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FLASH GENE
Symbol ZNF512B contributors: mct - updated : 18-08-2011
HGNC name zinc finger protein 512B
HGNC id 29212
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   moderately
Lymphoid/Immunethymus   moderately
Respiratoryrespiratory tractlarynx  lowly
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text brain
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
Zn-finger C2H2 type
HOMOLOGY
Homologene
FAMILY
  • krueppel C2H2-type zinc-finger protein family
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • may function as a transcription factor
  • represents a new kind of vertebrate regulator aimed at balancing the opposite effects of regulators of cell homeostasis by increasing the robustness of gene circuitries controlling cell proliferation, differentiation and development
  • important positive regulator of TGF-beta signaling and decreased ZNF512B expression increases susceptibility to amyotrophic lateral sclerosis (ALS)
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • Zn2+
    • protein
  • downregulates RNASEN, the main effector of miRNA maturation in the nucleus, and interacts with it in a RNA-dependent manner
  • modulates the levels of E2F1 and Ras, and increases apoptosis while reducing cell proliferation
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    increased in the anterior horn motor neurons of the spinal cord of ALS patients when compared with controls
    Susceptibility to amyotrophic lateral sclerosis (ALS)
    Variant & Polymorphism SNP
  • a functional SNP (rs2275294) was found to be significantly associated with ALS
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS