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Details of RAB7A gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| RAB7A | RAB7 | P51149 | RAB7A_HUMAN | 7879 | ENSG00000075785 | Ras-related protein Rab-7a | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Charcot-Marie-Tooth disease 2B (CMT2B) [MIM:600882]: 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. | 600882 | ||||||||
Phenotypes
Abnormal appendicular skeleton morphology, Abnormality of limb bone morphology, Abnormality of movement, Abnormality of muscle morphology, Abnormality of skeletal morphology, Abnormality of skeletal physiology, Abnormality of skin adnexa, Abnormality of the digits, Abnormality of the foot, Abnormality of the foot musculature, Abnormality of the integument, Abnormality of the lower limb, Abnormality of the musculature, Abnormality of the musculature of the limbs, Abnormality of the musculature of the lower limbs, Abnormality of the nail, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the skeletal system, Abnormality of toe, Abnormal peripheral myelination, All, Amyotrophy, Areflexia, Autoamputation, Autoamputation (feet), Autosomal dominant inheritance, Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal sensory impairment, Dystrophic toenails, Gait disturbance, Hammertoe, Hyporeflexia, Mode of inheritance, Nail dystrophy, Onion bulb formation, Onset, Onset and clinical course, Osteomyelitis, Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet), Peripheral axonal atrophy, Peripheral axonal degeneration, Peripheral neuropathy, Pes cavus, Pes planus, Phenotypic abnormality, Reduced tendon reflexes, Sensory impairment, Sensory neuropathy, Steppage gait.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Rab7a | Rab7 | rab-7 | Sp-Rab7 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| RAB7A | RAB2A | 0.649045693 | RAB7A | RAB2A | cpx8 | no | yes | no | Known |
| RAB7A | RAB5A | 0.971368623 | RAB7A | RAB5A | cpx8 | no | yes | no | Known |
| RAB7A | RAB5B | 0.958793937 | RAB7A | RAB5B | cpx8 | no | yes | no | Known |
| RAB7A | RAB5C | 0.948574118 | RAB7A | RAB5C | cpx8 | no | yes | no | Known |
| RAB11B | RAB7A | 0.934832841 | RAB11B | RAB7A | cpx8 | no | yes | no | Known |
| RAB11A | RAB7A | 0.768901237 | RAB11A | RAB7A | cpx8 | no | yes | no | Known |
| GDI2 | RAB7A | 0.637271053 | GDI2 | RAB7A | cpx8 | no | yes | yes | Known |
| RAB1B | RAB7A | 0.982444343 | RAB1B | RAB7A | cpx8 | no | yes | no | Known |
| RAP1A | RAB7A | 0.157601697 | RAP1A | RAB7A | cpx8 | no | no | no | Novel |
| RAB10 | RAB7A | 0.773163823 | RAB10 | RAB7A | cpx8 | no | no | no | Novel |
| RAB1A | RAB7A | 0.983845779 | RAB1A | RAB7A | cpx8 | no | yes | no | Known |
| RAB7A | RAB8A | 0.886689305 | RAB7A | RAB8A | cpx8 | no | yes | no | Known |
| RAB7A | RAB8B | 0.905648803 | RAB7A | RAB8B | cpx8 | no | no | no | Novel |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| HNRNPA3 | RAB7A | 0.115065947 | HNRNPA3 | RAB7A |
| PDHA1 | RAB7A | 0.099546295 | PDHA1 | RAB7A |
| RAB7A | HSP90B1 | 0.070280015 | RAB7A | HSP90B1 |
| MSI2 | RAB7A | 0.084036769 | MSI2 | RAB7A |
| RAB7A | ATP5O | 0.071020388 | RAB7A | ATP5O |
| NUTF2 | RAB7A | 0.078976942 | NUTF2 | RAB7A |
| DHRS7B | RAB7A | 0.074713505 | DHRS7B | RAB7A |
| RAP1B | RAB7A | 0.172467035 | RAP1B | RAB7A |
| SDHB | RAB7A | 0.078724839 | SDHB | RAB7A |
| RAB7A | HSPA9 | 0.112535515 | RAB7A | HSPA9 |
| UBE2V1 | RAB7A | 0.076613557 | UBE2V1 | RAB7A |
| APRT | RAB7A | 0.141678682 | APRT | RAB7A |
| RAB7A | ARL8B | 0.114491094 | RAB7A | ARL8B |
| SLC25A3 | RAB7A | 0.07651133 | SLC25A3 | RAB7A |
| RAB7A | RHEB | 0.089433427 | RAB7A | RHEB |
| RAB7A | MECR | 0.081924449 | RAB7A | MECR |
| RAB7A | ANXA2 | 0.085928439 | RAB7A | ANXA2 |
| RAB7A | HNRNPK | 0.182492533 | RAB7A | HNRNPK |