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Protein Coding Gene : Ighmbp2 immunoglobulin mu binding protein 2

Primary Identifier  MGI:99954 Organism  Mus musculus
Chromosome  19 NCBI Gene Number  20589
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources

Exhibits G-rich single-stranded DNA binding activity and ribosome binding activity. Involved in negative regulation of transcription by RNA polymerase II; neuromuscular process; and spinal cord motor neuron differentiation. Localizes to several cellular components, including the growth cone; neuronal cell body; and perinuclear region of cytoplasm. Used to study distal spinal muscular atrophy 1. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2S and distal spinal muscular atrophy 1. Is expressed in several structures, including genitourinary system; heart; liver; lung; and nervous system. Orthologous to human IGHMBP2 (immunoglobulin mu DNA binding protein 2).
PHENOTYPE: Mice homozygous for a spontaneous allele exhibit premature death, progressive limb muscle atrophy, decreased grip strength, severe motor neuron and axonal degeneration, dilated cardiomyopathy, myocardial fiber necrosis, increased heart rate variability, systolic dysfunction and respiratory failure. [provided by MGI curators]
  • synonyms:
  • Ighmbp2,
  • immunoglobulin mu binding protein 2,
  • MGD-MRK-14446,
  • Smbp-2,
  • Smubp2,
  • sma,
  • immunoglobulin S mu binding protein 2,
  • MGD-MRK-16757,
  • MGI:99301,
  • nmd,
  • spinal muscular atrophy,
  • AEP,
  • RIPE3b1,
  • MGD-MRK-16062,
  • Smbp2,
  • p110 subunit,
  • Catf1,
  • neuromuscular degeneration

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 Involved In Mutations

0 Strain

0 Transcripts

4 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

0 Pathways

242 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Mouse features --> Alleles

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications