PPCS
gene geneOn this page
Also known as FLJ11838
Summary
PPCS (phosphopantothenoylcysteine synthetase, HGNC:25686) is a protein-coding gene on chromosome 1p34.2, encoding Phosphopantothenate–cysteine ligase (Q9HAB8). Catalyzes the second step in the biosynthesis of coenzyme A from vitamin B5, where cysteine is conjugated to 4’-phosphopantothenate to form 4-phosphopantothenoylcysteine. It is a selective cancer dependency (DepMap: 16.6% of cell lines).
Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCS (EC 6.3.2.5), one of the last enzymes in this pathway, converts phosphopantothenate to phosphopantothenoylcysteine (Daugherty et al., 2002 [PubMed 11923312]).
Source: NCBI Gene 79717 — RefSeq curated summary.
At a glance
- Gene–disease (curated): cardiomyopathy, dilated, 2c (Strong, GenCC) — +1 more curated relationship
- Clinical variants (ClinVar): 40 total
- Phenotypes (HPO): 23
- Cancer dependency (DepMap): dependent in 16.6% of screened cell lines
- MANE Select transcript:
NM_024664
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25686 |
| Approved symbol | PPCS |
| Name | phosphopantothenoylcysteine synthetase |
| Location | 1p34.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ11838 |
| Ensembl gene | ENSG00000127125 |
| Ensembl biotype | protein_coding |
| OMIM | 609853 |
| Entrez | 79717 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 5 protein_coding, 4 protein_coding_CDS_not_defined
ENST00000372556, ENST00000372560, ENST00000372561, ENST00000372562, ENST00000469615, ENST00000471420, ENST00000472013, ENST00000482168, ENST00000933676
RefSeq mRNA: 7 — MANE Select: NM_024664
NM_001077447, NM_001287506, NM_001287508, NM_001287509, NM_001287510, NM_001287511, NM_024664
CCDS: CCDS41311, CCDS41312
Canonical transcript exons
ENST00000372561 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001901576 | 42456543 | 42457073 |
| ENSE00003519305 | 42459603 | 42461236 |
| ENSE00003645615 | 42457247 | 42457350 |
Expression profiles
Bgee: expression breadth ubiquitous, 281 present calls, max score 97.05.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 38.4210 / max 287.8256, expressed in 1824 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 2457 | 38.4210 | 1824 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right adrenal gland cortex | UBERON:0035827 | 97.05 | gold quality |
| body of pancreas | UBERON:0001150 | 97.04 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.91 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.88 | gold quality |
| rectum | UBERON:0001052 | 96.82 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 96.70 | gold quality |
| monocyte | CL:0000576 | 96.61 | gold quality |
| mononuclear cell | CL:0000842 | 96.49 | gold quality |
| leukocyte | CL:0000738 | 96.44 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.38 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.16 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.04 | gold quality |
| body of stomach | UBERON:0001161 | 96.02 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.02 | gold quality |
| gall bladder | UBERON:0002110 | 95.98 | gold quality |
| tendon | UBERON:0000043 | 95.79 | gold quality |
| transverse colon | UBERON:0001157 | 95.79 | gold quality |
| minor salivary gland | UBERON:0001830 | 95.72 | gold quality |
| right coronary artery | UBERON:0001625 | 95.47 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 95.41 | gold quality |
| pancreas | UBERON:0001264 | 95.39 | gold quality |
