LMOD3
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Summary
LMOD3 (leiomodin 3, HGNC:6649) is a protein-coding gene on chromosome 3p14.1, encoding Leiomodin-3 (Q0VAK6). Essential for the organization of sarcomeric actin thin filaments in skeletal muscle.
The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Localization of this protein to the pointed ends of thin filaments has been observed, and there is evidence that this protein acts as a catalyst of actin nucleation, and is important to the organization of sarcomeric thin filaments in skeletal muscles. Mutations in this gene have been associated as one cause of Nemaline myopathy, as other genes have also been linked to this disorder. Nemaline myopathy is a disorder characterized by nonprogressive generalized muscle weakness and protein inclusions (nemaline bodies) in skeletal myofibers. Patients with mutations in this gene often present with a severe congenital form of the disorder.
Source: NCBI Gene 56203 — RefSeq curated summary.
At a glance
- Gene–disease (curated): nemaline myopathy 10 (Definitive, ClinGen) — +2 more curated relationships
- Clinical variants (ClinVar): 458 total — 39 pathogenic, 5 likely-pathogenic
- Phenotypes (HPO): 79
- MANE Select transcript:
NM_198271
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6649 |
| Approved symbol | LMOD3 |
| Name | leiomodin 3 |
| Location | 3p14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000163380 |
| Ensembl biotype | protein_coding |
| OMIM | 616112 |
| Entrez | 56203 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000420581, ENST00000475434, ENST00000489031, ENST00000949407
RefSeq mRNA: 2 — MANE Select: NM_198271
NM_001304418, NM_198271
CCDS: CCDS46862
Canonical transcript exons
ENST00000420581 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001742702 | 69106065 | 69109121 |
| ENSE00001765922 | 69118699 | 69120060 |
| ENSE00001846394 | 69122093 | 69122595 |
Expression profiles
Bgee: expression breadth ubiquitous, 170 present calls, max score 98.93.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.5826 / max 447.9657, expressed in 113 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 42963 | 1.1327 | 73 |
| 42962 | 0.9091 | 76 |
| 42961 | 0.4039 | 74 |
| 42959 | 0.0853 | 27 |
| 42960 | 0.0515 | 22 |
Top tissues by expression
247 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| biceps brachii | UBERON:0001507 | 98.93 | gold quality |
| vastus lateralis | UBERON:0001379 | 98.85 | gold quality |
| quadriceps femoris | UBERON:0001377 | 98.77 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 98.71 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 98.57 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 98.55 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 98.44 | gold quality |
| deltoid | UBERON:0001476 | 98.11 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.96 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 97.63 | gold quality |
| tibialis anterior | UBERON:0001385 | 97.40 | gold quality |
| muscle of leg | UBERON:0001383 | 96.50 | gold quality |
| body of tongue | UBERON:0011876 | 95.13 | gold quality |
| heart left ventricle | UBERON:0002084 | 94.41 | gold quality |
| cardiac ventricle | UBERON:0002082 | 94.32 | gold quality |
| heart right ventricle | UBERON:0002080 | 94.09 | gold quality |
| apex of heart | UBERON:0002098 | 93.84 | gold quality |
| muscle tissue | UBERON:0002385 | 93.21 | gold quality |
| myocardium | UBERON:0002349 | 92.92 | gold quality |
| oocyte | CL:0000023 | 90.69 | gold quality |
| right atrium auricular region | UBERON:0006631 | 90.21 | gold quality |
| cardiac atrium | UBERON:0002081 | 89.95 | gold quality |
| heart | UBERON:0000948 | 89.51 | gold quality |
| secondary oocyte | CL:0000655 | 89.25 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 87.06 | gold quality |
| tongue | UBERON:0001723 | 85.60 | gold quality |
| buccal mucosa cell | CL:0002336 | 83.41 | gold quality |
| parotid gland | UBERON:0001831 | 78.98 | gold quality |
| superior surface of tongue | UBERON:0007371 | 72.57 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 67.05 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-75367 | yes | 32.65 |
| E-ANND-3 | yes | 5.86 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
24 targeting LMOD3, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-4677-5P | 99.70 | 70.09 | 1940 |
| HSA-MIR-3136-3P | 99.57 | 66.59 | 781 |
| HSA-MIR-7155-3P | 99.57 | 66.48 | 794 |
| HSA-MIR-302B-5P | 99.50 | 69.49 | 1857 |
| HSA-MIR-302D-5P | 99.50 | 69.34 | 1863 |
| HSA-MIR-578 | 99.46 | 68.36 | 1787 |
| HSA-MIR-3182 | 99.40 | 68.15 | 2454 |
| HSA-MIR-4777-5P | 99.33 | 67.53 | 1148 |
| HSA-MIR-4727-5P | 99.23 | 67.55 | 1154 |
| HSA-MIR-6738-3P | 99.03 | 67.14 | 1326 |
| HSA-MIR-5001-3P | 98.91 | 67.28 | 1394 |
| HSA-MIR-5197-3P | 98.71 | 67.05 | 1905 |
| HSA-MIR-22-5P | 97.67 | 68.92 | 1355 |
| HSA-MIR-668-3P | 96.18 | 65.80 | 673 |
| HSA-MIR-425-3P | 93.06 | 63.65 | 68 |
Literature-anchored findings (GeneRIF, showing 5)
- LMOD3 is essential for the organization of sarcomeric thin filaments in skeletal muscle. (PMID:25250574)
- LMOD3 mutation is associated with congenital myopathy. (PMID:28815944)
- The LMOD3 gene encodes leiomodin 3, a member of the tropomodulin family of proteins, which is expressed in skeletal muscle from the early stages of differentiation and plays a role in actin thin-filament nucleation. (PMID:29331079)
- LMOD3 is expressed in the brain and colocalized with major structures involved in the regulation of vigilance states. LMOD proteins are structural proteins and seem to be developmentally regulated. (PMID:29923248)
- We characterized the clinical features and the genetic status of 4 unrelated adolescent or adult patients with nemaline myopathy due to the missense variant c.1648C>T, p.(Leu550Phe) in the LMOD3 gene, either on both alleles or in trans with another missense variant (c.1004A>G, p.Gln335Arg). (PMID:30291184)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Lmod3 | ENSMUSG00000044086 |
| rattus_norvegicus | Lmod3 | ENSRNOG00000032443 |
| drosophila_melanogaster | tmod | FBGN0082582 |
| caenorhabditis_elegans | unc-94 | WBGENE00006823 |
Paralogs (6): TMOD2 (ENSG00000128872), TMOD1 (ENSG00000136842), TMOD3 (ENSG00000138594), TMOD4 (ENSG00000163157), LMOD1 (ENSG00000163431), LMOD2 (ENSG00000170807)
Protein
Protein identifiers
Leiomodin-3 — Q0VAK6 (reviewed: Q0VAK6)
Alternative names: Leiomodin, fetal form
All UniProt accessions (1): Q0VAK6
UniProt curated annotations — full annotation on UniProt →
Function. Essential for the organization of sarcomeric actin thin filaments in skeletal muscle. Increases the rate of actin polymerization.
Subunit / interactions. May interact with tropomyosin alpha (TPM1/2) N-terminus. Interacts with KLHL40; leading to stabilization.
Subcellular location. Cytoplasm. Myofibril. Sarcomere. M line. A band. Cytoskeleton.
Tissue specificity. Expressed in cardiac and at higher levels in skeletal muscles (at protein level).
Post-translational modifications. Ubiquitinated, leading to its degradation. Interaction with KLHL40 negatively regulates ubiquitination and degradation.
Disease relevance. Nemaline myopathy 10 (NEM10) [MIM:616165] An autosomal recessive severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM10 is characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Additional features include arthrogryposis or congenital contractures, ophthalmoplegia, a history of prematurity, reduced fetal movements, and polyhydramnios. Most patients die of respiratory failure in early infancy. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the tropomodulin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q0VAK6-1 | 1 | yes |
| Q0VAK6-2 | 2 |
RefSeq proteins (2): NP_001291347, NP_938012* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004934 | TMOD | Family |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
Pfam: PF03250
UniProt features (27 total): compositionally biased region 6, sequence variant 5, region of interest 5, splice variant 4, sequence conflict 3, coiled-coil region 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q0VAK6-F1 | 67.79 | 0.29 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 305 (showing top):
GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_REGULATION_OF_SKELETAL_MUSCLE_TISSUE_DEVELOPMENT, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION, LFA1_Q6, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_ACTIN_FILAMENT_DEPOLYMERIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, CAGCTG_AP4_Q5, COUP_01, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS
GO Biological Process (10): muscle contraction (GO:0006936), striated muscle contraction (GO:0006941), actin filament organization (GO:0007015), myofibril assembly (GO:0030239), skeletal muscle thin filament assembly (GO:0030240), actin nucleation (GO:0045010), skeletal muscle fiber development (GO:0048741), positive regulation of skeletal muscle fiber development (GO:0048743), pointed-end actin filament capping (GO:0051694), striated muscle cell development (GO:0055002)
GO Molecular Function (3): actin monomer binding (GO:0003785), tropomyosin binding (GO:0005523), protein binding (GO:0005515)
GO Cellular Component (6): cytoplasm (GO:0005737), cytoskeleton (GO:0005856), striated muscle thin filament (GO:0005865), myofibril (GO:0030016), M band (GO:0031430), A band (GO:0031672)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| supramolecular fiber organization | 2 |
| actin filament organization | 2 |
| sarcomere | 2 |
| muscle system process | 1 |
| muscle contraction | 1 |
| actin cytoskeleton organization | 1 |
| cellular component assembly involved in morphogenesis | 1 |
| actomyosin structure organization | 1 |
| striated muscle cell development | 1 |
| membraneless organelle assembly | 1 |
| skeletal myofibril assembly | 1 |
| skeletal muscle tissue development | 1 |
| myotube cell development | 1 |
| positive regulation of cell development | 1 |
| positive regulation of skeletal muscle tissue development | 1 |
| skeletal muscle fiber development | 1 |
| regulation of skeletal muscle fiber development | 1 |
| positive regulation of striated muscle cell differentiation | 1 |
| actin filament capping | 1 |
| striated muscle cell differentiation | 1 |
| muscle cell development | 1 |
| actin binding | 1 |
| cytoskeletal protein binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| actin cytoskeleton | 1 |
| myofilament | 1 |
| contractile muscle fiber | 1 |
| A band | 1 |
Protein interactions and networks
STRING
826 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LMOD3 | KLHL40 | Q2TBA0 | 813 |
| LMOD3 | KBTBD13 | C9JR72 | 799 |
| LMOD3 | KLHL41 | O60662 | 775 |
| LMOD3 | NEB | P20929 | 703 |
| LMOD3 | TNNT1 | P13805 | 664 |
| LMOD3 | TPM2 | P06468 | 649 |
| LMOD3 | MYPN | Q86TC9 | 628 |
| LMOD3 | TPM1 | P09493 | 624 |
| LMOD3 | CFL2 | Q9Y281 | 616 |
| LMOD3 | TPM3 | P06753 | 605 |
| LMOD3 | ACTA1 | P02568 | 587 |
| LMOD3 | MYO18B | Q8IUG5 | 585 |
| LMOD3 | COBL | O75128 | 578 |
