SPX
geneOn this page
Also known as MGC10946NPQspexinSPX1
Summary
SPX (spexin hormone, HGNC:28139) is a protein-coding gene on chromosome 12p12.1, encoding Spexin (Q9BT56). Plays a role as a central modulator of cardiovascular and renal function and nociception.
The protein encoded by this gene is a hormone involved in modulation of cardiovascular and renal function. It has also been shown in rats to cause weight loss. Several transcript variants have been found for this gene.
Source: NCBI Gene 80763 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 25 total
- MANE Select transcript:
NM_030572
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28139 |
| Approved symbol | SPX |
| Name | spexin hormone |
| Location | 12p12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC10946, NPQ, spexin, SPX1 |
| Ensembl gene | ENSG00000134548 |
| Ensembl biotype | protein_coding |
| OMIM | 619246 |
| Entrez | 80763 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 5 protein_coding_CDS_not_defined, 2 protein_coding, 1 nonsense_mediated_decay
ENST00000256969, ENST00000535033, ENST00000535139, ENST00000537527, ENST00000543800, ENST00000544637, ENST00000546199, ENST00000649016
RefSeq mRNA: 1 — MANE Select: NM_030572
NM_030572
CCDS: CCDS31757
Canonical transcript exons
ENST00000256969 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000915557 | 21526886 | 21526966 |
| ENSE00000915558 | 21527135 | 21527192 |
| ENSE00001231000 | 21526296 | 21526478 |
| ENSE00003523532 | 21531137 | 21532947 |
| ENSE00003631342 | 21527727 | 21527789 |
| ENSE00003648295 | 21529001 | 21529084 |
Expression profiles
Bgee: expression breadth ubiquitous, 208 present calls, max score 94.11.
FANTOM5 (CAGE): breadth broad, TPM avg 4.2986 / max 258.1616, expressed in 590 samples.
FANTOM5 promoters (16 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 124681 | 0.7334 | 181 |
| 124671 | 0.7317 | 148 |
| 124680 | 0.6193 | 149 |
| 124686 | 0.4960 | 143 |
| 124673 | 0.3662 | 34 |
| 124670 | 0.2549 | 106 |
| 124682 | 0.2533 | 92 |
| 124678 | 0.2202 | 77 |
| 124679 | 0.1741 | 75 |
| 124685 | 0.1149 | 65 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| body of pancreas | UBERON:0001150 | 94.11 | gold quality |
| medial globus pallidus | UBERON:0002477 | 93.58 | gold quality |
| globus pallidus | UBERON:0001875 | 92.82 | gold quality |
| amygdala | UBERON:0001876 | 91.95 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 91.82 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 90.77 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 90.59 | gold quality |
| caudate nucleus | UBERON:0001873 | 90.24 | gold quality |
| substantia nigra | UBERON:0002038 | 90.17 | gold quality |
| spinal cord | UBERON:0002240 | 89.96 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 89.82 | gold quality |
| midbrain | UBERON:0001891 | 89.72 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.68 | gold quality |
| putamen | UBERON:0001874 | 89.52 | gold quality |
| hypothalamus | UBERON:0001898 | 88.96 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 88.91 | gold quality |
| nucleus accumbens | UBERON:0001882 | 88.32 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 88.31 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 87.60 | gold quality |
| cingulate cortex | UBERON:0003027 | 87.51 | gold quality |
| Ammon’s horn | UBERON:0001954 | 87.50 | gold quality |
| monocyte | CL:0000576 | 87.00 | gold quality |
| ventral tegmental area | UBERON:0002691 | 86.88 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 86.71 | gold quality |
| mononuclear cell | CL:0000842 | 86.66 | gold quality |
| corpus callosum | UBERON:0002336 | 86.33 | gold quality |
| right frontal lobe | UBERON:0002810 | 86.29 | gold quality |
| temporal lobe | UBERON:0001871 | 86.19 | gold quality |
| metanephros cortex | UBERON:0010533 | 85.72 | gold quality |
| leukocyte | CL:0000738 | 85.15 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.63 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
81 targeting SPX, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-4799-5P | 99.82 | 70.60 | 2663 |
| HSA-MIR-323A-3P | 99.79 | 70.30 | 1739 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
Literature-anchored findings (GeneRIF, showing 23)
- Taken together, although C12ORF39 is not a secreted small peptide, it can also be secreted to play a role in the biological functions of the placenta. (PMID:19193193)
- newly identified peptides derived from the NPQ/spexin precursor contribute to CNS-mediated control of arterial blood pressure and salt and water balance and modulate nociceptive responses (PMID:22038051)
- Data from ligand-receptor interaction studies suggest that human spexin-1 and zebrafish spexin-2 activate galanin receptors GALR2/GALR3 (but not GALR1); thus spexins appear to be natural ligands for human/Xenopus/zebrafish GALR2/GALR3. (PMID:24517231)
- Circulating spexin levels are low in T2DM patients and negatively related to blood glucose and lipids suggesting that the peptide may play a role in glucose and lipid metabolism in T2DM. (PMID:26211893)
- The results suggest that C12orf39, CSTA, and CALCB are novel ATF4 target genes, and that C12orf39 promoter activity is activated by ATF4 through amino acid response element. (PMID:26967115)
- Lower circulating levels of Spexin in obese children compared with their normal-weight counterparts and the ability to discriminate obese and normal-weight groups based on Spexin concentration enabled us to suggest a potential role for this novel peptide in childhood obesity. (PMID:27218269)
- Data suggest that, in response to oral glucose (as in oral glucose tolerance test), adolescent serum spexin levels are not significantly correlated with body composition, fitness, or blood biochemical measurements; these studies were conducted in adolescents with either healthy normal weight, obesity, type 2 diabetes, or obesity plus type 2 diabetes. (PMID:28626942)
- Serum levels of both spexin and kisspetin show negative correlation with obesity and insulin resistance in women. (PMID:29137471)
- SPX levels are positively influenced by glucose intolerance in pregnant women with Gestational Diabetes Mellitus (GDM), while they decrease in control women without GDM. (PMID:30031679)
- Lower circulating levels of SPX in adults are modestly associated with components of metabolic syndrome and are sex-specific. (PMID:30254709)
- SPX is a novel regulator of lipid metabolism in murine 3T3-L1 and human adipocytes. (PMID:30305242)
- serum SPX levels significantly decreased in obese children and negatively correlated with insulin resistance and pancreatic beta cell function indicators (PMID:30673665)
- Spexin levels were significantly higher in women with gestational diabetes and closely related to HOMA-IR in the third trimester pregnancy. (PMID:31109216)
- Maternal and umbilical cord blood subfatin and spexin levels in patients with gestational diabetes mellitus. (PMID:32068104)
- Different spexin level in obese vs normal weight children and its relationship with obesity related risk factors. (PMID:32139252)
- Spexin-expressing neurons in the magnocellular nuclei of the human hypothalamus. (PMID:33161073)
- The effect of umbilical cord blood spexin, free 25(OH) vitamin D3 and adipocytokine levels on intrauterine growth and anthropometric measurements in newborns. (PMID:34010726)
- The Association of Serum Circulating Neuropeptide Q and Chemerin Levels with Cardiometabolic Risk Factors among Patients with Metabolic Syndrome. (PMID:34944507)
- Serum spexin levels are not associated with size at birth but are associated with metabolic syndrome components in prepubertal children born at term. (PMID:35334196)
- The role of spexin in energy metabolism. (PMID:36914115)
- Spexin role in human granulosa cells physiology and PCOS: expression and negative impact on steroidogenesis and proliferationdagger. (PMID:37658762)
- Normalization of Spexin Levels in Patients with Obesity Submitted to Bariatric Surgery. (PMID:38072893)
- Serum Spexin Level Is Negatively Associated With Peripheral Neuropathy and Sensory Pain in Type 2 Diabetes. (PMID:38919263)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | spx | ENSDARG00000056859 |
| mus_musculus | Spx | ENSMUSG00000071112 |
| rattus_norvegicus | Spx | ENSRNOG00000053700 |
Protein
Protein identifiers
Spexin — Q9BT56 (reviewed: Q9BT56)
Alternative names: NPQ, Neuropeptide Q, Spexin hormone
All UniProt accessions (3): A0A3B3ISF3, Q9BT56, F5GXE5
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role as a central modulator of cardiovascular and renal function and nociception. Also plays a role in energy metabolism and storage. Inhibits adrenocortical cell proliferation with minor stimulation on corticosteroid release. Acts as a ligand for galanin receptors GALR2 and GALR3. Intracerebroventricular administration of the peptide induces an increase in arterial blood pressure, a decrease in both heart rate and renal excretion and delayed natriuresis. Intraventricular administration of the peptide induces antinociceptive activity. Also induces contraction of muscarinic-like stomach smooth muscles. Intraperitoneal administration of the peptide induces a reduction in food consumption and body weight. Inhibits long chain fatty acid uptake into adipocytes. Intracerebroventricular administration of the peptide induces a decrease in heart rate, but no change in arterial pressure, and an increase in urine flow rate. Intraventricular administration of the peptide induces antinociceptive activity.
