Gene

chmp4bb

ID
ZDB-GENE-040426-2812
Name
charged multivesicular body protein 4Bb
Symbol
chmp4bb Nomenclature History
Previous Names
  • chmp4b
  • c20orf178 (1)
  • wu:fc96b02
  • zgc:55566
Type
protein_coding_gene
Location
Chr: 8 Mapping Details/Browsers
Description
Involved in cilium assembly. Predicted to be located in cytosol and late endosome membrane. Predicted to be part of ESCRT III complex. Predicted to be active in cytoplasmic side of plasma membrane and multivesicular body. Human ortholog(s) of this gene implicated in cataract 31 multiple types. Orthologous to human CHMP4B (charged multivesicular body protein 4B).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
7 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
sa21371Allele with one point mutationUnknownPremature StopENU
1 - 1 of 1
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
MO1-chmp4bbN/AJung et al., 2020
MO2-chmp4bbN/AAdar-Levor et al., 2021
MO3-chmp4bbN/A (2)
1 - 3 of 3
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Human Disease
Associated With chmp4bb Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
cataract 31 multiple types Alliance Cataract 31, multiple types 605387
1 - 1 of 1
Associated With chmp4bb Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR005024 Snf7 family
1 - 1 of 1
Domain Details Per Protein
Protein Additional Resources Length Snf7 family
UniProtKB:Q6IQ73 InterPro 224
UniProtKB:B2GRA4 InterPro 224
1 - 2 of 2
Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 8
Type Name Annotation Method Has Havana Data Length (nt) Analysis
aberrant processed transcript chmp4bb-202 (1) Ensembl 947 nt
mRNA chmp4bb-201 (1) Ensembl 1,743 nt
1 - 2 of 2
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
1 - 6 of 6
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanCHMP4B20
Amino acid sequence comparison (1)
Conserved genome location (synteny) (1)
Phylogenetic tree (1)
MouseChmp4b2
Phylogenetic tree (1)
Amino acid sequence comparison (1)
Citations
1 - 9 of 9
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