PTCD1
geneOn this page
Also known as KIAA0632
Summary
PTCD1 (pentatricopeptide repeat domain 1, HGNC:22198) is a protein-coding gene on chromosome 7q22.1, encoding Pentatricopeptide repeat-containing protein 1, mitochondrial (O75127). Mitochondrial protein implicated in negative regulation of leucine tRNA levels, as well as negative regulation of mitochondria-encoded proteins and COX activity. It is a selective cancer dependency (DepMap: 29.3% of cell lines).
This gene encodes a mitochondrial protein that binds leucine tRNAs and other mitochondrial RNAs and plays a role in the regulation of translation. Increased expression of this gene results in decreased mitochondrial leucine tRNA levels. Naturally occurring read-through transcription exists between upstream ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and this gene.
Source: NCBI Gene 26024 — RefSeq curated summary.
At a glance
- Gene–disease (curated): cardiomyopathy (Limited, GenCC)
- GWAS associations: 5
- Cancer dependency (DepMap): dependent in 29.3% of screened cell lines
- MANE Select transcript:
NM_015545
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:22198 |
| Approved symbol | PTCD1 |
| Name | pentatricopeptide repeat domain 1 |
| Location | 7q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0632 |
| Ensembl gene | ENSG00000106246 |
| Ensembl biotype | protein_coding |
| OMIM | 614774 |
| Entrez | 26024 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 15 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000292478, ENST00000419981, ENST00000430029, ENST00000430982, ENST00000485746, ENST00000910799, ENST00000910800, ENST00000910801, ENST00000926564, ENST00000926565, ENST00000926566, ENST00000926567, ENST00000926568, ENST00000926569, ENST00000926570, ENST00000966185
RefSeq mRNA: 1 — MANE Select: NM_015545
NM_015545
CCDS: CCDS34691
Canonical transcript exons
ENST00000292478 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001839415 | 99438692 | 99438798 |
| ENSE00001958361 | 99416739 | 99420149 |
| ENSE00003491490 | 99429103 | 99429204 |
| ENSE00003508384 | 99433278 | 99433418 |
| ENSE00003528896 | 99423775 | 99423957 |
| ENSE00003615083 | 99429588 | 99429806 |
| ENSE00003649149 | 99424795 | 99425616 |
| ENSE00003674826 | 99434790 | 99435268 |
Expression profiles
Bgee: expression breadth ubiquitous, 273 present calls, max score 96.32.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 206.6924 / max 2797.7887, expressed in 1828 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 85107 | 206.6924 | 1828 |
| 85103 | 4.3517 | 1634 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 96.32 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 91.30 | gold quality |
| parotid gland | UBERON:0001831 | 90.93 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 89.72 | silver quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 87.61 | gold quality |
| olfactory bulb | UBERON:0002264 | 86.83 | gold quality |
| gluteal muscle | UBERON:0002000 | 86.75 | gold quality |
| diaphragm | UBERON:0001103 | 86.66 | gold quality |
| biceps brachii | UBERON:0001507 | 86.27 | gold quality |
| gingival epithelium | UBERON:0001949 | 85.98 | gold quality |
| endothelial cell | CL:0000115 | 85.97 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 85.31 | gold quality |
| vastus lateralis | UBERON:0001379 | 84.94 | silver quality |
| middle temporal gyrus | UBERON:0002771 | 84.84 | gold quality |
| oviduct epithelium | UBERON:0004804 | 84.80 | silver quality |
| hair follicle | UBERON:0002073 | 84.42 | gold quality |
| squamous epithelium | UBERON:0006914 | 84.19 | silver quality |
| quadriceps femoris | UBERON:0001377 | 84.16 | silver quality |
| cervix epithelium | UBERON:0004801 | 83.75 | silver quality |
| heart right ventricle | UBERON:0002080 | 83.64 | silver quality |
| type B pancreatic cell | CL:0000169 | 83.59 | gold quality |
| gingiva | UBERON:0001828 | 83.47 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 83.44 | silver quality |
| pancreatic ductal cell | CL:0002079 | 83.43 | silver quality |
| body of tongue | UBERON:0011876 | 83.17 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 83.13 | silver quality |
| superficial temporal artery | UBERON:0001614 | 82.92 | silver quality |
| thymus | UBERON:0002370 | 82.78 | silver quality |
| epithelium of esophagus | UBERON:0001976 | 82.73 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 82.71 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.59 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
75 targeting PTCD1, 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-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-3934-5P | 99.67 | 64.04 | 846 |
| HSA-MIR-4470 | 99.66 | 69.35 | 1767 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-6132 | 99.60 | 65.83 | 1554 |
| HSA-MIR-6836-5P | 99.60 | 65.62 | 1538 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-4437 | 99.52 | 65.29 | 1266 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-6727-3P | 99.49 | 65.92 | 1333 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-504-3P | 99.30 | 67.18 | 1745 |
| HSA-MIR-3064-5P | 99.26 | 66.13 | 1497 |
| HSA-MIR-3085-3P | 99.26 | 66.16 | 1490 |
| HSA-MIR-6504-5P | 99.26 | 65.95 | 1487 |
| HSA-MIR-149-5P | 99.25 | 67.16 | 1315 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 29.3% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- ELAC2 and PTCD1 affect the 3’ end processing of tRNAs. (PMID:21857155)
- Leucine starvation decreased PTCD1 on the protein level. (PMID:24710704)
- reduced PTCD1 activity disrupts neuronal energy homeostasis and dampens spontaneous neural transmission in Alzheimer’s Disease (PMID:30948477)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ptcd1 | ENSDARG00000076176 |
| mus_musculus | Ptcd1 | ENSMUSG00000029624 |
| rattus_norvegicus | Ptcd1 | ENSRNOG00000000987 |
Paralogs (1): OGFOD2 (ENSG00000111325)
Protein
Protein identifiers
Pentatricopeptide repeat-containing protein 1, mitochondrial — O75127 (reviewed: O75127)
All UniProt accessions (5): O75127, A4D273, C9JGL8, C9JQN9, C9JWL7
UniProt curated annotations — full annotation on UniProt →
Function. Mitochondrial protein implicated in negative regulation of leucine tRNA levels, as well as negative regulation of mitochondria-encoded proteins and COX activity. Also affects the 3’-processing of mitochondrial tRNAs.
Subunit / interactions. Associates with mitochondrial leucine tRNAs. Interacts with ELAC2.
Subcellular location. Mitochondrion. Mitochondrion matrix.
Tissue specificity. Abundant in testes, skeletal muscle and heart.
Similarity. Belongs to the PTCD1 family.
RefSeq proteins (1): NP_056360* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002885 | PPR_rpt | Repeat |
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR033443 | PROP1-like_PPR_dom | Domain |
Pfam: PF13812, PF17177
UniProt features (19 total): repeat 9, region of interest 3, compositionally biased region 3, sequence variant 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75127-F1 | 68.41 | 0.31 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 120 (showing top):
GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, WANG_CLIM2_TARGETS_UP, GOBP_TRNA_METABOLIC_PROCESS, GOBP_RNA_MODIFICATION, GOBP_MITOCHONDRIAL_RNA_METABOLIC_PROCESS, MODULE_397, GOBP_TRNA_PROCESSING, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, GOCC_MITOCHONDRIAL_MATRIX, GOMF_TRNA_BINDING, GOMF_RRNA_BINDING, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, BRUINS_UVC_RESPONSE_MIDDLE, GOBP_TRNA_3_END_PROCESSING, GOBP_MITOCHONDRIAL_RNA_MODIFICATION
GO Biological Process (3): mitochondrial translation (GO:0032543), tRNA 3’-end processing (GO:0042780), tRNA processing (GO:0008033)
GO Molecular Function (3): tRNA binding (GO:0000049), RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| mitochondrion | 2 |
| translation | 1 |
| mitochondrial gene expression | 1 |
| tRNA processing | 1 |
| RNA 3’-end processing | 1 |
| RNA processing | 1 |
| tRNA metabolic process | 1 |
| RNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular organelle lumen | 1 |
Protein interactions and networks
STRING
1855 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PTCD1 | FASTKD3 | Q14CZ7 | 802 |
| PTCD1 | NGRN | Q9NPE2 | 761 |
| PTCD1 | PTCD2 | Q8WV60 | 736 |
| PTCD1 | RPUSD4 | Q96CM3 | 729 |
| PTCD1 | FASTKD2 | Q9NYY8 | 729 |
| PTCD1 | RPUSD3 | Q6P087 | 728 |
| PTCD1 | PTCD3 | Q96EY7 | 724 |
| PTCD1 | PRORP | O15091 | 704 |
| PTCD1 | LRPPRC | P42704 | 685 |
| PTCD1 | TRMT10C | Q7L0Y3 | 638 |
| PTCD1 | MALSU1 | Q96EH3 | 633 |
| PTCD1 | MTERF3 | Q96E29 | 632 |
| PTCD1 | MRPS27 | Q92552 | 632 |
| PTCD1 | POLRMT | O00411 | 629 |
| PTCD1 | TRUB2 | O95900 | 616 |
IntAct
177 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| FAM120A | SYNCRIP | psi-mi:“MI:0914”(association) | 0.640 |
| DDX3X | psi-mi:“MI:0914”(association) | 0.630 | |
| PTCD1 | GEMIN4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PTCD1 | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PTCD1 | CARD10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PTCD1 | FKBP7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PTCD1 | SYP | psi-mi:“MI:0915”(physical association) | 0.560 |
| PTCD1 | NFKBID | psi-mi:“MI:0915”(physical association) | 0.560 |
| PTCD1 | MTUS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.550 |
| MRPL50 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF324B | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL6 | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| RBMX | PTCD1 | psi-mi:“MI:0914”(association) | 0.530 |
| DDX28 | PTCD1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| FBXW11 | AHCYL1 | psi-mi:“MI:0914”(association) | 0.530 |
| HNRNPA1 | PTCD1 | psi-mi:“MI:0914”(association) | 0.530 |
| IGF2BP3 | PTCD1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL13 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| ILF2 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (173): PTCD1 (Affinity Capture-RNA), PTCD1 (Affinity Capture-RNA), PTCD1 (Affinity Capture-RNA), PTCD1 (Affinity Capture-MS), PTCD1 (Affinity Capture-MS), PTCD1 (Affinity Capture-MS), PTCD1 (Affinity Capture-MS), PTCD1 (Affinity Capture-MS), PTCD1 (Affinity Capture-MS), PTCD1 (Affinity Capture-MS), PTCD1 (Affinity Capture-MS), PTCD1 (Affinity Capture-MS), PTCD1 (Affinity Capture-MS), PTCD1 (Affinity Capture-MS), PTCD1 (Affinity Capture-MS)
ESM2 similar proteins: A2VD13, A6QP29, A7E3N7, B5DFG1, O75127, P54098, P54099, Q05AA6, Q13474, Q3SX05, Q3SZK4, Q3TYG6, Q3U0L2, Q3U5Q7, Q3URY6, Q3ZBK7, Q4R5Q4, Q53GS7, Q58CQ5, Q5R655, Q5RAS2, Q66H85, Q6NUQ4, Q6ZUX3, Q7YS91, Q80UU1, Q8BKF1, Q8BL74, Q8C0R7, Q8C1F5, Q8C2E4, Q8CJ00, Q8N4P6, Q8R322, Q8TE82, Q969Z0, Q96KN7, Q96MK2, Q99MQ3, Q9BQ95
Diamond homologs: A2VD13, O75127, Q5R655, Q8C2E4, Q9SVP7
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 144 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 |
|---|---|---|---|
| Mitochondrial ribosome-associated quality control | 22 | 27.6× | 7e-24 |
| Mitochondrial translation initiation | 19 | 24.6× | 9e-20 |
| Mitochondrial translation elongation | 19 | 24.6× | 9e-20 |
| Mitochondrial translation | 17 | 23.9× | 2e-17 |
| Transport of Mature Transcript to Cytoplasm | 6 | 23.3× | 4e-06 |