Subcellular location. Secreted. Extracellular space. Cytoplasmic vesicle. Secretory vesicle.
Tissue specificity. Expressed in the type I glomic cells within the carotid body (at protein level). Expressed predominantly in pancreas, testis, kidney, brain and placenta. Expressed in submucosal layer of esophagus and stomach fundus.
Induction. Down-regulated in omental and subcutaneous fat of obese subjects.
Similarity. Belongs to the spexin family.
RefSeq proteins (1): NP_085049* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR028126 | Spexin | Family |
Pfam: PF15171
UniProt features (14 total): site 3, propeptide 3, peptide 2, signal peptide 1, chain 1, modified residue 1, helix 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7XJL | ELECTRON MICROSCOPY | 3.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BT56-F1 | 65.26 | 0.07 |
Antibody-complex structures (SAbDab): 1 — 7XJL
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (3): 52–53 (cleavage; by prohormone convertase 2); 72–73 (cleavage; by prohormone convertase 2); 35–36 (cleavage; by prohormone convertase 2)
Post-translational modifications (1): 49
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 136 (showing top):
GOBP_EXCRETION, GOBP_REGULATION_OF_BLOOD_PRESSURE, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOCC_SECRETORY_GRANULE, GOBP_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE, GOBP_REGULATION_OF_SMOOTH_MUSCLE_CONTRACTION, GOBP_RESPONSE_TO_FOOD, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_MUSCLE_CONTRACTION, GOBP_SENSORY_PERCEPTION_OF_PAIN, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_NEGATIVE_REGULATION_OF_TRANSPORT, GOBP_REGULATION_OF_MUSCLE_CONTRACTION, GOBP_NEGATIVE_REGULATION_OF_BLOOD_CIRCULATION, GOBP_MUSCLE_CONTRACTION
GO Biological Process (8): positive regulation of systemic arterial blood pressure (GO:0003084), negative regulation of heart rate (GO:0010459), negative regulation of appetite (GO:0032099), negative regulation of renal sodium excretion (GO:0035814), long-chain fatty acid import into cell (GO:0044539), regulation of sensory perception of pain (GO:0051930), positive regulation of gastro-intestinal system smooth muscle contraction (GO:1904306), signal transduction (GO:0007165)
GO Molecular Function (3): neuropeptide hormone activity (GO:0005184), hormone activity (GO:0005179), protein binding (GO:0005515)
GO Cellular Component (6): obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737), transport vesicle (GO:0030133), dense core granule (GO:0031045), extracellular region (GO:0005576), cytoplasmic vesicle (GO:0031410)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| regulation of systemic arterial blood pressure | 1 |
| positive regulation of blood pressure | 1 |
| regulation of heart rate | 1 |
| negative regulation of heart contraction | 1 |
| negative regulation of response to food | 1 |
| regulation of appetite | 1 |
| renal sodium excretion | 1 |
| regulation of renal sodium excretion | 1 |
| negative regulation of secretion | 1 |
| negative regulation of multicellular organismal process | 1 |
| long-chain fatty acid transport | 1 |
| import into cell | 1 |
| lipid import into cell | 1 |
| sensory perception of pain | 1 |
| regulation of sensory perception | 1 |
| gastro-intestinal system smooth muscle contraction | 1 |
| positive regulation of smooth muscle contraction | 1 |
| regulation of gastro-intestinal system smooth muscle contraction | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| hormone activity | 1 |
| neuropeptide activity | 1 |
| receptor ligand activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| secretory granule | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
490 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SPX | GALR2 | O43603 | 926 |
| SPX | GALR3 | O60755 | 879 |
| SPX | CLPX | O76031 | 774 |
| SPX | GAL | P22466 | 750 |
| SPX | CLPP | Q16740 | 723 |
| SPX | LGALS2 | P05162 | 698 |
| SPX | GALR1 | P47211 | 637 |
| SPX | NPY | P01303 | 608 |
| SPX | QRFP | P83859 | 583 |
| SPX | KISS1 | Q15726 | 574 |
| SPX | GALP | Q9UBC7 | 574 |
| SPX | ECRG4 | Q9H1Z8 | 572 |
| SPX | LGALS3 | P17931 | 569 |
| SPX | INS | P01308 | 498 |
| SPX | PRLH | P81277 | 497 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MRM1 | SPX | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPX | ERI3 | psi-mi:“MI:0914”(association) | 0.350 |
| SPX | MRM1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (32): MRM1 (Two-hybrid), CERCAM (Affinity Capture-MS), ATG7 (Affinity Capture-MS), NCOA1 (Affinity Capture-MS), ERI3 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), CLN5 (Affinity Capture-MS), LRFN1 (Affinity Capture-MS), PCYOX1L (Affinity Capture-MS), CES3 (Affinity Capture-MS), IBA57 (Affinity Capture-MS), ADAM9 (Affinity Capture-MS), NELFA (Affinity Capture-MS), CAMKMT (Affinity Capture-MS), PPP2R5E (Affinity Capture-MS)
ESM2 similar proteins: A0A1L2F565, B3IWF7, B3IWF9, D3Z752, E2E4E4, F1QQI2, I7C2V3, M0R8L2, O46540, O62647, O73812, O93448, P01146, P01257, P01258, P07501, P0DQY8, P10093, P12272, P12969, P15743, P22858, P27104, P47851, P51918, P52211, P58073, P63152, P63292, P70160, P81564, P81872, Q0VBW8, Q0VC44, Q13519, Q5H8A3, Q60549, Q64387, Q75V94, Q75V95
Diamond homologs: A0A077DF94, D3Z752, F1QQI2, I7C2V3, M0R8L2, Q0VC44, Q9BT56
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SPX | “up-regulates activity” | GALR2 | binding |
| SPX | “up-regulates activity” | GALR3 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
25 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 17 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1055 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:21526476:AAGG:A | donor_loss | 1.0000 |
| 12:21526478:GGT:G | donor_loss | 1.0000 |
| 12:21527125:C:CA | acceptor_gain | 1.0000 |
| 12:21527126:G:A | acceptor_gain | 1.0000 |
| 12:21527785:GCCGG:G | donor_gain | 1.0000 |
| 12:21527788:GG:G | donor_gain | 1.0000 |
| 12:21527789:GG:G | donor_gain | 1.0000 |
| 12:21527790:G:GG | donor_gain | 1.0000 |
| 12:21527790:GT:G | donor_loss | 1.0000 |
| 12:21527791:T:A | donor_loss | 1.0000 |
| 12:21528999:A:AG | acceptor_gain | 1.0000 |
| 12:21529000:G:GG | acceptor_gain | 1.0000 |
| 12:21529000:GA:G | acceptor_gain | 1.0000 |
| 12:21529000:GAA:G | acceptor_gain | 1.0000 |
| 12:21529000:GAAA:G | acceptor_gain | 1.0000 |
| 12:21529080:AGAAG:A | donor_loss | 1.0000 |
| 12:21529081:GAAG:G | donor_gain | 1.0000 |
| 12:21529081:GAAGG:G | donor_loss | 1.0000 |
| 12:21529082:AAG:A | donor_loss | 1.0000 |
| 12:21529083:AG:A | donor_loss | 1.0000 |
| 12:21529084:GGTAC:G | donor_loss | 1.0000 |
| 12:21529086:T:G | donor_loss | 1.0000 |
| 12:21531135:A:AG | acceptor_gain | 1.0000 |
| 12:21531136:G:GG | acceptor_gain | 1.0000 |
| 12:21539334:TAATA:T | acceptor_gain | 1.0000 |
| 12:21539335:AATA:A | acceptor_gain | 1.0000 |
| 12:21539336:ATA:A | acceptor_gain | 1.0000 |
| 12:21539337:TA:T | acceptor_gain | 1.0000 |
| 12:21539339:C:CC | acceptor_gain | 1.0000 |
| 12:21539340:T:G | acceptor_loss | 1.0000 |
AlphaMissense
743 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:21527184:A:T | K46I | 0.980 |
| 12:21527185:A:C | K46N | 0.974 |
| 12:21527185:A:T | K46N | 0.974 |
| 12:21527158:G:C | W37C | 0.968 |
| 12:21527158:G:T | W37C | 0.968 |
| 12:21527156:T:A | W37R | 0.963 |
| 12:21527156:T:C | W37R | 0.963 |
| 12:21527181:T:C | L45P | 0.949 |
| 12:21527168:G:C | A41P | 0.940 |
| 12:21527186:G:A | G47R | 0.938 |
| 12:21527186:G:C | G47R | 0.938 |
| 12:21527186:G:T | G47W | 0.928 |
| 12:21527184:A:C | K46T | 0.925 |
| 12:21527177:T:G | Y44D | 0.923 |
| 12:21527738:T:C | F53L | 0.923 |
| 12:21527740:C:A | F53L | 0.923 |
| 12:21527740:C:G | F53L | 0.923 |
| 12:21527175:T:A | L43H | 0.911 |
| 12:21527175:T:C | L43P | 0.910 |
| 12:21527152:G:C | R35S | 0.906 |
| 12:21527152:G:T | R35S | 0.906 |
| 12:21527729:G:C | G50R | 0.901 |
| 12:21527167:A:C | Q40H | 0.892 |
| 12:21527167:A:T | Q40H | 0.892 |
| 12:21527178:A:G | Y44C | 0.884 |
| 12:21527178:A:C | Y44S | 0.877 |
| 12:21527177:T:A | Y44N | 0.876 |
| 12:21527183:A:G | K46E | 0.876 |
| 12:21527155:C:A | N36K | 0.868 |
| 12:21527155:C:G | N36K | 0.868 |
dbSNP variants (sampled 300 via entrez): RS1000981497 (12:21533064 G>T), RS1001067841 (12:21529725 G>A), RS1001351967 (12:21529994 C>G,T), RS1001575007 (12:21526326 C>G,T), RS1001582206 (12:21533408 T>A), RS1001910432 (12:21528449 T>C), RS1002632587 (12:21532622 T>G), RS1003018814 (12:21525379 T>C), RS1003199091 (12:21529543 G>A), RS1003794381 (12:21527978 C>A,T), RS1003856137 (12:21528147 G>C), RS1003989750 (12:21527427 C>G,T), RS1004462464 (12:21531000 T>A,C), RS1004863417 (12:21529706 C>G), RS1004893203 (12:21529307 C>A,T)
Disease associations
OMIM: gene MIM:619246 | disease phenotypes: MIM:608569
GenCC curated gene-disease
Mondo (1): dilated cardiomyopathy 1O (MONDO:0012062)
Orphanet (1): Familial isolated dilated cardiomyopathy (Orphanet:154)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90002395_117 | Mean platelet volume | 3.000000e-11 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C563906 | Cardiomyopathy, Dilated, 1o (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases expression | 7 |
| Cyclosporine | increases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| perfluorooctanoic acid | increases expression | 2 |
| perfluoro-n-nonanoic acid | increases expression | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Copper | affects cotreatment, decreases expression, affects binding, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Silicon Dioxide | decreases expression, increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases expression, increases abundance | 1 |
| decabromobiphenyl ether | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| potassium chromate(VI) | increases expression | 1 |
| methacrylaldehyde | increases expression, increases abundance, affects cotreatment | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| entinostat | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| belinostat | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): dilated cardiomyopathy 1O