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FLASH GENE
Symbol IGHMBP2 contributors: mct/npt/shn - updated : 30-12-2010
HGNC name immunoglobulin mu binding protein 2
HGNC id 5542
Corresponding disease
CMT2S Charcot-Marie Tooth disease type 2 S
SMARD1 diaphragmatic spinal muscular atrophy with respiratory distress 1
Location 11q13.3      Physical location : 68.671.318 - 68.708.069
Synonym name
  • ATP-dependent helicase IGHMBP2
  • DNA-binding protein SMUBP-2
  • GF-1
  • cardiac transcription factor 1
  • glial factor 1
  • immunoglobulin mu-binding protein 2
    • Synonym symbol(s) SMUBP2, CATF1, HCSA, SMARD1, HMN6, SMBP2, GF-1, FLJ41171, FLJ34220
    EC.number 3.6.4.12
    DNA
    TYPE functioning gene
    STRUCTURE 36.75 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • a 108-bp region is essential for basal promoter activity
  • GGAA motifs are located upstream of the transcription start sites and duplicated GGAA motifs are essential for the IGHMBP2 promoter activity and its positive response to TPA in HL-60 cells
    • MAPPING cloned Y linked N status confirmed
    Map cen - D11S1337 - D11S4178 - IGHMBP2 - D11S4113 - D11S4095 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 3955 - 993 highly in cell bodies, axons and growth cones of pinal motor neurons - 15269181
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen   highly
     thymus   highly
    Nervousspinal cord    
    Reproductivemale systemtestis  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebonesubchondral  
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a AN1-type zinc finger
  • a R3H domain
  • helicase-like motifs
  • a DNA-binding domain with no homology to any known DNA-binding motif
  • a DNA/RNA helicase domain
  • nucleic acid-binding domains
    • HOMOLOGY
    interspecies ortholog to Ighmbp2, Mus musculus
    ortholog to Ighmbp2, Rattus norvegicus
    ortholog to IGHMBP2, Pan troglodytes
    Homologene
    FAMILY
  • helicase superfamily
    • CATEGORY immunity/defense , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,ribosome
    intracellular,nucleus
    text
  • highly in the cytoplasm including axons and growth cones of motor neurons, lowly in the nucleus
  • localizes predominantly to the cytoplasm of neuronal and non-neuronal cells and associates with ribosomes (Guenther 2009)
    • basic FUNCTION
  • having a strong DNA-dependent ATPase activity and a possible role during S phase and in DNA synthesis (Biswas 2001)
  • stimulating the transcription of the human neurotropic virus JCV
  • role in the maintenance and survival of motor neurons and skeletal and cardiac myocytes
  • ATP-dependent 5 prime /3 prime helicase, involved in neurons, skeletal and cardiac myocytes maintenance and survival
  • an ATP-dependent 5' --> 3' helicase, which unwinds RNA and DNA duplices
  • DNA-binding protein specific to 5'-phosphorylated single-stranded guanine-rich sequence related to the
    • immunoglobulin mu chain switch region
  • may function in RNA processing, regulation or metabolism (de Planell-Saguer 2009)
    • CELLULAR PROCESS nucleotide, replication
    nucleotide, transcription
    nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component of the translational machinery and that these components can be manipulated genetically to suppress motor neuron degeneration
    INTERACTION
    DNA single-stranded DNA
    RNA
    small molecule cofactor,
  • ATP
    • protein
    cell & other ribosomes
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SMARD1 , CMT2S
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   inversion    
    genomic rearrangement in late onset SMARD1 patient
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
  • transgenic mice expressing the full-length Ighmbp2 cDNA in myocytes have an increased lifespan up to 8-fold by preventing primary dilated cardiomyopathy and showed complete functional correction as measured by ECG, echocardiography and plasma creatine kinase-MB
  • nmd mice expressing Ighmbp2 both in myocytes and in neurons display correction of both dilated cardiomyopathy and motor neuron disease
    • ANIMAL & CELL MODELS
  • recessive mutation of the Ighmbp2 gene in neuromuscular degeneration (nmd) mice causes progressive neurogenic atrophy of limb muscles and mice show significant loss of motor neurons with large caliber axons and a moderate reduction of neurons with small caliber axons in the ventral nerve roots of the spinal cord
  • Ighmbp2 protein levels are strongly reduced in neuromuscular degeneration (nmd) mice, the mouse model of SMARD1 and mutant mice show severe motor neuron degeneration
  • Mutations in Ighmbp2 gene cause motor neuron disease and dilated cardiomyopathy in the neuromuscular degeneration (nmd) mouse
  • nmd mice, an animal model of SMARD1, display down-regulation of genes involved in excitatory amino acid toxicity and oxidative stress handling, and an up-regulation of genes related to the chromatin organization