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FLASH GENE
Symbol ZCCHC12 contributors: mct/npt - updated : 13-10-2017
HGNC name zinc finger, CCHC domain containing 12
HGNC id 27273
Corresponding disease
MRX23 mental retardation, 23
Location Xq24      Physical location : 117.957.786 - 117.960.930
Synonym name
  • Smad-interacting zinc finger protein
  • paraneoplastic Ma antigen family member 7A
  • Synonym symbol(s) SIZN, SIZN1, FLJ16123, PNMA7A
    DNA
    TYPE functioning gene
    STRUCTURE 3.23 kb     4 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 2296 - 402 - 2008 18160706
    3 - 2244 - 402 - 2008 18160706
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary   
     thyroid    
    Nervousbrain    
    Reproductivefemale systemuteruscervix  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text in the developing basal forebrain cholinergic neurons
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two NLSs (200250 and 321345), and either one is sufficient for its nuclear localization (Cho 2009)
  • two SUMO interaction motifs (SIMs), required for its PML-NB (promyelocytic leukemia protein nuclear bodies) localization and for the full transcriptional co-activation function in BMP signaling (Cho 2009)
  • a CCHC-type zinc finger motif at the C-terminus, interacting with the MH1 domain of Smad1 and the N terminus of CREBBP(Cho 2009)
  • HOMOLOGY
    interspecies homolog to murine sizn1 (72p100)
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text
  • also detected in nuclear speckles in the septal nucleus of the basal forebrain (Cho 2009)
  • basic FUNCTION
  • functions as a transcriptional coactivator of bone morphogenic protein signaling
  • positive modulator of BMP signaling
  • positively modulates the BMP signal by interacting with Smad family members and cAMP-responsive element-binding protein-binding protein (Cho 2009)
  • functions as a transcriptional co-activator of AP1 and CREBBP (Li 2009)
  • role for ZCCHC12 in basal forebrain cholinergic neuron specific gene expression
  • has important biological functions and acts as a metastasis-related oncogene in papillary thyroid cancer (PTC)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • modulates BMP signaling by interacting with Smad family members and associating with CBP in the transcription complex
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRX23
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • may be a novel diagnostic molecular marker of papillary thyroid carcinoma
  • Therapy target
    ANIMAL & CELL MODELS