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    Bloc1s2 biogenesis of lysosomal organelles complex-1, subunit 2 [ Mus musculus (house mouse) ]

    Gene ID: 73689, updated on 27-Nov-2024

    Summary

    Official Symbol
    Bloc1s2provided by MGI
    Official Full Name
    biogenesis of lysosomal organelles complex-1, subunit 2provided by MGI
    Primary source
    MGI:MGI:1920939
    See related
    Ensembl:ENSMUSG00000057506 AllianceGenome:MGI:1920939
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    BLOS2; Bloc1s2a; 2410089B13Rik
    Summary
    Predicted to enable gamma-tubulin binding activity. Involved in anterograde synaptic vesicle transport. Located in cytosol. Part of BLOC-1 complex. Is expressed in several structures, including aorta-gonad-mesonephros; brain; genitourinary system; gut; and spleen. Orthologous to human BLOC1S2 (biogenesis of lysosomal organelles complex 1 subunit 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 23.1), CNS E14 (RPKM 20.9) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Bloc1s2 in Genome Data Viewer
    Location:
    19 C3; 19 36.72 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (44127685..44134909, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (44139246..44146470, complement)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene CWF19 like cell cycle control factor 1 Neighboring gene predicted gene, 24336 Neighboring gene predicted gene, 52383 Neighboring gene STARR-seq mESC enhancer starr_46220 Neighboring gene polycystic kidney disease 2-like 1 Neighboring gene stearoyl-coenzyme A desaturase 3 Neighboring gene STARR-seq mESC enhancer starr_46221 Neighboring gene STARR-seq mESC enhancer starr_46222 Neighboring gene stearoyl-coenzyme A desaturase pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables gamma-tubulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables gamma-tubulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables gamma-tubulin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in anterograde axonal transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in anterograde synaptic vesicle transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endosomal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in extrinsic apoptotic signaling pathway via death domain receptors ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in extrinsic apoptotic signaling pathway via death domain receptors ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in lysosome localization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in lysosome localization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in lysosome localization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lysosome localization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in melanosome organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in mitochondrial outer membrane permeabilization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mitochondrial outer membrane permeabilization ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in neuron projection development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in organelle transport along microtubule NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of endosome size NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of lysosome size NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of BLOC-1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of BLOC-1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of BLOC-1 complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of BLOC-1 complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of BORC complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of BORC complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasmic side of lysosomal membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of gamma-tubulin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of gamma-tubulin complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of gamma-tubulin complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in recycling endosome ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    biogenesis of lysosome-related organelles complex 1 subunit 2
    Names
    BLOC-1 subunit 2
    biogenesis of lysosome-related organelles complex-1, subunit 2A

    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.

    mRNA and Protein(s)

    1. NM_028607.1NP_082883.1  biogenesis of lysosome-related organelles complex 1 subunit 2

      Status: VALIDATED

      Source sequence(s)
      AC125101, AK010745, BX513460
      Consensus CDS
      CCDS50445.1
      UniProtKB/Swiss-Prot
      A2ATZ7, Q6P062, Q9CWG9
      Related
      ENSMUSP00000078042.5, ENSMUST00000079033.6
      Conserved Domains (1) summary
      pfam10046
      Location:44138
      BLOC1_2; Biogenesis of lysosome-related organelles complex-1 subunit 2

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000085.7 Reference GRCm39 C57BL/6J

      Range
      44127685..44134909 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011247369.2XP_011245671.1  biogenesis of lysosome-related organelles complex 1 subunit 2 isoform X1

      Conserved Domains (1) summary
      pfam10046
      Location:43135
      BLOC1_2; Biogenesis of lysosome-related organelles complex-1 subunit 2