Metazoan complexes |
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Details of GARS gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| GARS | --- | P41250 | SYG_HUMAN | 2617 | ENSG00000106105 | Glycine--tRNA ligase | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
Charcot-Marie-Tooth disease 2D (CMT2D) [MIM:601472]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Note=The disease is caused by mutations affecting the gene represented in this entry. | 601472 | Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794]: A disorder characterized by distal muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These constitute a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. Note=The disease is caused by mutations affecting the gene represented in this entry. | 600794 |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormality of central motor function, Abnormality of limb bone morphology, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of the central nervous system, Abnormality of the curvature of the vertebral column, Abnormality of the digits, Abnormality of the foot, Abnormality of the hand, Abnormality of the lower limb, Abnormality of the motor neurons, Abnormality of the musculature, Abnormality of the musculature of the hand, Abnormality of the musculature of the limbs, Abnormality of the musculature of the upper limbs, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the skeletal system, Abnormality of the upper limb, Abnormality of the vertebral column, Abnormality of toe, All, Amyotrophy, Autosomal dominant inheritance, Cold-induced hand cramps, Cold-induced muscle cramps, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Distal upper limb amyotrophy, First dorsal interossei muscle atrophy, First dorsal interossei muscle weakness, Hammertoe, Hand muscle atrophy, Hyperreflexia, Hyporeflexia, Interosseus muscle atrophy, Limb muscle weakness, Mode of inheritance, Muscle cramps, Muscle weakness, Onset and clinical course, Pace of progression, Peripheral neuropathy, Pes cavus, Pes planus, Phenotypic abnormality, Reduced tendon reflexes, Scoliosis, Sensory impairment, Slow progression, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy.
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Gars | Aats-gly | gars-1 | Sp-Gars |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
GARS | MTMR12 | 0.053858052 | GARS | MTMR12 | cpx115 | no | no | no | Novel |
GARS | NPLOC4 | 0.245605773 | GARS | NPLOC4 | cpx115 | no | no | no | Novel |
TARS | GARS | 0.312508899 | TARS | GARS | cpx109 | no | no | no | Novel |
UFD1L | GARS | 0.193594598 | UFD1L | GARS | cpx115 | no | no | no | Novel |
AARS | GARS | 0.35800826 | AARS | GARS | cpx115 | no | yes | no | Known |
SARS | GARS | 0.033162472 | SARS | GARS | cpx109 | no | no | no | Novel |
MTPN | GARS | 0.080473471 | MTPN | GARS | cpx115 | no | no | no | Novel |
HARS2 | GARS | 0.121720033 | HARS2 | GARS | cpx109 | no | no | no | Novel |
GARS | HARS | 0.345674784 | GARS | HARS | cpx109 | no | no | no | Novel |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
---|---|---|---|---|
MARS | GARS | 0.107343283 | MARS | GARS |
PSME1 | GARS | 0.086719056 | PSME1 | GARS |
GARS | HSPBP1 | 0.223452197 | GARS | HSPBP1 |
GFPT1 | GARS | 0.103977381 | GFPT1 | GARS |
GARS | IARS | 0.141126947 | GARS | IARS |
GARS | NMD3 | 0.097860806 | GARS | NMD3 |
GARS | XPNPEP1 | 0.084072995 | GARS | XPNPEP1 |
CIAPIN1 | GARS | 0.11290887 | CIAPIN1 | GARS |
TARSL2 | GARS | 0.091701388 | TARSL2 | GARS |
ASNS | GARS | 0.174271473 | ASNS | GARS |
GARS | SERBP1 | 0.127702956 | GARS | SERBP1 |
GARS | NDRG3 | 0.072754121 | GARS | NDRG3 |
GARS | EPRS | 0.159584507 | GARS | EPRS |
ACAD10 | GARS | 0.075565509 | ACAD10 | GARS |
ARMC1 | GARS | 0.092263174 | ARMC1 | GARS |
GARS | AGL | 0.072432411 | GARS | AGL |
FDPS | GARS | 0.108277384 | FDPS | GARS |
GARS | NUP50 | 0.103736697 | GARS | NUP50 |
GARS | LCMT2 | 0.073581772 | GARS | LCMT2 |