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FLASH GENE
Symbol ISLR contributors: - updated : 20-08-2007
HGNC name immunoglobulin superfamily containing leucine-rich repeat
HGNC id 6133
Corresponding disease
BBS4 Bardet-Biedl syndrome 4
Location 15q23-q24      Physical location : 74.466.086 - 74.469.212
DNA
TYPE anonymous DNA segment
STRUCTURE 3.00 kb     2 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence
MAPPING cloned Y linked   status confirmed
Map cen - D15S216 - [D15S131 - ISLR - D15S114 ] - qter
Authors Nagasawa (99)
Text [BBS4 ]
regionally located located in the critical region of BBS4
RNA
TRANSCRIPTS type messenger
text with two alternatively spliced identical isoforms
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine  highly
Lymphoid/Immunespleen   highly
Reproductivefemale systemovary  highly
 female systemuterus  highly
Visualeyeretina   
cells
SystemCellPubmedSpeciesStageRna symbol
Visualcone photoreceptor
Visualganglion cell
Visualrod photoreceptor
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a leucine-rich repeat, with conserved flanking sequences
  • an immunoglobulin Ig-like
  • a transmembrane domains
  • HOMOLOGY
    Homologene
    FAMILY immunoglobulin superfamily (containing a leucine rich repeat)
    CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION involved in cell adhesion
    CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BBS4
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS