TNNI1
geneOn this page
Also known as ssTnI
Summary
TNNI1 (troponin I1, slow skeletal type, HGNC:11945) is a protein-coding gene on chromosome 1q32.1, encoding Troponin I, slow skeletal muscle (P19237). Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
Troponin proteins associate with tropomyosin and regulate the calcium sensitivity of the myofibril contractile apparatus of striated muscles. Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. The TnI-fast and TnI-slow genes are expressed in fast-twitch and slow-twitch skeletal muscle fibers, respectively, while the TnI-cardiac gene is expressed exclusively in cardiac muscle tissue. This gene encodes the Troponin-I-skeletal-slow-twitch protein. This gene is expressed in cardiac and skeletal muscle during early development but is restricted to slow-twitch skeletal muscle fibers in adults. The encoded protein prevents muscle contraction by inhibiting calcium-mediated conformational changes in actin-myosin complexes.
Source: NCBI Gene 7135 — RefSeq curated summary.
At a glance
- Gene–disease (curated): arthrogryposis (Moderate, GenCC) — +2 more curated relationships
- Clinical variants (ClinVar): 32 total
- MANE Select transcript:
NM_003281
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11945 |
| Approved symbol | TNNI1 |
| Name | troponin I1, slow skeletal type |
| Location | 1q32.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ssTnI |
| Ensembl gene | ENSG00000159173 |
| Ensembl biotype | protein_coding |
| OMIM | 191042 |
| Entrez | 7135 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 6 protein_coding
ENST00000336092, ENST00000361379, ENST00000367312, ENST00000555340, ENST00000555948, ENST00000556362
RefSeq mRNA: 1 — MANE Select: NM_003281
NM_003281
CCDS: CCDS1411
Canonical transcript exons
ENST00000361379 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001074229 | 201410326 | 201410435 |
| ENSE00001074235 | 201413032 | 201413121 |
| ENSE00001350131 | 201417783 | 201417812 |
| ENSE00001957519 | 201403784 | 201409250 |
| ENSE00003526310 | 201415213 | 201415254 |
| ENSE00003535850 | 201417116 | 201417119 |
| ENSE00003561878 | 201414518 | 201414649 |
| ENSE00003787328 | 201411357 | 201411533 |
| ENSE00003843411 | 201421673 | 201421730 |
Expression profiles
Bgee: expression breadth ubiquitous, 183 present calls, max score 99.93.
FANTOM5 (CAGE): breadth broad, TPM avg 15.7471 / max 3108.0544, expressed in 247 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 16648 | 15.4919 | 246 |
| 16650 | 0.1741 | 47 |
| 16651 | 0.0382 | 22 |
| 16649 | 0.0279 | 16 |
| 16652 | 0.0150 | 7 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.93 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 99.91 | gold quality |
| diaphragm | UBERON:0001103 | 99.89 | gold quality |
| triceps brachii | UBERON:0001509 | 99.89 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 99.89 | gold quality |
| gluteal muscle | UBERON:0002000 | 99.88 | gold quality |
| biceps brachii | UBERON:0001507 | 99.84 | gold quality |
| vastus lateralis | UBERON:0001379 | 99.77 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 99.71 | gold quality |
| quadriceps femoris | UBERON:0001377 | 99.61 | gold quality |
| gastrocnemius | UBERON:0001388 | 99.54 | gold quality |
| body of tongue | UBERON:0011876 | 99.27 | gold quality |
| deltoid | UBERON:0001476 | 98.96 | gold quality |
| tibialis anterior | UBERON:0001385 | 98.74 | gold quality |
| muscle organ | UBERON:0001630 | 98.24 | gold quality |
| muscle of leg | UBERON:0001383 | 97.66 | gold quality |
| muscle tissue | UBERON:0002385 | 94.55 | gold quality |
| right atrium auricular region | UBERON:0006631 | 93.08 | gold quality |
| tongue | UBERON:0001723 | 92.04 | gold quality |
| cardiac atrium | UBERON:0002081 | 92.04 | gold quality |
| superior surface of tongue | UBERON:0007371 | 86.72 | gold quality |
| apex of heart | UBERON:0002098 | 86.00 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 83.69 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 83.47 | gold quality |
| heart | UBERON:0000948 | 82.52 | gold quality |
| heart left ventricle | UBERON:0002084 | 81.11 | gold quality |
| cardiac ventricle | UBERON:0002082 | 80.82 | gold quality |
| myocardium | UBERON:0002349 | 77.46 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 77.27 | gold quality |
| heart right ventricle | UBERON:0002080 | 76.91 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-56 | yes | 3139.36 |
| E-GEOD-114530 | yes | 1834.54 |
| E-HCAD-10 | yes | 18.94 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NVL
miRNA regulators (miRDB)
203 targeting TNNI1, 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-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4715-3P | 99.98 | 66.03 | 670 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
Literature-anchored findings (GeneRIF, showing 21)
- troponin I phosphorylation has a role in protein kinase C-mediated enhanced contractile performance of myocytes (PMID:12815045)
- MEF2 activation of the troponin I slow enhancer is repressed by hMusTRD1alpha1 (PMID:12857748)
- Low expression of ssTnI was found in 60% of patients in sinus rhythm or paroxysmal AF and in 8% of patients with chronic AF. Relative ssTnI mRNA expression was significantly lower in patients with AF than in those in sinus rhythm. (PMID:15289369)
- These results suggest that this R21C mutation in TnI affects the Ca(2+)-sensitizing effect of Tn, the ability of TnI to be readily phosphorylated by PKA and the stability of TnI to calpain. (PMID:16005017)
- A revised method of troponin exchange in pemeabilized cardiac trabeculae using vanadate: functional consequences of a HCM-causing mutation in troponin I. (PMID:17051347)
- a localized N-terminal region of TnI comprised of amino acids 33-80, which interacts with C-terminal regions of cTnC and cTnT, is of particular significance in transducing signaling of thin filament activation by strong cross-bridges (PMID:17099250)
- Elevated post-operative troponin 1 levels predict long-term mortality in older patients undergoing emergency orthpedic surgery. (PMID:19811558)
- Evaluated the prevalence of TNN13 gene mutations in sudden death caused by cardiomyopathy (CM); in dilated CM cases, a new missense mutation Pro16Thr was detected. A single nucleotide polymorphism at -8 position of intron 3 was identified. (PMID:20817590)
- sTnI as a sensitive marker of skeletal muscle injury. (PMID:22323298)
- Elevations of troponin I and N-terminal pro-B-type natriuretic peptide (NT-proBNP) are common in patients with atrial fibrillation and independently related to increased risks of stroke and mortality. (PMID:22374183)
- Data suggest that mutation A162H in switch region of troponin I induces transitory curved conformation and promotes contraction of troponin I bound to regulatory domain of troponin C; this is countered by residue E164 to ensure proper relaxation. (PMID:25996354)
- CT-1 was found to be associated with Tn-I, which is used to detect myocardial damage after OPCAB surgery. CT-1 may also be used to detect myocardial damage. (PMID:26334851)
- GDF-15, sST2, and hs-TnI are associated with incident cardiovascular disease and heart failure (PMID:26972631)
- Measuring mean platelet volume in conjunction with troponin I levels improves the diagnostic value of troponin I in acute coronary syndrome. (PMID:27524214)
- Ultrasensitive troponin I was detectable in almost all individuals of a study sample reflecting middle-aged to elderly European general population. Ultrasensitive troponin concentrations exhibit an independent, graded, positive relation with incident CHD [coronary heart disease]. (PMID:28585121)
- Studied use of serum levels of Troponin I as a predictive biomarker for diagnosis of left ventricular systolic dysfunction after anthracycline treatment in breast cancer. (PMID:28718245)
- Troponin I levels at intensive care unit admission are a strong independent predictor of dialysis needs in sepsis. (PMID:30453890)
- Cardiac Troponin I Is an Independent Predictor for Mortality in Hospitalized Patients With COVID-19. (PMID:32539541)
- Postoperative troponin increases after noncardiac surgery are associated with raised neurofilament light: a prospective observational cohort study. (PMID:33158499)
- Elevation of fast but not slow troponin I in the circulation of patients with Becker and Duchenne muscular dystrophy. (PMID:33683712)
- Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease. (PMID:38569017)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tnni1a | ENSDARG00000000474 |
| danio_rerio | tnni1b | ENSDARG00000052708 |
| mus_musculus | Tnni1 | ENSMUSG00000026418 |
| rattus_norvegicus | Tnni1 | ENSRNOG00000009073 |
| drosophila_melanogaster | wupA | FBGN0283471 |
| caenorhabditis_elegans | WBGENE00006584 | |
| caenorhabditis_elegans | WBGENE00006585 | |
| caenorhabditis_elegans | WBGENE00006586 | |
| caenorhabditis_elegans | WBGENE00006764 |
Paralogs (2): TNNI3 (ENSG00000129991), TNNI2 (ENSG00000130598)
Protein
Protein identifiers
Troponin I, slow skeletal muscle — P19237 (reviewed: P19237)
Alternative names: Troponin I, slow-twitch isoform
All UniProt accessions (4): P19237, G3V3L5, G3V489, G3V4F8
UniProt curated annotations — full annotation on UniProt →
Function. Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
Subunit / interactions. Binds to actin and tropomyosin.
Tissue specificity. Highest levels observed in human skeletal muscle (e.g. gastrocnemious muscle), differentiated cultures of primary human muscle cells and rhabdomyosarcoma cells cultured in low serum medium. Expressed in C2 muscle cell myoblasts and myotubes.
Similarity. Belongs to the troponin I family.
RefSeq proteins (1): NP_003272* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001978 | Troponin | Family |
| IPR038077 | Troponin_sf | Homologous_superfamily |
| IPR050875 | Troponin_I | Family |
Pfam: PF00992
UniProt features (13 total): sequence conflict 6, region of interest 2, modified residue 2, initiator methionine 1, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P19237-F1 | 78.44 | 0.47 |
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 (2): 2, 58
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-390522 | Striated Muscle Contraction |
MSigDB gene sets: 180 (showing top):
GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GGGACCA_MIR133A_MIR133B, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_CARDIAC_CHAMBER_MORPHOGENESIS, GOBP_SKELETAL_MUSCLE_ADAPTATION, GCANCTGNY_MYOD_Q6, AREB6_03, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, TGACCTY_ERR1_Q2, GOBP_MULTICELLULAR_ORGANISMAL_MOVEMENT, MEF2_02, GOBP_SKELETAL_MUSCLE_CONTRACTION, COUP_01
GO Biological Process (5): skeletal muscle contraction (GO:0003009), regulation of striated muscle contraction (GO:0006942), transition between fast and slow fiber (GO:0014883), ventricular cardiac muscle tissue morphogenesis (GO:0055010), cardiac muscle contraction (GO:0060048)
GO Molecular Function (2): actin binding (GO:0003779), protein binding (GO:0005515)
GO Cellular Component (2): cytosol (GO:0005829), troponin complex (GO:0005861)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Muscle contraction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| striated muscle contraction | 3 |
| musculoskeletal movement | 1 |
| regulation of muscle contraction | 1 |
| regulation of skeletal muscle adaptation | 1 |
| cardiac ventricle morphogenesis | 1 |
| ventricular cardiac muscle tissue development | 1 |
| cardiac muscle tissue morphogenesis | 1 |
| heart contraction | 1 |
| cytoskeletal protein binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
| striated muscle thin filament | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1170 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TNNI1 | TNNT1 | P13805 | 967 |
| TNNI1 | TNNT3 | P45378 | 935 |
| TNNI1 | TNNT2 | P45379 | 909 |
| TNNI1 | TNNC1 | P02590 | 868 |
| TNNI1 | MYH7 | P12883 | 817 |
| TNNI1 | TPM3 | P06753 | 749 |
| TNNI1 | MYL3 | P08590 | 717 |
| TNNI1 | MYL7 | Q01449 | 707 |
| TNNI1 | TNNC2 | P02585 | 697 |
| TNNI1 | MYL2 | P10916 | 682 |
| TNNI1 | MYH7B | A7E2Y1 | 655 |
| TNNI1 | MYBPC3 | Q14896 | 653 |
| TNNI1 | MYH6 | P13533 | 651 |
| TNNI1 | ACTN3 | Q08043 | 631 |
| TNNI1 | MYL11 | Q96A32 | 629 |
IntAct
138 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PNMA1 | TNNI1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TNNI1 | PNMA1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TNNI1 | TNNC1 | psi-mi:“MI:0915”(physical association) | 0.700 |
| TNNI1 | MDFI | psi-mi:“MI:0915”(physical association) | 0.560 |
| MDFI | TNNI1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MFAP1 | TNNI1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EAF1 | TNNI1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TNNI1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| TNNT1 | TNNI1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM41 | TNNI1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MCRS1 | TNNI1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PIK3R3 | TNNI1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| POLR1C | TNNI1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EFCAB2 | TNNI1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIFC3 | TNNI1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANKRD11 | TNNI1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (59): TNNI1 (Two-hybrid), TNNI1 (Two-hybrid), TNNI1 (Two-hybrid), PNMA1 (Two-hybrid), CCDC85B (Two-hybrid), MYH3 (Co-fractionation), MYH6 (Co-fractionation), MYH7 (Co-fractionation), TNNI1 (Co-fractionation), TPM1 (Co-fractionation), TPM2 (Co-fractionation), TNNI1 (Reconstituted Complex), TNNI1 (Affinity Capture-MS), TNNI1 (Two-hybrid), TNNI1 (Two-hybrid)
ESM2 similar proteins: A2AQ19, B5G1C4, B5XE27, O43395, O43768, O75391, O95983, P19237, P56211, P56212, P60840, P60841, P68210, P68211, Q0MUU2, Q13123, Q13435, Q1L8X2, Q28055, Q28GU6, Q2KI76, Q2KIA6, Q3UJB0, Q3ZBD4, Q5NVI3, Q5R5F1, Q5R5J3, Q5RAD5, Q5RB90, Q5ZIF8, Q5ZJ85, Q5ZLY8, Q66HG8, Q6DEB4, Q6GQG3, Q6NVR1, Q712U5, Q712U6, Q7TNE3, Q7ZXH9
Diamond homologs: O44572, P02643, P02645, P02646, P08057, P13412, P13413, P19237, P19429, P23693, P27672, P27673, P27768, P36188, P48787, P48788, P50754, P68246, P68247, Q20334, Q5PYI0, Q7M3Y3, Q863B6, Q8MKD5, Q969A1, Q9GYF1, Q9WUZ5, P05547, Q9XUN9
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TRIM63 | “down-regulates quantity by destabilization” | TNNI1 | polyubiquitination |
Disease & clinical
Clinical variants and AI predictions
ClinVar
32 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 24 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1103 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:201410321:GGTAC:G | donor_loss | 1.0000 |
| 1:201410322:GTACC:G | donor_loss | 1.0000 |
| 1:201410323:TA:T | donor_loss | 1.0000 |
| 1:201410324:A:C | donor_loss | 1.0000 |
| 1:201410325:C:A | donor_loss | 1.0000 |
| 1:201410325:CCT:C | donor_gain | 1.0000 |
| 1:201410327:T:TA | donor_gain | 1.0000 |
| 1:201410431:CGCTC:C | acceptor_gain | 1.0000 |