| granulocyte | CL:0000094 | 95.35 | gold quality |
| adrenal cortex | UBERON:0001235 | 95.35 | gold quality |
| adrenal gland | UBERON:0002369 | 95.33 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 95.30 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 95.25 | gold quality |
| skin of abdomen | UBERON:0001416 | 95.04 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 95.00 | gold quality |
| left coronary artery | UBERON:0001626 | 94.96 | gold quality |
| esophagus mucosa | UBERON:0002469 | 94.90 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-10 | no | 496.16 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
69 targeting PPCS, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-4639-5P | 99.81 | 67.37 | 1028 |
| HSA-MIR-489-3P | 99.80 | 66.46 | 839 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-320A-3P | 99.77 | 69.73 | 2107 |
| HSA-MIR-320B | 99.77 | 69.73 | 2107 |
| HSA-MIR-320C | 99.77 | 69.73 | 2107 |
| HSA-MIR-320D | 99.77 | 69.73 | 2107 |
| HSA-MIR-4429 | 99.77 | 69.62 | 2111 |
| HSA-MIR-7856-5P | 99.75 | 69.99 | 2901 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 16.6% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- Oxygen transfer studies found that 18O from [carboxyl-18O] phosphopantothenate is incorporated into AMP or CMP produced during PPCS catalysis, consistent with the formation of a phosphopantothenoyl cytidylate or phosphopantothenoyl adenylate intermediate (PMID:19683078)
- Exome sequencing in five individuals from two unrelated families presenting with dilated cardiomyopathy revealed biallelic mutations in PPCS. (PMID:29754768)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ppcs | ENSDARG00000061889 |
| mus_musculus | Ppcs | ENSMUSG00000028636 |
| rattus_norvegicus | Ppcs | ENSRNOG00000008572 |
| drosophila_melanogaster | Ppcs | FBGN0261285 |
| caenorhabditis_elegans | WBGENE00022171 |
Paralogs (4): CNIH1 (ENSG00000100528), CNIH4 (ENSG00000143771), CNIH3 (ENSG00000143786), CNIH2 (ENSG00000174871)
Protein
Protein identifiers
Phosphopantothenate–cysteine ligase — Q9HAB8 (reviewed: Q9HAB8)
Alternative names: Phosphopantothenoylcysteine synthetase
All UniProt accessions (3): Q9HAB8, Q5VVM2, Q5VVM3
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the second step in the biosynthesis of coenzyme A from vitamin B5, where cysteine is conjugated to 4’-phosphopantothenate to form 4-phosphopantothenoylcysteine. Has a preference for ATP over CTP as a cosubstrate.
Subunit / interactions. Homodimer.
Disease relevance. Cardiomyopathy, dilated, 2C (CMD2C) [MIM:618189] 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. CMD2C is an autosomal recessive form with variable severity and age of onset ranging from 2 to 20 years. Death in infancy or early childhood may occur in severely affected children. The disease is caused by variants affecting the gene represented in this entry.
Pathway. Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 2/5.
Similarity. Belongs to the PPC synthetase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9HAB8-1 | 1 | yes |
| Q9HAB8-2 | 2 |
RefSeq proteins (7): NP_001070915, NP_001274435, NP_001274437, NP_001274438, NP_001274439, NP_001274440, NP_078940* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007085 | DNA/pantothenate-metab_flavo_C | Domain |
| IPR035929 | CoaB-like_sf | Homologous_superfamily |
Pfam: PF04127
Enzyme classification (BRENDA):
- EC 6.3.2.51 — phosphopantothenate-cysteine ligase (ATP) (BRENDA: 9 organisms, 9 substrates, 8 inhibitors, 9 Km, 5 kcat entries)
Substrate kinetics (BRENDA)
4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| (R)-4’-PHOSPHOPANTOTHENATE | 0.013–0.057 | 3 |
| L-CYSTEINE | 0.014–0.086 | 3 |
| CTP | 0.156–0.265 | 2 |
| ATP | 0.269 | 1 |
Catalyzed reactions (Rhea), 2 shown:
- (R)-4’-phosphopantothenate + L-cysteine + CTP = N-[(R)-4-phosphopantothenoyl]-L-cysteine + CMP + diphosphate + H(+) (RHEA:19397)
- (R)-4’-phosphopantothenate + L-cysteine + ATP = N-[(R)-4-phosphopantothenoyl]-L-cysteine + AMP + diphosphate + H(+) (RHEA:25156)
UniProt features (38 total): helix 15, strand 14, sequence variant 3, turn 2, initiator methionine 1, chain 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7EDZ | X-RAY DIFFRACTION | 1.95 |
| 1P9O | X-RAY DIFFRACTION | 2.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HAB8-F1 | 93.94 | 0.85 |
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): 2
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-196783 | Coenzyme A biosynthesis |
MSigDB gene sets: 179 (showing top):
FXR_IR1_Q6, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_COENZYME_A_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ACETYL_COA_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_UP, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_AMIDE_BIOSYNTHETIC_PROCESS, USF_01, chr1p34
GO Biological Process (3): heart process (GO:0003015), acetyl-CoA biosynthetic process (GO:0006085), coenzyme A biosynthetic process (GO:0015937)
GO Molecular Function (7): phosphopantothenate–cysteine ligase activity (GO:0004632), ATP binding (GO:0005524), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), nucleotide binding (GO:0000166), catalytic activity (GO:0003824), ligase activity (GO:0016874)
GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Vitamin B5 (pantothenate) metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| circulatory system process | 1 |
| acetyl-CoA metabolic process | 1 |
| acyl-CoA biosynthetic process | 1 |
| coenzyme A metabolic process | 1 |
| sulfur compound biosynthetic process | 1 |
| purine-containing compound biosynthetic process | 1 |
| nucleoside phosphate biosynthetic process | 1 |
| acid-amino acid ligase activity | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| protein binding | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| molecular_function | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
862 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PPCS | PPCDC | Q96CD2 | 957 |
| PPCS | COASY | Q13057 | 932 |
| PPCS | PANK1 | Q8TE04 | 756 |
| PPCS | PANK2 | Q9BZ23 | 710 |
| PPCS | PANK3 | Q9H999 | 697 |
| PPCS | PANK4 | Q9NVE7 | 639 |
| PPCS | DCAKD | Q8WVC6 | 502 |
| PPCS | PPAN | Q9NQ55 | 478 |
| PPCS | GOLPH3 | Q9H4A6 | 399 |
| PPCS | DUX4L2 | P0CJ85 | 399 |
| PPCS | HACL2 | A1L0T0 | 384 |
| PPCS | RBM14 | Q96PK6 | 377 |
| PPCS | A0A0B4J1V8 | A0A0B4J1V8 | 355 |
| PPCS | NUDT8 | Q8WV74 | 344 |
| PPCS | SLC25A42 | Q86VD7 | 329 |
IntAct
21 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| C5orf46 | TMBIM6 | psi-mi:“MI:0914”(association) | 0.560 |
| PPCS | PPCS | psi-mi:“MI:0915”(physical association) | 0.560 |
| FBXO16 | CETN3 | psi-mi:“MI:0914”(association) | 0.530 |
| TRMT44 | PPCS | psi-mi:“MI:0915”(physical association) | 0.400 |
| PPCS | CLOCK | psi-mi:“MI:0915”(physical association) | 0.400 |
| BST1 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PPCS | SCGB2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| GXYLT2 | HSPA8 | psi-mi:“MI:0914”(association) | 0.350 |
| CCR1 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| SPRED2 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| MPI | ADA | psi-mi:“MI:0914”(association) | 0.350 |
| PNPLA4 | PCCA | psi-mi:“MI:0914”(association) | 0.350 |
| GAB2 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| MARS2 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| NPPB | ACOT7 | psi-mi:“MI:0914”(association) | 0.350 |
| VENTX | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC13A4 | POLR3A | psi-mi:“MI:0914”(association) | 0.350 |
| PPCS | PPCS | psi-mi:“MI:0915”(physical association) | 0.000 |
| PPCS | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (67): PPCS (Co-fractionation), PPCS (Co-fractionation), PPCS (Affinity Capture-MS), PPCS (Negative Genetic), PPCS (Positive Genetic), PPCS (Positive Genetic), PPCS (Positive Genetic), PPCS (Positive Genetic), PPCS (Positive Genetic), PPCS (Negative Genetic), PPCS (Positive Genetic), PPCS (Negative Genetic), PPCS (Positive Genetic), PPCS (Negative Genetic), PPCS (Positive Genetic)
ESM2 similar proteins: A0A7N9VSG0, A0JNU3, D3ZBP4, D3ZX08, F1MH07, O43542, O55137, O55171, O88202, O88267, P15575, P16444, P22412, P31429, P41226, P43477, Q08DH8, Q0P5I5, Q14CH7, Q2KHY1, Q2V057, Q32Q92, Q3SZM7, Q3UQ84, Q5E9L5, Q5JTZ9, Q5M876, Q5RCH4, Q66KF6, Q68FW7, Q6P3H4, Q6PAY6, Q86U10, Q8K4F6, Q8K4V2, Q8R123, Q8TDZ2, Q8VCZ9, Q8VDG5, Q8VDP3
Diamond homologs: P40506, Q0J7N5, Q69S81, Q8GXR5, Q8VDG5, Q9HAB8, Q9LZM3, Q9USK7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
40 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 14 |
| Likely benign | 21 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
357 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:42457241:TTGCA:T | acceptor_loss | 1.0000 |
| 1:42457242:TGCA:T | acceptor_loss | 1.0000 |
| 1:42457243:GCA:G | acceptor_loss | 1.0000 |
| 1:42457244:CAGGC:C | acceptor_loss | 1.0000 |
| 1:42457245:A:AG | acceptor_gain | 1.0000 |
| 1:42457245:A:C | acceptor_loss | 1.0000 |
| 1:42457246:G:GG | acceptor_gain | 1.0000 |
| 1:42457006:AG:A | donor_gain | 0.9900 |
| 1:42457069:GCTAG:G | donor_gain | 0.9900 |
| 1:42457070:C:G | donor_gain | 0.9900 |
| 1:42457070:CTAGG:C | donor_loss | 0.9900 |
| 1:42457071:TAGGT:T | donor_loss | 0.9900 |
| 1:42457072:AGGTG:A | donor_loss | 0.9900 |
| 1:42457073:GGTG:G | donor_loss | 0.9900 |
| 1:42457074:G:T | donor_loss | 0.9900 |
| 1:42457075:T:A | donor_loss | 0.9900 |
| 1:42457245:AG:A | acceptor_gain | 0.9900 |
| 1:42457246:GG:G | acceptor_gain | 0.9900 |
| 1:42457246:GGC:G | acceptor_gain | 0.9900 |
| 1:42457246:GGCC:G | acceptor_gain | 0.9900 |
| 1:42457246:GGCCC:G | acceptor_gain | 0.9900 |
| 1:42457105:G:GT | donor_gain | 0.9800 |
| 1:42456974:G:GT | donor_gain | 0.9700 |
| 1:42457346:TGCAG:T | donor_loss | 0.9700 |
| 1:42457347:GCAGG:G | donor_loss | 0.9700 |
| 1:42457348:CAGGT:C | donor_loss | 0.9700 |
| 1:42457349:AGG:A | donor_loss | 0.9700 |
| 1:42457350:GGT:G | donor_loss | 0.9700 |
| 1:42457351:GTG:G | donor_loss | 0.9700 |
| 1:42457352:T:A | donor_loss | 0.9700 |
AlphaMissense
1986 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:42457010:T:C | F149L | 0.997 |
| 1:42457012:C:A | F149L | 0.997 |
| 1:42457012:C:G | F149L | 0.997 |
| 1:42456742:C:A | N59K | 0.996 |
| 1:42456742:C:G | N59K | 0.996 |
| 1:42459678:T:C | F230L | 0.994 |
| 1:42459680:T:A | F230L | 0.994 |
| 1:42459680:T:G | F230L | 0.994 |
| 1:42456746:A:C | S61R | 0.993 |
| 1:42456748:C:A | S61R | 0.993 |
