MYL1
gene geneOn this page
Also known as MLC1MLC1FMLC3FMLC-1MLC1/3
Summary
MYL1 (myosin light chain 1, HGNC:7582) is a protein-coding gene on chromosome 2q34, encoding Myosin light chain 1/3, skeletal muscle isoform (P05976). Non-regulatory myosin light chain required for proper formation and/or maintenance of myofibers, and thus appropriate muscle function.
Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene.
Source: NCBI Gene 4632 — RefSeq curated summary.
At a glance
- Gene–disease (curated): congenital myopathy with reduced type 2 muscle fibers (Moderate, GenCC) — +1 more curated relationship
- GWAS associations: 1
- Clinical variants (ClinVar): 54 total — 1 likely-pathogenic
- Phenotypes (HPO): 30
- MANE Select transcript:
NM_079420
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7582 |
| Approved symbol | MYL1 |
| Name | myosin light chain 1 |
| Location | 2q34 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MLC1, MLC1F, MLC3F, MLC-1, MLC1/3 |
| Ensembl gene | ENSG00000168530 |
| Ensembl biotype | protein_coding |
| OMIM | 160780 |
| Entrez | 4632 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 3 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000341685, ENST00000352451, ENST00000484290, ENST00000496436, ENST00000957378
RefSeq mRNA: 2 — MANE Select: NM_079420
NM_079420, NM_079422
CCDS: CCDS2390, CCDS2391
Canonical transcript exons
ENST00000352451 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001123661 | 210314911 | 210315174 |
| ENSE00001463246 | 210290150 | 210290467 |
| ENSE00003525590 | 210293723 | 210293800 |
| ENSE00003547920 | 210294245 | 210294418 |
| ENSE00003569484 | 210302488 | 210302515 |
| ENSE00003600404 | 210291032 | 210291074 |
| ENSE00003680167 | 210298420 | 210298563 |
Expression profiles
Bgee: expression breadth ubiquitous, 164 present calls, max score 99.94.
FANTOM5 (CAGE): breadth broad, TPM avg 49.1174 / max 12152.1140, expressed in 213 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 33478 | 33.2683 | 185 |
| 33480 | 14.1656 | 96 |
| 33479 | 1.4842 | 36 |
| 202556 | 0.1114 | 21 |
| 202557 | 0.0878 | 18 |
Top tissues by expression
275 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| biceps brachii | UBERON:0001507 | 99.94 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 99.94 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.92 | gold quality |
| body of tongue | UBERON:0011876 | 99.92 | gold quality |
| gastrocnemius | UBERON:0001388 | 99.90 | gold quality |
| triceps brachii | UBERON:0001509 | 99.90 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 99.89 | gold quality |
| diaphragm | UBERON:0001103 | 99.87 | gold quality |
| quadriceps femoris | UBERON:0001377 | 99.87 | gold quality |
| tibialis anterior | UBERON:0001385 | 99.87 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 99.86 | gold quality |
| vastus lateralis | UBERON:0001379 | 99.85 | gold quality |
| gluteal muscle | UBERON:0002000 | 99.85 | gold quality |
| deltoid | UBERON:0001476 | 99.76 | gold quality |
| muscle organ | UBERON:0001630 | 98.52 | gold quality |
| muscle of leg | UBERON:0001383 | 97.99 | gold quality |
| tongue | UBERON:0001723 | 92.82 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 92.65 | gold quality |
| muscle tissue | UBERON:0002385 | 91.43 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 90.36 | gold quality |
| superior surface of tongue | UBERON:0007371 | 87.50 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 81.88 | gold quality |
| oral cavity | UBERON:0000167 | 80.55 | gold quality |
| minor salivary gland | UBERON:0001830 | 75.89 | gold quality |
| mouth mucosa | UBERON:0003729 | 75.45 | gold quality |
| apex of heart | UBERON:0002098 | 73.50 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 73.08 | gold quality |
| heart left ventricle | UBERON:0002084 | 70.71 | gold quality |
| vena cava | UBERON:0004087 | 69.97 | gold quality |
| cardiac ventricle | UBERON:0002082 | 69.91 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-124472 | yes | 5410.93 |
| E-HCAD-56 | yes | 3197.53 |
| E-ANND-5 | yes | 800.86 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): JARID2, MITF, MYOD1, MYOG
miRNA regulators (miRDB)
50 targeting MYL1, 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-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-6772-5P | 99.94 | 67.01 | 577 |
| HSA-MIR-219A-5P | 99.91 | 73.36 | 735 |
| HSA-MIR-4782-3P | 99.88 | 73.31 | 735 |
| HSA-MIR-6766-3P | 99.88 | 73.38 | 732 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-609 | 99.82 | 64.26 | 505 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
| HSA-MIR-7856-5P | 99.75 | 69.99 | 2901 |
| HSA-MIR-4677-5P | 99.70 | 70.09 | 1940 |
| HSA-MIR-6512-3P | 99.65 | 66.07 | 1468 |
| HSA-MIR-6720-5P | 99.65 | 66.22 | 1459 |
| HSA-MIR-7156-5P | 99.64 | 68.81 | 1369 |
| HSA-MIR-4499 | 99.62 | 67.29 | 1470 |
| HSA-MIR-4756-3P | 99.62 | 66.30 | 1319 |
| HSA-MIR-4452 | 99.50 | 68.45 | 1493 |
| HSA-MIR-3171 | 99.49 | 69.06 | 776 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-3140-5P | 99.39 | 69.04 | 1136 |
| HSA-MIR-520A-5P | 99.35 | 66.72 | 1632 |
Literature-anchored findings (GeneRIF, showing 13)
- In vitro degradation of human recombinant MLC1 by MMP-2 increased after ONOO(-) exposure of MLC1 in a concentration-dependent manner (PMID:20518849)
- Influenza infection activates a series of signaling pathways that converge to induce myosin light chain (MLC) phosphorylation and remodeling of the actin cytoskeleton. (PMID:21731751)
- Disturbed myosin binding of mutated hVLC-1 may provide a pathomechanism for the development of hypertrohic cardiomyopathy. (PMID:22131351)
- MRK is a novel RhoC effector that controls LPA-stimulated cell invasion at least in part by regulating myosin dynamics, ERK and p38 (PMID:23319595)
- This study provides an additional mechanistic link between Angiotensin II and vasoconstriction via SFK-enhanced MLC phosphorylation in smooth muscle cells. (PMID:26011449)
- polymorphism of intron MYL1 was associated with endurance performance, specifically in endurance trainability, but not genetic predisposition, in human adults. (PMID:26473445)
- these results provide new insights into the sequences and modifications of myosin light chain isoforms in the human and swine hearts, which will pave the way for a better understanding of their functional roles in cardiac physiology and pathophysiology. (PMID:28427997)
- MLCK and phosphorylated MLC are potential prognostic indicators of leiomyosarcoma. (PMID:28618653)
- These results support the concept of the ATP-induced transient interaction of the essential light chain-1 N-terminus with the motor domain of the myosin head. (PMID:29102634)
- Our data implicate MYL1 as a crucial protein for adequate skeletal muscle function and that MYL1 deficiency is associated with severe congenital myopathy. (PMID:30215711)
- MYBPC2 and MYL1 as Significant Gene Markers for Rhabdomyosarcoma. (PMID:33499774)
- MYL2 as a potential predictive biomarker for rhabdomyosarcoma. (PMID:34596111)
- Analysis of myosin genes in HNSCC and identify MYL1 as a specific poor prognostic biomarker, promotes tumor metastasis and correlates with tumor immune infiltration in HNSCC. (PMID:37679666)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | myl1 | ENSDARG00000014196 |
| danio_rerio | mylz3 | ENSDARG00000017441 |
| mus_musculus | Myl1 | ENSMUSG00000061816 |
| rattus_norvegicus | Myl1_v1 | ENSRNOG00000013262 |
| drosophila_melanogaster | Mlc-c | FBGN0004687 |
| caenorhabditis_elegans | WBGENE00010554 | |
| caenorhabditis_elegans | WBGENE00011734 |
Paralogs (4): MYL6 (ENSG00000092841), MYL3 (ENSG00000160808), MYL6B (ENSG00000196465), MYL4 (ENSG00000198336)
Protein
Protein identifiers
Myosin light chain 1/3, skeletal muscle isoform — P05976 (reviewed: P05976)
Alternative names: Myosin light chain alkali 1/2
All UniProt accessions (1): P05976
UniProt curated annotations — full annotation on UniProt →
Function. Non-regulatory myosin light chain required for proper formation and/or maintenance of myofibers, and thus appropriate muscle function.
Subunit / interactions. Myosin is a hexamer of 2 heavy chains and 4 light chains. Does not bind calcium.
Post-translational modifications. Acetylated at position 2.
