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

    Gene ID: 57679, updated on 10-Dec-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
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    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (201700267..201780933, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (202180871..202263022, complement)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ31851, KIAA1563, MGC87187

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in behavioral fear response  
    involved_in endosomal transport  
    involved_in endosome organization PubMed 
    involved_in locomotory behavior  
    acts_upstream_of_or_within lysosomal transport PubMed 
    involved_in neuromuscular junction development  
    involved_in neuron projection morphogenesis PubMed 
    involved_in positive regulation of GTPase activity PubMed 
    involved_in positive regulation of Rac protein signal transduction PubMed 
    involved_in positive regulation of protein kinase activity PubMed 
    acts_upstream_of_or_within protein homooligomerization PubMed 
    involved_in protein localization  
    involved_in receptor recycling  
    involved_in regulation of endosome size PubMed 
    involved_in regulation of postsynaptic membrane neurotransmitter receptor levels  
    involved_in response to oxidative stress  
    involved_in synaptic transmission, glutamatergic  
    Component Evidence Code Pubs
    is_active_in centrosome  
    located_in centrosome PubMed 
    is_active_in cytoplasm  
    located_in cytosol PubMed 
    located_in cytosol  
    is_active_in dendrite  
    located_in dendrite PubMed 
    located_in dendritic spine  
    located_in early endosome PubMed 
    located_in glutamatergic synapse  
    located_in growth cone  
    is_active_in intracellular membrane-bounded organelle  
    located_in lamellipodium  
    located_in nucleus PubMed 
    located_in postsynaptic density  
    part_of protein-containing complex PubMed 
    located_in ruffle  
    located_in vesicle 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_001135745.2 → NP_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:170 → 216
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam13540
      Location:93 → 122
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    2. NM_001410975.1 → NP_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_020919.4 → NP_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:1049 → 1188
      COG4642; Uncharacterized conserved protein [Function unknown]
      cd13269
      Location:905 → 1010
      PH_alsin; Alsin Pleckstrin homology (PH) domain
      pfam00169
      Location:926 → 1004
      PH; PH domain
      pfam00415
      Location:527 → 574
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam02204
      Location:1554 → 1653
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
      pfam02493
      Location:1100 → 1120
      MORN; MORN repeat
      pfam13540
      Location:93 → 122
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
      cl02571
      Location:695 → 879
      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_2024_08

    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_006712654.4 → XP_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:1049 → 1188
      COG4642; Uncharacterized conserved protein [Function unknown]
      cd13269
      Location:905 → 1010
      PH_alsin; Alsin Pleckstrin homology (PH) domain
      pfam00169
      Location:926 → 1004
      PH; PH domain
      pfam00415
      Location:527 → 574
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam02204
      Location:1554 → 1653
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
      pfam02493
      Location:1100 → 1120
      MORN; MORN repeat
      pfam13540
      Location:93 → 122
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
      cl02571
      Location:695 → 879
      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_047445224.1 → XP_047301180.1  alsin isoform X2

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

      UniProtKB/TrEMBL
      A0A7P0T993
      Conserved Domains (6) summary
      COG4642
      Location:361 → 500
      COG4642; Uncharacterized conserved protein [Function unknown]
      cd13269
      Location:217 → 322
      PH_alsin; Alsin Pleckstrin homology (PH) domain
      pfam00169
      Location:238 → 316
      PH; PH domain
      pfam02204
      Location:866 → 965
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
      pfam02493
      Location:412 → 432
      MORN; MORN repeat
      cl02571
      Location:7 → 191
      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_017004572.3 → XP_016860061.1  alsin isoform X7

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

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

      UniProtKB/TrEMBL
      A0A7P0T951
      Related
      ENSP00000505473.1, ENST00000680927.1
      Conserved Domains (7) summary
      COG4642
      Location:1049 → 1188
      COG4642; Uncharacterized conserved protein [Function unknown]
      cd13269
      Location:905 → 1010
      PH_alsin; Alsin Pleckstrin homology (PH) domain
      pfam00169
      Location:926 → 1004
      PH; PH domain
      pfam00415
      Location:527 → 574
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam02493
      Location:1100 → 1120
      MORN; MORN repeat
      pfam13540
      Location:93 → 122
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
      cl02571
      Location:695 → 879
      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_047445241.1 → XP_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_054343204.1 → XP_054199179.1  alsin isoform X1

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

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

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

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

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

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

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

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

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

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

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

      UniProtKB/TrEMBL
      A0A7P0T958
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