ZFIN ID: ZDB-GENE-040426-2539
Gene Name: charged multivesicular body protein 2Bb
Gene Symbol: chmp2bb    Nomenclature History

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Previous Names: chmp2bl, zgc:77025

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 1 Mapping Details/Browsers
Description: Predicted to be involved in endosome transport via multivesicular body sorting pathway; late endosome to vacuole transport; and protein transport. Predicted to localize to ESCRT III complex and multivesicular body. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 17; chromosome 3-linked frontotemporal dementia; and frontotemporal dementia. Orthologous to human CHMP2B (charged multivesicular body protein 2B).
Genome Resources: Alliance (1),  Gene:405840 (1),  Ensembl(GRCz11):ENSDARG00000002190 (2)
GENE EXPRESSION
High Throughput Expression: GEO (1) , Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa13040 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • zko628a Insertion Unknown Unknown CRISPR
  • China Zebrafish Resource Center (CZRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    CRISPR1-chmp2bb 1
    PHENOTYPE No data available
    DISEASE ASSOCIATED WITH chmp2bb HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    amyotrophic lateral sclerosis type 17 Alliance Amyotrophic lateral sclerosis 17 614696
    chromosome 3-linked frontotemporal dementia Alliance Dementia, familial, nonspecific 600795
    DISEASE ASSOCIATED WITH chmp2bb VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process protein transport (more)
    Cellular Component cytoplasm (more)
    GO Terms (all 11)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA chmp2bb-201 (1)    Ensembl 1986
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM chmp2bb No data available
    MARKER RELATIONSHIPS
    chmp2bb Contained in: [BAC] DKEYP-8H3 (1)
    chmp2bb Contains: [STS] chunp30207 (1)
    chmp2bb Encodes: [cDNA] MGC:77025 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_212904 (1) 1954 nt
    Genomic GenBank:CR762462 (1) 186636 nt
    Select Tool
    Polypeptide UniProtKB:Q6NXD2 (1) 214 aa
    Sequence Information (all 11)
    ORTHOLOGY for chmp2bb ( Chr: 1 )
    CITATIONS (26)