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FLASH GENE
Symbol FAM69B contributors: mct - updated : 14-10-2011
HGNC name family with sequence similarity 69, member B
HGNC id 28290
Location 9q34.3      Physical location : 139.607.023 - 139.619.169
Synonym name
  • hypothetical protein LOC138311
  • pancreatitis-induced protein 49
  • Synonym symbol(s) C9orf136, pp6977, MGC20262,PIP49
    DNA
    TYPE functioning gene
    STRUCTURE 12.14 kb     5 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 2334 50.4 431 - 2011 21334309
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas   highly Homo sapiens
    Nervousbrainlimbic systemhippocampus highly Homo sapiens
     brainforebraincerebral cortex highly Homo sapiens
    Visualeye     Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell Homo sapiens
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal cytoplasmic di-arginine (RR) motifs, identified as an equivalent of C-terminal KK motifs, mediating ER retention via an interaction with COP I coatomer protein
  • HOMOLOGY
    interspecies ortholog to murine B230317C12Rik
    ortholog to rat pancreatitis-induced protein 49, PIP49
    Homologene
    FAMILY FAM69 family
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text endogenously expressed native FAM69B is found in the ER
    basic FUNCTION
  • cysteine-rich type II transmembrane protein
  • likely playing a fundamental and highly conserved role in the ER of most metazoan cells, with additional specialised roles in the vertebrate nervous system
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in an infantile haemangioma and in vascular endothelial cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS