Gene Name | ALS2 |
|
Specie | Homo sapiens | |
Full Name | alsin Rho guanine nucleotide exchange factor ALS2 | |
Also known as | ALS2CR6|ALSJ|IAHSP|PLSJ | |
Coordinate | chr2:201700267-201781153 | |
Strand | - | |
Gene summary | The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] |
Retroname | Coord | Strand | Genomic Region | ENSG | |
---|---|---|---|---|---|
ALS2P1 | chr18:28824652-28824862 | - |
Intergenic |
ENSG00000271238 | UCSC |
>NM_001135745.2 |
ACTGGGTTGCCAAGCTCGCGCCGGATGCGGAGCGCGGTGCTGCCGGTGGAGCTTCAGGTCTTGATAGACTTTCTGTAAAGAAGGAATGATTTGGTGATGGAGTGTTCCCACTGACCGATGGACTCAAAGAAGAGAAGCTCAACAGAGGCAGAAGGATCCAAGGAAAGAGGCCTGGTCCATATCTGGCAGGCAGGATCCTTTCCCATAACACCAGAGAGATTGCCAGGCTGGGGAGGAAAGACTGTTTTGCAGGCAGCCCTCGGAGTGAAACATGGAGTTCTTCTGACTGAAGATGGTGAGGTCTACAGCTTTGGGACTCTTCCCTGGAGAAGTGGACCAGTGGAGATTTGTCCAAGTAGCCCCATTCTAGAAAATGCCCTGGTTGGGCAATATGTTATTACTGTGGCAACAGGAAGCTTCCATAGTGGAGCAGTGACAGACAATGGTGTCGCGTACATGTGGGGAGAGAATTCTGCTGGCCAGTGTGCAGTAGCCAACCAGCAGTATGTGCCGGAACCAAATCCTGTCAGCATTGCTGATTCTGAGGCCAGCCCTTTGTTAGCAGTCAGGATTTTACAGTTGGCGTGTGGCGAGGAGCACACTCTGGCATTGTCAATAAGCAGAGAGATTTGGGCATGGGGTACCGGTTGTCAGTTGGGTCTCATTACCACTGCCTTCCCAGTGACAAAGCCGCAAAAGGTAGAACATCTTGCTGGGCGAGTGGTGCTTCAAGTTGCCTGTGGTGCTTTCCACAGCTTAGCCCTTGTACAATGCCTCCCTTCCCAGGATCTGAAGCCAGTCCCAGAACGATGCAACCAGTGCAGCCAGCTCTTGATTACTATGACTGACAAAGAAGACCATGTGATTATATCAGACAGTCATTGTTGCCCATTAGGTGTGACACTGACAGAATCTCAGGCAGAAAACCATGCCAGCACTGCTCTCAGCCCCTCCACTGAAACCCTTGACAGGCAGGAAGAAGTATTTGAGAACACTCTTGTAGCAAATGATCAGTCTGTTGCTACTGAACTGAATGCAGTAAGTGCTCAGATCACAAGCAGCGATGCCATGTCCTCTCAACAAAATGTCATGGGAACAACTGAAATTTCCTCTGCCAGAAACATACCATCATACCCTGACACCCAAGCAGTCAATGAATACCTACGGAAACTGTCAGATCATTCAGTAAGAGAGGACTCAGAGCATGGTGAAAAGCCAGTGCCATCTCAGGTACCTGCTCAATTTTATAAAATAAAAGTGTGTCTAGAGTTGAACTGTATGGGCTTTTCTTTAGAAACTTTAAAATGAGTAAGGCTTGGTAGCATTTTTTATTTTTTGAGTTTGATTATAATTTTGTTTTATCAGGCAAGCCTAGATAAAGGAAAGAACCTGGATTAATTCAAAATCACTCTTTATGTTTGTTCTGGCCCTTTATGATATTGAAAGGTGTCATGTTGGGCTTGTTTTATAAGTAGGAGCATTTCATTTTTTTTTCTTGCTAGTACTTTTTTTCTATGGCTAAAGTACTGAATTTTGGTGGGCCCTGAATAGTTTAATATAACTAGAGATTCACAAAGATTCTTCTTACTTGTGTTTGTAACACTCTTCAGAATTCTGTAGAGAAAAGTCTTTTCCTTCTTTAACAGGGAAGATTGTTTTGTGGCAGATCCTTCAATTGTAGGCAGATTTAAAACTTACAGGCAATTACATGTTTCAGTTTTTTTCAATTATAGCTGTGGTCCTTACTGGGCTTAATTTGAAGAGGTGGCTAATAttttatctttttgtttgtttgtttttgagatggggtcttgctctgtcacccaggctggagtgcagtaatgcgattgtggctcactgcagcctcgatctcccaggttcaagcgatcctcccatttcagccttccaagtagctgggactatacacatgccaccacacctgctgattttatttttaagtagagtagagcctgttgcccaggctcatctcaaactcctgagctcaagcaatcctcccacctcagcctcccaaagtgttgagattacaggcatgagccatcatgcccagccTATTTTATATATCTTATTAAAACTATTTTCATTTTGAAGATTTGTGGTAGAATGAACAAAAGTTGTTTATCAGTAGCACATGGTAAAGTTTGAGTTCCCGCTTAAACTAAATTGTTTTAAAAGGATTATTTCTGTGTTTTACTCTTAGTGTGGCCTTTTGATTTTGCTTTACCAAAACTGTAAGAAAACAAAACAAAAGATCATACTCATAAAAGATCTGTCCTGCAGTGTTTCTTTTTAGGTTTTTGAAACCACATAGCCTCTTGATTCTCAATTCTTATTGTTTACTCTGTCAGAATGTGAACATGAAGGTATTTTTAGAAATAGTCTTTATTTCACAATCTATTCACTGAAACTTGTGGGTATTTGAATTTTTAAAAAAATCAAGGATAAGCTGTTTGGAGAAAGGTATTATAAAGTCTGAACAAAGCAAAAGTAGTAGTTTAACAAGAATGCATGTAGAAAATTCTTAGACTGTACATGCTTATCACATTTTACTTACTTTGTTAAACATTGGAAGTTTTTGTTACTTATGCTAGTAACAATGTGTGTGTTTCTattgaattaaatttaatttatttaaattaaa |