QuickView for ALS2;jsessionid=596A65D96C541615272891EA17B4983B (gene)

Gene Symbol:

ALS2 Homo sapiens

Full name:

ALS2, alsin Rho guanine nucleotide exchange factor

Synonyms:

ALS2CR6, ALSJ, IAHSP, PLSJ, alsin, amyotrophic lateral sclerosis 2 (juvenile), amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein, amyotrophic lateral sclerosis 2 protein

Genomic Location:

Chr 2: 202273522-202353983

Description:

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 locali...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GTGTTGA_MIR505 ,  AGCYRWTTC_UNKNOWN ,  TGANTCA_AP1_C ,  TCANNTGAY_SREBP1_01 ,  CREBP1CJUN_01 ,  CREB_Q4_01 ,  TACTTGA_MIR26A_MIR26B ,  ACTTTAT_MIR1425P ,  CTTTGA_LEF1_Q2 ,  CREB_Q3 ,  TGAYRTCA_ATF3_Q6 ,  CAGGTA_AREB6_01 ,  SP1_Q4_01 ,  CREB_02 ,  GGGCGGR_SP1_Q6 ,  ATACTGT_MIR144 ,  NRF2_Q4 ,  TGACGTCA_ATF3_Q6 ,  AAAGGAT_MIR501 ,  CAGCTG_AP4_Q5 ,  GTTRYCATRR_UNKNOWN ,  CREB_01 ,  ACACTGG_MIR199A_MIR199B

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-142-5p ,  Predicted Gene Targets for miR-144 ,  Predicted Gene Targets for miR-199 ,  Predicted Gene Targets for miR-26 ,  Predicted Gene Targets for miR-505 ,  Predicted Gene Targets for miR-543

Cytogenetic Map:

2q33.1

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