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FLASH GENE
Symbol ZNF512B contributors: mct - updated : 18-08-2011
HGNC name zinc finger protein 512B
HGNC id 29212
Location 20q13.33      Physical location : 62.588.054 - 62.601.218
Synonym name KIAA1196 protein
Synonym symbol(s) KIAA1196, GM632, MGC149845, MGC149846, GAM
DNA
TYPE functioning gene
STRUCTURE 13.00 kb     17 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 - 5919 97 892 - 2010 20639536
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