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FLASH GENE
Symbol B9D2 contributors: mct - updated : 25-10-2011
HGNC name B9 protein domain 2
HGNC id 28636
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineneuroendocrinepituitary  highly
 parathyroid   highly
Respiratoryrespiratory tractlarynx  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • presence of a B9 domain, occuring exclusively within a family of three proteins distributed widely in ciliated organisms
  • HOMOLOGY
    interspecies homolog to murine Stumpy
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus
    text
  • localize to transition zones/basal bodies of sensory cilia
  • basic FUNCTION
  • associated with ciliated cells and potentially related to cilia stability
  • playing a critical role for the proper elongation of cilia
  • function redundantly with the nephrocystins to regulate the formation and/or maintenance of cilia and dendrites in the amphid and phasmid ciliated sensory neurons
  • having a role in basal body anchoring and establishing a ciliary gate during ciliogenesis
  • Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos
  • B9D2, INVS, and IQCB1 support the transport of a cargo protein, Opsin, but not another photoreceptor ciliary transmembrane protein, Peripherin (PHPN)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • B9D1 and B9D2 are essential components of a B9 protein complex, disrupted in Meckel syndrome
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (B9D1, B9D2) proteins
  • B9D2, INVS, and IQCB1 support the transport of a cargo protein, Opsin, but not another photoreceptor ciliary transmembrane protein, PRPH
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MKS10
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    during mucociliary differentiation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS