSE00001435063 | 11480600 | 11481046 |
| ENSE00001642939 | 11457110 | 11457148 |
| ENSE00001662307 | 11466172 | 11466275 |
| ENSE00001798757 | 11458458 | 11458611 |
| ENSE00002769023 | 11451326 | 11454877 |
| ENSE00003597348 | 11466608 | 11466827 |
Expression profiles
Bgee: expression breadth ubiquitous, 258 present calls, max score 99.06.
FANTOM5 (CAGE): breadth broad, TPM avg 3.0238 / max 488.4674, expressed in 236 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 179245 | 2.2865 | 226 |
| 179243 | 0.5264 | 101 |
| 179244 | 0.1892 | 79 |
| 208691 | 0.0216 | 9 |
Top tissues by expression
282 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| inferior vagus X ganglion | UBERON:0005363 | 99.06 | gold quality |
| postcentral gyrus | UBERON:0002581 | 99.03 | gold quality |
| parietal lobe | UBERON:0001872 | 98.97 | gold quality |
| cortical plate | UBERON:0005343 | 98.80 | gold quality |
| entorhinal cortex | UBERON:0002728 | 98.72 | gold quality |
| ventral tegmental area | UBERON:0002691 | 98.45 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 98.37 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.10 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.94 | gold quality |
| paraflocculus | UBERON:0005351 | 97.93 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.91 | gold quality |
| cerebellar vermis | UBERON:0004720 | 97.91 | gold quality |
| pons | UBERON:0000988 | 97.88 | gold quality |
| type B pancreatic cell | CL:0000169 | 97.87 | gold quality |
| cerebellum | UBERON:0002037 | 97.82 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.79 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 97.78 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 97.37 | gold quality |
| buccal mucosa cell | CL:0002336 | 97.35 | gold quality |
| medulla oblongata | UBERON:0001896 | 97.33 | gold quality |
| olfactory bulb | UBERON:0002264 | 97.30 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 97.24 | gold quality |
| occipital lobe | UBERON:0002021 | 97.20 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 96.95 | gold quality |
| primary visual cortex | UBERON:0002436 | 96.64 | gold quality |
| frontal pole | UBERON:0002795 | 96.36 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.06 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 95.96 | gold quality |
| temporal lobe | UBERON:0001871 | 95.80 | gold quality |
| spinal cord | UBERON:0002240 | 95.74 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6108 | yes | 225.90 |
| E-MTAB-7316 | yes | 15.34 |
| E-GEOD-137537 | yes | 6.37 |
| E-HCAD-10 | yes | 4.74 |
| E-HCAD-5 | no | 17.34 |
| E-ANND-3 | no | 1.78 |
| E-MTAB-6142 | no | 0.94 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
174 targeting ELAVL3, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| 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-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
Literature-anchored findings (GeneRIF, showing 3)
- HuC expression in neuroblastoma (PMID:12209604)
- MiR-124 synergism with ELAVL3 enhances target gene expression to promote neuronal maturity. (PMID:34031238)
- Nuclear depletion of RNA-binding protein ELAVL3 (HuC) in sporadic and familial amyotrophic lateral sclerosis. (PMID:34618203)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | elavl3 | ENSDARG00000014420 |
| mus_musculus | Elavl3 | ENSMUSG00000003410 |
| rattus_norvegicus | Elavl3 | ENSRNOG00000013752 |
Paralogs (24): ELAVL1 (ENSG00000066044), PABPC1 (ENSG00000070756), RBMS2 (ENSG00000076067), PABPC4 (ENSG00000090621), PABPC1L (ENSG00000101104), ELAVL2 (ENSG00000107105), RBM24 (ENSG00000112183), TARDBP (ENSG00000120948), HNRNPR (ENSG00000125944), RBM38 (ENSG00000132819), SYNCRIP (ENSG00000135316), SF3B4 (ENSG00000143368), RBMS3 (ENSG00000144642), PABPC3 (ENSG00000151846), RBMS1 (ENSG00000153250), RBM45 (ENSG00000155636), ELAVL4 (ENSG00000162374), PABPC5 (ENSG00000174740), PUF60 (ENSG00000179950), PABPC1L2B (ENSG00000184388), PABPC1L2A (ENSG00000186288), RBM34 (ENSG00000188739), RBM14 (ENSG00000239306), PABPC4L (ENSG00000254535)
Protein
Protein identifiers
ELAV-like protein 3 — Q14576 (reviewed: Q14576)
Alternative names: Hu-antigen C, Paraneoplastic cerebellar degeneration-associated antigen, Paraneoplastic limbic encephalitis antigen 21
All UniProt accessions (2): Q14576, K7EPB5
UniProt curated annotations — full annotation on UniProt →
Function. RNA-binding protein that binds to AU-rich element (ARE) sequences of target mRNAs, including VEGF mRNA. May also bind poly-A tracts via RRM 3. May be involved in neuronal differentiation and maintenance. Plays a role in the stabilization of GAP43 mRNA and in spatial learning.
