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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Lymphoid/Immune spleen       highly   thymus       highly Nervous spinal cord         Reproductive male system testis     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective bone subchondral     Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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