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FLASH GENE
Symbol CLN6 contributors: mct - updated : 12-03-2007
HGNC name ceroid-lipofuscinosis, neuronal 6, late infantile, variant
HGNC id 2077
Corresponding disease
CLN6 ceroid-lipofuscinosis, neuronal, 6
KUFS Kufs type A disease
Location 15q23      Physical location : 68.499.330 - 68.522.080
Synonym name linclin
Synonym symbol(s) FLJ20561, HsT18960
DNA
TYPE functioning gene
STRUCTURE 22.00 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status provisional
Map cen - D15S1020 - [CLN6 CLN6 ] - D15S1000 - qter
Authors Auger-Sharp
RNA
TRANSCRIPTS type messenger
text four putative isoforms (3.7, 1.1 and 5.9 Kb)
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine  highly
Reproductivefemale systemuteruscervix highly
Respiratoryrespiratory tractlarynx  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow   
Nervouscentral   
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
not specificfibroblast
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text brain
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • putative mitochondrial presequence
  • seven transmembrane domains
  • HOMOLOGY
    interspecies ortholog to murine Cln6
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text reside in the endoplasmic reticulum (Cannelli 2009)
    basic FUNCTION
  • ER resident protein, that may contribute to lysosomal function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CLN3, CLN5, and CLN8 complement each other with respect to growth and apoptosis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CLN6 , KUFS
    related resource Neuronal Ceroid Lipofuscinoses NCL Mutations
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • nclf,a spontaneous mouse mutation causing recessive NCL-like disease
  • NCL in two large animals models: the south Hampshire sheep and the Merino sheep