| LMOD3 | JMY | Q8N9B5 | 498 |
| LMOD3 | PFN4 | Q8NHR9 | 488 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LMO2 | LMOD3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LMOD3 | PLS1 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (7): LMOD3 (Two-hybrid), PLS1 (Affinity Capture-MS), LMOD3 (Cross-Linking-MS (XL-MS)), LMOD3 (Cross-Linking-MS (XL-MS)), LMOD3 (Cross-Linking-MS (XL-MS)), KLHL40 (Affinity Capture-Western), LMOD3 (Two-hybrid)
ESM2 similar proteins: A0M8S4, A0M8T5, A1A5Q0, B9EJA2, E1BTG2, E7F7X0, E9QA62, F7AEX0, O35867, O88665, Q00PJ1, Q02225, Q07DV1, Q07DW4, Q07DX4, Q07DY4, Q07E15, Q07E28, Q07E41, Q09YG9, Q09YI1, Q09YJ3, Q09YK4, Q09YM8, Q0VAK6, Q108T9, Q2IBA2, Q2IBD4, Q2IBE6, Q2IBF7, Q2IBF8, Q2QL82, Q2QLA2, Q2QLB3, Q2QLF8, Q2QLG9, Q2V2M9, Q3UHZ5, Q3UQU0, Q4V8E4
Diamond homologs: A0A0G2K0D3, A0JNC0, A1A5Q0, E1BTG2, E7F7X0, E9QA62, O01479, P28289, P29536, P49813, P70566, P70567, Q0VAK6, Q0VC48, Q3UHZ5, Q6P5Q4, Q8BVA4, Q9JHJ0, Q9JKK7, Q9JLH8, Q9NYL9, Q9NZQ9, Q9NZR1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
458 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 39 |
| Likely pathogenic | 5 |
| Uncertain significance | 232 |
| Likely benign | 134 |
| Benign | 23 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1323241 | NM_198271.5(LMOD3):c.1342C>T (p.Gln448Ter) | Pathogenic |
| 1323243 | NM_198271.5(LMOD3):c.1020_1023del (p.Thr341fs) | Pathogenic |
| 1354391 | NM_198271.5(LMOD3):c.1192del (p.Arg398fs) | Pathogenic |
| 1395938 | NM_198271.5(LMOD3):c.1472dup (p.Arg492fs) | Pathogenic |
| 1417273 | NM_198271.5(LMOD3):c.971del (p.Gly324fs) | Pathogenic |
| 1451345 | NM_198271.5(LMOD3):c.704C>G (p.Ser235Ter) | Pathogenic |
| 1451618 | NM_198271.5(LMOD3):c.1219C>T (p.Gln407Ter) | Pathogenic |
| 1457468 | NM_198271.5(LMOD3):c.80_95del (p.Asn26_Leu27insTer) | Pathogenic |
| 162215 | NM_198271.5(LMOD3):c.138dup (p.Ser47fs) | Pathogenic |
| 162217 | NM_198271.5(LMOD3):c.1201C>T (p.Arg401Ter) | Pathogenic |
| 162219 | NM_198271.5(LMOD3):c.1069G>T (p.Glu357Ter) | Pathogenic |
| 2149678 | NM_198271.5(LMOD3):c.1330C>T (p.Gln444Ter) | Pathogenic |
| 2169511 | NM_198271.5(LMOD3):c.882dup (p.Asp295fs) | Pathogenic |
| 2176069 | NM_198271.5(LMOD3):c.278_288del (p.Thr93fs) | Pathogenic |
| 2501771 | NM_198271.5(LMOD3):c.944_945del (p.Leu315fs) | Pathogenic |
| 2571781 | NM_198271.5(LMOD3):c.360dup (p.Glu121fs) | Pathogenic |
| 2712484 | NM_198271.5(LMOD3):c.131_132del (p.Pro44fs) | Pathogenic |
| 2898508 | NM_198271.5(LMOD3):c.780del (p.Asn261fs) | Pathogenic |
| 3012412 | NM_198271.5(LMOD3):c.637dup (p.Ile213fs) | Pathogenic |
| 3643646 | NM_198271.5(LMOD3):c.1434C>G (p.Tyr478Ter) | Pathogenic |
| 3656192 | NM_198271.5(LMOD3):c.1543_1544del (p.Ile515fs) | Pathogenic |
| 3691947 | NM_198271.5(LMOD3):c.1012G>T (p.Glu338Ter) | Pathogenic |
| 3720520 | NM_198271.5(LMOD3):c.1372C>T (p.Gln458Ter) | Pathogenic |
| 374498 | NM_198271.5(LMOD3):c.1648C>T (p.Leu550Phe) | Pathogenic |
| 374499 | NM_198271.5(LMOD3):c.1004A>G (p.Gln335Arg) | Pathogenic |
| 3906263 | NM_198271.5(LMOD3):c.112del (p.Glu38fs) | Pathogenic |
| 4070599 | NM_198271.5(LMOD3):c.391A>T (p.Lys131Ter) | Pathogenic |
| 4070600 | NM_198271.5(LMOD3):c.106C>T (p.Gln36Ter) | Pathogenic |
| 4726249 | NM_198271.5(LMOD3):c.658A>T (p.Lys220Ter) | Pathogenic |
| 4731299 | NM_198271.5(LMOD3):c.319G>T (p.Glu107Ter) | Pathogenic |
SpliceAI
360 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:69120058:TTCC:T | acceptor_loss | 0.9900 |
| 3:69120059:TCC:T | acceptor_loss | 0.9900 |
| 3:69120061:CTAC:C | acceptor_loss | 0.9900 |
| 3:69120062:T:A | acceptor_loss | 0.9900 |
| 3:69122087:GGTTA:G | donor_loss | 0.9900 |
| 3:69122088:GTTAC:G | donor_loss | 0.9900 |
| 3:69122089:TTA:T | donor_loss | 0.9900 |
| 3:69122090:TA:T | donor_loss | 0.9900 |
| 3:69122091:A:AG | donor_loss | 0.9900 |
| 3:69122195:T:A | donor_gain | 0.9900 |
| 3:69122268:T:TA | donor_gain | 0.9900 |
