ALS2
alsin Rho guanine nucleotide exchange factor ALS2 | ALS2CR6

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]

Member of: DE-2
Biological processes 45 terms
GTPase activator activity (GO:0005096)centrosome (GO:0005813)centrosome (GO:0005813)centrosome (GO:0005813)cytoplasm (GO:0005737)cytoplasm (GO:0005737)cytosol (GO:0005829)cytosol (GO:0005829)dendrite (GO:0030425)dendrite (GO:0030425)dendrite (GO:0030425)dendritic spine (GO:0043197)early endosome (GO:0005769)endosomal transport (GO:0016197)endosome organization (GO:0007032)glutamatergic synapse (GO:0098978)growth cone (GO:0030426)guanyl-nucleotide exchange factor activity (GO:0005085)guanyl-nucleotide exchange factor activity (GO:0005085)guanyl-nucleotide exchange factor activity (GO:0005085)guanyl-nucleotide exchange factor activity (GO:0005085)identical protein binding (GO:0042802)intracellular membrane-bounded organelle (GO:0043231)lamellipodium (GO:0030027)lamellipodium (GO:0030027)lysosomal transport (GO:0007041)neuron projection morphogenesis (GO:0048812)nucleus (GO:0005634)positive regulation of GTPase activity (GO:0043547)positive regulation of Rac protein signal transduction (GO:0035022)positive regulation of protein kinase activity (GO:0045860)postsynaptic density (GO:0014069)protein binding (GO:0005515)protein homodimerization activity (GO:0042803)protein homooligomerization (GO:0051260)protein serine/threonine kinase activator activity (GO:0043539)protein-containing complex (GO:0032991)regulation of endosome size (GO:0051036)regulation of postsynaptic membrane neurotransmitter receptor levels (GO:0099072)ruffle (GO:0001726)ruffle (GO:0001726)small GTPase binding (GO:0031267)small GTPase binding (GO:0031267)small GTPase binding (GO:0031267)vesicle (GO:0031982)
Expression (TPM)
ALS2 — as a Regulated Gene

TFs regulating ALS2 0 TFs

Transcription factors with Perturb-seq knockdown data for ALS2. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = ALS2 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to ALS2

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of ALS2, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Accessibility Element Dist. to TSS Link type TFs
chr2:201,642,360–201,643,621 138.4 kb Distal (>10kb) Multiome 884
chr2:201,780,355–201,781,686 155 bp At TSS Multiome 963
chr2:201,787,334–201,788,076 6.5 kb Proximal (<10kb) Multiome 227
chr2:201,858,878–201,859,345 77.9 kb Distal (>10kb) Multiome 246
chr2:201,860,619–201,861,352 79.8 kb Distal (>10kb) Multiome 253
chr2:201,866,586–201,867,010 85.7 kb Distal (>10kb) Multiome 139
chr2:201,906,909–201,907,931 126.2 kb Distal (>10kb) Multiome 255
chr2:201,929,476–201,930,044 148.7 kb Distal (>10kb) Multiome 78
chr2:201,932,304–201,933,049 151.5 kb Distal (>10kb) Multiome 131
chr2:201,948,994–201,950,276 168.4 kb Distal (>10kb) Multiome 334
chr2:201,972,639–201,973,266 191.8 kb Distal (>10kb) Multiome 195
chr2:202,019,731–202,020,536 239.0 kb Distal (>10kb) Multiome HiCAR 118
chr2:202,023,052–202,024,286 242.4 kb Distal (>10kb) Multiome HiCAR 272
chr2:202,032,848–202,036,232 252.6 kb Distal (>10kb) Multiome 769
chr2:202,038,976–202,040,047 258.6 kb Distal (>10kb) Multiome HiCAR 233
chr2:202,163,899–202,164,942 383.4 kb Distal (>10kb) Multiome HiCAR 79

Genome Browser

Genomic view of the ALS2 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.

chr2:201,632,360 – 202,174,942
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq
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