RPL3L
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Summary
RPL3L (ribosomal protein L3 like, HGNC:10351) is a protein-coding gene on chromosome 16p13.3, encoding Ribosomal protein uL3-like (Q92901). Heart- and skeletal muscle-specific component of the ribosome, which regulates muscle function.
This gene encodes a protein that shares sequence similarity with ribosomal protein L3. The protein belongs to the L3P family of ribosomal proteins. Unlike the ubiquitous expression of ribosomal protein genes, this gene has a tissue-specific pattern of expression, with the highest levels of expression in skeletal muscle and heart. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome.
Source: NCBI Gene 6123 — RefSeq curated summary.
At a glance
- Gene–disease (curated): cardiomyopathy, dilated, 2D (Strong, GenCC) — +1 more curated relationship
- GWAS associations: 9
- Clinical variants (ClinVar): 139 total — 5 pathogenic, 2 likely-pathogenic
- Phenotypes (HPO): 27
- MANE Select transcript:
NM_005061
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10351 |
| Approved symbol | RPL3L |
| Name | ribosomal protein L3 like |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000140986 |
| Ensembl biotype | protein_coding |
| OMIM | 617416 |
| Entrez | 6123 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 14 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000268661, ENST00000565426, ENST00000566484, ENST00000902258, ENST00000902259, ENST00000968103, ENST00000968104, ENST00000968105, ENST00000968106, ENST00000968107, ENST00000968108, ENST00000968109, ENST00000968110, ENST00000968111, ENST00000968112
RefSeq mRNA: 1 — MANE Select: NM_005061
NM_005061
CCDS: CCDS10450
Canonical transcript exons
ENST00000268661 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000945934 | 1952874 | 1953042 |
| ENSE00000945935 | 1950844 | 1950979 |
| ENSE00000945936 | 1947194 | 1947380 |
| ENSE00000945938 | 1946625 | 1946726 |
| ENSE00000945940 | 1945499 | 1945618 |
| ENSE00001267074 | 1943974 | 1944893 |
| ENSE00001363300 | 1954629 | 1954689 |
| ENSE00001663704 | 1945835 | 1945930 |
| ENSE00001780983 | 1946938 | 1947098 |
| ENSE00003657249 | 1953956 | 1954148 |
Expression profiles
Bgee: expression breadth ubiquitous, 156 present calls, max score 99.34.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.9111 / max 525.8126, expressed in 99 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 155885 | 1.7956 | 51 |
| 155887 | 0.0667 | 32 |
| 155886 | 0.0488 | 19 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.34 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 99.16 | gold quality |
| vastus lateralis | UBERON:0001379 | 99.05 | gold quality |
| triceps brachii | UBERON:0001509 | 98.95 | gold quality |
| diaphragm | UBERON:0001103 | 98.94 | gold quality |
| quadriceps femoris | UBERON:0001377 | 98.75 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.72 | gold quality |
| apex of heart | UBERON:0002098 | 98.58 | gold quality |
| gluteal muscle | UBERON:0002000 | 98.31 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 98.27 | gold quality |
| biceps brachii | UBERON:0001507 | 98.12 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 97.45 | gold quality |
| heart right ventricle | UBERON:0002080 | 97.44 | gold quality |
| muscle organ | UBERON:0001630 | 97.14 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 97.14 | gold quality |
| heart left ventricle | UBERON:0002084 | 97.03 | gold quality |
