LRRC41
gene geneOn this page
Also known as MUF1
Summary
LRRC41 (leucine rich repeat containing 41, HGNC:16917) is a protein-coding gene on chromosome 1p34.1-p33, encoding Leucine-rich repeat-containing protein 41 (Q15345). Probable substrate recognition component of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
Predicted to enable identical protein binding activity. Predicted to be involved in protein ubiquitination. Located in membrane.
Source: NCBI Gene 10489 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 320 total — 2 likely-pathogenic
- MANE Select transcript:
NM_006369
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16917 |
| Approved symbol | LRRC41 |
| Name | leucine rich repeat containing 41 |
| Location | 1p34.1-p33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MUF1 |
| Ensembl gene | ENSG00000132128 |
| Ensembl biotype | protein_coding |
| OMIM | 618753 |
| Entrez | 10489 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 12 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000343304, ENST00000469150, ENST00000472710, ENST00000496156, ENST00000498402, ENST00000615587, ENST00000617190, ENST00000866618, ENST00000866619, ENST00000866620, ENST00000866621, ENST00000932747, ENST00000932748, ENST00000949329, ENST00000949330
RefSeq mRNA: 1 — MANE Select: NM_006369
NM_006369
CCDS: CCDS533
Canonical transcript exons
ENST00000617190 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001891163 | 46303124 | 46303616 |
| ENSE00003525800 | 46285362 | 46286499 |
| ENSE00003596247 | 46297563 | 46297633 |
| ENSE00003713599 | 46280192 | 46280290 |
| ENSE00003717153 | 46279182 | 46279257 |
| ENSE00003723151 | 46281125 | 46281385 |
| ENSE00003729312 | 46298284 | 46298370 |
| ENSE00003735550 | 46280396 | 46280560 |
| ENSE00003740610 | 46279492 | 46279614 |
| ENSE00003750750 | 46277462 | 46279084 |
Expression profiles
Bgee: expression breadth ubiquitous, 281 present calls, max score 94.66.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.5179 / max 292.0406, expressed in 1813 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 12175 | 20.0007 | 1792 |
| 12172 | 10.7791 | 1759 |
| 12176 | 7.2088 | 1759 |
| 12174 | 1.9825 | 1364 |
| 12173 | 0.9981 | 760 |
| 12178 | 0.9101 | 602 |
| 12177 | 0.4983 | 260 |
| 12171 | 0.1403 | 42 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 94.66 | gold quality |
| left uterine tube | UBERON:0001303 | 94.61 | gold quality |
| adenohypophysis | UBERON:0002196 | 94.61 | gold quality |
| stromal cell of endometrium | CL:0002255 | 94.57 | gold quality |
| right ovary | UBERON:0002118 | 94.45 | gold quality |
| body of uterus | UBERON:0009853 | 94.18 | gold quality |
| left ovary | UBERON:0002119 | 94.17 | gold quality |
| endocervix | UBERON:0000458 | 94.04 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 93.96 | gold quality |
| pituitary gland | UBERON:0000007 | 93.79 | gold quality |
| ectocervix | UBERON:0012249 | 93.75 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.63 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 93.60 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 93.59 | gold quality |
| lower esophagus | UBERON:0013473 | 93.58 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 93.52 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 93.52 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 93.49 | gold quality |
| left adrenal gland | UBERON:0001234 | 93.47 | gold quality |
| popliteal artery | UBERON:0002250 | 93.35 | gold quality |
| tibial artery | UBERON:0007610 | 93.35 | gold quality |
| mucosa of stomach | UBERON:0001199 | 93.34 | gold quality |
| apex of heart | UBERON:0002098 | 93.31 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 93.28 | gold quality |
| right coronary artery | UBERON:0001625 | 93.27 | gold quality |
| gastrocnemius | UBERON:0001388 | 93.26 | gold quality |
| adrenal cortex | UBERON:0001235 | 93.07 | gold quality |
| aorta | UBERON:0000947 | 93.01 | gold quality |
| ventricular zone | UBERON:0003053 | 92.99 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 92.98 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.59 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
41 targeting LRRC41, 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-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-659-3P | 99.85 | 70.69 | 1620 |
| HSA-MIR-6515-3P | 99.82 | 68.19 | 1933 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-148A-3P | 99.74 | 73.77 | 1700 |
| HSA-MIR-148B-3P | 99.74 | 73.75 | 1700 |
| HSA-MIR-152-3P | 99.74 | 73.75 | 1703 |
| HSA-MIR-378G | 99.71 | 64.90 | 1106 |
| HSA-MIR-548M | 99.70 | 68.87 | 1749 |
| HSA-MIR-488-3P | 99.61 | 68.79 | 1731 |
| HSA-MIR-6861-3P | 99.60 | 68.46 | 444 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-3136-3P | 99.57 | 66.59 | 781 |
| HSA-MIR-7155-3P | 99.57 | 66.48 | 794 |
| HSA-MIR-186-3P | 99.51 | 66.24 | 1685 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-6507-5P | 99.36 | 70.46 | 2524 |
| HSA-MIR-542-3P | 99.34 | 67.58 | 1270 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-1909-3P | 99.03 | 66.56 | 1662 |
| HSA-MIR-1294 | 98.91 | 69.26 | 1030 |
| HSA-MIR-9986 | 98.91 | 69.28 | 1024 |
| HSA-MIR-3922-5P | 98.77 | 66.53 | 1059 |
| HSA-MIR-7977 | 98.65 | 66.18 | 2590 |
| HSA-MIR-9500 | 98.62 | 66.54 | 1845 |
| HSA-MIR-3187-5P | 98.36 | 65.74 | 1776 |
| HSA-MIR-92A-1-5P | 98.28 | 64.51 | 631 |
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lrrc41 | ENSDARG00000096306 |
| mus_musculus | Lrrc41 | ENSMUSG00000028703 |
| rattus_norvegicus | Lrrc41 | ENSRNOG00000013642 |
Protein
Protein identifiers
Leucine-rich repeat-containing protein 41 — Q15345 (reviewed: Q15345)
Alternative names: Protein Muf1
All UniProt accessions (5): Q15345, A0A087WTI9, A0A087WTU1, A0A087X0S7, A0A0B4J2G4
UniProt curated annotations — full annotation on UniProt →
Function. Probable substrate recognition component of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
Subunit / interactions. Part of an E3 ubiquitin-protein ligase complex with Elongin BC (ELOB and ELOC), RBX1 and CUL5. Component of a probable ECS(LRRC41) complex which contains CUL5, RNF7/RBX2, Elongin BC and LRRC41. Interacts with CUL5, RNF7, ELOB and ELOC.
Domain organisation. The Elongin BC complex binding domain is also known as BC-box with the consensus [APST]-L-x(3)-C-x(3)-[AILV].
Pathway. Protein modification; protein ubiquitination.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q15345-2 | 2 | yes |
| Q15345-3 | 3 |
RefSeq proteins (1): NP_006360* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026137 | Leu_rpt_41 | Family |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
UniProt features (24 total): repeat 7, modified residue 6, sequence conflict 3, compositionally biased region 2, splice variant 2, region of interest 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q15345-F1 | 71.96 | 0.30 |
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 (6): 155, 276, 326, 327, 357, 373
Function
Pathways and Gene Ontology
Reactome pathways
10 pathways
| ID | Pathway |
|---|---|
| R-HSA-8951664 | Neddylation |
| R-HSA-9706019 | RHOBTB3 ATPase cycle |
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-162582 | Signal Transduction |
| R-HSA-168256 | Immune System |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-597592 | Post-translational protein modification |
| R-HSA-9716542 | Signaling by Rho GTPases, Miro GTPases and RHOBTB3 |
| R-HSA-983169 | Class I MHC mediated antigen processing & presentation |
MSigDB gene sets: 161 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, CCAWYNNGAAR_UNKNOWN, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, TGACCTY_ERR1_Q2, YY1_Q6, WANG_LMO4_TARGETS_DN, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, ELK1_01, NRF2_01, NERF_Q2, CETS1P54_01
GO Biological Process (1): protein ubiquitination (GO:0016567)
GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 1 |
| Class I MHC mediated antigen processing & presentation | 1 |
| Immune System | 1 |
| Metabolism of proteins | 1 |
| Signal Transduction | 1 |
| Adaptive Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| protein modification by small protein conjugation | 1 |
| protein binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
512 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LRRC41 | CUL5 | Q93034 | 764 |
| LRRC41 | ELOA2 | Q8IYF1 | 629 |
| LRRC41 | ELOA | Q14241 | 592 |
| LRRC41 | RBX1 | P62877 | 581 |
| LRRC41 | WSB1 | Q9Y6I7 | 447 |
| LRRC41 | SPSB4 | Q96A44 | 395 |
| LRRC41 | WSB2 | Q9NYS7 | 381 |
| LRRC41 | TRIM73 | Q86UV7 | 377 |
| LRRC41 | RHOBTB3 | O94955 | 373 |
| LRRC41 | ZC3H15 | Q8WU90 | 372 |
| LRRC41 | TEX261 | Q6UWH6 | 370 |
| LRRC41 | RAB40A | Q8WXH6 | 370 |
| LRRC41 | RNF113B | Q8IZP6 | 357 |
| LRRC41 | CUL2 | Q13617 | 352 |
| LRRC41 | UBN1 | Q9NPG3 | 348 |
| LRRC41 | TRIM74 | Q86UV6 | 348 |
IntAct
62 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CUL5 | SOCS2 | psi-mi:“MI:0914”(association) | 0.880 |
| EXOC8 | EXOC5 | psi-mi:“MI:0914”(association) | 0.730 |
| CUL5 | SOCS6 | psi-mi:“MI:0914”(association) | 0.640 |
| LRRC41 | SMUG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT34 | LRRC41 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT31 | LRRC41 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | LRRC41 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LRRC41 | FHL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LRRC41 | KRTAP6-2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LRRC41 | KRTAP3-1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BPNT1 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| PPP3CC | NFATC1 | psi-mi:“MI:0914”(association) | 0.530 |
| SPCS3 | ENTPD6 | psi-mi:“MI:0914”(association) | 0.530 |
| DRG1 | LRRC41 | psi-mi:“MI:0914”(association) | 0.530 |
| RNF7 | SOCS7 | psi-mi:“MI:0914”(association) | 0.530 |
| DDI2 | LRRC41 | psi-mi:“MI:0915”(physical association) | 0.400 |
| LRRC41 | RBPMS | psi-mi:“MI:0915”(physical association) | 0.370 |
| CPSF3 | P4HA2 | psi-mi:“MI:0914”(association) | 0.350 |
| TEAD2 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| RIPK4 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| DCUN1D1 | RGSL1 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL5 | DDX3X | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| rep | TBKBP1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAST1 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| LDLRAD1 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (109): LRRC41 (Affinity Capture-RNA), LRRC41 (Affinity Capture-MS), LRRC41 (Affinity Capture-MS), LRRC41 (Affinity Capture-MS), LRRC41 (Affinity Capture-MS), RBPMS (Two-hybrid), LRRC41 (Affinity Capture-MS), LRRC41 (Affinity Capture-MS), LRRC41 (Affinity Capture-MS), LRRC41 (Affinity Capture-MS), LRRC41 (Affinity Capture-MS), LRRC41 (Affinity Capture-MS), LRRC41 (Affinity Capture-MS), LRRC41 (Affinity Capture-MS), LRRC41 (Affinity Capture-MS)
ESM2 similar proteins: A0A140LI67, A0A1W2PR48, A0JP70, D3YYM4, F1LW30, O13034, O15040, O70173, Q15345, Q3SXM0, Q3UDP0, Q3UJB9, Q3ULW6, Q3V129, Q3ZAV8, Q58DC2, Q5F479, Q5JV73, Q5M9H0, Q5M9H1, Q5R6T6, Q5R9H2, Q68DX3, Q6IRN0, Q6NV72, Q6P2E9, Q6P4K6, Q6PCD5, Q6ZPG2, Q6ZW76, Q7TNH6, Q80TQ5, Q8BLD6, Q8C008, Q8C5V5, Q8CBW4, Q8CIK8, Q8IWE5, Q8JZL1, Q8K1C9
Diamond homologs: Q0P5G1, Q15345, Q29RR1, Q5M9H1, Q5R9H2, Q8K1C9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
320 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 2 |
| Uncertain significance | 218 |
| Likely benign | 76 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 929735 | NM_003579.4(RAD54L):c.1883A>C (p.Glu628Ala) | Likely pathogenic |
| 929736 | NM_003579.4(RAD54L):c.1900C>T (p.Arg634Cys) | Likely pathogenic |
SpliceAI
3640 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:46261259:A:AG | acceptor_gain | 1.0000 |
| 1:46261259:AGAAG:A | acceptor_gain | 1.0000 |
| 1:46261260:G:GA | acceptor_gain | 1.0000 |
| 1:46261260:GAA:G | acceptor_gain | 1.0000 |
| 1:46261260:GAAGG:G | acceptor_gain | 1.0000 |
| 1:46261357:G:GT | donor_gain | 1.0000 |
| 1:46261357:G:T | donor_gain | 1.0000 |
| 1:46261381:ACGAG:A | donor_gain | 1.0000 |
| 1:46267563:GCT:G | donor_gain | 1.0000 |
| 1:46267565:T:G | donor_gain | 1.0000 |
| 1:46267565:T:TG | donor_gain | 1.0000 |
| 1:46267578:C:G | donor_gain | 1.0000 |
| 1:46270657:AG:A | acceptor_gain | 1.0000 |
| 1:46270658:GG:G | acceptor_gain | 1.0000 |
| 1:46270781:AATAG:A | donor_gain | 1.0000 |
| 1:46272751:A:G | donor_gain | 1.0000 |
| 1:46272803:G:GG | donor_gain | 1.0000 |
| 1:46274533:TCCA:T | acceptor_loss | 1.0000 |
| 1:46274534:CCA:C | acceptor_loss | 1.0000 |
| 1:46274536:A:AG | acceptor_gain | 1.0000 |
| 1:46274536:AG:A | acceptor_loss | 1.0000 |
| 1:46274537:G:GG | acceptor_gain | 1.0000 |
| 1:46274537:G:GT | acceptor_loss | 1.0000 |
| 1:46274537:GA:G | acceptor_gain | 1.0000 |
| 1:46274537:GAGC:G | acceptor_gain | 1.0000 |
| 1:46274537:GAGCC:G | acceptor_gain | 1.0000 |
| 1:46274681:TCAA:T | donor_gain | 1.0000 |
| 1:46274687:G:GT | donor_gain | 1.0000 |
| 1:46274714:GTCT:G | donor_gain | 1.0000 |
| 1:46274718:G:GG | donor_gain | 1.0000 |
AlphaMissense
5178 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:46278988:G:C | N772K | 1.000 |
| 1:46278988:G:T | N772K | 1.000 |
| 1:46279049:A:G | F752S | 1.000 |
| 1:46279078:G:C | N742K | 1.000 |
| 1:46279078:G:T | N742K | 1.000 |
| 1:46279499:G:C | N712K | 1.000 |
| 1:46279499:G:T | N712K | 1.000 |
| 1:46279595:G:C | C680W | 1.000 |
| 1:46279598:G:C | F679L | 1.000 |
| 1:46279598:G:T | F679L | 1.000 |
| 1:46279600:A:G | F679L | 1.000 |
| 1:46285379:A:G | L493P | 1.000 |
| 1:46285398:A:G | W487R | 1.000 |
| 1:46285398:A:T | W487R | 1.000 |
| 1:46286107:A:C | S250R | 1.000 |
| 1:46286107:A:T | S250R | 1.000 |
| 1:46286109:T:G | S250R | 1.000 |
| 1:46286258:A:G | F200S | 1.000 |
| 1:46286357:A:G | L167P | 1.000 |
| 1:46297613:A:G | W103R | 1.000 |
| 1:46297613:A:T | W103R | 1.000 |
| 1:46278890:A:G | F805S | 0.999 |
| 1:46278909:A:G | W799R | 0.999 |
| 1:46278909:A:T | W799R | 0.999 |
| 1:46278941:A:G | L788P | 0.999 |
| 1:46278954:C:G | A784P | 0.999 |
| 1:46278989:T:A | N772I | 0.999 |
| 1:46278990:T:G | N772H | 0.999 |
| 1:46279058:A:G | L749P | 0.999 |
| 1:46279058:A:T | L749H | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000072834 (1:46277559 G>A), RS1000106401 (1:46302431 C>A,G,T), RS1000153699 (1:46287147 C>A,G,T), RS1000281674 (1:46283748 C>T), RS1000434365 (1:46290700 G>A,C), RS1000468251 (1:46289595 T>C), RS1000592280 (1:46282746 A>C), RS1000657406 (1:46283953 T>C), RS1000698215 (1:46295636 T>C), RS1000720514 (1:46289425 C>A,T), RS1000821225 (1:46289773 G>A), RS1000970026 (1:46282727 A>G), RS1001004742 (1:46302306 C>G,T), RS1001034237 (1:46302015 A>C,G), RS1001162734 (1:46303267 G>A,T)
Disease associations
OMIM: gene MIM:618753 | disease phenotypes: MIM:193100
GenCC curated gene-disease
Mondo (3): autosomal dominant hypophosphatemic rickets (MONDO:0008660), non-Hodgkin lymphoma (MONDO:0018908), primary ovarian failure (MONDO:0005387)