Subunit / interactions. Interacts with MAP1B light chain LC1.
Tissue specificity. Brain specific.
Domain organisation. RRM 1 and RRM 2 bind cooperatively to AU-rich sequences in target mRNAs. RRM 3 binds to poly-A mRNA sequences.
Similarity. Belongs to the RRM elav family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q14576-1 | 1 | yes |
| Q14576-2 | 2 |
RefSeq proteins (2): NP_001411, NP_115657 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR002343 | Hud_Sxl_RNA | Family |
| IPR003954 | RRM_euk-type | Domain |
| IPR006548 | ELAD_HU_SF | Family |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR034915 | HuC_RRM3 | Domain |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
Pfam: PF00076
UniProt features (15 total): sequence conflict 10, domain 3, chain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14576-F1 | 76.57 | 0.53 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 190 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE45365_NK_CELL_VS_CD11B_DC_UP, BENPORATH_ES_WITH_H3K27ME3, MYOGENIN_Q6, PEREZ_TP63_TARGETS, GCANCTGNY_MYOD_Q6, ATACCTC_MIR202, TGACCTY_ERR1_Q2, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, HANN_RESISTANCE_TO_BCL2_INHIBITOR_UP, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN, AML_Q6, MYCMAX_01, USF_01
GO Biological Process (2): nervous system development (GO:0007399), cell differentiation (GO:0030154)
GO Molecular Function (5): mRNA 3’-UTR AU-rich region binding (GO:0035925), nucleic acid binding (GO:0003676), RNA binding (GO:0003723), mRNA 3’-UTR binding (GO:0003730), protein binding (GO:0005515)
GO Cellular Component (1): ribonucleoprotein complex (GO:1990904)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| system development | 1 |
| cellular developmental process | 1 |
| mRNA 3’-UTR binding | 1 |
| nucleic acid binding | 1 |
| mRNA binding | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
2236 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ELAVL3 | FABP7 | O15540 | 630 |
| ELAVL3 | NEUROG2 | Q9H2A3 | 614 |
| ELAVL3 | LGALS4 | P56470 | 603 |
| ELAVL3 | GFAP | P14136 | 601 |
| ELAVL3 | NEUROG1 | Q92886 | 600 |
| ELAVL3 | SOX10 | P56693 | 586 |
| ELAVL3 | FAM98A | Q8NCA5 | 569 |
| ELAVL3 | ISL1 | P20663 | 559 |
| ELAVL3 | ZFP36 | P26651 | 552 |
| ELAVL3 | HES5 | Q5TA89 | 551 |
| ELAVL3 | DHX36 | Q9H2U1 | 545 |
| ELAVL3 | PAX6 | P26367 | 527 |
| ELAVL3 | S100B | P04271 | 524 |
| ELAVL3 | EWSR1 | Q01844 | 524 |
| ELAVL3 | OLIG2 | Q13516 | 521 |
IntAct
34 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SYNGAP1 | ELAVL3 | psi-mi:“MI:0915”(physical association) | 0.680 |
| ELAVL3 | SYNGAP1 | psi-mi:“MI:0915”(physical association) | 0.680 |
| SYNGAP1 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| ELAVL2 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| DYRK1A | ELAVL3 | psi-mi:“MI:0915”(physical association) | 0.500 |
| SCN2A | ELAVL3 | psi-mi:“MI:0915”(physical association) | 0.500 |
| DYRK1A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.500 |
| ELAVL3 | A2M | psi-mi:“MI:0915”(physical association) | 0.370 |
| CDC37 | ELAVL3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ELAVL3 | ECSIT | psi-mi:“MI:0915”(physical association) | 0.370 |
| MAST1 | ELAVL3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ELAVL3 | NOS3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ELAVL3 | RNF32 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ELAVL3 | EWSR1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| LIN28A | MEX3A | psi-mi:“MI:0914”(association) | 0.350 |
| CEP63 | CIBAR1 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP135 | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| SCN2A | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| DYRK1A | TEX13D | psi-mi:“MI:0914”(association) | 0.350 |
| RIMS1 | KIF2A | psi-mi:“MI:0914”(association) | 0.350 |
| HCN1 | USP27X | psi-mi:“MI:0914”(association) | 0.350 |
| SYNGAP1 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| CACNA1C | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.350 |
| SYNGAP1 | POM121C | psi-mi:“MI:0914”(association) | 0.350 |
| SYNGAP1 | IGLON5 | psi-mi:“MI:0914”(association) | 0.350 |
| PABPC5 | APOBEC3DE | psi-mi:“MI:0914”(association) | 0.350 |
| GPM6A | KIF2A | psi-mi:“MI:0914”(association) | 0.350 |
| DAZL | HSPD1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (68): EWSR1 (Two-hybrid), ELAVL3 (Affinity Capture-MS), PEX14 (Co-fractionation), ELAVL3 (Biochemical Activity), ELAVL3 (Affinity Capture-MS), ELAVL3 (Affinity Capture-MS), ELAVL3 (Affinity Capture-MS), ELAVL3 (Affinity Capture-MS), ELAVL3 (Affinity Capture-MS), ELAVL3 (Affinity Capture-MS), ELAVL3 (Two-hybrid), ELAVL3 (Affinity Capture-MS), ELAVL3 (Affinity Capture-MS), ELAVL3 (Affinity Capture-MS), ELAVL3 (Proximity Label-MS)
ESM2 similar proteins: A0A0R4IEW8, A4QNI8, B5DF91, O01671, O09032, O17310, O61374, O64380, O95758, O97018, P16914, P19339, P26378, P26599, P42731, P70372, P86049, Q12926, Q14576, Q15717, Q1JQ73, Q24668, Q28FX0, Q28GD4, Q29099, Q5R9H4, Q5R9Z6, Q5U259, Q5YD48, Q60899, Q60900, Q61701, Q6DEY7, Q6GLB5, Q6GR16, Q6YZW2, Q7SZT7, Q8CH84, Q8GZ26, Q8LFS6
Diamond homologs: A0A0R4IEW8, A4QNI8, A8NS61, A8WLV5, B3M3R5, B3NGA1, B4HUE4, B4IX08, B4KX02, B4LFQ9, B4MM23, B4PIS2, B4QRJ0, B5DF91, B8BCZ8, O01671, O04425, O09032, O17310, O61374, O75821, O89086, O97018, P16914, P19339, P19683, P23241, P26378, P28644, P29558, P49310, P60824, P60825, P60826, P70372, P98179, Q04836, Q12926, Q14011, Q14498
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ELAVL3 | “down-regulates quantity” | ANK3 | “post transcriptional regulation” |
| ELAVL3 | “up-regulates quantity” | ADAM10 | “post transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
32 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 2 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1506 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:11457105:GTTAC:G | donor_loss | 1.0000 |
| 19:11457106:TTAC:T | donor_loss | 1.0000 |
| 19:11457107:TAC:T | donor_loss | 1.0000 |
| 19:11457109:C:CT | donor_loss | 1.0000 |
| 19:11457109:CCT:C | donor_gain | 1.0000 |
| 19:11457144:CCAGC:C | acceptor_gain | 1.0000 |
| 19:11457145:CAGC:C | acceptor_gain | 1.0000 |
| 19:11457145:CAGCC:C | acceptor_gain | 1.0000 |
| 19:11457147:GCCT:G | acceptor_loss | 1.0000 |
| 19:11457148:CCTG:C | acceptor_loss | 1.0000 |
| 19:11457149:C:CC | acceptor_gain | 1.0000 |
| 19:11458055:GCTCA:G | donor_loss | 1.0000 |
| 19:11458056:CTCA:C | donor_loss | 1.0000 |
| 19:11458057:TCA:T | donor_loss | 1.0000 |
| 19:11458058:CA:C | donor_loss | 1.0000 |
| 19:11458059:A:AC | donor_gain | 1.0000 |
| 19:11458059:ACCGG:A | donor_loss | 1.0000 |
| 19:11458060:C:CC | donor_gain | 1.0000 |
| 19:11458284:CAC:C | acceptor_gain | 1.0000 |
| 19:11458285:ACCTG:A | acceptor_loss | 1.0000 |
| 19:11458287:C:CC | acceptor_gain | 1.0000 |
| 19:11458288:T:C | acceptor_loss | 1.0000 |
| 19:11458291:C:CT | acceptor_gain | 1.0000 |
| 19:11458291:C:T | acceptor_gain | 1.0000 |
