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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
Corresponding disease
FIHP familial isolated hypoparathyroidism
HRPT4 hyperparathyroidism 4
Location 6p24.2      Physical location : 10.873.458 - 10.882.098
Synonym name
  • glial cells missing (Drosophila) homolog b
  • glial cells missing homolog b
  • GCM motif protein 2
  • glide/gcm protein homolog
  • chorion-specific transcription factor GCMb
  • glial cells missing 2
  • Synonym symbol(s) GCMB, RP3-417M14.3, hGCMb
    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
    Physical map
    LOC389365 6 LOC389365 OFCC1 6p24.3 orofacial cleft 1 candidate 1 LOC346096 6p24.1 similar to Rpl7a protein LOC391868 6 similar to 60S ribosomal protein L21 LOC391869 6 similar to ribosomal protein L7-like 1 TFAP2A 6p24.3-p24.2 transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) MGC40222 6p24.1 hypothetical protein MGC40222 MRPL48P1 6p24.1 mitochondrial ribosomal protein L48 pseudogene 1 GCNT2 6p24.1 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme LOC389366 6 similar to C6orf52 protein PAK1IP1 6p24.1 PAK1 interacting protein 1 C6orf53 6p24.1 chromosome 6 open reading frame 53 TMEM14B 6p25.1-p23 transmembrane protein 14B MAK 6q22 male germ cell-associated kinase GCM2 6p23 glial cells missing homolog 2 (Drosophila) LOC221711 6p24.1 hypothetical protein LOC221711 ELOVL2 6p22.3 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2 LOC389367 6 LOC389367 LOC389368 6 similar to hypothetical protein D930020E02 NEDD9 6p25-p24 neural precursor cell expressed, developmentally down-regulated 9 C6orf105 6p24.1 chromosome 6 open reading frame 105 LOC389369 6 LOC389369 HIVEP1 6p24.1 human immunodeficiency virus type I enhancer binding protein 1 EDN1 6p24.1 endothelin 1 RPEL1 6p23 RPEL repeat containing 1
    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