Disease relevance. Congenital myopathy 14 (CMYO14) [MIM:618414] An autosomal recessive congenital myopathy characterized by decreased fetal movements, severe muscle weakness and respiratory failure. Additional features include delayed motor development, areflexia, facial weakness, normal eye movements, head lag, and mild contractures. Skeletal muscle biopsy shows variation in fiber size with atrophy of the fast-twitch type II fibers. The disease is caused by variants affecting the gene represented in this entry.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P05976-1 | MLC1 | yes |
| P05976-2 | MLC3 |
RefSeq proteins (2): NP_524144, NP_524146 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002048 | EF_hand_dom | Domain |
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR050230 | CALM/Myosin/TropC-like | Family |
UniProt features (17 total): modified residue 6, domain 3, initiator methionine 2, chain 1, splice variant 1, sequence variant 1, sequence conflict 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P05976-F1 | 88.63 | 0.77 |
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 (6): 87, 99, 2, 2, 71, 73
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-390522 | Striated Muscle Contraction |
| R-HSA-397014 | Muscle contraction |
MSigDB gene sets: 397 (showing top):
HNF3ALPHA_Q6, GAANYNYGACNY_UNKNOWN, GOBP_CELLULAR_RESPONSE_TO_LIPID, TGACCTY_ERR1_Q2, MEF2_02, GOBP_VESICLE_MEDIATED_TRANSPORT, MODULE_16, MODULE_329, LHX3_01, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, HUMMERICH_SKIN_CANCER_PROGRESSION_DN, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT, NIKOLSKY_BREAST_CANCER_22Q13_AMPLICON, MODULE_66, MODULE_118
GO Biological Process (2): muscle contraction (GO:0006936), muscle filament sliding (GO:0030049)
GO Molecular Function (2): calcium ion binding (GO:0005509), structural constituent of muscle (GO:0008307)
GO Cellular Component (7): cytosol (GO:0005829), muscle myosin complex (GO:0005859), myosin II complex (GO:0016460), myofibril (GO:0030016), sarcomere (GO:0030017), contractile muscle fiber (GO:0043292), myosin complex (GO:0016459)
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 |
|---|---|
| cytoplasm | 2 |
| cellular anatomical structure | 2 |
| contractile muscle fiber | 2 |
| muscle system process | 1 |
| muscle contraction | 1 |
| actin-myosin filament sliding | 1 |
| metal ion binding | 1 |
| structural molecule activity | 1 |
| myosin II complex | 1 |
| myosin complex | 1 |
| myofibril | 1 |
| intracellular membraneless organelle | 1 |
| supramolecular fiber | 1 |
| actin cytoskeleton | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
2433 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MYL1 | MLC1 | Q15049 | 872 |
| MYL1 | MYH2 | Q9UKX2 | 756 |
| MYL1 | ACTA1 | P02568 | 719 |
| MYL1 | TPM1 | P09493 | 715 |
| MYL1 | ACTN3 | Q08043 | 651 |
| MYL1 | CRYGA | P11844 | 649 |
| MYL1 | TNNI2 | P48788 | 646 |
| MYL1 | TNNT3 | P45378 | 627 |
| MYL1 | TTN | Q8WZ42 | 626 |
| MYL1 | MYH1 | P12882 | 599 |
| MYL1 | CASQ1 | P31415 | 599 |
| MYL1 | TPM3 | P06753 | 596 |
| MYL1 | MYL2 | P10916 | 592 |
| MYL1 | VIL1 | P09327 | 592 |
| MYL1 | TPM2 | P06468 | 587 |
IntAct
60 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HSPB8 | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| S100A4 | OIP5 | psi-mi:“MI:0914”(association) | 0.530 |
| MYL1 | PCNA | psi-mi:“MI:0915”(physical association) | 0.370 |
| COX15 | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.350 |
| DLST | psi-mi:“MI:0914”(association) | 0.350 | |
| HSD17B10 | HMGB1P1 | psi-mi:“MI:0914”(association) | 0.350 |
| HSD17B10 | HNRNPDL | psi-mi:“MI:0914”(association) | 0.350 |
| COX15 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| BMI1 | MEIS3P1 | psi-mi:“MI:0914”(association) | 0.350 |
| BCKDK | AIP | psi-mi:“MI:0914”(association) | 0.350 |
