NRAP
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Summary
NRAP (nebulin related anchoring protein, HGNC:7988) is a protein-coding gene on chromosome 10q25.3, encoding Nebulin-related-anchoring protein (Q86VF7). May be involved in anchoring the terminal actin filaments in the myofibril to the membrane and in transmitting tension from the myofibrils to the extracellular matrix.
Predicted to enable actin filament binding activity and muscle alpha-actinin binding activity. Predicted to be involved in cardiac muscle thin filament assembly. Predicted to be located in fascia adherens and muscle tendon junction. Predicted to be active in Z disc.
Source: NCBI Gene 4892 — RefSeq curated summary.
At a glance
- Gene–disease (curated): dilated cardiomyopathy (Strong, ClinGen)
- Clinical variants (ClinVar): 443 total — 2 pathogenic, 11 likely-pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_198060
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7988 |
| Approved symbol | NRAP |
| Name | nebulin related anchoring protein |
| Location | 10q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000197893 |
| Ensembl biotype | protein_coding |
| OMIM | 602873 |
| Entrez | 4892 |
Gene structure
Transcript identifiers
Ensembl transcripts: 76 — 76 protein_coding
ENST00000359988, ENST00000360478, ENST00000369358, ENST00000369360, ENST00000883351, ENST00000883352, ENST00000883353, ENST00000883354, ENST00000883355, ENST00000883356, ENST00000883357, ENST00000883358, ENST00000883359, ENST00000883360, ENST00000883361, ENST00000883362, ENST00000883363, ENST00000883364, ENST00000883365, ENST00000883366, ENST00000883367, ENST00000883368, ENST00000883369, ENST00000883370, ENST00000883371, ENST00000883372, ENST00000945550, ENST00000945551, ENST00000945552, ENST00000945553, ENST00000945554, ENST00000945555, ENST00000945556, ENST00000945557, ENST00000945558, ENST00000945559, ENST00000945560, ENST00000945561, ENST00000945562, ENST00000945563, ENST00000945564, ENST00000945565, ENST00000945566, ENST00000945567, ENST00000945568, ENST00000945569, ENST00000945570, ENST00000945571, ENST00000945572, ENST00000945573, ENST00000945574, ENST00000945575, ENST00000945576, ENST00000945577, ENST00000945578, ENST00000945579, ENST00000945580, ENST00000945581, ENST00000945582, ENST00000945583, ENST00000945584, ENST00000945585, ENST00000945586, ENST00000945587, ENST00000945588, ENST00000945589, ENST00000945590, ENST00000945591, ENST00000945592, ENST00000945593, ENST00000945594, ENST00000945595, ENST00000945596, ENST00000945597, ENST00000945598, ENST00000945599
RefSeq mRNA: 4 — MANE Select: NM_198060
NM_001261463, NM_001322945, NM_006175, NM_198060
CCDS: CCDS73199, CCDS7578, CCDS7579
Canonical transcript exons
ENST00000359988 — 42 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001188077 | 113614839 | 113614946 |
| ENSE00001261874 | 113605762 | 113605869 |
| ENSE00001261885 | 113606178 | 113606282 |
| ENSE00001261911 | 113612234 | 113612431 |
| ENSE00001261999 | 113592194 | 113592301 |
| ENSE00001262032 | 113608414 | 113608512 |
| ENSE00001262041 | 113610459 | 113610563 |
| ENSE00001262778 | 113614183 | 113614296 |
| ENSE00001592743 | 113640227 | 113640331 |
| ENSE00001630506 | 113633084 | 113633188 |
| ENSE00001642561 | 113621869 | 113622180 |
| ENSE00001646224 | 113650037 | 113650141 |
| ENSE00001647111 | 113628917 | 113629021 |
| ENSE00001652323 | 113657470 | 113657574 |
| ENSE00001667008 | 113662679 | 113662766 |
| ENSE00001677119 | 113652935 | 113653039 |
| ENSE00001678417 | 113620604 | 113620708 |
| ENSE00001686637 | 113651803 | 113651907 |
| ENSE00001693574 | 113641365 | 113641472 |
| ENSE00001700565 | 113634112 | 113634210 |
| ENSE00001710908 | 113645825 | 113645941 |
| ENSE00001711307 | 113617455 | 113617553 |
| ENSE00001714490 | 113629588 | 113629785 |
| ENSE00001715014 | 113631857 | 113631964 |
| ENSE00001716571 | 113646923 | 113647027 |
| ENSE00001737976 | 113623529 | 113623636 |
| ENSE00001739721 | 113663352 | 113663446 |
| ENSE00001754148 | 113654021 | 113654125 |
| ENSE00001775177 | 113650438 | 113650545 |
| ENSE00001777613 | 113642934 | 113643038 |
| ENSE00001795267 | 113631509 | 113631610 |
| ENSE00001802729 | 113615712 | 113615816 |
| ENSE00001820208 | 113663811 | 113664041 |
| ENSE00002468570 | 113604609 | 113604920 |
| ENSE00002476564 | 113624826 | 113624930 |
| ENSE00002481899 | 113595623 | 113595727 |
| ENSE00002489081 | 113626047 | 113626145 |
| ENSE00002504515 | 113597086 | 113597184 |
| ENSE00002510093 | 113589666 | 113589797 |
| ENSE00002521283 | 113590578 | 113590889 |
| ENSE00002533044 | 113597969 | 113598073 |
| ENSE00003287753 | 113588714 | 113589079 |
Expression profiles
Bgee: expression breadth ubiquitous, 157 present calls, max score 99.85.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 6.2725 / max 2211.6433, expressed in 54 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 111459 | 6.2478 | 54 |
| 111453 | 0.0246 | 10 |
Top tissues by expression
279 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.85 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 99.60 | gold quality |
| gastrocnemius | UBERON:0001388 | 99.56 | gold quality |
| gluteal muscle | UBERON:0002000 | 99.56 | gold quality |
| apex of heart | UBERON:0002098 | 99.49 | gold quality |
| body of tongue | UBERON:0011876 | 99.48 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 99.32 | gold quality |
| triceps brachii | UBERON:0001509 | 98.95 | gold quality |
| diaphragm | UBERON:0001103 | 98.87 | gold quality |
| biceps brachii | UBERON:0001507 | 98.61 | gold quality |
| cardiac ventricle | UBERON:0002082 | 98.49 | gold quality |
| heart left ventricle | UBERON:0002084 | 98.49 | gold quality |
| heart right ventricle | UBERON:0002080 | 97.98 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 97.91 | gold quality |
| vastus lateralis | UBERON:0001379 | 97.76 | gold quality |
| right atrium auricular region | UBERON:0006631 | 97.65 | gold quality |
| cardiac atrium | UBERON:0002081 | 97.63 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 97.57 | gold quality |
| muscle of leg | UBERON:0001383 | 97.53 | gold quality |
| muscle organ | UBERON:0001630 | 97.50 | gold quality |
| quadriceps femoris | UBERON:0001377 | 96.90 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 96.88 | gold quality |
| myocardium | UBERON:0002349 | 96.27 | gold quality |
| deltoid | UBERON:0001476 | 95.94 | gold quality |
| tibialis anterior | UBERON:0001385 | 95.17 | silver quality |
| muscle tissue | UBERON:0002385 | 93.57 | gold quality |
| heart | UBERON:0000948 | 92.97 | gold quality |
| tongue | UBERON:0001723 | 92.32 | gold quality |
| vena cava | UBERON:0004087 | 90.77 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 90.02 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.62 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
13 targeting NRAP, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-3160-5P | 99.28 | 69.07 | 1938 |
| HSA-MIR-3191-5P | 99.24 | 66.52 | 1722 |
| HSA-MIR-6744-3P | 99.22 | 64.41 | 972 |
| HSA-MIR-4757-5P | 99.12 | 64.51 | 981 |
| HSA-MIR-6764-3P | 98.44 | 67.64 | 1153 |
| HSA-MIR-6824-3P | 98.44 | 67.62 | 1154 |
| HSA-MIR-4299 | 98.28 | 66.96 | 850 |
| HSA-MIR-3664-3P | 97.85 | 67.62 | 1452 |
| HSA-MIR-4456 | 97.50 | 64.88 | 1678 |
Literature-anchored findings (GeneRIF, showing 3)
- Highly conserved and exclusively expressed in cardiac and skeletal muscle. Candidate cause for cardiac and skeletal myopathies (PMID:12789664)
- Loss-of-function mutation in NRAP gene is associated with dilated cardiomyopathy. (PMID:28611399)
- Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy. (PMID:33534821)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nrap | ENSDARG00000009341 |
| mus_musculus | Nrap | ENSMUSG00000049134 |
| rattus_norvegicus | Nrap | ENSRNOG00000016714 |
| drosophila_melanogaster | Hil | FBGN0050147 |
| caenorhabditis_elegans | WBGENE00003089 |
Paralogs (4): LASP1 (ENSG00000002834), NEBL (ENSG00000078114), KY (ENSG00000174611), NEB (ENSG00000183091)
Protein
Protein identifiers
Nebulin-related-anchoring protein — Q86VF7 (reviewed: Q86VF7)
All UniProt accessions (2): A0A0A0MRM2, Q86VF7
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in anchoring the terminal actin filaments in the myofibril to the membrane and in transmitting tension from the myofibrils to the extracellular matrix.
Subunit / interactions. Interacts with actin, alpha-actinin, KLHL41, TLN1 and VCL. Interacts with CSRP3.
Tissue specificity. Expressed in cardiac and skeletal muscle.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q86VF7-1 | 1 | yes |
| Q86VF7-2 | 2 | |
| Q86VF7-3 | 3 | |
| Q86VF7-4 | 4 |
RefSeq proteins (4): NP_001248392, NP_001309874, NP_006166, NP_932326* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000900 | Nebulin_repeat | Repeat |
| IPR001781 | Znf_LIM | Domain |
| IPR013998 | Nebulin-like | Family |
| IPR055297 | NEBU/NEBL | Family |
Pfam: PF00412, PF00880
UniProt features (90 total): repeat 44, sequence variant 20, sequence conflict 19, splice variant 2, chain 1, domain 1, region of interest 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86VF7-F1 | 51.98 | 0.00 |
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 (1): 1081
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 98 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, FREAC2_01, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_CARDIAC_MYOFIBRIL_ASSEMBLY, TGACCTY_ERR1_Q2, GOBP_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_CARDIAC_MUSCLE_CELL_DIFFERENTIATION, GOBP_ACTOMYOSIN_STRUCTURE_ORGANIZATION, HNF4_01, GOBP_ORGANELLE_ASSEMBLY, PPAR_DR1_Q2, TATA_C
GO Biological Process (1): cardiac muscle thin filament assembly (GO:0071691)
GO Molecular Function (6): actin binding (GO:0003779), vinculin binding (GO:0017166), metal ion binding (GO:0046872), actin filament binding (GO:0051015), muscle alpha-actinin binding (GO:0051371), protein binding (GO:0005515)
GO Cellular Component (5): fascia adherens (GO:0005916), muscle tendon junction (GO:0005927), Z disc (GO:0030018), cytoplasm (GO:0005737), myofibril (GO:0030016)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoskeletal protein binding | 2 |
| cellular anatomical structure | 2 |
| actin filament organization | 1 |
| cardiac myofibril assembly | 1 |
| cation binding | 1 |
| actin binding | 1 |
| protein-containing complex binding | 1 |
| alpha-actinin binding | 1 |
| binding | 1 |
| cell-cell junction | 1 |
| intercalated disc | 1 |
| cell-substrate junction | 1 |
| I band | 1 |
| intracellular anatomical structure | 1 |
| contractile muscle fiber | 1 |
Protein interactions and networks
STRING
836 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NRAP | TRIM63 | Q969Q1 | 565 |
| NRAP | MYOT | Q9UBF9 | 518 |
| NRAP | NEB | P20929 | 478 |
| NRAP | KLHL41 | O60662 | 475 |
| NRAP | XIRP1 | Q702N8 | 463 |
| NRAP | DNAJC28 | Q9NX36 | 455 |
| NRAP | RYR2 | Q92736 | 430 |
| NRAP | TCAP | O15273 | 423 |
| NRAP | MYO10 | Q9HD67 | 416 |
| NRAP | ZYX | Q15942 | 415 |
| NRAP | CLMN | Q96JQ2 | 409 |
| NRAP | ZNF622 | Q969S3 | 409 |
| NRAP | TTN | Q8WZ42 | 406 |
| NRAP | XIRP2 | A4UGR9 | 384 |
| NRAP | TRIM54 | Q9BYV2 | 373 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ACTN2 | CSRP3 | psi-mi:“MI:0914”(association) | 0.690 |
| KLHL41 | NRAP | psi-mi:“MI:0915”(physical association) | 0.690 |
| KLHL41 | NRAP | psi-mi:“MI:0407”(direct interaction) | 0.690 |
| ACTN2 | NRAP | psi-mi:“MI:0407”(direct interaction) | 0.520 |
