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FLASH GENE
Symbol GCM2 contributors: mct/shn - updated : 30-11-2016
HGNC name glial cells missing homolog 2 (Drosophila)
HGNC id 4198
DNA
TYPE functioning gene
STRUCTURE 8.64 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map pter - D6S410 - D6S470 - GCM2 - D6S1034 - D6S1721 - cen
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 2379 - 506 - 2015 25917456
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineparathyroid   specific Homo sapiens
Urinarykidney   specific Homo sapiens
cell lineage
cell lines D283 Med, D341 Med (
fluid/secretion
at STAGE
physiological period fetal
Text brain
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal DNA binding motif called the GCM motif containing seven cysteine and four histidine residues retaining the same relative spacing
  • a nuclear bipartite localization signal (NLS)
  • three potential PEST motifs
  • a DNA-binding domain, transactivation domain I, an inhibitory domain and transactivation domain II (Canaff 2009)
  • a small C-terminal conserved inhibitory domain (CCID)
  • HOMOLOGY
    interspecies homolog to Drosophila glial cells missing gene
    ortholog to Gcm2, Mus musculus
    ortholog to gcm2, Danio rerio
    ortholog to Gcm2, Rattus norvegicus
    ortholog to GCM2, pan troglodytes
    Homologene
    FAMILY
  • small transcription factor family
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • a master regulatory gene of parathyroid gland development (
  • expressed in parathyroid tissue beyond embryonic development but may have regulatory roles in parathyroid gland biology later in life
  • transcription factor expressed in the parathyroid
  • hormone (PTH)- secreting cells of the parathyroid gland
    and is essential for their development (Canaff 2009)
  • involved in the epigenetic regulation of Hes5 transcription by DNA demethylation independently of DNA replication
  • is a transcription factor that is expressed predominantly in the pharyngeal pouches and, at later stages, in the developing and mature parathyroid glands
  • transcription factor required for parathyroid development
  • might also likely be involved in the pathogenesis of sporadic parathyroid adenomas
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    text organogenesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • MAFB interacts with GCM2 and regulates parathyroid hormone expression and parathyroid development
  • GATA3 interacted with GCM2 and MAFB, two known transcriptional regulators of parathyroid development, and synergistically stimulated the PTH promoter
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FIHP , HRPT4
    Susceptibility to primary hyperparathyroidism (PHPT)
    Variant & Polymorphism SNP
  • higher frequency of GCM2 282D in PHPT and enhanced transcriptional activity of this variant supports the notion that it could contribute causally to parathyroid tumorigenesis
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    osteoarticularbone 
    is a possible target for pharmacologic manipulation of PTH excess or deficiency
    ANIMAL & CELL MODELS
  • Gcm2-deficient mice are viable and fertile but lack parathyroid glands and exhibit a biological hypoparathyroidism (
  • Loss of Gcm1 gene result in the impaired induction of mouse neural stem cells (
  • in mice, homozygous disruption of Gcm2 by conventional gene targeting results in parathyroid aplasia and hypoparathyroidism