| 1:201410433:CTC:C | acceptor_gain | 1.0000 |
| 1:201410434:TCC:T | acceptor_loss | 1.0000 |
| 1:201410435:CCTG:C | acceptor_loss | 1.0000 |
| 1:201410436:C:CC | acceptor_gain | 1.0000 |
| 1:201410436:CTGTA:C | acceptor_loss | 1.0000 |
| 1:201410437:T:G | acceptor_loss | 1.0000 |
| 1:201411351:CCTCA:C | donor_loss | 1.0000 |
| 1:201411352:CTCA:C | donor_loss | 1.0000 |
| 1:201411353:TCAC:T | donor_loss | 1.0000 |
| 1:201411354:CACC:C | donor_loss | 1.0000 |
| 1:201411355:A:AC | donor_gain | 1.0000 |
| 1:201411355:A:AT | donor_loss | 1.0000 |
| 1:201411355:AC:A | donor_gain | 1.0000 |
| 1:201411356:C:CC | donor_gain | 1.0000 |
| 1:201411356:CC:C | donor_gain | 1.0000 |
| 1:201411356:CCTT:C | donor_gain | 1.0000 |
| 1:201411370:T:TA | donor_gain | 1.0000 |
| 1:201411533:TC:T | acceptor_loss | 1.0000 |
| 1:201411534:C:CC | acceptor_gain | 1.0000 |
| 1:201411534:CT:C | acceptor_loss | 1.0000 |
| 1:201413027:CTCA:C | donor_loss | 1.0000 |
| 1:201413028:TCACC:T | donor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000088279 (1:201406510 G>C), RS1000149941 (1:201409460 C>T), RS1000222182 (1:201410890 A>G), RS1000380388 (1:201423156 T>C), RS1000411672 (1:201420736 T>G), RS1000502463 (1:201409245 G>A,T), RS1000750348 (1:201419790 G>A,T), RS1000867065 (1:201420985 C>G,T), RS1001298673 (1:201420676 G>A), RS1001757375 (1:201405248 G>C,T), RS1002099324 (1:201422232 C>T), RS1002233342 (1:201408868 G>C), RS1002455982 (1:201421903 G>A,T), RS1002566866 (1:201407581 C>A,T), RS1002583056 (1:201414331 A>G)
Disease associations
OMIM: gene MIM:191042 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| arthrogryposis | Moderate | Autosomal dominant |
ClinGen Gene-Disease Validity (2)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| childhood-onset nemaline myopathy | Limited | AR |
| nemaline myopathy | Limited | AD |
Mondo (1): arthrogryposis (MONDO:0008779)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001176 | Arthrogryposis | C05.550.150; C05.651.102; C05.660.077; C16.131.621.077 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases methylation, increases expression | 2 |
| methylmercuric chloride | increases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity, increases expression | 1 |
| tebuconazole | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Doxorubicin | increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Dronabinol | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | affects expression | 1 |
| 1-Methyl-4-phenylpyridinium | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
Clinical trials (associated diseases)
9 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01028833 | PHASE2 | COMPLETED | Effects of Power Mobility on Young Children With Severe Motor Impairments |
| NCT01144741 | Not specified | TERMINATED | Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome |
| NCT01306994 | Not specified | WITHDRAWN | Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions |
| NCT01307475 | Not specified | TERMINATED | Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions |
| NCT02218593 | Not specified | COMPLETED | WREX Outcome Study |
| NCT04789746 | Not specified | UNKNOWN | Ready, Set, Go! A Physical Fitness Intervention for Children With Mobility Challenges |
| NCT04798378 | Not specified | ACTIVE_NOT_RECRUITING | NuroSleeve Powered Brace & Stimulation System to Restore Arm Function |
| NCT06192134 | Not specified | NOT_YET_RECRUITING | Continuous Passive Motion Device for Children With Arthrogryposis |
| NCT07429188 | Not specified | RECRUITING | Impact Study on Users of Upper Limb Assistive Devices |
Related Atlas pages
- Associated diseases: arthrogryposis, childhood-onset nemaline myopathy, nemaline myopathy
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): arthrogryposis