Orphanet (3): Autosomal dominant hypophosphatemic rickets (Orphanet:89937), Non-Hodgkin lymphoma (Orphanet:547), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005951_37 | Body mass index | 8.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008228 | Lymphoma, Non-Hodgkin | C04.557.386.480; C15.604.515.569.480; C20.683.515.761.480 |
| D016649 | Primary Ovarian Insufficiency | C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750 |
| C562791 | Hypophosphatemic Rickets, Autosomal Dominant (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 5 |
| trichostatin A | affects expression, decreases expression | 2 |
| sodium arsenite | increases abundance, increases expression, affects cotreatment | 2 |
| FR900359 | affects phosphorylation | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| beta-lapachone | increases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| monomethylarsonous acid | increases expression | 1 |
| K 7174 | increases expression | 1 |
| fenpyroximate | decreases expression | 1 |
| 4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| picoxystrobin | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Bortezomib | decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Antimycin A | decreases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Cytarabine | decreases expression | 1 |
| Ketoconazole | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1W4 | Abcam HeLa LRRC41 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00090038 | PHASE4 | COMPLETED | Effect of Rituximab on Immunological Recall Response to Specific Antigens in the Treatment of Non-Hodgkin’s Lymphoma |
| NCT00162955 | PHASE4 | COMPLETED | Prevention of CHOP-induced Chronic Cardiotoxicity |
| NCT00277160 | PHASE4 | COMPLETED | A Study of Primary Prophylaxis With Neulasta (Pegfilgrastim) Versus Secondary Prophylaxis After Chemotherapy in Elderly Subjects (>/= 65 Years Old) With Cancer |
| NCT00352703 | PHASE4 | COMPLETED | PROMPT - Palifermin in Reduction of Oral Mucositis in PBSC Transplantation |
| NCT00430352 | PHASE4 | COMPLETED | MAXIMA Study: A Study of Maintenance Therapy With MabThera (Rituximab) in Patients With Non-Hodgkin’s Lymphoma. |
| NCT00797810 | PHASE4 | UNKNOWN | Intensification Therapy of Mature B-ALL, Burkitt and Burkitt Like and Other High Grade Non-Hodgkin’s Lymphoma in Adults |
| NCT00808171 | PHASE4 | COMPLETED | Evaluation of the Analgesy With Emla and/or Nitrous Oxide in Pediatric Patients for Lumbar Puncture |
| NCT00926757 | PHASE4 | COMPLETED | Prophylactic Use of Entecavir for Non-Hodgkin’s Lymphoma Patients With Resolved Hepatitis B |
| NCT00969462 | PHASE4 | COMPLETED | Doxorubicin Pharmacokinetics and Response in Non Hodgkin’s Lymphoma |
| NCT01124526 | PHASE4 | COMPLETED | Efficacy Response Duration and Toxicity of Rituximab, Fludarabine, and Cyclophosphamide (RFC) as 1st Line Treatment and Rituximab (R) in Maintenance Treatment in Follicular Non Hodgkin (FNH) Lymphoma |
| NCT01164475 | PHASE4 | COMPLETED | Evaluation of Approved Weight-Based Dose Compared to Fixed Dose of Plerixafor in Patients With Non-Hodgkin’s Lymphoma (NHL) Weighing Less Than 70 Kilograms |
| NCT01180049 | PHASE4 | COMPLETED | Comparison Of 2 Doses Of Temsirolimus (Torisel) In Patients With Mantle Cell Lymphoma |
| NCT02782845 | PHASE4 | COMPLETED | An Expanded Access Program of Pegfilgrastim (Neulastim) in Participants With Non-Hodgkin’s Lymphoma (NHL) |
| NCT05191225 | PHASE4 | UNKNOWN | Ultrafast Truxima Infusion in Non-Hodgkin’s Lymphoma: Txagorapid Study |
| NCT06665737 | PHASE4 | NOT_YET_RECRUITING | Outcomes of Early and Late Administration G-CSF for Primary Prophylaxis in Non-Hodgkin’s Lymphoma Patients |
| NCT06876649 | PHASE4 | RECRUITING | A Master Protocol to Evaluate the Long-Term Safety of (LY3527727) Pirtobrutinib |
