LARP6
gene geneOn this page
Also known as acheronFLJ11196
Summary
LARP6 (La ribonucleoprotein 6, translational regulator, HGNC:24012) is a protein-coding gene on chromosome 15q23, encoding La-related protein 6 (Q9BRS8). Regulates the coordinated translation of type I collagen alpha-1 and alpha-2 mRNAs, CO1A1 and CO1A2.
Enables RNA binding activity and myosin binding activity. Involved in positive regulation of collagen biosynthetic process. Located in cytoplasm and nucleus.
Source: NCBI Gene 55323 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 81 total
- Druggable target: yes
- MANE Select transcript:
NM_018357
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24012 |
| Approved symbol | LARP6 |
| Name | La ribonucleoprotein 6, translational regulator |
| Location | 15q23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | acheron, FLJ11196 |
| Ensembl gene | ENSG00000166173 |
| Ensembl biotype | protein_coding |
| OMIM | 611300 |
| Entrez | 55323 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000299213, ENST00000344870, ENST00000559140, ENST00000559316, ENST00000560052
RefSeq mRNA: 2 — MANE Select: NM_018357
NM_018357, NM_197958
CCDS: CCDS10236, CCDS32281
Canonical transcript exons
ENST00000299213 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001100511 | 70853889 | 70854157 |
| ENSE00001122584 | 70829130 | 70833116 |
| ENSE00003520649 | 70836295 | 70836505 |
Expression profiles
Bgee: expression breadth ubiquitous, 265 present calls, max score 98.11.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 68.1071 / max 600.0407, expressed in 1474 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 150738 | 59.6324 | 1474 |
| 150737 | 6.3826 | 1292 |
| 150736 | 1.4889 | 774 |
| 150739 | 0.5107 | 303 |
| 150735 | 0.0507 | 5 |
| 150734 | 0.0418 | 4 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lateral globus pallidus | UBERON:0002476 | 98.11 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 97.66 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.61 | gold quality |
| left testis | UBERON:0004533 | 97.55 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 97.33 | gold quality |
| right testis | UBERON:0004534 | 97.25 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 97.16 | gold quality |
| spinal cord | UBERON:0002240 | 96.82 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 96.79 | gold quality |
| inferior olivary complex | UBERON:0002127 | 96.56 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 96.32 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 96.00 | gold quality |
| medulla oblongata | UBERON:0001896 | 95.97 | gold quality |
| pons | UBERON:0000988 | 95.92 | gold quality |
| putamen | UBERON:0001874 | 95.74 | gold quality |
| ventral tegmental area | UBERON:0002691 | 95.73 | gold quality |
| sperm | CL:0000019 | 95.61 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 95.58 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 95.57 | gold quality |
| testis | UBERON:0000473 | 95.38 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 95.25 | gold quality |
| midbrain | UBERON:0001891 | 95.23 | gold quality |
| substantia nigra | UBERON:0002038 | 95.14 | gold quality |
| prefrontal cortex | UBERON:0000451 | 95.13 | gold quality |
| stromal cell of endometrium | CL:0002255 | 95.06 | gold quality |
| corpus callosum | UBERON:0002336 | 94.97 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 94.56 | gold quality |
| Ammon’s horn | UBERON:0001954 | 94.48 | gold quality |
| caudate nucleus | UBERON:0001873 | 94.29 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 94.29 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9435 | yes | 1081.94 |
| E-HCAD-13 | yes | 24.99 |
| E-ANND-3 | yes | 20.19 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
28 targeting LARP6, 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-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-6772-5P | 99.94 | 67.01 | 577 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-609 | 99.82 | 64.26 | 505 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-7515 | 99.31 | 68.22 | 1795 |
| HSA-MIR-133A-3P | 99.27 | 71.53 | 1270 |
| HSA-MIR-133B | 99.27 | 71.53 | 1270 |
| HSA-MIR-10399-5P | 99.17 | 69.87 | 2610 |
