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FLASH GENE
Symbol NHLH2 contributors: mct - updated : 11-10-2022
HGNC name nescient helix loop helix 2
HGNC id 7818
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • basic helix-loop-helix (HLH) protein
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    text coexpressed with NHLH1
    basic FUNCTION
  • involved in nervous system development
  • may serve as DNA-binding protein and may be involved in the control of cell-type determination, possibly within the developing nervous system
  • with NHLH1, maintain migration and survival of cells in the anterior extramural migration stream (aes)
  • NHLH2 transcriptional activity directly influences the human and rodent body weight control pathways
  • NHLH2 might function as a molecular sensor in different adult hypothalamic neurons to regulate energy balance, leading to normal body weight and reproduction
  • hypothalamic transcription factor that controls the expression of prohormone convertase 1/3, therefore having an impact on the processing of proopiomelanocortin and thus on energy homeostasis
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with LMO2
  • NHLH2 influences the melanocortin pathway through transcriptional regulation of prohormone convertase I, which influences the production of melanocortin peptides
  • NHLH2 is a transcriptional regulator of MC4R
  • transcriptional complex of LMO3 and NHLH2 may contribute to the genesis and malignant phenotype of neuroblastoma by inhibiting HES1 which suppresses the transactivation of ASCL1
  • leptin-induced STAT3 transcription factor as the major transcriptional regulator of NHLH2
  • NHLH2 has been shown to promote PCSK1 expression
  • cell & other
    REGULATION
    induced by induced by leptin
    ASSOCIATED DISORDERS
    corresponding disease(s) HH27
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in Prader-Willi syndrome
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    obesity  
    hypothalamic NHLH2 is a good target for the treatment of obesity
    ANIMAL & CELL MODELS
  • heterozygous Lmo3 and Hen2 transgenic mice (Tg (Lmo3) and Tg (Hen2)) developed hydrocephalus at higher frequency than for the wild type mice, and all heterozygous double-transgenic mice (Tg (Lmo3; Hen2)) developed hydrocephalus
  • Nhlh2-deficient mice display growth deficiencies as adolescents and hypogonadism, hyperphagia, and obesity as adults