LUC7L2
gene geneOn this page
Also known as CGI-74CGI-59H_NH0792N18.3FLJ10657LUC7B2hLuc7B2
Summary
LUC7L2 (LUC7 like 2, pre-mRNA splicing factor, HGNC:21608) is a protein-coding gene on chromosome 7q34, encoding Putative RNA-binding protein Luc7-like 2 (Q9Y383). May bind to RNA via its Arg/Ser-rich domain. It is a selective cancer dependency (DepMap: 17.1% of cell lines).
This gene encodes a protein that contains a C2H2-type zinc finger, coiled-coil region and arginine, serine-rich (RS) domain. A similar protein in mouse interacts with sodium channel modifier 1, and the encoded protein may be involved in the recognition of non-consensus splice donor sites in association with the U1 snRNP spliceosomal subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Source: NCBI Gene 51631 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 1 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- Cancer dependency (DepMap): dependent in 17.1% of screened cell lines
- MANE Select transcript:
NM_016019
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21608 |
| Approved symbol | LUC7L2 |
| Name | LUC7 like 2, pre-mRNA splicing factor |
| Location | 7q34 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CGI-74, CGI-59, H_NH0792N18.3, FLJ10657, LUC7B2, hLuc7B2 |
| Ensembl gene | ENSG00000146963 |
| Ensembl biotype | protein_coding |
| OMIM | 613056 |
| Entrez | 51631 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 17 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000263545, ENST00000354926, ENST00000435096, ENST00000456182, ENST00000463912, ENST00000482860, ENST00000498518, ENST00000541170, ENST00000608368, ENST00000619796, ENST00000867360, ENST00000867361, ENST00000867362, ENST00000867363, ENST00000867364, ENST00000867365, ENST00000867366, ENST00000867367, ENST00000933629, ENST00000947907, ENST00000947908, ENST00000947909, ENST00000947910
RefSeq mRNA: 3 — MANE Select: NM_016019
NM_001244585, NM_001270643, NM_016019
CCDS: CCDS43656, CCDS59085, CCDS59510
Canonical transcript exons
ENST00000354926 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001402065 | 139422163 | 139423454 |
| ENSE00003481714 | 139407174 | 139407350 |
| ENSE00003514400 | 139376062 | 139376156 |
| ENSE00003530613 | 139412551 | 139412580 |
| ENSE00003536523 | 139398599 | 139398697 |
| ENSE00003582705 | 139359894 | 139360322 |
| ENSE00003591256 | 139417538 | 139417729 |
| ENSE00003613929 | 139402137 | 139402247 |
| ENSE00003616162 | 139405644 | 139405787 |
| ENSE00003657081 | 139409563 | 139409654 |
Expression profiles
Bgee: expression breadth ubiquitous, 287 present calls, max score 98.95.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 83.9873 / max 1324.6369, expressed in 1827 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 81446 | 80.0280 | 1827 |
| 81447 | 2.3350 | 998 |
| 81448 | 0.7550 | 331 |
| 81445 | 0.5983 | 365 |
| 81449 | 0.2711 | 137 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 98.95 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 98.41 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 98.38 | gold quality |
| right uterine tube | UBERON:0001302 | 98.34 | gold quality |
| mucosa of stomach | UBERON:0001199 | 98.26 | gold quality |
| calcaneal tendon | UBERON:0003701 | 98.03 | gold quality |
| nerve | UBERON:0001021 | 98.00 | gold quality |
| tibial nerve | UBERON:0001323 | 98.00 | gold quality |
| thyroid gland | UBERON:0002046 | 97.89 | gold quality |
| endocervix | UBERON:0000458 | 97.69 | gold quality |
| left uterine tube | UBERON:0001303 | 97.64 | gold quality |
| ventricular zone | UBERON:0003053 | 97.64 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.62 | gold quality |