| HSA-MIR-6504-3P | 99.17 | 69.31 | 2891 |
| HSA-MIR-6715B-3P | 98.80 | 68.07 | 1204 |
| HSA-MIR-876-3P | 98.76 | 68.23 | 945 |
| HSA-MIR-5197-3P | 98.71 | 67.05 | 1905 |
| HSA-MIR-4704-3P | 98.28 | 69.33 | 1300 |
| HSA-MIR-643 | 97.35 | 67.91 | 805 |
| HSA-MIR-215-3P | 97.02 | 68.01 | 1209 |
| HSA-MIR-6854-5P | 96.77 | 65.96 | 848 |
| HSA-MIR-4264 | 96.35 | 64.76 | 1480 |
| HSA-MIR-3677-5P | 93.16 | 64.62 | 393 |
| HSA-MIR-126-3P | 91.07 | 64.87 | 22 |
Literature-anchored findings (GeneRIF, showing 16)
- These data define Achn as a newly discovered regulatory molecule that presumably mediates a variety of developmental and homeostatic processes in animals. (PMID:17383118)
- Acheron may influence differentiation in part via its control of cell adhesion dynamics. (PMID:19889961)
- LARP6 has a distinctive bipartite RNA binding domain not found in other members of the La superfamily. LARP6 interacts with the two single-stranded regions of the 5’ stem-loop. (PMID:19917293)
- Achn enhances human breast tumor growth and vascularization and that this activity is dependent on nuclear localization. (PMID:21387291)
- Acheron regulates vascular endothelial proliferation and angiogenesis together with Id1 during wound healing. (PMID:22139627)
- The results demonstrate that the La modules of the human LARP6 is also active in tRNA-mediated suppression, even in the absence of stable UUU-3’OH trailer protection. (PMID:23887937)
- LARP6 is a critical mediator by which IGF-1 augments synthesis of collagen type I in vascular smooth muscle (PMID:24469459)
- We postulate that collagen mRNAs directly partition to the endoplasmic reticulum membrane prior to synthesis of the signal peptide and that LARP6 and nonmuscle myosin filaments mediate this process. (PMID:25271881)
- The study presents the structure of the La motif and RRM1 of human LARP6 uncovering in both cases considerable structural variation in comparison to the equivalent domains in La and revealing an unprecedented fold for the RRM1. (PMID:25488812)
- Data indicate that LA motif protein LARP6 binding to spliced leader RNA (5’SL) of collagen alpha2(I) mRNA is more stable than the binding to 5’SL of alpha1(I) mRNA. (PMID:25692237)
- Akt mediated phosphorylation of LARP6; critical step in biosynthesis of type I collagen (PMID:26932461)
- Study shows that mTORC1 phosphorylates La ribonucleoprotein domain family, member 6 to stimulate type I collagen expression. (PMID:28112218)
- A cytoplasmic isoform of La protein as well as LARPs 6, 4, and 1 function in mRNA metabolism and translation in distinct but similar ways, sometimes with the poly(A)-binding protein, and in some cases by direct binding to poly(A)-RNA. (PMID:28782243)
- Characterization of Sequence-Specific Binding of LARP6 to the 5’ Stem-Loop of Type I Collagen mRNAs and Implications for Rational Design of Antifibrotic Drugs. (PMID:34896113)
- LARP6 Regulates Keloid Fibroblast Proliferation, Invasion, and Ability to Synthesize Collagen. (PMID:35176288)
- LARP6 suppresses colorectal cancer progression through ZNF267/SGMS2-mediated imbalance of sphingomyelin synthesis. (PMID:36691044)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | larp6a | ENSDARG00000005355 |
| mus_musculus | Larp6 | ENSMUSG00000034839 |
| rattus_norvegicus | Larp6 | ENSRNOG00000012438 |
| drosophila_melanogaster | Larp4B | FBGN0035424 |
| drosophila_melanogaster | larp | FBGN0261618 |
| caenorhabditis_elegans | larp-5 | WBGENE00004147 |
| caenorhabditis_elegans | WBGENE00020097 |
Paralogs (6): LARP4B (ENSG00000107929), SSB (ENSG00000138385), LARP1B (ENSG00000138709), LARP1 (ENSG00000155506), LARP4 (ENSG00000161813), LARP7 (ENSG00000174720)
Protein
Protein identifiers
La-related protein 6 — Q9BRS8 (reviewed: Q9BRS8)
Alternative names: Acheron, La ribonucleoprotein domain family member 6
All UniProt accessions (3): Q9BRS8, H0YMC6, K7EPD2
UniProt curated annotations — full annotation on UniProt →
Function. Regulates the coordinated translation of type I collagen alpha-1 and alpha-2 mRNAs, CO1A1 and CO1A2. Stabilizes mRNAs through high-affinity binding of a stem-loop structure in their 5’ UTR. This regulation requires VIM and MYH10 filaments, and the helicase DHX9.