| CSRP3 | NRAP | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| NRAP | MAGT1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| KLHL41 | NRAP | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (16): NRAP (FRET), NRAP (Two-hybrid), KLHL41 (Affinity Capture-Western), NRAP (Affinity Capture-Western), MAGT1 (Proximity Label-MS), NRAP (Two-hybrid), NRAP (Reconstituted Complex), VCL (Reconstituted Complex), YWHAE (Cross-Linking-MS (XL-MS)), AGR2 (Cross-Linking-MS (XL-MS)), DNAJB1 (Cross-Linking-MS (XL-MS)), NRAP (Cross-Linking-MS (XL-MS)), NRAP (Cross-Linking-MS (XL-MS)), NRAP (Cross-Linking-MS (XL-MS)), NRAP (Two-hybrid)
ESM2 similar proteins: A6ZM93, A8WL28, B3LLS9, B5VPF9, C5DGV3, C5DX05, C7GL88, C8ZEN7, E7LYB2, H2KYS8, J7M799, O02828, O17389, O76041, O85041, P0CU45, P0CU46, P0CU48, P0CU50, P14317, P27321, P29172, P34549, P37397, P37801, P37806, P49710, P57786, P91859, P91927, Q01406, Q05050, Q09936, Q0II04, Q10195, Q15417, Q18879, Q24211, Q31HD7, Q32L92
Diamond homologs: B0KYV5, D4A1F2, F1LR10, F1MF74, F1QH17, F1QWK4, F1RA39, F6QZ15, G3MWR8, G5EF51, O04193, O60952, O77506, O80839, O94851, P21291, P29675, P36201, P47875, P50460, P50461, P50462, P50463, P52943, P53777, P67966, P67967, P97314, P97315, Q05158, Q0E908, Q0VFX8, Q14847, Q16527, Q1ECF5, Q1LZA7, Q32LE9, Q3B7M5, Q3MHY1, Q4KM31
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
443 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 11 |
| Uncertain significance | 236 |
| Likely benign | 72 |
| Benign | 100 |
Top pathogenic / likely-pathogenic (13)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1711905 | NM_198060.4(NRAP):c.400_407del (p.Cys134fs) | Pathogenic |
| 2579962 | NM_198060.4(NRAP):c.3109C>T (p.Arg1037Ter) | Pathogenic |
| 1699323 | NM_198060.4(NRAP):c.3301-2A>G | Likely pathogenic |
| 2080715 | NM_198060.4(NRAP):c.3604-2A>C | Likely pathogenic |
| 2629310 | NM_198060.4(NRAP):c.1843-2A>G | Likely pathogenic |
| 3346392 | NM_198060.4(NRAP):c.619del (p.Val207fs) | Likely pathogenic |
| 3372657 | NM_198060.4(NRAP):c.4219C>T (p.Gln1407Ter) | Likely pathogenic |
| 3894990 | NM_198060.4(NRAP):c.3099G>A (p.Trp1033Ter) | Likely pathogenic |
| 3895320 | NM_198060.4(NRAP):c.4197G>A (p.Trp1399Ter) | Likely pathogenic |
| 4278443 | NM_198060.4(NRAP):c.2244+1G>A | Likely pathogenic |
| 4820403 | NM_198060.4(NRAP):c.994-1G>T | Likely pathogenic |
| 4820486 | NM_198060.4(NRAP):c.4206del (p.Ala1403fs) | Likely pathogenic |
| 4820505 | NM_198060.4(NRAP):c.3078+1G>T | Likely pathogenic |
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
11556 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:113617484:C:G | A982P | 0.995 |
| 10:113617518:A:C | F970L | 0.995 |
| 10:113617518:A:T | F970L | 0.995 |
| 10:113617520:A:G | F970L | 0.995 |
| 10:113634141:C:G | A500P | 0.995 |
| 10:113617543:C:G | R962P | 0.992 |
| 10:113624843:C:G | A778P | 0.991 |
| 10:113624855:C:G | A774P | 0.990 |
| 10:113626110:G:C | F727L | 0.989 |
| 10:113626110:G:T | F727L | 0.989 |
| 10:113626112:A:G | F727L | 0.989 |
| 10:113634129:C:G | A504P | 0.988 |
| 10:113663429:A:C | C30W | 0.985 |
| 10:113646952:C:G | A322P | 0.984 |
| 10:113663413:A:G | C36R | 0.984 |
| 10:113615715:A:C | S1025R | 0.983 |
| 10:113615715:A:T | S1025R | 0.983 |
| 10:113615717:T:G | S1025R | 0.983 |
| 10:113617544:G:T | R962S | 0.983 |
| 10:113628979:A:G | W695R | 0.983 |
| 10:113628979:A:T | W695R | 0.983 |
| 10:113663411:G:C | C36W | 0.983 |
| 10:113592197:A:C | S1547R | 0.982 |
| 10:113592197:A:T | S1547R | 0.982 |
| 10:113592199:T:G | S1547R | 0.982 |
| 10:113634115:A:C | S508R | 0.982 |
| 10:113634115:A:T | S508R | 0.982 |
| 10:113634117:T:G | S508R | 0.982 |
| 10:113663431:A:G | C30R | 0.982 |
| 10:113617519:A:G | F970S | 0.981 |
dbSNP variants (sampled 300 via entrez): RS1000087445 (10:113603174 G>A), RS1000130512 (10:113637848 G>A), RS1000198500 (10:113608324 G>A,T), RS1000223466 (10:113602117 A>G,T), RS1000249683 (10:113609375 A>T), RS1000286707 (10:113654602 A>G), RS1000292473 (10:113644649 A>G), RS1000313250 (10:113648780 T>G), RS1000349931 (10:113626776 G>A,C,T), RS1000442027 (10:113654340 A>T), RS1000477956 (10:113609778 G>A), RS1000488496 (10:113614414 G>A), RS1000534581 (10:113591634 T>C,G), RS1000598582 (10:113649043 G>C), RS1000622500 (10:113661651 C>G,T)
Disease associations
OMIM: gene MIM:602873 | disease phenotypes: MIM:618225
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| dilated cardiomyopathy | Strong | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| dilated cardiomyopathy | Strong | AR |
Mondo (2): dilated cardiomyopathy (MONDO:0005021), mitochondrial complex I deficiency, nuclear type 4 (MONDO:0032609)
Orphanet (1): Dilated cardiomyopathy (Orphanet:217604)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0001644 | Dilated cardiomyopathy |
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| 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
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Doxorubicin | decreases expression | 4 |
| Benzo(a)pyrene | affects methylation, increases expression, increases methylation | 3 |
| Daunorubicin | decreases expression | 2 |
| Mitoxantrone | decreases expression | 2 |
| terbufos | increases methylation | 1 |
| sodium arsenite | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases reaction, increases expression, decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2,7-dihydroxynaphthalene | decreases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Resveratrol | decreases expression, affects cotreatment | 1 |
| Sunitinib | decreases expression | 1 |
| Fonofos | increases methylation | 1 |
| Endosulfan | decreases expression | 1 |
| Etoposide | decreases expression | 1 |
| Lipopolysaccharides | increases expression, decreases reaction | 1 |
| Methapyrilene | increases methylation | 1 |
| Parathion | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Dronabinol | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Cadmium Chloride | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
Clinical trials (associated diseases)
158 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 |
| 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 |
| NCT00629018 | PHASE2 | COMPLETED | Safety and Efficacy Study of Stem Cell Transplantation to Treat Dilated Cardiomyopathy |
| NCT00629096 | PHASE2 | COMPLETED | Intracoronary Infusion of Autologous Bone Marrow Cells for Treatment of Idiopathic Dilated Cardiomyopathy |
