|
Metazoan complexes |
Emili & Marcotte labs |
- Home
-
H.sapiens
-
M.musculus
-
D.melanogaster
-
C.elegans
-
S.purpuratus
-
Conserved map
-
PPI Projections
- Download
- Help
- Contact
Details of MYH7 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| MYH7 | MYHCB | P12883 | MYH7_HUMAN | 4625 | ENSG00000092054 | Myosin-7 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Note=The disease is caused by mutations affecting the gene represented in this entry. | 192600 | Myopathy, myosin storage (MYOMS) [MIM:608358]: A rare congenital myopathy characterized by subsarcolemmal hyalinized bodies in type 1 muscle fibers. Note=The disease is caused by mutations affecting the gene represented in this entry. | 608358 | Scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430]: Progressive muscular atrophia beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm. Note=The disease is caused by mutations affecting the gene represented in this entry. | 181430 | Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Note=The disease is caused by mutations affecting the gene represented in this entry. | 613426 | Myopathy, distal, 1 (MPD1) [MIM:160500]: A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease. Note=The disease is caused by mutations affecting the gene represented in this entry. | 160500 |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormality of cardiac ventricle, Abnormality of cardiovascular system physiology, Abnormality of circulating enzyme level, Abnormality of circulating protein level, Abnormality of limb bone morphology, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle fibers, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of skeletal morphology, Abnormality of the calf musculature, Abnormality of the cardiovascular system, Abnormality of the foot musculature, Abnormality of the hand, Abnormality of the heart, Abnormality of the left ventricle, Abnormality of the left ventricular outflow tract, Abnormality of the musculature, Abnormality of the musculature of the hand, Abnormality of the musculature of the limbs, Abnormality of the musculature of the lower limbs, Abnormality of the musculature of the upper limbs, Abnormality of the myocardium, Abnormality of the nervous system, Abnormality of the respiratory system, Abnormality of the scapula, Abnormality of the shoulder girdle musculature, Abnormality of the skeletal system, Abnormality of the thorax, Abnormality of the upper limb, Adult onset, Age of onset, All, Amyotrophy, Amyotrophy involving the shoulder musculature, Amyotrophy of ankle musculature, Asymmetric septal hypertrophy, Autosomal dominant inheritance, Autosomal recessive inheritance, Calf muscle pseudohypertrophy, Cardiomyopathy, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Death, Dilated cardiomyopathy, Elevated serum creatine phosphokinase, EMG abnormality, EMG: myopathic abnormalities, Functional respiratory abnormality, Gait disturbance, Hypertrophic cardiomyopathy, Juvenile onset, Late onset, Malformation of the heart and great vessels, Mildly elevated creatine phosphokinase, Mode of inheritance, Muscle weakness, Myopathy, Onset, Onset and clinical course, Pace of progression, Phenotypic abnormality, Proximal muscle weakness, Reduced vital capacity, Rimmed vacuoles, Scapular winging, Scapuloperoneal amyotrophy, Scapuloperoneal myopathy, Scapuloperoneal weakness, Slow progression, Subvalvular aortic stenosis, Sudden death, Type 1 muscle fiber predominance, Waddling gait, Weakness of long finger extensor muscles.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Myh7 | FBgn0086783 | let-75... | Sp-My18A putative homolog | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| MYH7 | ACTN3 | 0.282453415 | MYH7 | ACTN3 | cpx376 | no | no | no | Novel |
| MYH7 | ACTN2 | 0.361934231 | MYH7 | ACTN2 | cpx111 | no | no | no | Novel |
| TNNI1 | MYH7 | 0.124714765 | TNNI1 | MYH7 | cpx111 | no | no | no | Novel |
| MYH7 | TPM2 | 0.999996877 | MYH7 | TPM2 | cpx111 | no | no | no | Novel |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|