| cardiac ventricle | UBERON:0002082 | 96.87 | gold quality |
| muscle of leg | UBERON:0001383 | 96.71 | gold quality |
| deltoid | UBERON:0001476 | 94.79 | gold quality |
| tibialis anterior | UBERON:0001385 | 91.48 | silver quality |
| muscle tissue | UBERON:0002385 | 91.46 | gold quality |
| heart | UBERON:0000948 | 87.29 | gold quality |
| right atrium auricular region | UBERON:0006631 | 86.41 | gold quality |
| cardiac atrium | UBERON:0002081 | 85.16 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 82.95 | gold quality |
| myocardium | UBERON:0002349 | 82.88 | gold quality |
| body of tongue | UBERON:0011876 | 82.88 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 77.21 | silver quality |
| right testis | UBERON:0004534 | 76.99 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 76.95 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.87 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
6 targeting RPL3L, 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-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-4690-5P | 99.65 | 66.24 | 813 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-6529-5P | 97.85 | 66.47 | 673 |
| HSA-MIR-4329 | 97.68 | 66.26 | 1003 |
| HSA-MIR-6869-5P | 97.17 | 67.06 | 634 |
Literature-anchored findings (GeneRIF, showing 1)
- Exploring the Regulation and Function of Rpl3l in the Development of Early-Onset Dilated Cardiomyopathy and Congestive Heart Failure Using Systems Genetics Approach. (PMID:38254943)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Rpl3l | ENSMUSG00000002500 |
| rattus_norvegicus | Rpl3l | ENSRNOG00000014641 |
| drosophila_melanogaster | RpL3 | FBGN0020910 |
| caenorhabditis_elegans | WBGENE00004414 |
Paralogs (1): RPL3 (ENSG00000100316)
Protein
Protein identifiers
Ribosomal protein uL3-like — Q92901 (reviewed: Q92901)
Alternative names: 60S ribosomal protein L3-like, Large ribosomal subunit protein uL3-like
All UniProt accessions (2): Q92901, H3BQN3
UniProt curated annotations — full annotation on UniProt →
Function. Heart- and skeletal muscle-specific component of the ribosome, which regulates muscle function. Component of the large ribosomal subunit in striated muscle cells: replaces the RPL3 paralog in the ribosome in these cells. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Inhibits myotube growth and muscle function.
Subunit / interactions. Component of the large ribosomal subunit in striated muscle cells.
Disease relevance. Cardiomyopathy, dilated, 2D (CMD2D) [MIM:619371] A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2D is an autosomal recessive, severe form with neonatal onset. The disease may be caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the universal ribosomal protein uL3 family.
RefSeq proteins (1): NP_005052* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000597 | Ribosomal_uL3 | Family |
| IPR009000 | Transl_B-barrel_sf | Homologous_superfamily |
| IPR019926 | Ribosomal_uL3_CS | Conserved_site |
| IPR044892 | Ribosomal_L3_dom_3_arc_sf | Homologous_superfamily |
| IPR045077 | L3_arc_euk | Family |
Pfam: PF00297
UniProt features (14 total): sequence variant 10, region of interest 2, chain 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q92901-F1 | 94.79 | 0.93 |
Function
Pathways and Gene Ontology
Reactome pathways
16 pathways
| ID | Pathway |
|---|---|
| R-HSA-156827 | L13a-mediated translational silencing of Ceruloplasmin expression |
| R-HSA-156902 | Peptide chain elongation |
| R-HSA-1799339 | SRP-dependent cotranslational protein targeting to membrane |
| R-HSA-192823 | Viral mRNA Translation |
| R-HSA-2408557 | Selenocysteine synthesis |
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
| R-HSA-72689 | Formation of a pool of free 40S subunits |
| R-HSA-72706 | GTP hydrolysis and joining of the 60S ribosomal subunit |
| R-HSA-72764 | Eukaryotic Translation Termination |
| R-HSA-9010553 | Regulation of expression of SLITs and ROBOs |
| R-HSA-9633012 | Response of EIF2AK4 (GCN2) to amino acid deficiency |
| R-HSA-975956 | Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) |
| R-HSA-975957 | Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) |
| R-HSA-9954709 | Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide |
| R-HSA-9954714 | PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA |
| R-HSA-9954716 | ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA |
MSigDB gene sets: 162 (showing top):
GOBP_CYTOPLASMIC_TRANSLATION, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_MYOTUBE_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_TRANSLATION, MARTINEZ_RB1_TARGETS_UP, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_MUSCLE_CONTRACTION, GOBP_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_SYNCYTIUM_FORMATION_BY_PLASMA_MEMBRANE_FUSION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME
GO Biological Process (3): translation (GO:0006412), negative regulation of myotube differentiation (GO:0010832), regulation of striated muscle tissue development (GO:0016202)
GO Molecular Function (2): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735)
GO Cellular Component (4): ribosome (GO:0005840), membrane (GO:0016020), cytosolic large ribosomal subunit (GO:0022625), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-11 pathways:
| Category | Pathways |
|---|---|
| Ribosome-associated quality control | 3 |
| Translation | 2 |
| Cap-dependent Translation Initiation | 2 |
| Nonsense-Mediated Decay (NMD) | 2 |
| Eukaryotic Translation Initiation | 1 |
| Eukaryotic Translation Elongation | 1 |
| Influenza Viral RNA Transcription and Replication | 1 |
| Selenoamino acid metabolism | 1 |
| rRNA processing in the nucleus and cytosol | 1 |
| Signaling by ROBO receptors | 1 |
| Cellular response to starvation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| peptidyltransferase activity | 1 |
| translational initiation | 1 |
| translational elongation | 1 |
| translational termination | 1 |
| macromolecule biosynthetic process | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| regulation of myotube differentiation | 1 |
| myotube differentiation | 1 |
| negative regulation of striated muscle cell differentiation | 1 |
| striated muscle tissue development | 1 |
| regulation of muscle organ development | 1 |
| regulation of muscle tissue development | 1 |
| nucleic acid binding | 1 |
| structural molecule activity | 1 |
| ribosome | 1 |
| intracellular membraneless organelle | 1 |
| cellular anatomical structure | 1 |
| large ribosomal subunit | 1 |
| cytosolic ribosome | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
4464 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RPL3L | RPL10L | Q96L21 | 703 |
| RPL3L | RPS24 | P16632 | 668 |
| RPL3L | RPL19 | P14118 | 651 |
| RPL3L | RPL39L | Q96EH5 | 628 |
| RPL3L | RPL22L1 | Q6P5R6 | 575 |
