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FLASH GENE
Symbol GSC2 contributors: mct - updated : 11-03-2011
HGNC name goosecoid homeobox 2
HGNC id 4613
DNA
TYPE functioning gene
STRUCTURE 1.29 kb     3 Exon(s)
MAPPING cloned Y linked N status confirmed
Map cen - D22S427 - D22S36 - DGCR2 /(D22S1715 - D22S1611 ) - D22S1633 - D22S1661 - D22S1626 - D22S1650 - D22S1653 - D22S946 ,D22S947 - D22S1692 - D22S1600 - D22S1690 - D22S1695 - DGCR14 /D22S1670 -D22S1667 - D22S1694 - GSC2 /(D22S1697 ,D22S1722 ,D22S1723 ) - D22S1699 - D22S1696 - D22S1691 -D22S1621 - D22S1693 - D22S1610 - D22S1669 - D22S1612 - D22S1646 - (D22S1625 )/HIRA - qter
Authors Funke (97)
Text see LCR22
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 618 21 205 - 1997 9441739
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain     Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, pregnancy
Text early development of neural crest-derived structure
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • helix-turn-helix and paired DNA binding domains
    • HOMOLOGY
    interspecies homolog to Xenopus goosecoid homeo domain gene-like
    Homologene
    FAMILY
  • paired homeobox family
  • bicoid subfamily
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION
    text restricted to the interpeduncular nucleus (IP) in the ventral region of the midbrain–hindbrain transition
    basic FUNCTION
  • putative playing a role in learning or psychiatric disorders
  • paralogue of goosecoid and a homeobox transcription factor that recognizes a specific DNA sequence and interacts with ring finger protein 4
  • transcription factor with suppressive activity, expressed during early brain and gonad development
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • GSC2/RNF4 interactions (in addition to acting as a modulator of transcriptional activity, RNF4 may function, as do other RING proteins, to promote the formation of intracytoplasmic complexes involved in shuttling information between the cytoplasm and the nucleus)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in Di George syndrome
    constitutional        
    loss of GSC2 and DGCR14 affects the regulation of hippocampal theta and rapid eye movement sleep, possibly contributing to the psychiatric symptoms frequently seen in patients who have 22q11 syndrome
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Gscl&
    • 8722;/&
    8722; mice have apparently normal anatomy and connections of the interpeduncular nucleus, but they exhibited a reduced total time spent in REM sleep and fewer rapid eye movement sleep (REM) episodes