LARP1B
gene geneOn this page
Also known as FLJ10378DKFZp434K245DKFZp686E0316
Summary
LARP1B (La ribonucleoprotein 1B, HGNC:24704) is a protein-coding gene on chromosome 4q28.2, encoding La-related protein 1B (Q659C4).
This gene encodes a protein containing domains found in the La related protein of Drosophila melanogaster. La motif-containing proteins are thought to be RNA-binding proteins, where the La motif and adjacent amino acids fold into an RNA recognition motif. The La motif is also found in proteins unrelated to the La protein. Alternative splicing has been observed at this locus and multiple variants, encoding distinct isoforms, are described. Additional splice variation has been identified but the full-length nature of these transcripts has not been determined.
Source: NCBI Gene 55132 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 158 total
- MANE Select transcript:
NM_018078
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24704 |
| Approved symbol | LARP1B |
| Name | La ribonucleoprotein 1B |
| Location | 4q28.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10378, DKFZp434K245, DKFZp686E0316 |
| Ensembl gene | ENSG00000138709 |
| Ensembl biotype | protein_coding |
| OMIM | 620467 |
| Entrez | 55132 |
Gene structure
Transcript identifiers
Ensembl transcripts: 30 — 25 protein_coding, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000326639, ENST00000394288, ENST00000432347, ENST00000503725, ENST00000506199, ENST00000507259, ENST00000507377, ENST00000508648, ENST00000508819, ENST00000512292, ENST00000648358, ENST00000649983, ENST00000650359, ENST00000704292, ENST00000704293, ENST00000899913, ENST00000899914, ENST00000899915, ENST00000899916, ENST00000899917, ENST00000899918, ENST00000899919, ENST00000899920, ENST00000899921, ENST00000917667, ENST00000917668, ENST00000917669, ENST00000952429, ENST00000952430, ENST00000952431
RefSeq mRNA: 6 — MANE Select: NM_018078
NM_001278604, NM_001350531, NM_001410786, NM_018078, NM_032239, NM_178043
CCDS: CCDS3738, CCDS47133, CCDS64057, CCDS93633
Canonical transcript exons
ENST00000326639 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001249220 | 128074460 | 128074518 |
| ENSE00001818636 | 128209856 | 128211988 |
| ENSE00002037457 | 128061312 | 128061401 |
| ENSE00003459303 | 128082165 | 128082305 |
| ENSE00003463054 | 128176872 | 128176907 |
| ENSE00003463427 | 128200521 | 128200665 |
| ENSE00003480408 | 128121826 | 128122188 |
| ENSE00003481638 | 128207256 | 128207383 |
| ENSE00003495631 | 128199439 | 128199599 |
| ENSE00003503717 | 128178431 | 128178642 |
| ENSE00003504100 | 128179406 | 128179512 |
| ENSE00003526995 | 128074934 | 128074993 |
| ENSE00003548310 | 128098186 | 128098330 |
| ENSE00003582489 | 128107139 | 128107313 |
| ENSE00003588492 | 128162194 | 128162317 |
| ENSE00003620489 | 128077788 | 128077962 |
| ENSE00003649980 | 128114570 | 128114742 |
| ENSE00003669622 | 128091347 | 128091512 |
| ENSE00003674312 | 128206428 | 128206537 |
| ENSE00003689147 | 128091001 | 128091144 |
Expression profiles
Bgee: expression breadth ubiquitous, 252 present calls, max score 94.74.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.5681 / max 545.6951, expressed in 1811 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 49619 | 17.3386 | 1803 |
| 49620 | 5.1731 | 1570 |
| 49622 | 0.4114 | 147 |
| 49618 | 0.3247 | 121 |
| 49616 | 0.1173 | 54 |
| 49617 | 0.0841 | 37 |
| 49615 | 0.0742 | 36 |
| 49621 | 0.0211 | 4 |
| 49625 | 0.0199 | 3 |
| 49626 | 0.0036 | 1 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 94.74 | gold quality |
| sperm | CL:0000019 | 94.19 | gold quality |
| body of pancreas | UBERON:0001150 | 93.81 | gold quality |
| left testis | UBERON:0004533 | 92.88 | gold quality |
| right testis | UBERON:0004534 | 92.51 | gold quality |
| right lobe of liver | UBERON:0001114 | 92.39 | gold quality |
| pancreas | UBERON:0001264 | 92.14 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 91.83 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.49 | gold quality |
| testis | UBERON:0000473 | 91.38 | gold quality |
| oocyte | CL:0000023 | 90.81 | gold quality |
| liver | UBERON:0002107 | 90.59 | gold quality |
| islet of Langerhans | UBERON:0000006 | 90.46 | gold quality |
| bone marrow cell | CL:0002092 | 90.21 | gold quality |
| tendon | UBERON:0000043 | 89.67 | gold quality |
| oviduct epithelium | UBERON:0004804 | 87.70 | gold quality |
| rectum | UBERON:0001052 | 87.58 | gold quality |
| gastrocnemius | UBERON:0001388 | 87.12 | gold quality |
| sural nerve | UBERON:0015488 | 87.03 | gold quality |
| colonic epithelium | UBERON:0000397 | 86.81 | gold quality |
| muscle of leg | UBERON:0001383 | 86.64 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.53 | gold quality |
| corpus epididymis | UBERON:0004359 | 86.00 | gold quality |
| ventricular zone | UBERON:0003053 | 85.79 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.65 | gold quality |
| tibial artery | UBERON:0007610 | 85.51 | gold quality |
| popliteal artery | UBERON:0002250 | 85.50 | gold quality |
| body of stomach | UBERON:0001161 | 84.91 | gold quality |
| buccal mucosa cell | CL:0002336 | 84.65 | silver quality |
| left ventricle myocardium | UBERON:0006566 | 84.59 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 15.14 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
77 targeting LARP1B, 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-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302B-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302C-3P | 99.89 | 71.20 | 1778 |
| HSA-MIR-302D-3P | 99.89 | 71.25 | 1777 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-373-3P | 99.84 | 70.68 | 1668 |
| HSA-MIR-520E-3P | 99.84 | 70.55 | 1698 |
| HSA-MIR-372-3P | 99.83 | 70.58 | 1691 |
| HSA-MIR-520A-3P | 99.83 | 70.59 | 1687 |
| HSA-MIR-520B-3P | 99.83 | 70.56 | 1699 |
| HSA-MIR-520C-3P | 99.83 | 70.56 | 1699 |
| HSA-MIR-520D-3P | 99.83 | 70.78 | 1676 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-520F-3P | 99.82 | 71.32 | 1216 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
Literature-anchored findings (GeneRIF, showing 2)
- Review discusses the La motif, found in this protein. (PMID:12045101)
- The promoter of the gene of La ribonucleoprotein domain family (LARP2) was significantly hypermethylated in beta-thalassemia, and the expression of LARP2 was significantly lower in beta-thalassemia. (PMID:22327645)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | larp1b | ENSDARG00000061169 |
| mus_musculus | Larp1b | ENSMUSG00000025762 |
| rattus_norvegicus | Larp1bl | ENSRNOG00000013940 |
| rattus_norvegicus | Larp1b | ENSRNOG00000038366 |
| drosophila_melanogaster | Larp4B | FBGN0035424 |
| drosophila_melanogaster | larp | FBGN0261618 |
| caenorhabditis_elegans | larp-5 | WBGENE00004147 |
| caenorhabditis_elegans | WBGENE00020097 |
Paralogs (6): LARP4B (ENSG00000107929), SSB (ENSG00000138385), LARP1 (ENSG00000155506), LARP4 (ENSG00000161813), LARP6 (ENSG00000166173), LARP7 (ENSG00000174720)
Protein
Protein identifiers
La-related protein 1B — Q659C4 (reviewed: Q659C4)
Alternative names: La ribonucleoprotein domain family member 1B, La ribonucleoprotein domain family member 2, La-related protein 2
All UniProt accessions (10): A0A3B3ISF0, A0A3B3IT29, A0A994J4H9, A0A994J4X5, D6R9W6, D6RJB0, Q659C4, G3V0E9, H0Y9B4, H0Y9K3
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the LARP family.
Isoforms (9)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q659C4-1 | 1 | yes |
| Q659C4-2 | 2 | |
| Q659C4-3 | 3 | |
| Q659C4-4 | 4 | |
| Q659C4-5 | 5 | |
| Q659C4-6 | 6 | |
| Q659C4-7 | 7 | |
| Q659C4-8 | 8 | |
| Q659C4-9 | 9 |
RefSeq proteins (6): NP_001265533, NP_001337460, NP_001397715, NP_060548, NP_115615, NP_835144 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006607 | DM15 | Repeat |
| IPR006630 | La_HTH | Domain |
| IPR036388 | WH-like_DNA-bd_sf | Homologous_superfamily |
| IPR036390 | WH_DNA-bd_sf | Homologous_superfamily |
| IPR045180 | La_dom_prot | Family |
Pfam: PF05383, PF21071
UniProt features (51 total): splice variant 16, compositionally biased region 11, modified residue 10, sequence conflict 6, region of interest 4, sequence variant 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q659C4-F1 | 56.94 | 0.14 |
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 (10): 60, 327, 329, 335, 340, 343, 427, 432, 436, 454
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 118 (showing top):
RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GCANCTGNY_MYOD_Q6, AREB6_03, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, MYOD_01, GOBP_REGULATION_OF_CATABOLIC_PROCESS, MYOD_Q6, AACTTT_UNKNOWN, MORI_PLASMA_CELL_UP, TAATGTG_MIR323, E12_Q6
GO Biological Process (2): positive regulation of translation (GO:0045727), mRNA stabilization (GO:0048255)
GO Molecular Function (3): RNA cap binding (GO:0000339), RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), cytosol (GO:0005829), cytoplasmic stress granule (GO:0010494), ribonucleoprotein complex (GO:1990904)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| translation | 1 |
| regulation of translation | 1 |
| positive regulation of gene expression | 1 |
| positive regulation of protein metabolic process | 1 |
| regulation of mRNA stability | 1 |
| RNA stabilization | 1 |
| negative regulation of mRNA catabolic process | 1 |
| RNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
| cytoplasmic ribonucleoprotein granule | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1490 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LARP1B | PGRMC2 | O15173 | 545 |
| LARP1B | AGO2 | Q9UKV8 | 462 |
| LARP1B | SYNDIG1L | A6NDD5 | 454 |
| LARP1B | SPMIP10 | Q6ZNM6 | 447 |
| LARP1B | EDRF1 | Q3B7T1 | 440 |
| LARP1B | ABHD18 | Q0P651 | 436 |
| LARP1B | SLC25A31 | Q9H0C2 | 426 |
| LARP1B | CYB5D2 | Q8WUJ1 | 417 |
| LARP1B | KRT77 | Q7Z794 | 407 |
| LARP1B | JADE1 | Q6IE81 | 395 |
| LARP1B | SH3RF3 | Q8TEJ3 | 393 |
| LARP1B | KIAA1210 | Q9ULL0 | 393 |
| LARP1B | ZCCHC13 | Q8WW36 | 387 |
| LARP1B | RRP12 | Q5JTH9 | 385 |
| LARP1B | GTF2A1 | P52655 | 381 |
IntAct
157 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| N | HNRNPR | psi-mi:“MI:0914”(association) | 0.730 |
| H2AX | PPM1G | psi-mi:“MI:0914”(association) | 0.730 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| LARP1B | KIF2A | psi-mi:“MI:0915”(physical association) | 0.560 |
| LARP1B | TRIM69 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIF2A | LARP1B | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM69 | LARP1B | psi-mi:“MI:0915”(physical association) | 0.560 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.550 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRNP70 | GTPBP1 | psi-mi:“MI:0914”(association) | 0.530 |
| ELAVL2 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| GSPT2 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| THAP3 | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| PAIP2B | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| ZFC3H1 | HNRNPCL1 | psi-mi:“MI:0914”(association) | 0.530 |
| IGF2BP3 | PTCD1 | psi-mi:“MI:0914”(association) | 0.530 |
| NIFK | RSL1D1 | psi-mi:“MI:0914”(association) | 0.530 |
| CCNI2 | HSPA8 | psi-mi:“MI:0914”(association) | 0.530 |
| ILF2 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| GSK3B | SEC16A | psi-mi:“MI:2364”(proximity) | 0.420 |
| LARP1B | H4C16 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FER1L5 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| LARP1B | POLR2J | psi-mi:“MI:0915”(physical association) | 0.370 |
| LARP1B | BKLF1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Rpl35 | RPS6 | psi-mi:“MI:0914”(association) | 0.350 |
| NP | KPNA4 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (176): LARP1B (Two-hybrid), TRIM69 (Two-hybrid), LARP1B (Affinity Capture-MS), LARP1B (Affinity Capture-MS), LARP1B (Affinity Capture-MS), LARP1B (Affinity Capture-MS), LARP1B (Affinity Capture-MS), LARP1B (Affinity Capture-MS), LARP1B (Affinity Capture-MS), LARP1B (Affinity Capture-MS), LARP1B (Proximity Label-MS), LARP1B (Two-hybrid), LARP1B (Affinity Capture-MS), LARP1B (Affinity Capture-MS), LARP1 (Affinity Capture-MS)
ESM2 similar proteins: A0A8M2, A0JMU8, A1L1K8, A5D7H5, B9DFV2, E1BUG7, F4JP52, G1SW77, G3X9Z4, O08719, O15234, O94913, Q0V898, Q1LVV0, Q2T9I5, Q32NW2, Q3MHF8, Q498K9, Q566L7, Q5CZI8, Q5JVS0, Q5R4R4, Q5T8P6, Q5TYQ8, Q659C4, Q68FI1, Q6AXS5, Q6NVR8, Q6NZN0, Q6PKG0, Q8AVJ2, Q8CGC4, Q8K2F8, Q8K3W3, Q8K3X0, Q8NC51, Q8ND56, Q91W18, Q91W39, Q96D71
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, Q940X9, P87058, Q04504, A8NS61, A8WLV5, B4NB54
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 154 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 | 6 | 26.9× | 7e-06 |
| RNA Polymerase II Transcription Termination | 6 | 15.5× | 1e-04 |
| Influenza Infection | 7 | 14.5× | 3e-05 |
| mRNA 3’-end processing | 6 | 13.9× | 2e-04 |
| Influenza Viral RNA Transcription and Replication | 5 | 12.7× | 1e-03 |
| Transport of Mature mRNA derived from an Intron-Containing Transcript | 7 | 12.5× | 7e-05 |
| SARS-CoV-1-host interactions | 6 | 12.4× | 3e-04 |
| mRNA Splicing | 9 | 11.6× | 7e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mRNA stabilization | 6 | 16.2× | 5e-04 |
| ribosomal small subunit biogenesis | 7 | 11.7× | 5e-04 |
| RNA processing | 7 | 11.3× | 5e-04 |
| regulation of alternative mRNA splicing, via spliceosome | 6 | 10.8× | 2e-03 |
| mRNA transport | 5 | 9.7× | 8e-03 |
| cytoplasmic translation | 7 | 9.5× | 1e-03 |
| rRNA processing | 7 | 7.3× | 3e-03 |
| RNA splicing | 9 | 5.8× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
158 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 130 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4362 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:128074458:A:AG | acceptor_gain | 1.0000 |
| 4:128074459:G:GG | acceptor_gain | 1.0000 |
| 4:128074514:ACAAG:A | donor_loss | 1.0000 |
| 4:128074515:CAAG:C | donor_loss | 1.0000 |
| 4:128074516:AAG:A | donor_loss | 1.0000 |
| 4:128074517:AGGT:A | donor_loss | 1.0000 |
| 4:128074518:GGT:G | donor_loss | 1.0000 |
| 4:128074519:G:C | donor_loss | 1.0000 |
| 4:128074520:T:G | donor_loss | 1.0000 |
| 4:128074933:GGCTA:G | acceptor_gain | 1.0000 |
| 4:128074989:CTGGA:C | donor_gain | 1.0000 |
| 4:128074990:TGGA:T | donor_gain | 1.0000 |
| 4:128074991:GGA:G | donor_gain | 1.0000 |
| 4:128074991:GGAG:G | donor_gain | 1.0000 |
| 4:128074992:GA:G | donor_gain | 1.0000 |
| 4:128074992:GAG:G | donor_gain | 1.0000 |
| 4:128074993:AG:A | donor_loss | 1.0000 |
| 4:128074994:G:GG | donor_gain | 1.0000 |
| 4:128074994:GT:G | donor_loss | 1.0000 |
| 4:128074995:TGAGT:T | donor_loss | 1.0000 |
| 4:128074996:G:GG | donor_loss | 1.0000 |
| 4:128074997:AG:A | donor_loss | 1.0000 |
| 4:128074998:G:T | donor_loss | 1.0000 |
| 4:128077783:T:A | acceptor_gain | 1.0000 |
| 4:128077786:A:AG | acceptor_gain | 1.0000 |
| 4:128077787:G:GT | acceptor_gain | 1.0000 |
| 4:128077787:GT:G | acceptor_gain | 1.0000 |
| 4:128077787:GTTT:G | acceptor_gain | 1.0000 |
| 4:128077787:GTTTC:G | acceptor_gain | 1.0000 |
| 4:128077954:G:GG | donor_gain | 1.0000 |
AlphaMissense
6041 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:128206451:G:T | R778M | 1.000 |