| CASK | ABLIM1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRKACB | MYL1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| CALM1 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| CALM3 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A3 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| MECOM | ATP2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| RBMX2 | NSD2 | psi-mi:“MI:0914”(association) | 0.350 |
| TLE3 | COL1A1 | psi-mi:“MI:0914”(association) | 0.350 |
| HIF1A | MYL1 | psi-mi:“MI:0914”(association) | 0.350 |
| MYL4 | MYL1 | psi-mi:“MI:0914”(association) | 0.350 |
| TNFSF14 | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| LATS1 | ATP2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN33 | ATP2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| FKBP6 | VGF | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (65): IQGAP1 (Protein-peptide), MYL1 (Affinity Capture-MS), MYL1 (Affinity Capture-MS), MYL1 (Affinity Capture-MS), MYL1 (Reconstituted Complex), MYL1 (Affinity Capture-MS), MYL1 (Affinity Capture-MS), MYL1 (Affinity Capture-MS), MYL1 (Affinity Capture-MS), MYL1 (Affinity Capture-MS), MYL1 (Affinity Capture-MS), MYL1 (Affinity Capture-MS), MYL1 (Affinity Capture-MS), MYL1 (Affinity Capture-MS), MYL1 (Affinity Capture-MS)
ESM2 similar proteins: A0A125YHX7, A0JNJ5, F1RRT2, J7HCX7, O15182, O35648, P02600, P02602, P02604, P02605, P02606, P05434, P05976, P05977, P06742, P08590, P09540, P09541, P09542, P12829, P14649, P16409, P17209, P41044, P41208, P41209, P53014, P53441, P54213, P54357, P82159, P82160, P85100, Q06827, Q09196, Q12798, Q24621, Q24654, Q24756, Q27177
Diamond homologs: A0JNJ5, A2Y609, A3E3H0, A3E4D8, A3E4F9, A4UHC0, A8CEP3, A8I1Q0, F1RRT2, J7HCX7, O14008, O60041, O82018, O94739, P02597, P02598, P02600, P02602, P02604, P02605, P02606, P02607, P04353, P04464, P05419, P05976, P05977, P06742, P06787, P07290, P07291, P07462, P07463, P08053, P08590, P09540, P09541, P09542, P0DH95, P0DH96
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MAPK3 | up-regulates | MYL1 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
54 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 23 |
| Likely benign | 9 |
| Benign | 18 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4279087 | NM_079420.3(MYL1):c.479-25T>C | Likely pathogenic |
SpliceAI
801 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:210291029:TA:T | donor_loss | 1.0000 |
| 2:210291030:A:AT | donor_loss | 1.0000 |
| 2:210291031:CCTT:C | donor_loss | 1.0000 |
| 2:210291070:AAAAG:A | acceptor_gain | 1.0000 |
| 2:210291071:AAAG:A | acceptor_gain | 1.0000 |
| 2:210291072:AAG:A | acceptor_gain | 1.0000 |
| 2:210291073:AG:A | acceptor_gain | 1.0000 |
| 2:210291073:AGCTG:A | acceptor_loss | 1.0000 |
| 2:210291074:GCTG:G | acceptor_loss | 1.0000 |
| 2:210291075:C:CC | acceptor_gain | 1.0000 |
| 2:210291075:CTGTA:C | acceptor_loss | 1.0000 |
| 2:210291076:T:G | acceptor_loss | 1.0000 |
| 2:210291084:C:CT | acceptor_gain | 1.0000 |
| 2:210291085:A:T | acceptor_gain | 1.0000 |
| 2:210293722:C:CT | donor_loss | 1.0000 |
| 2:210294240:CTTA:C | donor_loss | 1.0000 |
| 2:210294242:TACC:T | donor_loss | 1.0000 |
| 2:210294243:A:AC | donor_gain | 1.0000 |
| 2:210294243:A:AT | donor_loss | 1.0000 |
| 2:210294243:AC:A | donor_gain | 1.0000 |
| 2:210294244:C:CA | donor_loss | 1.0000 |
| 2:210294244:C:CC | donor_gain | 1.0000 |
| 2:210294244:CC:C | donor_gain | 1.0000 |
| 2:210294298:T:TA | donor_gain | 1.0000 |
| 2:210294414:CAGCT:C | acceptor_gain | 1.0000 |
| 2:210294415:AGCT:A | acceptor_gain | 1.0000 |
| 2:210294416:GCT:G | acceptor_gain | 1.0000 |
| 2:210294416:GCTCT:G | acceptor_loss | 1.0000 |
| 2:210294417:CT:C | acceptor_gain | 1.0000 |
| 2:210294417:CTC:C | acceptor_gain | 1.0000 |
AlphaMissense
1288 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:210294268:A:G | L152P | 0.999 |
| 2:210294385:A:G | F113S | 0.999 |
| 2:210298538:A:C | F62L | 0.999 |
| 2:210298538:A:T | F62L | 0.999 |
| 2:210298540:A:G | F62L | 0.999 |
| 2:210298547:A:C | F59L | 0.999 |
| 2:210298547:A:T | F59L | 0.999 |
| 2:210298549:A:G | F59L | 0.999 |
| 2:210291068:A:T | V188D | 0.998 |
| 2:210293800:C:A | G160V | 0.998 |
| 2:210293800:C:T | G160D | 0.998 |
| 2:210294245:C:G | G160R | 0.998 |
| 2:210294256:A:G | L156P | 0.998 |
| 2:210294265:C:G | R153P | 0.998 |
| 2:210294268:A:T | L152H | 0.998 |
| 2:210294283:A:T | V147D | 0.998 |
| 2:210294305:C:G | D140H | 0.998 |
| 2:210294306:A:C | F139L | 0.998 |
| 2:210294306:A:T | F139L | 0.998 |
| 2:210294308:A:G | F139L | 0.998 |
| 2:210294316:A:G | L136P | 0.998 |
| 2:210294320:C:G | G135R | 0.998 |
| 2:210298452:A:T | V91D | 0.998 |
| 2:210298485:C:G | R80P | 0.998 |
| 2:210298488:A:G | L79P | 0.998 |
| 2:210298548:A:G | F59S | 0.998 |
| 2:210293767:A:G | L171P | 0.997 |
| 2:210294304:T:A | D140V | 0.997 |
| 2:210294304:T:G | D140A | 0.997 |
| 2:210294313:C:G | R137P | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000115659 (2:210303712 A>G), RS1000128713 (2:210309764 G>A), RS1000178468 (2:210291383 C>G), RS1000261985 (2:210310056 C>A,T), RS1000314675 (2:210309727 T>A), RS1000553421 (2:210289953 T>G), RS1000792813 (2:210298184 G>A,C), RS1000826452 (2:210316214 C>G,T), RS1000845032 (2:210298000 G>A,T), RS1000926490 (2:210303172 G>A), RS1001007563 (2:210304859 G>C,T), RS1001091168 (2:210292182 C>A), RS1001246133 (2:210316710 A>T), RS1001467644 (2:210295543 A>G), RS1001523523 (2:210305137 G>A)
Disease associations
OMIM: gene MIM:160780 | disease phenotypes: MIM:618414
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| congenital myopathy with reduced type 2 muscle fibers | Moderate | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| congenital myopathy | Limited | AR |
Mondo (1): congenital myopathy with reduced type 2 muscle fibers (MONDO:0034109)
Orphanet (1): Congenital myopathy with reduced type 2 muscle fibers (Orphanet:544602)
HPO phenotypes
30 total (30 of 30 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000218 | High palate |
| HP:0000467 | Neck muscle weakness |
| HP:0001252 | Hypotonia |
| HP:0001270 | Motor delay |
| HP:0001284 | Areflexia |
| HP:0001371 | Flexion contracture |
| HP:0001522 | Death in infancy |
| HP:0001558 | Decreased fetal movement |
| HP:0001561 | Polyhydramnios |
| HP:0002058 | Myopathic facies |
| HP:0002104 | Apnea |
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
| HP:0002878 | Respiratory failure |
| HP:0002987 | Elbow flexion contracture |
| HP:0003273 | Hip contracture |
| HP:0003324 | Generalized muscle weakness |
| HP:0003327 | Axial muscle weakness |
| HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0003577 | Congenital onset |
| HP:0003701 | Proximal muscle weakness |
| HP:0003803 | Type 1 muscle fiber predominance |
| HP:0006380 | Knee flexion contracture |
| HP:0011968 | Feeding difficulties |
| HP:0030319 | Weakness of facial musculature |
| HP:0032988 | Persistent head lag |
| HP:0040081 | Abnormal circulating creatine kinase concentration |
| HP:0040288 | Nasogastric tube feeding |
| HP:0100297 | Increased endomysial connective tissue |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006249_100 | Serum metabolite levels | 9.000000e-19 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
14 total (human), top 14 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| methylmercuric chloride | increases expression | 1 |
| scoparone | decreases phosphorylation | 1 |
| tanshinone | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| deguelin | decreases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Clozapine | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Norepinephrine | increases phosphorylation, affects reaction | 1 |
| Triclosan | increases expression | 1 |
| 1-Methyl-4-phenylpyridinium | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Permethrin | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: congenital myopathy with reduced type 2 muscle fibers, congenital myopathy
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): congenital myopathy with reduced type 2 muscle fibers