Ighmbp2 Gene Summary [Mouse]

Enables several functions, including ATP hydrolysis activity; 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 Charcot-Marie-Tooth disease axonal type 2S and autosomal recessive distal hereditary motor neuronopathy 1. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2S and autosomal recessive distal hereditary motor neuronopathy 1. Orthologous to human IGHMBP2 (immunoglobulin mu DNA binding protein 2). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Ighmbp2
Official Name
immunoglobulin mu binding protein 2 [Source:MGI Symbol;Acc:MGI:99954]
Ensembl ID
ENSMUSG00000024831
Bio databases IDs NCBI: 20589 Ensembl: ENSMUSG00000024831
Aliases immunoglobulin mu binding protein 2
Synonyms AEP, CATF1, CMT2S, HCSA, HMN6, HMNR1, immunoglobulin mu DNA binding protein 2, nmd, RIPE3b1, sma, SMARD1, Smbp-2, SMUBP2, ZFAND7
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Ighmbp2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • tRNA binding
  • R3H
  • ATP binding
  • DNA helicase, putative
  • transcription factor binding
  • enzyme
  • protein binding
  • DNA dependent ATPase
  • RNA helicase
  • RNA dependent ATPase
  • identical protein binding
  • ATPase
  • single-stranded RNA binding
  • DNA binding
  • DNA helicase
  • AAA domain
  • RNA binding
  • single-stranded DNA binding
  • R3H domain
  • N-terminal helicase domain of the DEAD-box helicase superfamily
  • ribosome binding
  • AN1-like Zinc finger
  • variable light chain
  • P-loop containing Nucleoside Triphosphate Hydrolases

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulates
  • Bzlf1
  • TBP
  • E1b
  • TFIIA
  • RNA polymerase II
  • corticosterone
  • DNA promoter
  • DNA endogenous promoter
regulated by
disease
  • hereditary disorder
  • spinal muscular atrophy with respiratory distress type 1
  • axonal Charcot-Marie-Tooth disease type 2S
  • spinal muscular atrophy
  • peripheral neuropathy
  • Charcot-Marie-Tooth disease
  • distal hereditary motor neuronopathy type 1
  • distal spinal muscular atrophy
  • lepromatous leprosy
  • neurodevelopmental disorder
phenotypes
  • abnormal behavior
  • cataract
  • decreased bone mineral content
  • decreased circulating alkaline phosphatase level
  • decreased circulating aspartate transaminase level
  • decreased hematocrit
  • decreased mean corpuscular volume
  • decreased vertical activity
  • hyperactivity
  • hypoactivity
  • increased anxiety-related response
  • increased freezing behavior
  • increased thigmotaxis
  • preweaning lethality complete penetrance
  • thrombocytosis
  • abnormal QRS complex
  • abnormal Schwann cell morphology
  • abnormal axon morphology
  • abnormal cardiovascular system physiology
  • abnormal cell cytoskeleton morphology
  • abnormal circulating alkaline phosphatase level
  • abnormal diaphragm morphology
  • abnormal freezing behavior
  • abnormal gait
  • abnormal grip strength
  • abnormal heart morphology
  • abnormal heart valve morphology
  • abnormal heart ventricle morphology
  • abnormal impulse conducting system conduction
  • abnormal innervation pattern to muscle
  • abnormal intercalated disk morphology
  • abnormal masseter muscle morphology
  • abnormal myocardial fiber morphology
  • abnormal neuromuscular synapse morphology
  • abnormal skeletal muscle fiber morphology
  • abnormal temporalis muscle morphology
  • cardiac interstitial fibrosis
  • centrally nucleated skeletal muscle fibers
  • decreased grip strength
  • decreased heart rate
  • decreased pulmonary respiratory rate
  • decreased systemic arterial systolic blood pressure
  • dilated cardiomyopathy
  • dilated heart atrium
  • dilated heart ventricle
  • hindlimb paralysis
  • increased circulating creatine kinase level
  • increased heart rate variability
  • increased variability of skeletal muscle fiber size
  • limb grasping
  • motor neuron degeneration
  • muscle degeneration
  • myocardial fiber degeneration
  • myocardium necrosis
  • pleural effusion
  • premature death
  • prolonged P wave
  • prolonged PR interval
  • pulmonary edema
  • skeletal muscle fiber atrophy
  • skeletal muscle interstitial fibrosis
  • thin ventricular wall
  • weight loss
role in cell
  • differentiation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • Cytoplasm
  • perinuclear region
  • cytosol
  • nucleoplasm
  • nuclear bodies
  • growth cone
  • perikaryon
  • axons

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Ighmbp2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • DNA duplex unwinding
  • RNA secondary structure unwinding

Cellular Component

Where in the cell the gene product is active
  • growth cone
  • nucleus
  • nuclear body
  • cytoplasm
  • membrane
  • axon
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • ATPase activity
  • identical protein binding
  • DNA-dependent ATPase activity
  • zinc ion binding
  • RNA-dependent ATPase activity
  • double-stranded DNA-dependent ATP-dependent DNA helicase activity
  • transcription factor binding
  • tRNA binding
  • 5'-3' DNA helicase activity
  • single-stranded DNA binding
  • ATP binding
  • DNA binding
  • DNA helicase activity
  • RNA binding
  • protein binding
  • ribosome binding
  • single-stranded RNA binding
  • 5'-3' RNA helicase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.