| NCT00765518 | PHASE2 | COMPLETED | Use of Ixmyelocel-T (Formerly Cardiac Repair Cell [CRC] Treatment) in Patients With Heart Failure Due to Dilated Cardiomyopathy (IMPACT-DCM) |
| NCT00847964 | PHASE2 | COMPLETED | Safety and Feasibility of Algisyl-LVR™ as a Method of Left Ventricular Restoration in Patients With DCM Undergoing Open-heart Surgery |
| NCT01020968 | PHASE2 | COMPLETED | Use of Ixmyelocel-T (Formerly Catheter-based Cardiac Repair Cell [CRC]) Treatment in Patients With Heart Failure Due to Dilated Cardiomyopathy |
| NCT01302171 | PHASE2 | COMPLETED | Bone Marrow Derived Adult Stem Cells for Dilated Cardiomyopathy |
| NCT01350310 | PHASE2 | COMPLETED | Safety and Efficacy Study of Intramyocardial Stem Cell Therapy in Patients With Dilated Cardiomyopathy |
| NCT02133911 | PHASE2 | COMPLETED | A Pilot Trial of Ranolazine to Treat Patients With Dilated Cardiomyopathy |
| NCT03071653 | PHASE2 | SUSPENDED | Left Cardiac Sympathetic Denervation for Cardiomyopathy Feasibility Pilot Study |
| NCT03572660 | PHASE2 | ACTIVE_NOT_RECRUITING | Use of Bone Marrow Derived Stem Cell and G-CSF With Circulatory Assistance in the Treatment of DCM |
| NCT03775070 | PHASE2 | COMPLETED | Simvastatin Therapy in Patients With Dilated Cardiomyopathy. |
| NCT04405804 | PHASE2 | UNKNOWN | Early Administration of Ivabradine in Children With Heart Failure |
| NCT05410873 | PHASE2 | COMPLETED | Examining the Effects of Mitochondrial Oxidative Stress in DCM |
| NCT06632834 | PHASE2 | RECRUITING | Outcome-targeted Therapy: Principle and Outcome Evaluation: Clinical Study and Phenotype-genotype Correlation |
| NCT00585546 | PHASE1 | TERMINATED | Harefield Recovery Protocol Study for Patients With Refractory Chronic Heart Failure |
| NCT02293603 | PHASE1 | UNKNOWN | Dilated cardiomYopathy iNtervention With Allogeneic MyocardIally-regenerative Cells (DYNAMIC) |
| NCT03062956 | PHASE1 | COMPLETED | A Single Ascending Dose Study Assessing the Safety, Tolerability, PK and PD of MYK-491 |
| NCT03129568 | PHASE1 | COMPLETED | Transcoronary Infusion of Cardiac Progenitor Cells in Pediatric Dilated Cardiomyopathy |
| NCT04982081 | PHASE1 | UNKNOWN | Treating Congestive HF With hiPSC-CMs Through Endocardial Injection |
| NCT06381466 | PHASE1 | TERMINATED | A Study to Investigate Safety, Tolerability, and Pharmacokinetics of Oral AZD0233 Compared With Placebo in Healthy Adult Participants. |
| NCT06464588 | PHASE1 | RECRUITING | A Phase 1 Open-Label Study of the Safety of Intravenous Allogeneic Neonatal Mesenchymal Cells (nMSCs) in Young Adult (1A) and Pediatric (1B) Patients With Dilated Cardiomyopathy (DCM) |
| NCT06902896 | PHASE1 | COMPLETED | Safety and Efficacy of FAP iCDC in End-stage Dilated Cardiomyopathy |
| NCT07137338 | PHASE1 | RECRUITING | A Phase 1 AAV Gene Therapy Trial Evaluating Safety and Preliminary Efficacy of RP-A701 in Subjects With BAG3 Dilated Cardiomyopathy |
| NCT07241104 | PHASE1 | RECRUITING | A Study of AZD4063 in PLN R14del Dilated Cardiomyopathy |
Related Atlas pages
- Associated diseases: dilated cardiomyopathy
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): dilated cardiomyopathy, mitochondrial complex I deficiency, nuclear type 4