| Mitochondrial translation termination | 19 | 21.3× | 1e-18 |
| RNA Polymerase II Transcription Termination | 6 | 13.4× | 1e-04 |
| Processing of Capped Intron-Containing Pre-mRNA | 15 | 12.6× | 3e-11 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial large ribosomal subunit assembly | 8 | 62.4× | 5e-11 |
| positive regulation of mitochondrial translation | 5 | 44.2× | 6e-06 |
| positive regulation of cytoplasmic translation | 5 | 39.0× | 9e-06 |
| negative regulation of mRNA splicing, via spliceosome | 5 | 30.2× | 3e-05 |
| mitochondrial translation | 21 | 28.7× | 2e-22 |
| regulation of alternative mRNA splicing, via spliceosome | 9 | 17.3× | 3e-07 |
| RNA processing | 8 | 13.8× | 9e-06 |
| negative regulation of translation | 7 | 10.8× | 2e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
0 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5163 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:99417423:T:A | acceptor_gain | 1.0000 |
| 7:99417425:ACAG:A | acceptor_loss | 1.0000 |
| 7:99417426:CAGA:C | acceptor_loss | 1.0000 |
| 7:99417427:A:AG | acceptor_gain | 1.0000 |
| 7:99417428:G:GG | acceptor_gain | 1.0000 |
| 7:99417428:GA:G | acceptor_gain | 1.0000 |
| 7:99417428:GAA:G | acceptor_gain | 1.0000 |
| 7:99417428:GAAC:G | acceptor_gain | 1.0000 |
| 7:99417428:GAACT:G | acceptor_gain | 1.0000 |
| 7:99417583:C:T | donor_gain | 1.0000 |
| 7:99417590:G:GT | donor_gain | 1.0000 |
| 7:99417590:G:T | donor_gain | 1.0000 |
| 7:99417592:AGTG:A | donor_loss | 1.0000 |
| 7:99417593:GTG:G | donor_gain | 1.0000 |
| 7:99417593:GTGGT:G | donor_loss | 1.0000 |
| 7:99417595:GGTA:G | donor_loss | 1.0000 |
| 7:99417596:G:GA | donor_loss | 1.0000 |
| 7:99417597:T:C | donor_loss | 1.0000 |
| 7:99417615:C:G | donor_gain | 1.0000 |
| 7:99420150:C:CC | acceptor_gain | 1.0000 |
| 7:99423795:A:AC | donor_gain | 1.0000 |
| 7:99423796:C:CC | donor_gain | 1.0000 |
| 7:99423796:CTGGG:C | donor_gain | 1.0000 |
| 7:99423830:T:TA | donor_gain | 1.0000 |
| 7:99424790:CTCA:C | donor_loss | 1.0000 |
| 7:99424791:TCA:T | donor_loss | 1.0000 |
| 7:99424792:CACCT:C | donor_loss | 1.0000 |
| 7:99424793:A:AT | donor_loss | 1.0000 |
| 7:99424794:C:CT | donor_loss | 1.0000 |
| 7:99425613:ACACC:A | acceptor_loss | 1.0000 |
AlphaMissense
4558 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:99420089:A:G | W661R | 0.995 |
| 7:99420089:A:T | W661R | 0.995 |
| 7:99420109:A:G | F654S | 0.994 |
| 7:99420108:G:C | F654L | 0.993 |
| 7:99420108:G:T | F654L | 0.993 |
| 7:99420110:A:G | F654L | 0.993 |
| 7:99433347:G:C | N175K | 0.992 |
| 7:99433347:G:T | N175K | 0.992 |
| 7:99420106:C:G | R655P | 0.991 |
| 7:99423812:A:G | L628P | 0.988 |
| 7:99433288:A:G | L195P | 0.988 |
| 7:99424847:G:T | A562D | 0.986 |
| 7:99433325:A:G | C183R | 0.986 |
| 7:99420087:C:A | W661C | 0.985 |
| 7:99420087:C:G | W661C | 0.985 |
| 7:99433384:A:G | M163T | 0.985 |
| 7:99429757:A:G | F215S | 0.984 |
| 7:99433336:A:T | L179Q | 0.984 |
| 7:99429700:A:G | L234P | 0.983 |
| 7:99429749:A:G | C218R | 0.983 |
| 7:99429760:A:G | L214P | 0.983 |
| 7:99434816:A:G | C143R | 0.983 |
| 7:99424811:A:G | L574P | 0.982 |
| 7:99429760:A:T | L214Q | 0.982 |
| 7:99433336:A:C | L179R | 0.982 |
| 7:99433409:C:G | A155P | 0.982 |
| 7:99424848:C:G | A562P | 0.981 |
| 7:99429640:A:G | L254P | 0.981 |
| 7:99420098:A:C | Y658D | 0.980 |
| 7:99420085:A:G | L662P | 0.979 |
dbSNP variants (sampled 300 via entrez): RS1000026358 (7:99416421 T>C,G), RS1000236639 (7:99440373 CAG>C), RS1000426419 (7:99428196 G>A), RS1000565565 (7:99433527 G>A), RS1000581513 (7:99433121 C>T), RS1000597971 (7:99433763 C>G), RS1000661242 (7:99426192 C>T), RS1000711537 (7:99438279 C>T), RS1001187819 (7:99438586 C>A,T), RS1001362260 (7:99417983 C>G,T), RS1001412116 (7:99422210 C>T), RS1001426958 (7:99419279 T>C), RS1001435506 (7:99417746 A>G), RS1001584593 (7:99422939 T>C), RS1001665265 (7:99423113 G>A)