| right lung | UBERON:0002167 | 97.58 | gold quality |
| body of pancreas | UBERON:0001150 | 97.56 | gold quality |
| body of uterus | UBERON:0009853 | 97.55 | gold quality |
| tibial artery | UBERON:0007610 | 97.52 | gold quality |
| popliteal artery | UBERON:0002250 | 97.51 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.45 | gold quality |
| ectocervix | UBERON:0012249 | 97.43 | gold quality |
| skin of leg | UBERON:0001511 | 97.36 | gold quality |
| left ovary | UBERON:0002119 | 97.33 | gold quality |
| right ovary | UBERON:0002118 | 97.31 | gold quality |
| aorta | UBERON:0000947 | 97.30 | gold quality |
| right coronary artery | UBERON:0001625 | 97.19 | gold quality |
| thoracic aorta | UBERON:0001515 | 97.18 | gold quality |
| ascending aorta | UBERON:0001496 | 97.16 | gold quality |
| metanephros cortex | UBERON:0010533 | 97.09 | gold quality |
| tendon | UBERON:0000043 | 97.06 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 97.00 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.57 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
79 targeting LUC7L2, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-7978 | 99.86 | 66.90 | 856 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-520F-3P | 99.82 | 71.32 | 1216 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 17.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 4)
- Loss of LUC7L2 is associated with myeloid neoplasms. (PMID:24429498)
- Functional analyses of human LUC7-like proteins involved in splicing regulation and myeloid neoplasms. (PMID:33852859)
- Loss of LUC7L2 and U1 snRNP subunits shifts energy metabolism from glycolysis to OXPHOS. (PMID:33852893)
- Histone H3K9 Lactylation Confers Temozolomide Resistance in Glioblastoma via LUC7L2-Mediated MLH1 Intron Retention. (PMID:38477507)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zgc:158803 | ENSDARG00000019765 |
| mus_musculus | Luc7l2 | ENSMUSG00000029823 |
| rattus_norvegicus | Luc7l2 | ENSRNOG00000006001 |
| drosophila_melanogaster | CG7564 | FBGN0036734 |
| caenorhabditis_elegans | WBGENE00015207 |
Paralogs (2): LUC7L (ENSG00000007392), LUC7L3 (ENSG00000108848)
Protein
Protein identifiers
Putative RNA-binding protein Luc7-like 2 — Q9Y383 (reviewed: Q9Y383)
All UniProt accessions (3): Q9Y383, F8WEU3, V9GZ75
UniProt curated annotations — full annotation on UniProt →
Function. May bind to RNA via its Arg/Ser-rich domain.
Subunit / interactions. Interacts with SCNM1.
Subcellular location. Nucleus speckle. Nucleus. Nucleoplasm.
Similarity. Belongs to the Luc7 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y383-1 | 1 | yes |
| Q9Y383-2 | 2 | |
| Q9Y383-3 | 3 |
RefSeq proteins (3): NP_001231514, NP_001257572, NP_057103* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004882 | Luc7-rel | Family |
Pfam: PF03194
UniProt features (17 total): compositionally biased region 4, modified residue 3, splice variant 2, mutagenesis site 2, sequence conflict 2, chain 1, region of interest 1, sequence variant 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y383-F1 | 65.77 | 0.07 |
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 (3): 18, 266, 269
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 266 | induces a decrease in lysyl-hydroxylation. abolishes lysyl-hydroxylation; when associated with r-269. |
| 269 | induces a decrease in lysyl-hydroxylation. abolishes lysyl-hydroxylation; when associated with r-266. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 204 (showing top):
MYAATNNNNNNNGGC_UNKNOWN, E2F_Q4_01, GCM_GSPT1, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GGGTGGRR_PAX4_03, GTGCCTT_MIR506, ONKEN_UVEAL_MELANOMA_UP, FREAC3_01, BLALOCK_ALZHEIMERS_DISEASE_UP, WTGAAAT_UNKNOWN, ATTACAT_MIR3803P, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_RNA_SPLICING, GOBP_MRNA_SPLICE_SITE_RECOGNITION
GO Biological Process (1): mRNA splice site recognition (GO:0006376)
GO Molecular Function (4): RNA binding (GO:0003723), mRNA binding (GO:0003729), enzyme binding (GO:0019899), protein binding (GO:0005515)
GO Cellular Component (5): U1 snRNP (GO:0005685), nuclear speck (GO:0016607), U2-type prespliceosome (GO:0071004), nucleus (GO:0005634), nucleoplasm (GO:0005654)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| spliceosomal complex assembly | 1 |
| protein-RNA complex assembly | 1 |
| nucleic acid binding | 1 |
| RNA binding | 1 |
| protein binding | 1 |
| binding | 1 |
| spliceosomal snRNP complex | 1 |
| nuclear ribonucleoprotein granule | 1 |
| U2-type spliceosomal complex | 1 |
| U1 snRNP | 1 |
| U2 snRNP | 1 |
| prespliceosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1413 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LUC7L2 | SCNM1 | Q9BWG6 | 926 |
| LUC7L2 | SNRNP70 | P08621 | 817 |
| LUC7L2 | SNRPD2 | P43330 | 696 |
| LUC7L2 | U2AF1 | Q01081 | 691 |
| LUC7L2 | SNRPC | P09234 | 615 |
| LUC7L2 | U2AF2 | P26368 | 615 |
| LUC7L2 | ZRSR2 | Q15696 | 571 |
| LUC7L2 | NCBP3 | Q53F19 | 569 |
| LUC7L2 | ATP6V0E2 | Q8NHE4 | 545 |
| LUC7L2 | PRPF8 | Q6P2Q9 | 543 |
| LUC7L2 | SNRPA | P09012 | 538 |
| LUC7L2 | PRPF40B | Q6NWY9 | 535 |
| LUC7L2 | PRPF39 | Q86UA1 | 530 |
| LUC7L2 | HNRNPM | P52272 | 511 |
| LUC7L2 | SRSF5 | Q13243 | 511 |
IntAct
230 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MRFAP1 | MORF4L2 | psi-mi:“MI:0914”(association) | 0.950 |
| EAF1 | ELL2 | psi-mi:“MI:0914”(association) | 0.840 |
| CSNK2A2 | EIF3J | psi-mi:“MI:0914”(association) | 0.790 |
| LUC7L2 | SRSF6 | psi-mi:“MI:0915”(physical association) | 0.780 |
| SRSF7 | LUC7L2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| SRSF6 | LUC7L2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| APPBP2 | LUC7L2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| LUC7L2 | APPBP2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| LUC7L2 | SRPK2 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.720 |
| SRPK1 | LUC7L2 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| SCYL1 | SEC31A | psi-mi:“MI:0914”(association) | 0.710 |
| ARHGEF26 | CASK | psi-mi:“MI:0914”(association) | 0.690 |
| LUC7L2 | NFYA | psi-mi:“MI:0915”(physical association) | 0.670 |
| NFYA | LUC7L2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| LUC7L2 | MAP1LC3B | psi-mi:“MI:0915”(physical association) | 0.670 |
| CSNK2B | RPS6KA5 | psi-mi:“MI:0914”(association) | 0.660 |
BioGRID (528): LUC7L2 (Affinity Capture-MS), LUC7L2 (Two-hybrid), LUC7L2 (Two-hybrid), LUC7L2 (Two-hybrid), LUC7L2 (Two-hybrid), LUC7L2 (Affinity Capture-MS), LUC7L2 (Affinity Capture-MS), LUC7L2 (Affinity Capture-MS), LUC7L2 (Affinity Capture-MS), LUC7L2 (Affinity Capture-MS), LUC7L2 (Affinity Capture-MS), LUC7L2 (Affinity Capture-MS), LUC7L2 (Affinity Capture-MS), LARP7 (Affinity Capture-MS), ZC3H18 (Affinity Capture-MS)
ESM2 similar proteins: A2RVS6, A6QR16, G3V6S8, O22315, O35326, P08621, P09406, P26686, P30352, P62995, P62996, P62997, P84104, Q01130, Q06A98, Q08170, Q09167, Q10021, Q13243, Q13247, Q13595, Q15287, Q16629, Q18409, Q1RMR2, Q23120, Q23121, Q28E41, Q3B7L6, Q3KPW1, Q3MHR5, Q3T106, Q3TWW8, Q3ZBT6, Q4R5N1, Q5NVM8, Q5R1W5, Q5XG24, Q62093, Q62376
Diamond homologs: O95232, Q07508, Q3SX41, Q54XQ8, Q5R8W6, Q5SUF2, Q7TNC4, Q9CYI4, Q9NQ29, Q9USM4, Q9VVI1, Q9Y383, Q09217
