CHMP4B

charged multivesicular body protein 4B

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000101421
UniProt:
Q9H444
OMIM:
610897
Synonyms:
C20ORF178, DJ553F4.4, SHAX1, SNF7-2, VPS32B

Cilia effects upon perturbation of CHMP4B

Cilia number / % ciliated:
Decreased cilia number

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-8.15) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680

Phenotypes

Human ciliopathy phenotype:
Posterior polar cataract; early-onset non-syndromic cataract

Subcellular localization

cilia, cytosol, nucleus

References: PMID:31914703

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Viral interactions
  • Protein processing & maturation

Function

Subunit of the endosomal sorting complexes required for transport (ESCRT). Localized to primary cilia in mammalian cells. Knockdown of CHMP4B interfered with cilium assembly and also caused fragmentation of preexisting cilia. Morpholino (MO)-mediated CHMP4B depletion in zebrafish embryos induced characteristic phenotypes of ciliary defects such as curved body axis, hydrocephalus, otolith malformation, and kidney cyst (31914703)