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FLASH GENE
Symbol NHLH2 contributors: mct - updated : 07-10-2016
HGNC name nescient helix loop helix 2
HGNC id 7818
Location 1p13.1      Physical location : 116.379.000 - 116.383.747
Synonym name helix-loop-helix protein 2
Synonym symbol(s) HEN2, NSCL2, bHLHa34, KIAA0490
DNA
TYPE functioning gene
STRUCTURE 4.75 kb     3 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (CAAT box) (TATA box)
MAPPING cloned Y linked N status provisional
Physical map
LOC347675 1p13.1 eukaryotic translation initiation factor 2 beta-like pseudogene LOC339395 1p13.1 similar to Pyruvate kinase, M2 isozyme BCAS2 1p21-p13.3 breast carcinoma amplified sequence 2 FLJ37099 1p13.1 FLJ37099 protein AMPD1 1p13 adenosine monophosphate deaminase 1 (isoform M) NRAS 1p13.2 neuroblastoma RAS viral (v-ras) oncogene homolog D1S155E 1p22 NRAS-related gene FLJ21168 1p13.1 hypothetical protein FLJ21168 SYCP1 1p13 synaptonemal complex protein 1 TSHB 1p13 thyroid stimulating hormone, beta TSPAN-2 1p13.1 tetraspan 2 NGFB 1p13.1 nerve growth factor, beta polypeptide LOC391068 1 similar to mCAF1 protein VANGL1 1p11-p13.1 vang-like 1 (van gogh, Drosophila) LOC387624 1 hypothetical gene supported by NM_024062 CASQ2 1p13.3-p11 calsequestrin 2 (cardiac muscle) NHLH2 1p12-p11 nescient helix loop helix 2 LOC343019 1p12 similar to Hnrpa1 protein SLC22A15 1p12 solute carrier family 22 (organic cation transporter), member 15 FLJ38716 1p12 hypothetical protein FLJ38716 ATP1A1 1p13 ATPase, Na+/K+ transporting, alpha 1 polypeptide MGC16179 1p12 hypothetical protein MGC16179 LOC148766 1p12 hypothetical LOC148766 CD58 1p13 CD58 antigen, (lymphocyte function-associated antigen 3) IGSF3 1p13 immunoglobulin superfamily, member 3 LOC388667 1 LOC388667 LOC391069 1 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) LOC339396 1p12 similar to neurofilament, heavy polypeptide 200kDa; Neurofilament, heavy polypeptide; neurofilament, heavy polypeptide (200kD) CD2 1p13.1 CD2 antigen (p50), sheep red blood cell receptor PTGFRN 1p13.1-q21.3 prostaglandin F2 receptor negative regulator IGSF2 1p13 immunoglobulin superfamily, member 2 TTF2 1p13.1 transcription termination factor, RNA polymerase II TRIM45 1q12-21 tripartite motif-containing 45 LOC391070 1 similar to 40S ribosomal protein S15a B7-H4 1p12 immune costimulatory protein B7-H4
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 2501 - 135 - -
3 - 2512 - 135 - -
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouthtongue   
Hearing/Equilibriumearinner   
Visualeye    
cell lineage
cell lines neuroblastoma cell line
fluid/secretion
at STAGE
physiological period embryo, fetal
Text
  • developing central and peripheral nervous system
  • in developing cranial ganglia, the retina and the vestibular nerve
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • basic helix-loop-helix (HLH) protein
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    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
  • 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
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    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