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als2a alsin Rho guanine nucleotide exchange factor ALS2 a [ Danio rerio (zebrafish) ]

Gene ID: 557014, updated on 4-Jan-2025

Summary

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Official Symbol
als2aprovided by ZNC
Official Full Name
alsin Rho guanine nucleotide exchange factor ALS2 aprovided by ZNC
Primary source
ZFIN:ZDB-GENE-070402-2
See related
Ensembl:ENSDARG00000075111 AllianceGenome:ZFIN:ZDB-GENE-070402-2
Gene type
protein coding
RefSeq status
MODEL
Organism
Danio rerio
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as
als2; si:dkey-33m14.1
Summary
Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in endosomal transport. Predicted to act upstream of or within several processes, including axonogenesis; glutamatergic synaptic transmission; and neuromuscular junction development. Predicted to be located in several cellular components, including dendritic spine; early endosome; and postsynaptic density. Predicted to be active in several cellular components, including centrosome; dendrite; and intracellular membrane-bounded organelle. Is expressed in several structures, including gut; motor neurons; muscle; retinal neural layer; and spinal cord. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis and amyotrophic lateral sclerosis type 2. Orthologous to human ALS2 (alsin Rho guanine nucleotide exchange factor ALS2). [provided by Alliance of Genome Resources, Jan 2025]
Orthologs
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Genomic context

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See als2a in Genome Data Viewer
Location:
chromosome: 9
Exon count:
34
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCz11 (GCF_000002035.6) 9 NC_007120.7 (13628637..13677697)
105 previous assembly GRCz10 (GCF_000002035.5) 9 NC_007120.6 (13657457..13702031)

Chromosome 9 - NC_007120.7Genomic Context describing neighboring genes Neighboring gene transfer RNA glutamine (anticodon UUG) Neighboring gene transfer RNA glutamine (anticodon UUG) Neighboring gene MAGUK p55 scaffold protein 4a Neighboring gene transmembrane protein 237a

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • BioProject: PRJEB1986
  • Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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Related articles in PubMed

  1. Cross-species characterization of the ALS2 gene and analysis of its pattern of expression in development and adulthood. Devon RS, et al. Neurobiol Dis, 2005 Mar. PMID 15686953
  2. Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish. Gros-Louis F, et al. Hum Mol Genet, 2008 Sep 1. PMID 18558633
  3. ALS-associated genes display CNS expression in the developing zebrafish. Laboissonniere LA, et al. Gene Expr Patterns, 2018 Dec. PMID 30165106
  4. Phylogenetic and evolutionary relationships and developmental expression patterns of the zebrafish twist gene family. Yeo GH, et al. Dev Genes Evol, 2009 Jun. PMID 19565261
  5. RFX transcription factors are essential for hearing in mice. Elkon R, et al. Nat Commun, 2015 Oct 15. PMID 26469318, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. zAls2 knock-down zebrafish had severe developmental abnormalities, swimming deficits and motor neuron perturbation.
    Title: Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish.
Submit: New GeneRIF Correction

General gene information

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Homology

Gene Ontology Provided by ZFIN

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
  
enables guanyl-nucleotide exchange factor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables small GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables small GTPase binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in endosomal transport IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within endosomal transport ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within neuromuscular junction development ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within synaptic transmission, glutamatergic ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within vesicle organization ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in axon ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centrosome ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in dendrite IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in dendrite ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in dendritic spine ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in early endosome ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
alsin
Names
alsin 2
amyotrophic lateral sclerosis 2 (juvenile)
amyotrophic lateral sclerosis 2a (juvenile)

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz11 Primary Assembly

Genomic

  1. NC_007120.7 Reference GRCz11 Primary Assembly

    Range
    13628637..13677697
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_021478854.2 → XP_021334529.1  alsin

    UniProtKB/TrEMBL
    A0A8N7TEA8, F1QS60
    Related
    ENSDARP00000097741.4, ENSDART00000108844.4
    Conserved Domains (6) summary
    cd13269
    Location:907 → 1018
    PH_alsin; Alsin Pleckstrin homology (PH) domain
    pfam00415
    Location:529 → 576
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam02204
    Location:1559 → 1657
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam13540
    Location:563 → 592
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    cl27415
    Location:1058 → 1222
    COG4642; Uncharacterized conserved protein [Function unknown]
    cl27697
    Location:33 → 215
    RCC1; Regulator of chromosome condensation (RCC1) repeat

Reference GRCz11 ALT_DRER_TU_1

Genomic

  1. NW_018394743.1 Reference GRCz11 ALT_DRER_TU_1

    Range
    359170..408230
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_679972.9 → XP_685064.6  alsin

    UniProtKB/TrEMBL
    A0A8N7TEA8, F1QS60
    Conserved Domains (6) summary
    cd13269
    Location:907 → 1018
    PH_alsin; Alsin Pleckstrin homology (PH) domain
    pfam00415
    Location:529 → 576
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam02204
    Location:1559 → 1657
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam13540
    Location:563 → 592
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    cl27415
    Location:1058 → 1222
    COG4642; Uncharacterized conserved protein [Function unknown]
    cl27697
    Location:33 → 215
    RCC1; Regulator of chromosome condensation (RCC1) repeat
Nucleotide Protein Strain
Heading Accession and Version

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