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 179 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 |
|---|---|---|---|
| Transport of Mature Transcript to Cytoplasm | 7 | 21.3× | 1e-05 |
| mRNA 3’-end processing | 8 | 12.6× | 4e-05 |
| RNA Polymerase II Transcription Termination | 7 | 12.3× | 2e-04 |
| mRNA Splicing - Minor Pathway | 6 | 10.8× | 1e-03 |
| Transport of Mature mRNA derived from an Intron-Containing Transcript | 8 | 9.8× | 2e-04 |
| SPOP-mediated proteasomal degradation of PD-L1(CD274) | 5 | 9.1× | 7e-03 |
| Processing of Capped Intron-Containing Pre-mRNA | 13 | 8.5× | 3e-06 |
| mRNA Splicing | 9 | 7.9× | 2e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of mRNA splicing, via spliceosome | 5 | 23.9× | 3e-04 |
| spliceosomal complex assembly | 6 | 22.6× | 7e-05 |
| mRNA stabilization | 7 | 16.0× | 7e-05 |
| regulation of alternative mRNA splicing, via spliceosome | 7 | 10.7× | 6e-04 |
| circadian rhythm | 7 | 10.7× | 6e-04 |
| RNA splicing | 17 | 9.4× | 5e-09 |
| mRNA splicing, via spliceosome | 12 | 6.9× | 7e-05 |
| mRNA processing | 12 | 5.9× | 2e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
1 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3122 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:139341521:GG:G | donor_gain | 1.0000 |
| 7:139341522:GG:G | donor_gain | 1.0000 |
| 7:139341523:G:GA | donor_loss | 1.0000 |
| 7:139345620:GG:G | donor_gain | 1.0000 |
| 7:139345621:GG:G | donor_gain | 1.0000 |
| 7:139360318:GGACG:G | donor_gain | 1.0000 |
| 7:139360319:GACG:G | donor_gain | 1.0000 |
| 7:139360319:GACGG:G | donor_gain | 1.0000 |
| 7:139360320:ACG:A | donor_gain | 1.0000 |
| 7:139360321:CG:C | donor_gain | 1.0000 |
| 7:139360322:GG:G | donor_gain | 1.0000 |
| 7:139360323:G:GA | donor_loss | 1.0000 |
| 7:139360323:G:GG | donor_gain | 1.0000 |
| 7:139360324:T:A | donor_loss | 1.0000 |
| 7:139360324:T:G | donor_loss | 1.0000 |
| 7:139374878:A:AG | acceptor_gain | 1.0000 |
| 7:139374878:ATGT:A | acceptor_gain | 1.0000 |
| 7:139374879:T:G | acceptor_gain | 1.0000 |
| 7:139376054:T:G | acceptor_gain | 1.0000 |
| 7:139376055:A:AG | acceptor_gain | 1.0000 |
| 7:139376060:A:AG | acceptor_gain | 1.0000 |
| 7:139376061:G:GG | acceptor_gain | 1.0000 |
| 7:139376152:GAACT:G | donor_gain | 1.0000 |
| 7:139376157:G:GG | donor_gain | 1.0000 |
| 7:139398595:CCA:C | acceptor_loss | 1.0000 |
| 7:139398596:CAGAG:C | acceptor_loss | 1.0000 |
| 7:139398597:A:AG | acceptor_gain | 1.0000 |
| 7:139398597:A:T | acceptor_loss | 1.0000 |
| 7:139398598:G:GG | acceptor_gain | 1.0000 |
| 7:139398598:G:GT | acceptor_gain | 1.0000 |
AlphaMissense
2579 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:139360293:T:A | L11Q | 1.000 |
| 7:139360293:T:C | L11P | 1.000 |
| 7:139360302:T:C | L14S | 1.000 |
| 7:139360307:G:C | G16R | 1.000 |
| 7:139360307:G:T | G16C | 1.000 |
| 7:139376106:T:A | C36S | 1.000 |
| 7:139376106:T:C | C36R | 1.000 |
| 7:139376107:G:A | C36Y | 1.000 |
| 7:139376107:G:C | C36S | 1.000 |
| 7:139376107:G:T | C36F | 1.000 |
| 7:139376108:C:G | C36W | 1.000 |
| 7:139376119:T:A | L40H | 1.000 |
| 7:139376119:T:C | L40P | 1.000 |
| 7:139376130:T:A | C44S | 1.000 |
| 7:139376130:T:C | C44R | 1.000 |
| 7:139376131:G:A | C44Y | 1.000 |
| 7:139376131:G:C | C44S | 1.000 |
| 7:139376131:G:T | C44F | 1.000 |
| 7:139376132:T:G | C44W | 1.000 |
| 7:139376134:C:A | P45H | 1.000 |
| 7:139376146:T:C | L49P | 1.000 |
| 7:139376155:C:T | T52I | 1.000 |
| 7:139398600:G:C | R53T | 1.000 |
| 7:139398600:G:T | R53I | 1.000 |
| 7:139398601:A:C | R53S | 1.000 |
| 7:139398601:A:T | R53S | 1.000 |
| 7:139398617:T:A | C59S | 1.000 |
| 7:139398617:T:C | C59R | 1.000 |
| 7:139398618:G:C | C59S | 1.000 |
| 7:139398619:T:G | C59W | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000078372 (7:139356027 C>T), RS1000087403 (7:139339108 C>T), RS1000154260 (7:139366595 C>T), RS1000162485 (7:139359653 C>A,G,T), RS1000163825 (7:139379124 G>A), RS1000174566 (7:139339878 G>A), RS1000207338 (7:139395430 C>T), RS1000225053 (7:139419382 T>G), RS1000233183 (7:139398894 T>TG), RS1000271296 (7:139407863 T>C), RS1000355744 (7:139404456 C>T), RS1000390397 (7:139384752 T>A), RS1000404486 (7:139345066 C>T), RS1000409575 (7:139404736 G>A,T), RS1000438246 (7:139373043 T>C)
Disease associations
OMIM: gene MIM:613056 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002875_124 | Diisocyanate-induced asthma | 1.000000e-06 |
| GCST011197_1 | Left ventricular end-systolic volume (MTAG) | 2.000000e-06 |
| GCST011203_1 | Left ventricular end-diastolic volume (MTAG) | 2.000000e-08 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006995 | response to diisocyanate |
| EFO:0008206 | left ventricular systolic function measurement |
| EFO:0008204 | left ventricular diastolic function measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5724635 (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)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs6947309 | LUC7L2 | 0.00 | 0 |
ChEMBL bioactivities
5 potent at pChembl≥5 of 5 total, top 5 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.75 | Kd | 1769 | nM | CHEMBL3752910 |
| 5.75 | ED50 | 1769 | nM | CHEMBL3752910 |
| 5.59 | IC50 | 2590 | nM | MOLIBRESIB |
| 5.37 | Kd | 4273 | nM | CHEMBL5653589 |
| 5.37 | ED50 | 4273 | nM | CHEMBL5653589 |
PubChem BioAssay actives
3 with measured affinity, of 10 total; 3 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 |
|---|---|---|---|---|
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148675: Binding affinity to human LUC7L2 incubated for 45 mins by Kinobead based pull down assay | kd | 1.7689 | uM |
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2178874: Inhibition of LUC7L2 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | ic50 | 2.5900 | uM |
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148675: Binding affinity to human LUC7L2 incubated for 45 mins by Kinobead based pull down assay | kd | 4.2733 | uM |
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol S | affects expression, increases expression | 2 |
| Valproic Acid | decreases expression, decreases methylation | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects localization, increases expression, affects cotreatment | 1 |
| trichostatin A | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | decreases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| LDN 193189 | increases expression, affects cotreatment | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation | 1 |
| Arsenicals | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Furaldehyde | decreases expression, affects cotreatment, affects localization | 1 |
| Ivermectin | decreases expression | 1 |
| Ozone | increases oxidation, affects cotreatment | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | decreases expression | 1 |
| Selenium | decreases expression | 1 |
| Sodium Chloride | affects cotreatment, affects localization, decreases expression, increases expression | 1 |
| Tetrachlorodibenzodioxin | increases expression | 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 |
|---|---|---|---|
| CHEMBL5651717 | Binding | Binding affinity to human LUC7L2 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3AD | Abcam HEK293T LUC7L2 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.