Ighmbp2 - immunoglobulin mu DNA binding protein 2 Gene

Also Known as AEP; nmd; sma; Catf1; Smbp2; Smbp-2; Smubp2; RIPE3b1

Species: Mus musculus

Gene Type: protein coding
Gene ID: 20589

Summary

Enables G-rich single-stranded DNA binding activity and ribosome binding activity. Acts upstream of or within negative regulation of transcription by RNA polymerase II; neuromuscular process; and spinal cord motor neuron differentiation. Located in several cellular components, including growth cone; neuronal cell body; and perinuclear region of cytoplasm. Part of ribonucleoprotein complex. Is expressed in several structures, including genitourinary system; heart; liver; lung; and nervous system. 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. Orthologous to human IGHMBP2 (immunoglobulin mu DNA binding protein 2). [provided by Alliance of Genome Resources, Apr 2022]

Ighmbp2 Products (1)

mRNA Protein Name
NM_009212.2 NP_033238.2 DNA-binding protein SMUBP-2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables ATP hydrolysis activity IDA
IDA: Inferred from direct assay
22965130 MGI
enables G-rich single-stranded DNA binding IDA
IDA: Inferred from direct assay
8493094 MGI
enables ribosome binding IDA
IDA: Inferred from direct assay
19158098 MGI
enables single-stranded RNA binding IDA
IDA: Inferred from direct assay
22965130 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of or within negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
15358184 MGI
acts upstream of or within neuromuscular process IMP
IMP: Inferred from mutant phenotype
15888478 MGI
acts upstream of or within spinal cord motor neuron differentiation IMP
IMP: Inferred from mutant phenotype
19299493 MGI
Cellular Component GO Annotation Evidence References Source
located in axon IDA
IDA: Inferred from direct assay
19158098 MGI
located in cytoplasm IDA
IDA: Inferred from direct assay
19299493 MGI
located in growth cone IDA
IDA: Inferred from direct assay
19158098 MGI
located in neuronal cell body IDA
IDA: Inferred from direct assay
15269181 MGI
located in nucleus IDA
IDA: Inferred from direct assay
19299493 MGI
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
19158098 MGI
part of ribonucleoprotein complex IDA
IDA: Inferred from direct assay
19158098 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

DNA-binding protein SMUBP-2

  • ATP-dependent helicase IGHMBP2

  • antifreeze enhancer-binding protein

  • cardiac transcription factor 1

  • immunoglobulin S mu binding protein 2

  • immunoglobulin mu binding protein 2

  • neuromuscular degeneration

  • p110 subunit

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS06638 IGHMBP2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Ighmbp2 NCBI NCBI:3508