| NCT06876662 | PHASE4 | RECRUITING | A Study of (LY3527727) Pirtobrutinib in Participants With Previously Treated Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma or Non-Hodgkin Lymphoma |
| NCT07016165 | PHASE4 | RECRUITING | Ciprofloxacin vs Ceftazidime for Empirical Treatment of High-Risk Neutropenic Fever in Children With Hematologic Malignancies |
| NCT00039910 | PHASE3 | COMPLETED | Safety and Efficacy of (PN-152,243)/PN-196,444 in the Prevention of Thrombocytopenia |
| NCT00057343 | PHASE3 | TERMINATED | Safety and Efficacy of Zevalin in the Treatment of Non-Hodgkin’s Lymphoma |
| NCT00078598 | PHASE3 | UNKNOWN | A Study of Rituximab Versus Iodine I 131 Tositumomab Therapy for Patients With Non-Hodgkin’s Lymphoma |
| NCT00091676 | PHASE3 | UNKNOWN | Study of the BiovaxId Tumor Derived Idiotype Vaccine in Patients With Follicular Lymphoma |
| NCT00129090 | PHASE3 | COMPLETED | Mega-CHOEP: Conventional Chemo Vs HD Chemo Followed by Auto SCT in Younger Pts With Aggressive Non-Hodgkin’s Lymphoma |
| NCT00133302 | PHASE3 | TERMINATED | Study of Standard CHOP Versus Biweekly CHOP in Aggressive Non-Hodgkin’s Lymphoma (JCOG9809) |
| NCT00139841 | PHASE3 | COMPLETED | Safety and Efficacy of Treanda™ (Bendamustine HCl) in Patients With Indolent Non-Hodgkin’s Lymphoma (NHL) Who Are Refractory to Rituximab |
| NCT00145652 | PHASE3 | COMPLETED | Adjuvant I.V. Iron Therapy During Erythropoetin Treatment of Anemic Patients With Lymphoproliferative Disorders. |
| NCT00152139 | PHASE3 | COMPLETED | Stem Cell Transplantation for Patients With Hematologic Malignancies |
| NCT00269113 | PHASE3 | COMPLETED | A Study of MabThera (Rituximab) in Patients With Advanced Non-Hodgkin’s Lymphoma |
| NCT00312845 | PHASE3 | COMPLETED | Study of VELCADE and Rituximab in Patients With Relapsed or Refractory B-cell Non-Hodgkin’s Lymphoma |
| NCT00332202 | PHASE3 | COMPLETED | PRELUDE:Study to Investigate the Prevention of Relapse in Lymphoma Using Daily Enzastaurin |
| NCT00352846 | PHASE3 | COMPLETED | Effect of Zoledronic Acid on Chemotherapy Induced Bone Loss |
| NCT00398411 | PHASE3 | COMPLETED | Moxifloxacin in the Prevention of Bacteremia After High-dose Chemotherapy and Transplantation of Peripheral Stem Cells |
| NCT00463463 | PHASE3 | UNKNOWN | Zevalin and BEAM High-dose Chemotherapy Compared With BEAM Alone as Conditioning Regimen in Patients With Chemosensitive Relapse of Non-Hodgkin’s Lymphoma |
| NCT00491491 | PHASE3 | COMPLETED | Zevalin-beam for Aggressive Lymphoma |
| NCT00577161 | PHASE3 | WITHDRAWN | Fludarabine, Pixantrone and Rituximab vs Fludarabine and Rituximab forRelapsed or Refractory Indolent NHL |
| NCT00719472 | PHASE3 | COMPLETED | A Study of Rituximab Alternative Dosing Rate in Patients With Previously Untreated Diffuse Large B-cell or Follicular Non-Hodgkin’s Lymphoma (RATE) |
| NCT00877006 | PHASE3 | COMPLETED | Study of Bendamustine Hydrochloride and Rituximab (BR) Compared With R-CVP or R-CHOP in the First-Line Treatment of Patients With Advanced Indolent Non-Hodgkin’s Lymphoma (NHL) or Mantle Cell Lymphoma (MCL) - Referred to as the BRIGHT Study |
| NCT00877214 | PHASE3 | ACTIVE_NOT_RECRUITING | Significance of Duration of Maintenance Therapy With Rituximab in Non-Hodgkin Lymphomas |
| NCT00928018 | PHASE3 | COMPLETED | Tacrolimus/Sirolimus/Methotrexate vs Tacrolimus/Methotrexate or Cyclosporine/Mycophenolate Mofetil for GVHD Prophylaxis After Reduced Intensity Allogeneic Stem Cell Transplantation for Patients With Lymphoma |
| NCT00991211 | PHASE3 | COMPLETED | Bendamustine Plus Rituximab Versus CHOP Plus Rituximab |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autosomal dominant hypophosphatemic rickets, non-Hodgkin lymphoma, primary ovarian failure