Disease associations
OMIM: gene MIM:614774 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| cardiomyopathy | Limited | Autosomal recessive |
Mondo (1): cardiomyopathy (MONDO:0004994)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004730_2 | Facial emotion recognition (sad faces) | 3.000000e-06 |
| GCST005144_1 | Tacrolimus trough concentration in kidney transplant patients | 2.000000e-17 |
| GCST010988_163 | Adult body size | 7.000000e-15 |
| GCST90002389_160 | Lymphocyte percentage of white cells | 4.000000e-16 |
| GCST90002399_184 | Neutrophil percentage of white cells | 2.000000e-15 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008329 | facial emotion recognition measurement |
| EFO:0008458 | tacrolimus measurement |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0007990 | neutrophil percentage of leukocytes |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D009202 | Cardiomyopathies | C14.280.238 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
13 total (human), top 13 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| bisphenol A | increases expression | 1 |
| tetrabromobisphenol A | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Copper Sulfate | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| 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 |
| 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 |
| NCT00626028 | PHASE3 | COMPLETED | Comparison of Inhaled Nitric Oxide and Oxygen in Participants Reactivity During Acute Pulmonary Vasodilator Testing |
| NCT01013714 | PHASE3 | UNKNOWN | Cardiac Sympathetic Denervation for Prevention of Ventricular Tachyarrhythmias |
| NCT01217827 | PHASE3 | COMPLETED | Implantable Cardioverter-Defibrillator Use in the VA System |
| NCT01648634 | PHASE3 | COMPLETED | Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy |
| NCT02924285 | PHASE3 | COMPLETED | Catheter Ablation Versus Amiodarone for Therapy of Premature Ventricular Contractions in Patients With Structural Heart Disease |
| NCT03860935 | PHASE3 | COMPLETED | Efficacy and Safety of AG10 in Subjects With Transthyretin Amyloid Cardiomyopathy |
| NCT04166331 | PHASE3 | COMPLETED | Adjunctive DobutAmine in sePtic Cardiomyopathy With Tissue Hypoperfusion |
| NCT05175066 | PHASE3 | COMPLETED | Bisoprolol Administration to Prevent Anthracycline-induced Cardiotoxicity |
| NCT05237323 | PHASE3 | COMPLETED | Micophenolate Mofetil Versus Azathioprine in Myocarditis |
| NCT06158698 | PHASE3 | RECRUITING | CMP-MYTHiC Trial and Registry - CardioMyoPathy With MYocarditis THerapy With Colchicine |
| NCT06563895 | PHASE3 | RECRUITING | Acoramidis Transthyretin Amyloidosis Prevention Trial in the Young (ACT-EARLY) Study in Asymptomatic Carriers of a Pathogenic TTR Variant |
| NCT06846086 | PHASE3 | RECRUITING | Cardioprotective Effects of Melatonin in Patients With Cardiomyopathy |
| NCT07116473 | PHASE3 | NOT_YET_RECRUITING | To Evaluate the Long-term Safety and Tolerability of Acoramidis in Participants With Newly Diagnosed ATTR-CM (ACT-EARLY OLE) |
| NCT00185250 | PHASE2 | COMPLETED | Betaferon/ Betaseron (Interferon Beta-1b) in Patients With Chronic Viral Cardiomyopathy |
| NCT00490347 | PHASE2 | COMPLETED | VentrAssistTM LVAD as a Bridge to Cardiac Transplantation - Feasibility Trial |
| NCT00694161 | PHASE2 | COMPLETED | The Effects Of Fx-1006A On Transthyretin Stabilization And Clinical Outcome Measures In Patients With V122I Or Wild-Type TTR Amyloid Cardiomyopathy |
Related Atlas pages
- Associated diseases: cardiomyopathy
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cardiomyopathy