| RPL3L | RPL36AL | Q969Q0 | 570 |
| RPL3L | RPL23A | P29316 | 510 |
| RPL3L | RPL38 | P23411 | 509 |
| RPL3L | RPS26 | P02383 | 491 |
| RPL3L | RPS17 | P08708 | 491 |
| RPL3L | RPL8 | P25120 | 489 |
| RPL3L | MPHOSPH6 | Q99547 | 483 |
| RPL3L | EIF3G | O75821 | 476 |
| RPL3L | RPL5 | P46777 | 475 |
| RPL3L | RPL15 | P39030 | 471 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| INAVA | CYTH3 | psi-mi:“MI:0914”(association) | 0.640 |
| vIRF | GPC4 | psi-mi:“MI:0914”(association) | 0.350 |
| G3BP2 | FARS2 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR2 | psi-mi:“MI:0914”(association) | 0.350 | |
| CSNK2A2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (89): RPL13 (Co-fractionation), RPL14 (Co-fractionation), RPL15 (Co-fractionation), RPL18 (Co-fractionation), RPL23A (Co-fractionation), RPL27A (Co-fractionation), RPL30 (Co-fractionation), RPL37A (Co-fractionation), RPL39 (Co-fractionation), RPL3L (Co-fractionation), RPL3L (Co-fractionation), RPL3L (Co-fractionation), RPL3L (Co-fractionation), RPL3L (Co-fractionation), RPL3L (Co-fractionation)
ESM2 similar proteins: A5JSW9, B2CAZ2, B7XMD2, E9PWZ3, G1TL06, O01727, O14049, O16797, O96774, P0CX39, P0CX40, P14126, P17094, P21531, P22738, P27659, P29327, P34113, P35684, P36584, P39023, P39872, P40372, P49149, P50880, P59671, P62247, Q29293, Q3SZ10, Q4N3P0, Q4R5Q0, Q4UFS9, Q54E24, Q59LS1, Q5DAA3, Q64FN2, Q6BXM5, Q6CJR7, Q6FTJ2, Q759R7
Diamond homologs: A0B9X0, A0LIJ0, A1RVG3, A2SPK3, A3CSZ7, A3DNA4, A3MWI4, A4FVY2, A4WMH5, A4YCW6, A5UL89, A6UQJ0, A6UV68, A6VHD2, A7I5N9, A7Z0N8, A8M529, A8MB75, A9A9B8, B0R656, B1YD88, B2GIL4, B6YSL3, B8GKD3, C3MQ59, C3MVH8, C3N5S7, C3NEE3, C3NHA9, C4KHF6, C5A286, C6A159, E9PWZ3, G1TL06, G7WMS7, O16797, O26110, O28354, O59418, O96774
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RPL3L | “form complex” | “60S cytosolic large ribosomal subunit” | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
139 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 5 |
| Likely pathogenic | 2 |
| Uncertain significance | 117 |
| Likely benign | 8 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (7)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1162248 | NM_005061.3(RPL3L):c.923A>T (p.Asp308Val) | Pathogenic |
| 1162249 | NM_005061.3(RPL3L):c.1027C>T (p.Arg343Trp) | Pathogenic |
| 1162250 | NM_005061.3(RPL3L):c.566C>T (p.Thr189Met) | Pathogenic |
| 1162253 | NM_005061.3(RPL3L):c.481C>T (p.Arg161Trp) | Pathogenic |
| 1162254 | NM_005061.3(RPL3L):c.347G>A (p.Arg116His) | Pathogenic |
| 3337524 | NM_005061.3(RPL3L):c.1150G>A (p.Glu384Lys) | Likely pathogenic |
| 4845737 | NM_005061.3(RPL3L):c.523C>T (p.Gln175Ter) | Likely pathogenic |
SpliceAI
1966 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:1945615:GGGA:G | acceptor_gain | 1.0000 |
| 16:1945616:GGA:G | acceptor_gain | 1.0000 |
| 16:1945617:GA:G | acceptor_gain | 1.0000 |
| 16:1945619:C:CC | acceptor_gain | 1.0000 |
| 16:1945628:CCA:C | acceptor_gain | 1.0000 |
| 16:1945629:C:T | acceptor_gain | 1.0000 |
| 16:1945629:CA:C | acceptor_gain | 1.0000 |
| 16:1945630:A:C | acceptor_gain | 1.0000 |
| 16:1945843:G:C | donor_gain | 1.0000 |
| 16:1945926:CCACC:C | acceptor_gain | 1.0000 |
| 16:1945927:CACC:C | acceptor_gain | 1.0000 |
| 16:1945927:CACCC:C | acceptor_gain | 1.0000 |
| 16:1945928:ACCC:A | acceptor_loss | 1.0000 |
| 16:1945929:CC:C | acceptor_gain | 1.0000 |
| 16:1945930:CC:C | acceptor_gain | 1.0000 |
| 16:1945932:T:A | acceptor_loss | 1.0000 |
| 16:1946731:C:CT | acceptor_gain | 1.0000 |
| 16:1946744:A:C | acceptor_gain | 1.0000 |
| 16:1946934:GCA:G | donor_loss | 1.0000 |
| 16:1946937:C:CT | donor_loss | 1.0000 |
| 16:1946937:CCTT:C | donor_gain | 1.0000 |
| 16:1947094:GACCC:G | acceptor_gain | 1.0000 |
| 16:1947096:CCC:C | acceptor_gain | 1.0000 |
| 16:1947097:CC:C | acceptor_gain | 1.0000 |
| 16:1947097:CCC:C | acceptor_gain | 1.0000 |
| 16:1947098:CC:C | acceptor_gain | 1.0000 |
| 16:1947098:CCTG:C | acceptor_loss | 1.0000 |
| 16:1947099:C:CC | acceptor_gain | 1.0000 |
| 16:1947099:CTGTG:C | acceptor_loss | 1.0000 |
| 16:1947188:CCCTA:C | donor_loss | 1.0000 |
AlphaMissense
2676 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:1947058:C:A | K243N | 0.992 |
| 16:1947058:C:G | K243N | 0.992 |
| 16:1954134:A:C | F6L | 0.992 |
| 16:1954134:A:T | F6L | 0.992 |
| 16:1954136:A:G | F6L | 0.992 |
| 16:1945529:G:C | F379L | 0.991 |
| 16:1945529:G:T | F379L | 0.991 |
| 16:1945531:A:G | F379L | 0.991 |
| 16:1947042:G:T | R249S | 0.991 |
| 16:1953009:G:T | T77K | 0.991 |
| 16:1954002:C:A | K50N | 0.990 |
| 16:1954002:C:G | K50N | 0.990 |
| 16:1950863:C:G | R161P | 0.989 |
| 16:1954104:G:C | F16L | 0.989 |
| 16:1954104:G:T | F16L | 0.989 |
| 16:1954106:A:G | F16L | 0.989 |
| 16:1946957:C:G | R277P | 0.987 |
| 16:1953009:G:A | T77I | 0.987 |
| 16:1945838:T:A | R348S | 0.986 |
| 16:1945838:T:G | R348S | 0.986 |
| 16:1945922:G:C | F320L | 0.986 |
| 16:1945922:G:T | F320L | 0.986 |
| 16:1945924:A:G | F320L | 0.986 |
| 16:1945892:G:C | F330L | 0.985 |
| 16:1945892:G:T | F330L | 0.985 |
| 16:1945894:A:G | F330L | 0.985 |
| 16:1953009:G:C | T77R | 0.985 |
| 16:1954019:C:G | A45P | 0.985 |
| 16:1945923:A:G | F320S | 0.984 |
| 16:1947087:G:T | R234S | 0.984 |
dbSNP variants (sampled 300 via entrez): RS1000011132 (16:1952833 C>G), RS1000252205 (16:1944802 G>T), RS1000694775 (16:1953443 C>G,T), RS1000807983 (16:1948161 T>A), RS1000821280 (16:1950417 T>C), RS1001244135 (16:1943521 G>C), RS1001298634 (16:1947655 A>G), RS1001796701 (16:1956630 C>A,T), RS1001903474 (16:1953775 G>A), RS1001920992 (16:1955138 G>A), RS1002045275 (16:1945123 A>C), RS1002095269 (16:1951392 T>G), RS1002857884 (16:1954607 C>T), RS1002872371 (16:1944386 GAGCTGACTCAGCGCAAGAAGAC>G), RS1002909973 (16:1954435 T>G)
Disease associations
OMIM: gene MIM:617416 | disease phenotypes: MIM:619371
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| cardiomyopathy, dilated, 2D | Strong | Autosomal recessive |
| dilated cardiomyopathy | Limited | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| cardiomyopathy, dilated, 2D | Moderate | AR |
Mondo (3): cardiomyopathy, dilated, 2D (MONDO:0030300), cardiomyopathy (MONDO:0004994), dilated cardiomyopathy (MONDO:0005021)
Orphanet (1): Rare cardiomyopathy (Orphanet:167848)
HPO phenotypes
27 total (27 of 27 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000969 | Edema |
| HP:0001522 | Death in infancy |
| HP:0001635 | Congestive heart failure |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0001653 | Mitral regurgitation |
| HP:0001655 | Patent foramen ovale |
| HP:0001727 | Thromboembolic stroke |
| HP:0002092 | Pulmonary arterial hypertension |
| HP:0002875 | Exertional dyspnea |
| HP:0003198 | Myopathy |
| HP:0003457 | EMG abnormality |
| HP:0003593 | Infantile onset |
| HP:0003623 | Neonatal onset |
| HP:0005180 | Tricuspid regurgitation |
| HP:0011623 | Muscular ventricular septal defect |
| HP:0011675 | Arrhythmia |
| HP:0012378 | Fatigue |
| HP:0012664 | Reduced left ventricular ejection fraction |
| HP:0012764 | Orthopnea |
| HP:0025169 | Left ventricular systolic dysfunction |
| HP:0030149 | Cardiogenic shock |
| HP:0030718 | Right atrial enlargement |
| HP:0031329 | Interstitial cardiac fibrosis |
| HP:0033997 | Perinuclear cardiomyocyte vacuolization |
| HP:0100578 | Lipoatrophy |
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006061_132 | Atrial fibrillation | 6.000000e-14 |
| GCST006061_3 | Atrial fibrillation | 4.000000e-14 |
| GCST006414_116 | Atrial fibrillation | 2.000000e-08 |
| GCST006414_30 | Atrial fibrillation | 2.000000e-14 |
| GCST006414_94 | Atrial fibrillation | 2.000000e-08 |
| GCST008058_214 | Estimated glomerular filtration rate | 1.000000e-12 |
| GCST008059_6 | Estimated glomerular filtration rate | 2.000000e-16 |
| GCST010796_5218 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
| GCST90002397_229 | Mean spheric corpuscular volume | 3.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004327 | electrocardiography |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D009202 | Cardiomyopathies | C14.280.238 |
| D002311 | Cardiomyopathy, Dilated | C14.280.195.160; C14.280.238.070; C16.320.488.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
8 total (human), top 8 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| tris(2-butoxyethyl) phosphate | decreases expression | 1 |
| abrine | increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Asbestos | increases expression | 1 |
| Lead | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Okadaic Acid | increases expression | 1 |
Clinical trials (associated diseases)
450 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00374465 | PHASE4 | UNKNOWN | Therapy With Verapamil or Carvedilol in Chronic Heart Failure |
| NCT01293903 | PHASE4 | COMPLETED | Study of Qiliqiangxin Capsule to Treat Dilated Cardiomyopathy |
| NCT01557140 | PHASE4 | COMPLETED | A Randomized Trial of Carvedilol in Chronic Chagas Cardiomyopathy |
| NCT01917149 | PHASE4 | COMPLETED | Supramaximal Titrated Inhibition of RAAS in Dilated Cardiomyopathy |
| NCT02115581 | PHASE4 | COMPLETED | Coenzyme Q10 Supplementation in Children With Idiopathic Dilated Cardiomyopathy |
| NCT06236022 | PHASE4 | RECRUITING | The Effects of Sirolimus in Patients With Dilated Cardiomyopathy Infected With Kaposi Sarcoma-associated Virus |
| NCT00348530 | PHASE4 | UNKNOWN | Carvedilol Versus Verapamil in Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy |
| NCT00371891 | PHASE4 | COMPLETED | Ontario Multidetector Computed Tomographic (MDCT) Coronary Angiography Study (OMCAS) |
| NCT00401856 | PHASE4 | COMPLETED | CMR to Assess Fibrosis in Cardiomyopathy Using Eplerenone |
| NCT00559338 | PHASE4 | COMPLETED | Impact of Nesiritide Infusion for Decompensated Heart Failure in the Emergency Department |
| NCT00606775 | PHASE4 | UNKNOWN | The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy |
| NCT00658203 | PHASE4 | COMPLETED | Clinical Evaluation on Advanced Resynchronization |
| NCT00701220 | PHASE4 | COMPLETED | Statin Therapy for Ischemic and Nonischemic Cardiomyopathy |
| NCT00800761 | PHASE4 | COMPLETED | Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major |
| NCT00806390 | PHASE4 | TERMINATED | Prevention of Anthracycline or Trastuzumab Induced Cardiomyopathy by Metoprolol |
| NCT01006473 | PHASE4 | COMPLETED | Exercise Training in Chagas Cardiomyopathy |
| NCT01261065 | PHASE4 | COMPLETED | Mechanisms of Improvement With Beta-Blocker Treatment in Heart Failure |
| NCT01345188 | PHASE4 | COMPLETED | Ranolazine in Ischemic Cardiomyopathy |
| NCT01868841 | PHASE4 | COMPLETED | 123-I mIBG (AdreView) Heart-to-Mediastinal (H/M) Ratio and SPECT Imaging on a Small Field of View-High Efficiency Cardiac SPECT System |
| NCT02640846 | PHASE4 | UNKNOWN | Effects of Levosimendan, Milrinone and Norepinephrine on Left and Right Ventricular Function in Septic Shock |
| NCT03228823 | PHASE4 | UNKNOWN | Prospective Assessment of Premature Ventricular Contractions Suppression in Cardiomyopathy(PAPS) |
| NCT04323852 | PHASE4 | COMPLETED | Can Vitamin D Reduce Heart Muscle Damage After Bypass Surgery? |
| NCT05034432 | PHASE4 | RECRUITING | The PIVATAL Study -Study of Ventricular Arrhythmia (VTA) Ablation in Left Ventricular Assist Device (LVAD) Patients |
| NCT05718128 | PHASE4 | RECRUITING | Clinical Study of Endocardial Myocardial Biopsy |
| NCT06964464 | PHASE4 | RECRUITING | Comparative Effectiveness of Carvedilol Versus Metoprolol Succinate in Heart Failure Patients With an Implantable Cardioverter Defibrillator |
| NCT00333827 | PHASE3 | COMPLETED | Cell Therapy In Dilated Cardiomyopathy |
| NCT00505154 | PHASE3 | COMPLETED | Effect of Rosuvastatin on Left Ventricular Remodeling |
| NCT01223703 | PHASE3 | COMPLETED | PUFAs and Left Ventricular Function in Heart Failure |
| NCT01583114 | PHASE3 | TERMINATED | PREclinical Mutation CARriers From Families With DIlated Cardiomyopathy and ACE Inhibitors |
| NCT01914081 | PHASE3 | UNKNOWN | Resveratrol: A Potential Anti- Remodeling Agent in Heart Failure, From Bench to Bedside |
| NCT02989181 | PHASE3 | UNKNOWN | Continues Positive Airway Pressure Treatment for Patients With Dilated Cardiomyopathy and Obstructive Sleep Apnea |
| NCT03439514 | PHASE3 | TERMINATED | A Study of ARRY-371797 (PF-07265803) in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation |
| NCT05237323 | PHASE3 | COMPLETED | Micophenolate Mofetil Versus Azathioprine in Myocarditis |
| NCT05849766 | PHASE3 | COMPLETED | Effect of Dapagliflozin on Cardiac Structure, Function and Secondary Mitral Regurgitation in Patients with Left Ventricle Dysfunction |
| NCT06250257 | PHASE3 | RECRUITING | Bromocriptine in Dilated Cardiomyopathy Among Women of Reproductive Age |
| NCT00170183 | PHASE3 | COMPLETED | Brain Natriuretic Peptide (BNP) to Preserve Renal Function in Hospitalized Patients With Heart Failure |
| NCT00270387 | PHASE3 | COMPLETED | A Study of Short-Term Outcomes and Economic Impact For Patients With Worsening Congestive Heart Failure When Natrecor (Nesiritide) is Added to Standard-Care Therapy, Compared to Administration of Placebo With Standard-Care Therapy |
| NCT00321295 | PHASE3 | COMPLETED | Biventricular Pacing In Patients With Left Ventricular Dysfunction After Cardiovascular Surgery |
| NCT00483197 | PHASE3 | UNKNOWN | VentrAssistTM LVAD as a Bridge to Cardiac Transplantation - Pivotal Trial |
| NCT00490321 | PHASE3 | UNKNOWN | VentrAssistTM LVAD for the Treatment of Advanced Heart Failure - Destination Therapy |
Related Atlas pages
- Associated diseases: dilated cardiomyopathy, cardiomyopathy, dilated, 2D
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): atrial fibrillation, cardiomyopathy, cardiomyopathy, dilated, 2D, dilated cardiomyopathy