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    ALS2 alsin Rho guanine nucleotide exchange factor ALS2 [ Homo sapiens (human) ]

    Gene ID: 57679, updated on 6-Jun-2024

    Summary

    Official Symbol
    ALS2provided by HGNC
    Official Full Name
    alsin Rho guanine nucleotide exchange factor ALS2provided by HGNC
    Primary source
    HGNC:HGNC:443
    See related
    Ensembl:ENSG00000003393 MIM:606352; AllianceGenome:HGNC:443
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ALSJ; PLSJ; IAHSP; ALS2CR6
    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]
    Expression
    Ubiquitous expression in heart (RPKM 4.3), brain (RPKM 3.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ALS2 in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (201700267..201780933, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (202180871..202263022, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (202564990..202645656, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12234 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12235 Neighboring gene enolase 1 pseudogene 4 Neighboring gene RNA, U6 small nuclear 651, pseudogene Neighboring gene MAGUK p55 scaffold protein 4 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:202563997-202564498 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:202564499-202564998 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16994 Neighboring gene ribosomal protein S2 pseudogene 16 Neighboring gene MPRA-validated peak4013 silencer Neighboring gene cyclin dependent kinase 15 Neighboring gene UBE2V1 pseudogene 11 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:202766463-202767186 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12237 Neighboring gene RNA, U6 small nuclear 440, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ31851, KIAA1563, MGC87187

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine/threonine kinase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables small GTPase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables small GTPase binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in behavioral fear response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endosomal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endosome organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within lysosomal transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neuromuscular junction development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron projection morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of Rac protein signal transduction IC
    Inferred by Curator
    more info
    PubMed 
    involved_in positive regulation of protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in receptor recycling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of endosome size IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synaptic transmission, glutamatergic IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendritic spine IEA
    Inferred from Electronic Annotation
    more info
     
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in growth cone 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 lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ruffle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    alsin
    Names
    ALS2, alsin Rho guanine nucleotide exchange factor
    amyotrophic lateral sclerosis 2 (juvenile)
    amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein
    amyotrophic lateral sclerosis 2 protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008775.1 RefSeqGene

      Range
      5240..85906
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_654

    mRNA and Protein(s)

    1. NM_001135745.2NP_001129217.1  alsin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an internal polyA site resulting in a substantially shorter transcript with a unique 3' coding region, compared to variant 1. The encoded isoform (2), also known as the short form, is substantially shorter and has a unique C-terminus, compared to isoform 1.
      Source sequence(s)
      AB053306, AC007279, AK023024, BU623061
      Consensus CDS
      CCDS46492.1
      UniProtKB/TrEMBL
      A0A7P0TBB0
      Related
      ENSP00000429223.1, ENST00000467448.5
      Conserved Domains (2) summary
      pfam00415
      Location:170216
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam13540
      Location:93122
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    2. NM_001410975.1NP_001397904.1  alsin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC007242, AC007279
      Consensus CDS
      CCDS92925.1
      UniProtKB/TrEMBL
      A0A2X0SFA0, A0A7P0T8F3
      Related
      ENSP00000505071.1, ENST00000681619.1
    3. NM_020919.4NP_065970.2  alsin isoform 1

      See identical proteins and their annotated locations for NP_065970.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1), also known as the LF or long form.
      Source sequence(s)
      AF391100, AK291029, BM978733
      Consensus CDS
      CCDS42800.1
      UniProtKB/Swiss-Prot
      Q53TT1, Q53TV2, Q8N1E0, Q96PC4, Q96Q41, Q96Q42, Q9H973, Q9HCK9
      UniProtKB/TrEMBL
      A0A2X0SFA0
      Related
      ENSP00000264276.6, ENST00000264276.11
      Conserved Domains (8) summary
      COG4642
      Location:10491188
      COG4642; Uncharacterized conserved protein [Function unknown]
      cd13269
      Location:9051010
      PH_alsin; Alsin Pleckstrin homology (PH) domain
      pfam00169
      Location:9261004
      PH; PH domain
      pfam00415
      Location:527574
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam02204
      Location:15541653
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
      pfam02493
      Location:11001120
      MORN; MORN repeat
      pfam13540
      Location:93122
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
      cl02571
      Location:695879
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      201700267..201780933 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006712654.4XP_006712717.1  alsin isoform X1

      See identical proteins and their annotated locations for XP_006712717.1

      UniProtKB/Swiss-Prot
      Q53TT1, Q53TV2, Q8N1E0, Q96PC4, Q96Q41, Q96Q42, Q9H973, Q9HCK9
      UniProtKB/TrEMBL
      A0A2X0SFA0
      Conserved Domains (8) summary
      COG4642
      Location:10491188
      COG4642; Uncharacterized conserved protein [Function unknown]
      cd13269
      Location:9051010
      PH_alsin; Alsin Pleckstrin homology (PH) domain
      pfam00169
      Location:9261004
      PH; PH domain
      pfam00415
      Location:527574
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam02204
      Location:15541653
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
      pfam02493
      Location:11001120
      MORN; MORN repeat
      pfam13540
      Location:93122
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
      cl02571
      Location:695879
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    2. XM_047445224.1XP_047301180.1  alsin isoform X2

      UniProtKB/TrEMBL
      A0A2X0SFA0
    3. XM_006712655.4XP_006712718.1  alsin isoform X6

      UniProtKB/TrEMBL
      A0A7P0T993
      Conserved Domains (6) summary
      COG4642
      Location:361500
      COG4642; Uncharacterized conserved protein [Function unknown]
      cd13269
      Location:217322
      PH_alsin; Alsin Pleckstrin homology (PH) domain
      pfam00169
      Location:238316
      PH; PH domain
      pfam02204
      Location:866965
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
      pfam02493
      Location:412432
      MORN; MORN repeat
      cl02571
      Location:7191
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    4. XM_017004572.3XP_016860061.1  alsin isoform X7

      UniProtKB/TrEMBL
      A0A7P0T993
      Related
      ENSP00000505568.1, ENST00000681558.1
    5. XM_047445238.1XP_047301194.1  alsin isoform X4

      UniProtKB/TrEMBL
      A0A7P0T951
    6. XM_017004570.3XP_016860059.1  alsin isoform X3

      UniProtKB/TrEMBL
      A0A7P0T951
      Related
      ENSP00000505473.1, ENST00000680927.1
      Conserved Domains (7) summary
      COG4642
      Location:10491188
      COG4642; Uncharacterized conserved protein [Function unknown]
      cd13269
      Location:9051010
      PH_alsin; Alsin Pleckstrin homology (PH) domain
      pfam00169
      Location:9261004
      PH; PH domain
      pfam00415
      Location:527574
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam02493
      Location:11001120
      MORN; MORN repeat
      pfam13540
      Location:93122
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
      cl02571
      Location:695879
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    7. XM_047445241.1XP_047301197.1  alsin isoform X5

      UniProtKB/TrEMBL
      A0A7P0T958, A0A7P0Z4I4
      Related
      ENSP00000506172.1, ENST00000679916.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      202180871..202263022 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343204.1XP_054199179.1  alsin isoform X1

      UniProtKB/TrEMBL
      A0A2X0SFA0
    2. XM_054343206.1XP_054199181.1  alsin isoform X8

      UniProtKB/TrEMBL
      A0A2X0SFA0
    3. XM_054343202.1XP_054199177.1  alsin isoform X1

      UniProtKB/TrEMBL
      A0A2X0SFA0
    4. XM_054343203.1XP_054199178.1  alsin isoform X1

      UniProtKB/TrEMBL
      A0A2X0SFA0
    5. XM_054343207.1XP_054199182.1  alsin isoform X8

      UniProtKB/TrEMBL
      A0A2X0SFA0
    6. XM_054343205.1XP_054199180.1  alsin isoform X1

      UniProtKB/TrEMBL
      A0A2X0SFA0
    7. XM_054343208.1XP_054199183.1  alsin isoform X2

      UniProtKB/TrEMBL
      A0A2X0SFA0
    8. XM_054343212.1XP_054199187.1  alsin isoform X6

      UniProtKB/TrEMBL
      A0A7P0T993
    9. XM_054343213.1XP_054199188.1  alsin isoform X7

      UniProtKB/TrEMBL
      A0A7P0T993
    10. XM_054343209.1XP_054199184.1  alsin isoform X3

      UniProtKB/TrEMBL
      A0A7P0T951
    11. XM_054343210.1XP_054199185.1  alsin isoform X4

      UniProtKB/TrEMBL
      A0A7P0T951
    12. XM_054343211.1XP_054199186.1  alsin isoform X5

      UniProtKB/TrEMBL
      A0A7P0T958