Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
Physical map
MGC4562 15q22.2 hypothetical protein MGC4562 FLJ20516 15q22.2 timeless-interacting protein MAP2K1 15q22.1-q22.33 mitogen-activated protein kinase kinase 1 LOC388128 15 similar to ribosomal protein L9; 60S ribosomal protein L9 SNAPC5 15q22.2 small nuclear RNA activating complex, polypeptide 5, 19kDa RPL4 15q22 ribosomal protein L4 FLJ10036 15q22.2 hypothetical protein FLJ10036 MADH6 15q21-q22 MAD, mothers against decapentaplegic homolog 6 (Drosophila) LOC390597 15 similar to leucine zipper-EF-hand containing transmembrane protein 1 MADH3 15q21-q22 MAD, mothers against decapentaplegic homolog 3 (Drosophila) DKFZP586N0721 15q22.31 DKFZP586N0721 protein FLJ11506 15q22.31 hypothetical protein FLJ11506 FLJ12476 15q22.31 hypothetical protein FLJ12476 LOC145853 15q22.31 similar to ENSANGP00000021391 MAP2K5 15q22.2-q22.31 mitogen-activated protein kinase kinase 5 LOC390598 15 similar to RIKEN cDNA C230094B15 LOC388129 15 hypothetical gene supported by BC033162 LOC390599 15 similar to 40S ribosomal protein S15a PIAS1 15q21.3-q22.1 protein inhibitor of activated STAT, 1 MGC4809 15q22.2 serologically defined breast cancer antigen NY-BR-20 CLN6 15q23 ceroid-lipofuscinosis, neuronal 6, late infantile, variant FEM1B 15q22 fem-1 homolog b (C. elegans) ITGA11 15q22.3-q23 integrin, alpha 11 CORO2B 15q22-q23 coronin, actin binding protein, 2B ANP32A 15q22-q23 acidic (leucine-rich) nuclear phosphoprotein 32 family, member A FLJ11722 15q22.31 hypothetical protein FLJ11722 LOC390600 15 similar to RIKEN cDNA 2810413N20 NOX5 15q22.31 NADPH oxidase, EF hand calcium-binding domain 5 SPESP1 15q22.31 sperm equatorial segment protein 1 FLJ33768 15q22.31 hypothetical protein FLJ33768 GLCE 15q22.31 glucuronyl C5-epimerase MPRG 15q22.31 glucuronyl C5-epimerase KIF23 15q22-q23 kinesin family member 23 RPLP1 15q22 ribosomal protein, large, P1 LOC388130 15 LOC388130 LOC388131 15 LOC388131 TLE3 15q22 transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)
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