Subunit / interactions. Interacts (via the HTH domain) with VIM/vimentin. Interacts (via C-terminus) with non-muscle myosin MYH10. Interacts (via C-terminus) with DHX9.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Expressed in numerous tissues.
Domain organisation. The RRM domain mediates the association with collagen mRNAs stem-loops.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BRS8-1 | 1 | yes |
| Q9BRS8-2 | 2 |
RefSeq proteins (2): NP_060827, NP_932062 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002344 | Lupus_La | Family |
| IPR006630 | La_HTH | Domain |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR024642 | SUZ-C | Domain |
| IPR034880 | LARP6_RRM | Domain |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
| IPR036388 | WH-like_DNA-bd_sf | Homologous_superfamily |
| IPR036390 | WH_DNA-bd_sf | Homologous_superfamily |
| IPR045180 | La_dom_prot | Family |
Pfam: PF05383, PF12901
UniProt features (44 total): strand 8, helix 8, turn 8, compositionally biased region 5, modified residue 3, domain 3, region of interest 3, short sequence motif 2, initiator methionine 1, chain 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2MTF | SOLUTION NMR | |
| 2MTG | SOLUTION NMR | |
| 9NGX | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BRS8-F1 | 61.16 | 0.12 |
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): 2, 56, 58
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 109 (showing top):
BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, MENSE_HYPOXIA_UP, DITTMER_PTHLH_TARGETS_UP, MODULE_493, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM6, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, BASAKI_YBX1_TARGETS_UP, DOUGLAS_BMI1_TARGETS_UP, chr15q23, VECCHI_GASTRIC_CANCER_EARLY_DN, HAN_SATB1_TARGETS_DN, LIEN_BREAST_CARCINOMA_METAPLASTIC_VS_DUCTAL_UP
GO Biological Process (3): RNA processing (GO:0006396), regulation of translation (GO:0006417), positive regulation of collagen biosynthetic process (GO:0032967)
GO Molecular Function (8): mRNA binding (GO:0003729), myosin binding (GO:0017022), RNA stem-loop binding (GO:0035613), mRNA 5’-UTR binding (GO:0048027), sequence-specific mRNA binding (GO:1990825), nucleic acid binding (GO:0003676), RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), ribonucleoprotein complex (GO:1990904)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA binding | 2 |
| mRNA binding | 2 |
| binding | 2 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| primary metabolic process | 1 |
| translation | 1 |
| post-transcriptional regulation of gene expression | 1 |
| regulation of protein metabolic process | 1 |
| positive regulation of biosynthetic process | 1 |
| positive regulation of collagen metabolic process | 1 |
| collagen biosynthetic process | 1 |
| regulation of collagen biosynthetic process | 1 |
| cytoskeletal protein binding | 1 |
| nucleic acid binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
576 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LARP6 | LARP4B | Q92615 | 742 |
| LARP6 | LARP4 | Q71RC2 | 725 |
| LARP6 | STRAP | Q9Y3F4 | 618 |
| LARP6 | DHX9 | Q08211 | 606 |
| LARP6 | TM2D3 | Q9BRN9 | 514 |
| LARP6 | CSDE1 | O75534 | 491 |
| LARP6 | MAB21L3 | Q8N8X9 | 488 |
| LARP6 | PABPC1 | P11940 | 470 |
| LARP6 | FKBP3 | Q00688 | 460 |
| LARP6 | NKX6-3 | A6NJ46 | 444 |
| LARP6 | GMNC | A6NCL1 | 436 |