| 4:128207268:G:A | G811E | 1.000 |
| 4:128107208:T:A | W295R | 0.999 |
| 4:128107208:T:C | W295R | 0.999 |
| 4:128199537:T:C | L701P | 0.999 |
| 4:128199554:T:C | F707L | 0.999 |
| 4:128199555:T:C | F707S | 0.999 |
| 4:128199556:T:A | F707L | 0.999 |
| 4:128199556:T:G | F707L | 0.999 |
| 4:128200525:A:C | R723S | 0.999 |
| 4:128200525:A:T | R723S | 0.999 |
| 4:128200566:T:C | L737P | 0.999 |
| 4:128200577:T:A | W741R | 0.999 |
| 4:128200577:T:C | W741R | 0.999 |
| 4:128200590:T:A | L745H | 0.999 |
| 4:128200590:T:C | L745P | 0.999 |
| 4:128200594:A:C | R746S | 0.999 |
| 4:128200594:A:T | R746S | 0.999 |
| 4:128200625:T:C | F757L | 0.999 |
| 4:128200626:T:C | F757S | 0.999 |
| 4:128200627:T:A | F757L | 0.999 |
| 4:128200627:T:G | F757L | 0.999 |
| 4:128200638:C:A | A761D | 0.999 |
| 4:128200665:G:T | R770M | 0.999 |
| 4:128206432:G:T | G772W | 0.999 |
| 4:128206433:G:A | G772E | 0.999 |
| 4:128206441:T:C | C775R | 0.999 |
| 4:128206443:T:G | C775W | 0.999 |
| 4:128206445:T:C | L776P | 0.999 |
| 4:128206447:T:C | F777L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000011941 (4:128095754 C>G), RS1000022508 (4:128082029 T>C), RS1000048762 (4:128124152 G>A), RS1000068431 (4:128136603 A>G), RS10000748 (4:128161336 T>A,C,G), RS1000082977 (4:128110469 C>G,T), RS1000090625 (4:128186112 A>G), RS1000094891 (4:128104987 C>T), RS10000960 (4:128161578 T>A,C,G), RS10001048 (4:128161666 T>A,C), RS1000108591 (4:128100782 GTCTTTTCATTT>G), RS1000109381 (4:128070156 A>C), RS1000134614 (4:128195856 A>C,G), RS1000149104 (4:128181486 T>A), RS1000182107 (4:128181054 C>T)
Disease associations
OMIM: gene MIM:620467 | disease phenotypes: MIM:610951
GenCC curated gene-disease
Mondo (2): neuronal ceroid lipofuscinosis 7 (MONDO:0012588), prostate cancer (MONDO:0008315)
Orphanet (3): OBSOLETE: Late infantile neuronal ceroid lipofuscinosis (Orphanet:168491), CLN7 disease (Orphanet:228366), Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90002390_221 | Mean corpuscular hemoglobin | 3.000000e-27 |
| GCST90002392_668 | Mean corpuscular volume | 8.000000e-25 |
| GCST90002397_22 | Mean spheric corpuscular volume | 1.000000e-10 |
| GCST90011900_90 | Serum alkaline phosphatase levels | 1.000000e-13 |
| GCST90013406_35 | Liver enzyme levels (alkaline phosphatase) | 8.000000e-15 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0004533 | alkaline phosphatase measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
| C563989 | Ceroid Lipofuscinosis, Neuronal, 7 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs4834232 | LARP1B | 0.00 | 0 |
CTD chemical–gene interactions
64 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, increases methylation, affects cotreatment, increases expression, affects expression | 6 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 5 |
| Cyclosporine | increases expression | 4 |
| bisphenol A | affects expression, affects methylation | 2 |
| trichostatin A | affects expression, increases expression | 2 |
| Air Pollutants | affects expression, increases abundance, increases expression | 2 |
| Arsenic | increases abundance, increases expression, decreases expression | 2 |
| Benzo(a)pyrene | decreases methylation, affects methylation, decreases expression | 2 |
| Estradiol | affects expression, increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| geldanamycin | increases expression | 1 |
| bufotalin | decreases expression | 1 |
| lead acetate | affects cotreatment, decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| zinc protoporphyrin | affects cotreatment, decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| K 7174 | increases expression | 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 |
| abrine | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | decreases expression, affects cotreatment | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): neuronal ceroid lipofuscinosis 7