| 19:11458292:A:T | acceptor_gain | 1.0000 |
| 19:11458451:G:GA | donor_gain | 1.0000 |
| 19:11458453:CTGA:C | donor_loss | 1.0000 |
| 19:11458454:TGA:T | donor_loss | 1.0000 |
| 19:11458455:GAC:G | donor_loss | 1.0000 |
| 19:11458456:ACC:A | donor_loss | 1.0000 |
AlphaMissense
2403 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:11454550:C:A | K360N | 1.000 |
| 19:11454550:C:G | K360N | 1.000 |
| 19:11454552:T:C | K360E | 1.000 |
| 19:11454553:G:C | F359L | 1.000 |
| 19:11454553:G:T | F359L | 1.000 |
| 19:11454554:A:G | F359S | 1.000 |
| 19:11454555:A:G | F359L | 1.000 |
| 19:11454558:A:G | S358P | 1.000 |
| 19:11454560:A:T | V357D | 1.000 |
| 19:11454566:A:C | L355R | 1.000 |
| 19:11454566:A:G | L355P | 1.000 |
| 19:11454566:A:T | L355Q | 1.000 |
| 19:11454596:A:G | L345P | 1.000 |
| 19:11454605:A:T | I342N | 1.000 |
| 19:11454608:G:T | A341D | 1.000 |
| 19:11454609:C:G | A341P | 1.000 |
| 19:11454617:G:T | A338E | 1.000 |
| 19:11454618:C:G | A338P | 1.000 |
| 19:11454634:C:A | M332I | 1.000 |
| 19:11454634:C:G | M332I | 1.000 |
| 19:11454634:C:T | M332I | 1.000 |
| 19:11454635:A:C | M332R | 1.000 |
| 19:11454635:A:G | M332T | 1.000 |
| 19:11454635:A:T | M332K | 1.000 |
| 19:11454641:A:T | V330E | 1.000 |
| 19:11454642:C:T | V330M | 1.000 |
| 19:11454643:G:C | F329L | 1.000 |
| 19:11454643:G:T | F329L | 1.000 |
| 19:11454644:A:C | F329C | 1.000 |
| 19:11454644:A:G | F329S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000091095 (19:11452297 A>C), RS1000426319 (19:11475920 A>G), RS1000439053 (19:11463744 G>A), RS1000549220 (19:11465200 CCACA>C,CCA), RS1000583738 (19:11469454 A>T), RS1000789928 (19:11462456 G>C), RS1000862865 (19:11478810 G>A,T), RS1001000781 (19:11473262 G>A,C), RS1001054492 (19:11473514 C>G), RS1001132968 (19:11454062 T>C), RS1001143224 (19:11479101 A>C), RS1001185574 (19:11470611 G>A), RS1001251695 (19:11453782 GC>G,GCC,GCCCC), RS1001261197 (19:11475613 T>C), RS1001281506 (19:11476522 C>G,T)
Disease associations
OMIM: gene MIM:603458 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003563_11 | Presence of antiphospholipid antibodies | 3.000000e-06 |
| GCST003563_12 | Presence of antiphospholipid antibodies | 4.000000e-06 |
| GCST003563_6 | Presence of antiphospholipid antibodies | 5.000000e-08 |
| GCST006258_40 | Diastolic blood pressure | 4.000000e-08 |
| GCST006259_23 | Systolic blood pressure | 7.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006336 | diastolic blood pressure |
| EFO:0006335 | systolic blood pressure |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4105924 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 97,707 (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 |
|---|---|---|---|
| CHEMBL50 | QUERCETIN | 3 | 74,559 |
| CHEMBL6246 | ELLAGIC ACID | 2 | 23,148 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
6 potent at pChembl≥5 of 6 total, top 6 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.70 | IC50 | 200 | nM | EPICATECHIN GALLATE |
| 6.70 | IC50 | 200 | nM | CHEMBL4088244 |
| 6.22 | IC50 | 600 | nM | ELLAGIC ACID |
| 6.00 | IC50 | 1000 | nM | MYRICETIN |
| 5.92 | IC50 | 1200 | nM | RHAMNETIN |
| 5.75 | IC50 | 1800 | nM | QUERCETIN |
PubChem BioAssay actives
6 with measured affinity, of 6 total; 6 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 |
|---|---|---|---|---|
| [(2R,3R)-2-(3,4-dihydroxyphenyl)-5,7-dihydroxy-3,4-dihydro-2H-chromen-3-yl] 3,4,5-trihydroxybenzoate | 1450465: Inhibition of ELAV3 (unknown origin)-artificial ARE complex formation after 30 mins in the presence of biotin-labeled RNA probe by chemiluminescence nucleic acid detection method | ic50 | 0.2000 | uM |