| 3:69118691:CTACT:C | donor_loss | 0.9800 |
| 3:69118692:TACTT:T | donor_loss | 0.9800 |
| 3:69118693:ACTTA:A | donor_loss | 0.9800 |
| 3:69118694:CT:C | donor_loss | 0.9800 |
| 3:69118695:TTACA:T | donor_loss | 0.9800 |
| 3:69118696:TACAG:T | donor_loss | 0.9800 |
| 3:69118697:A:AC | donor_gain | 0.9800 |
| 3:69118697:ACAG:A | donor_loss | 0.9800 |
| 3:69118698:C:CC | donor_gain | 0.9800 |
| 3:69118698:CAG:C | donor_gain | 0.9800 |
| 3:69120061:C:CC | acceptor_gain | 0.9800 |
| 3:69118690:TCTAC:T | donor_loss | 0.9700 |
| 3:69121523:TCAAA:T | donor_gain | 0.9700 |
| 3:69109121:CCTGC:C | acceptor_loss | 0.9600 |
| 3:69109122:C:CA | acceptor_loss | 0.9600 |
| 3:69109123:T:C | acceptor_loss | 0.9600 |
| 3:69118698:CA:C | donor_gain | 0.9600 |
| 3:69118698:CAGG:C | donor_gain | 0.9600 |
| 3:69120059:TC:T | acceptor_gain | 0.9600 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000213784 (3:69107067 C>G), RS1000277100 (3:69112697 C>T), RS1000424422 (3:69121784 G>A,C), RS1000492842 (3:69123277 T>G), RS1000651914 (3:69111278 G>A), RS1000662429 (3:69116896 T>C), RS1000820899 (3:69117831 TG>T,TGG), RS1001263961 (3:69115582 C>G), RS1001428054 (3:69120502 T>A,C), RS1001549141 (3:69112095 T>A), RS1001650806 (3:69109774 T>C), RS1001695460 (3:69115841 T>C), RS1002233831 (3:69112395 A>C), RS1002665233 (3:69115065 A>G), RS1002669038 (3:69114653 G>A,C)
Disease associations
OMIM: gene MIM:616112 | disease phenotypes: MIM:616165, MIM:616654
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| nemaline myopathy 10 | Definitive | Autosomal recessive |
| severe congenital nemaline myopathy | Supportive | Autosomal recessive |
| typical nemaline myopathy | Supportive | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| nemaline myopathy 10 | Definitive | AR |
Mondo (4): nemaline myopathy 10 (MONDO:0014513), Joubert syndrome 24 (MONDO:0014724), severe congenital nemaline myopathy (MONDO:0015735), typical nemaline myopathy (MONDO:0015737)
Orphanet (1): Isolated Joubert syndrome (Orphanet:475)
HPO phenotypes
79 total (30 of 79 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000047 | Hypospadias |
| HP:0000054 | Micropenis |
| HP:0000218 | High palate |
| HP:0000239 | Large fontanelles |
| HP:0000275 | Narrow face |
| HP:0000347 | Micrognathia |
| HP:0000369 | Low-set ears |
| HP:0000470 | Short neck |
| HP:0000508 | Ptosis |
| HP:0000602 | Ophthalmoplegia |
| HP:0000765 | Abnormal thorax morphology |
| HP:0000767 | Pectus excavatum |
| HP:0000774 | Narrow chest |
| HP:0000775 | Abnormality of the diaphragm |
| HP:0000883 | Thin ribs |
| HP:0001181 | Adducted thumb |
| HP:0001265 | Hyporeflexia |
| HP:0001270 | Motor delay |
| HP:0001283 | Bulbar palsy |
| HP:0001288 | Gait disturbance |
| HP:0001290 | Generalized hypotonia |
| HP:0001319 | Neonatal hypotonia |
| HP:0001324 | Muscle weakness |
| HP:0001337 | Tremor |
| HP:0001349 | Facial diplegia |
| HP:0001371 | Flexion contracture |
| HP:0001522 | Death in infancy |
| HP:0001558 | Decreased fetal movement |
| HP:0001561 | Polyhydramnios |
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
13 total (human), top 13 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Doxorubicin | decreases expression | 2 |
| isobutyl alcohol | decreases expression, increases abundance, affects cotreatment | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Cisplatin | increases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Polycyclic Aromatic Hydrocarbons | decreases expression, increases abundance, affects cotreatment | 1 |
| Valproic Acid | decreases methylation | 1 |
| Particulate Matter | affects cotreatment, decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: nemaline myopathy 10, severe congenital nemaline myopathy, typical nemaline myopathy
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Joubert syndrome 24, nemaline myopathy 10, severe congenital nemaline myopathy, typical nemaline myopathy