| 1:42456748:C:G | S61R | 0.993 |
| 1:42457286:A:T | D183V | 0.993 |
| 1:42457288:T:C | F184L | 0.993 |
| 1:42457290:C:A | F184L | 0.993 |
| 1:42457290:C:G | F184L | 0.993 |
| 1:42457286:A:G | D183G | 0.992 |
| 1:42456747:G:A | S61N | 0.991 |
| 1:42457323:G:C | K195N | 0.991 |
| 1:42457323:G:T | K195N | 0.991 |
| 1:42459683:G:C | K231N | 0.991 |
| 1:42459683:G:T | K231N | 0.991 |
| 1:42457286:A:C | D183A | 0.990 |
| 1:42457287:T:A | D183E | 0.990 |
| 1:42457287:T:G | D183E | 0.990 |
| 1:42456731:T:C | F56L | 0.988 |
| 1:42456733:C:A | F56L | 0.988 |
| 1:42456733:C:G | F56L | 0.988 |
| 1:42459718:C:A | A243D | 0.988 |
| 1:42456693:G:A | G43D | 0.987 |
| 1:42457285:G:C | D183H | 0.987 |
dbSNP variants (sampled 300 via entrez): RS1000014577 (1:42460994 G>A,T), RS1000283476 (1:42468105 A>C), RS1000397799 (1:42467837 T>C), RS1000445416 (1:42465585 G>A), RS1000546667 (1:42456445 T>C,G), RS1000602498 (1:42463253 G>A), RS1000785852 (1:42461527 G>A), RS1001073181 (1:42469630 G>A), RS1001687464 (1:42468179 G>A), RS1001727637 (1:42462326 A>T), RS1001781918 (1:42462640 G>C), RS1001849529 (1:42471635 C>G,T), RS1001959498 (1:42465292 C>T), RS1001993916 (1:42457501 C>T), RS1002066290 (1:42463426 G>A)
Disease associations
OMIM: gene MIM:609853 | disease phenotypes: MIM:618189
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| cardiomyopathy, dilated, 2c | Strong | Autosomal recessive |
| familial isolated dilated cardiomyopathy | Supportive | Autosomal dominant |
Mondo (2): cardiomyopathy, dilated, 2c (MONDO:0032592), (MONDO:0015470)
Orphanet (0):
HPO phenotypes
23 total (23 of 23 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000969 | Edema |
| HP:0001252 | Hypotonia |
| HP:0001522 | Death in infancy |
| HP:0001635 | Congestive heart failure |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0001727 | Thromboembolic stroke |
| HP:0002092 | Pulmonary arterial hypertension |
| HP:0002151 | Increased circulating lactate concentration |
| HP:0002875 | Exertional dyspnea |
| HP:0003198 | Myopathy |
| HP:0003457 | EMG abnormality |
| HP:0003593 | Infantile onset |
| HP:0003623 | Neonatal onset |
| HP:0003819 | Death in childhood |
| HP:0011463 | Childhood onset |
| HP:0011675 | Arrhythmia |
| HP:0012378 | Fatigue |
| HP:0012664 | Reduced left ventricular ejection fraction |
| HP:0012764 | Orthopnea |
| HP:0025169 | Left ventricular systolic dysfunction |
| HP:0100578 | Lipoatrophy |
GWAS associations
0 associations (top):
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 |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, decreases methylation | 3 |
| Benzo(a)pyrene | affects methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | affects methylation | 1 |
| cobaltous chloride | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Cadmium | increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| T-2 Toxin | increases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Urethane | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Vitamin K 3 | affects expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Cellosaurus cell lines
2 cell lines: 2 induced pluripotent stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A0TH | MRIi028-A | Induced pluripotent stem cell | Male |
| CVCL_C0HS | HMGUi003-A | Induced pluripotent stem cell | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: cardiomyopathy, dilated, 2c, familial isolated dilated cardiomyopathy
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cardiomyopathy, dilated, 2c