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Details of MATR3 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| MATR3 | KIAA0723 | P43243 | MATR3_HUMAN | 9782 | ENSG00000015479 | Matrin-3 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Myopathy, distal, 2 (MPD2) [MIM:606070]: A muscular disorder characterized by distal weakness, with onset in hands and feet, associated with vocal cord and pharyngeal weakness causing a nasal voice and swallowing disorders. Note=The disease is caused by mutations affecting the gene represented in this entry. | 606070 | ||||||||
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal diaphysis morphology, Abnormality involving the diaphyses of the limbs, Abnormality of circulating enzyme level, Abnormality of circulating protein level, Abnormality of head and neck, Abnormality of limb bone morphology, Abnormality of long bone morphology, Abnormality of metabolism/homeostasis, Abnormality of muscle fibers, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of peripheral nerve conduction, Abnormality of skeletal morphology, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the central nervous system, Abnormality of the esophagus, Abnormality of the face, Abnormality of the gastrointestinal tract, Abnormality of the head, Abnormality of the joints of the lower limbs, Abnormality of the knees, Abnormality of the larynx, Abnormality of the lower limb, Abnormality of the motor neurons, Abnormality of the musculature, Abnormality of the musculature of the limbs, Abnormality of the musculature of the upper limbs, Abnormality of the nasopharynx, Abnormality of the nervous system, Abnormality of the nose, Abnormality of the peripheral nervous system, Abnormality of the pharynx, Abnormality of the respiratory system, Abnormality of the shoulder girdle musculature, Abnormality of the skeletal system, Abnormality of the upper respiratory tract, Abnormality of the vocal cords, Abnormality of the voice, Abnormal joint morphology, All, Aspiration, Autosomal dominant inheritance, Bowing of the legs, Bowing of the long bones, Bowing of the vocal cords, Decreased nerve conduction velocity, Distal muscle weakness, Dysphagia, Elevated serum creatine phosphokinase, Functional respiratory abnormality, Generalized muscle weakness, Genu varum, Hoarse voice, Limb-girdle muscle weakness, Mode of inheritance, Muscle weakness, Myopathy, Peripheral neuropathy, Phenotypic abnormality, Rimmed vacuoles, Shoulder girdle muscle weakness.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Matr3 | --- | --- | --- | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| MATR3 | CALR | 0.174050969 | MATR3 | CALR | cpx14 | no | no | no | Novel |
| MATR3 | HSP90B1 | 0.028976295 | MATR3 | HSP90B1 | cpx14 | no | no | no | Novel |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| MATR3 | YBX1 | 0.074779993 | MATR3 | YBX1 |
| MATR3 | SUB1 | 0.110574895 | MATR3 | SUB1 |
| MATR3 | SNRNP70 | 0.105341568 | MATR3 | SNRNP70 |
| MATR3 | HNRNPU | 0.122476752 | MATR3 | HNRNPU |
| MATR3 | BTF3 | 0.134312933 | MATR3 | BTF3 |
| MATR3 | SRSF3 | 0.173721074 | MATR3 | SRSF3 |
| MATR3 | RUVBL1 | 0.072198388 | MATR3 | RUVBL1 |
| MATR3 | PUF60 | 0.086541051 | MATR3 | PUF60 |
| MATR3 | RPL7 | 0.114236477 | MATR3 | RPL7 |
| MATR3 | EEF1D | 0.109312844 | MATR3 | EEF1D |
| MATR3 | SF3A3 | 0.306075617 | MATR3 | SF3A3 |
| ATP5A1 | MATR3 | 0.137900776 | ATP5A1 | MATR3 |
| MATR3 | SNRPC | 0.125079441 | MATR3 | SNRPC |