| [(2R,3R)-5-hydroxy-7-methoxy-2-(3,4,5-trihydroxyphenyl)-3,4-dihydro-2H-chromen-3-yl] 3,4,5-trihydroxybenzoate | 1450465: Inhibition of ELAV3 (unknown origin)-artificial ARE complex formation after 30 mins in the presence of biotin-labeled RNA probe by chemiluminescence nucleic acid detection method | ic50 | 0.2000 | uM |
| 6,7,13,14-tetrahydroxy-2,9-dioxatetracyclo[6.6.2.04,16.011,15]hexadeca-1(15),4,6,8(16),11,13-hexaene-3,10-dione | 1450465: Inhibition of ELAV3 (unknown origin)-artificial ARE complex formation after 30 mins in the presence of biotin-labeled RNA probe by chemiluminescence nucleic acid detection method | ic50 | 0.6000 | uM |
| 3,5,7-trihydroxy-2-(3,4,5-trihydroxyphenyl)chromen-4-one | 1450465: Inhibition of ELAV3 (unknown origin)-artificial ARE complex formation after 30 mins in the presence of biotin-labeled RNA probe by chemiluminescence nucleic acid detection method | ic50 | 1.0000 | uM |
| 2-(3,4-dihydroxyphenyl)-3,5-dihydroxy-7-methoxychromen-4-one | 1450465: Inhibition of ELAV3 (unknown origin)-artificial ARE complex formation after 30 mins in the presence of biotin-labeled RNA probe by chemiluminescence nucleic acid detection method | ic50 | 1.2000 | uM |
| Quercetin | 1450465: Inhibition of ELAV3 (unknown origin)-artificial ARE complex formation after 30 mins in the presence of biotin-labeled RNA probe by chemiluminescence nucleic acid detection method | ic50 | 1.8000 | uM |
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, increases methylation | 8 |
| entinostat | affects cotreatment, increases expression | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases methylation, increases expression | 2 |
| methylmercuric chloride | increases expression | 1 |
| O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate | affects expression, affects response to substance | 1 |
| ascorbate-2-phosphate | decreases expression, affects binding, affects cotreatment | 1 |
| trichostatin A | increases expression | 1 |
| 4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid | affects cotreatment, decreases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| Chir 99021 | affects binding, affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | increases expression | 1 |
| XAV939 | affects cotreatment, decreases expression, affects binding | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| 3-(4-pyridyl)-1H-indole | affects cotreatment, decreases expression | 1 |
| Decitabine | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Antimycin A | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Ascorbic Acid | affects binding, affects cotreatment, decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Hydrocortisone | affects cotreatment, decreases expression | 1 |
| Rotenone | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Triclosan | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4018387 | Binding | Inhibition of ELAV3 (unknown origin)-artificial ARE complex formation after 30 mins in the presence of biotin-labeled RNA probe by chemiluminescence nucleic acid detection method | Compounds Interfering with Embryonic Lethal Abnormal Vision (ELAV) Protein-RNA Complexes: An Avenue for Discovering New Drugs. — J Med Chem |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D1SA | Abcam U-87MG ELAVL3 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.