| LARP6 | ODAD4 | Q96NG3 | 434 |
| LARP6 | SLC35D3 | Q5M8T2 | 433 |
| LARP6 | SLC30A8 | Q8IWU4 | 424 |
| LARP6 | LRRC49 | Q8IUZ0 | 418 |
| LARP6 | PEX5L | Q8IYB4 | 418 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STRAP | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.530 |
| STRAP | GEMIN2 | psi-mi:“MI:0914”(association) | 0.350 |
| ADARB1 | LARP6 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (14): LARP6 (Affinity Capture-MS), LARP6 (Protein-RNA), LARP6 (Protein-RNA), LARP6 (Proximity Label-MS), LARP6 (Affinity Capture-MS), LARP6 (Reconstituted Complex), LARP6 (Two-hybrid), ITSN2 (Cross-Linking-MS (XL-MS)), DNAJC11 (Cross-Linking-MS (XL-MS)), DNAJC18 (Cross-Linking-MS (XL-MS)), LARP6 (Cross-Linking-MS (XL-MS)), LARP6 (Cross-Linking-MS (XL-MS)), LARP6 (Two-hybrid), APP (Reconstituted Complex)
ESM2 similar proteins: A0JNJ1, A5PMU4, A6QQV9, A7E3S4, D4AB98, F7EL49, P15056, P34908, P59672, P97306, Q04982, Q13905, Q15678, Q16825, Q5F488, Q5TCQ9, Q5TCZ1, Q62130, Q62136, Q62728, Q6DD51, Q6H8Q1, Q6KC51, Q6P9K8, Q6ZMT1, Q80T23, Q80YS6, Q812E4, Q8BL65, Q8BN59, Q8BZ71, Q8BZI0, Q8N556, Q8R1B0, Q8TDW5, Q8TED9, Q8TEW8, Q8VH46, Q8VHK2, Q8WXD9
Diamond homologs: D5MCN2, J9VT60, O80567, P05455, P10881, P25567, P28048, P28049, P32067, P33399, P38656, P40796, Q05CL8, Q12034, Q26457, Q28G87, Q4G0J3, Q4R627, Q5XI01, Q659C4, Q6PKG0, Q6ZQ58, Q71RC2, Q7ZWE3, Q8BN59, Q8BWW4, Q8RWR2, Q94A38, Q94K80, Q9BRS8, Q9I7T7, Q9LHL3, Q9P6K0, Q9VAW5, P87058, Q04504, Q940X9, Q0V7U7, Q93ZV7, Q6A0A2
SIGNOR signaling
6 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| LARP6 | “up-regulates activity” | DHX9 | binding |
| AKT | “up-regulates activity” | LARP6 | phosphorylation |
| AKT1 | “up-regulates activity” | LARP6 | phosphorylation |
| VIM | “up-regulates activity” | LARP6 | binding |
| MTOR | “up-regulates activity” | LARP6 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
81 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 76 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
331 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:70833117:C:CA | acceptor_loss | 1.0000 |
| 15:70833118:T:A | acceptor_loss | 1.0000 |
| 15:70836291:TCA:T | donor_loss | 1.0000 |
| 15:70836292:CACC:C | donor_loss | 1.0000 |
| 15:70836293:A:AT | donor_loss | 1.0000 |
| 15:70836294:CCTTT:C | donor_loss | 1.0000 |
| 15:70836501:TGCCA:T | acceptor_gain | 1.0000 |
| 15:70836502:GCCA:G | acceptor_gain | 1.0000 |
| 15:70836503:CCA:C | acceptor_gain | 1.0000 |
| 15:70836503:CCAC:C | acceptor_gain | 1.0000 |
| 15:70836504:CA:C | acceptor_gain | 1.0000 |
| 15:70836504:CAC:C | acceptor_gain | 1.0000 |
| 15:70836505:ACTGA:A | acceptor_loss | 1.0000 |
| 15:70836506:C:CC | acceptor_gain | 1.0000 |
| 15:70836506:CTGA:C | acceptor_loss | 1.0000 |
| 15:70836513:C:CT | acceptor_gain | 1.0000 |
| 15:70836513:C:T | acceptor_gain | 1.0000 |
| 15:70836514:A:T | acceptor_gain | 1.0000 |
| 15:70833114:CAC:C | acceptor_gain | 0.9900 |
| 15:70833117:C:CC | acceptor_gain | 0.9900 |
| 15:70836328:A:C | donor_gain | 0.9900 |
| 15:70836345:T:TA | donor_gain | 0.9900 |
| 15:70853886:TA:T | donor_loss | 0.9900 |
| 15:70853888:C:CA | donor_loss | 0.9900 |
| 15:70853991:T:TA | donor_gain | 0.9900 |
| 15:70833113:TCAC:T | acceptor_gain | 0.9800 |
| 15:70833114:CACC:C | acceptor_gain | 0.9800 |
| 15:70833120:C:CT | acceptor_gain | 0.9800 |
| 15:70833121:A:T | acceptor_gain | 0.9800 |
| 15:70836293:A:AC | donor_gain | 0.9800 |
AlphaMissense
3244 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:70833021:C:A | R169S | 1.000 |
| 15:70833021:C:G | R169S | 1.000 |
| 15:70833022:C:A | R169M | 1.000 |
| 15:70833022:C:G | R169T | 1.000 |
| 15:70833055:A:T | L158H | 1.000 |
| 15:70833073:A:C | L152W | 1.000 |
| 15:70833076:G:T | A151D | 1.000 |
| 15:70833095:A:G | W145R | 1.000 |
| 15:70833095:A:T | W145R | 1.000 |
| 15:70833111:T:A | K139N | 1.000 |
| 15:70833111:T:G | K139N | 1.000 |
| 15:70833113:T:C | K139E | 1.000 |
| 15:70836302:A:G | F135S | 1.000 |
| 15:70836311:A:G | L132P | 1.000 |
| 15:70836311:A:T | L132H | 1.000 |
| 15:70836314:A:G | L131P | 1.000 |
| 15:70836314:A:T | L131Q | 1.000 |
| 15:70836316:C:A | K130N | 1.000 |
| 15:70836316:C:G | K130N | 1.000 |
| 15:70836318:T:C | K130E | 1.000 |
| 15:70836320:A:T | V129D | 1.000 |
| 15:70836322:G:C | S128R | 1.000 |
| 15:70836322:G:T | S128R | 1.000 |
| 15:70836324:T:G | S128R | 1.000 |
| 15:70836326:A:T | V127E | 1.000 |
| 15:70836332:C:A | G125V | 1.000 |
| 15:70836332:C:T | G125E | 1.000 |
| 15:70836333:C:G | G125R | 1.000 |
| 15:70836333:C:T | G125R | 1.000 |
| 15:70836343:C:A | R121S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000144874 (15:70855394 T>G), RS1000205198 (15:70847955 A>G), RS1000239839 (15:70841014 T>C), RS1000337405 (15:70834048 G>A,C), RS1000390085 (15:70834419 G>A,T), RS1000429168 (15:70837672 T>A), RS1000495710 (15:70855097 G>A), RS1000592140 (15:70840713 A>G), RS1000626345 (15:70843719 G>C), RS1000669889 (15:70849562 A>T), RS1000980316 (15:70846274 T>C), RS1001056340 (15:70855776 G>C), RS1001095592 (15:70852932 G>A), RS1001183905 (15:70830386 A>C), RS1001353056 (15:70847233 T>C)
Disease associations
OMIM: gene MIM:611300 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001212_6 | Proinsulin levels | 2.000000e-10 |
| GCST009863_24 | Insulin-related traits (multivariate analysis) | 3.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004467 | insulin measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4739702 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
61 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 9 |
| Benzo(a)pyrene | increases expression, increases methylation | 4 |
| Cyclosporine | increases expression | 4 |
| sodium arsenite | decreases expression, increases expression | 3 |
| Acetaminophen | increases expression | 2 |
| Air Pollutants | increases abundance, increases expression, decreases expression | 2 |
| Cisplatin | affects expression, decreases expression | 2 |
| Dexamethasone | decreases expression, affects cotreatment | 2 |
| Nickel | decreases expression | 2 |
| Tunicamycin | increases expression | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| beta-lapachone | increases expression | 1 |
| methylparaben | increases expression | 1 |
| o,p’-DDT | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| CC-8490 | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
ChEMBL screening assays
5 unique, capped per target: 5 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4689799 | Binding | Inhibition of LARP6 La module (unknown origin) binding with collagen 5’ stem loop mRNA at > 2.5 uM by gel mobility shift assay | Discovery of a Lead Compound for Specific Inhibition of Type I Collagen Production in Fibrosis. — ACS Med Chem Lett |
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.