Ighmbp2 immunoglobulin mu DNA binding protein 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ighmbp2provided by MGI
Official Full Name: immunoglobulin mu DNA binding protein 2provided by MGI
Primary source: MGI:MGI:99954
See related: Ensembl:ENSMUSG00000024831 AllianceGenome:MGI:99954
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: AEP; nmd; sma; Catf1; Smbp2; Smbp-2; Smubp2; RIPE3b1
Summary: Enables ATP hydrolysis activity; nucleic acid 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, Dec 2024]
Expression: Ubiquitous expression in ovary adult (RPKM 3.8), thymus adult (RPKM 3.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 A; 19 3.03 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (3309076..3333011, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (3259076..3283010, complement)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ighmbp2 deficiency results in local but modest disruption of protein biosynthesis which might contribute to motor neuron defects seen in SMARD1.
Title: Impaired Local Translation of β-actin mRNA in Ighmbp2-Deficient Motoneurons: Implications for Spinal Muscular Atrophy with respiratory Distress (SMARD1).
These data emphasize that neuromuscular degeneration as a result of Ighmbp2 mutation will compromise several critical parameters of bone quantity and architecture, the most severe occurring in the trabecular compartment.
Title: Devastation of bone tissue in the appendicular skeleton parallels the progression of neuromuscular disease.
IGHMBP2 is a component of the translational machinery.
Title: Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery.
IGHMBP2 is functionally linked to translation, and that mutations in its helicase domain interfere with this function in distal spinal muscular atrophy type 1 patients.
Title: IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1).
Ighmbp2 protein levels are strongly reduced in neuromuscular degeneration (nmd) mice, the mouse model of SMARD1.
Title: Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Double-transgenic nmd mice expressing Ighmbp2 both in myocytes and in neurons display correction of both dilated cardiomyopathy and motor neuron disease.
Title: Dilated cardiomyopathy in the nmd mouse: transgenic rescue and QTLs that improve cardiac function and survival.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4) 1 citation
Spontaneous (2) 1 citation
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D0M19Mit32 (e-PCR)
- UniSTS:128373

D19Mit32 (e-PCR), detects polymorphism
- UniSTS:128373

Ighmbp2 (e-PCR), detects polymorphism
- UniSTS:547247

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 5'-3' DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 5'-3' DNA helicase activity	ISO Inferred from Sequence Orthology more info
enables 5'-3' DNA helicase activity	ISS Inferred from Sequence or Structural Similarity more info
enables 5'-3' RNA helicase activity	ISO Inferred from Sequence Orthology more info
enables 5'-3' RNA helicase activity	ISS Inferred from Sequence or Structural Similarity more info
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info
enables ATP hydrolysis activity	IDA Inferred from Direct Assay more info	PubMed
enables ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent activity, acting on DNA	ISO Inferred from Sequence Orthology more info
enables ATP-dependent activity, acting on DNA	ISS Inferred from Sequence or Structural Similarity more info
enables ATP-dependent activity, acting on RNA	ISO Inferred from Sequence Orthology more info
enables ATP-dependent activity, acting on RNA	ISS Inferred from Sequence or Structural Similarity more info
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables G-rich single-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	ISO Inferred from Sequence Orthology more info
enables RNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	IEA Inferred from Electronic Annotation more info
enables double-stranded DNA helicase activity	ISO Inferred from Sequence Orthology more info
enables double-stranded DNA helicase activity	ISS Inferred from Sequence or Structural Similarity more info
enables forked DNA-dependent helicase activity	IEA Inferred from Electronic Annotation more info
enables four-way junction helicase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info	PubMed
enables ribosome binding	IDA Inferred from Direct Assay more info	PubMed
enables ribosome binding	ISO Inferred from Sequence Orthology more info
enables single-stranded 3'-5' DNA helicase activity	IEA Inferred from Electronic Annotation more info
enables single-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables single-stranded RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables single-stranded RNA binding	ISO Inferred from Sequence Orthology more info
enables tRNA binding	ISO Inferred from Sequence Orthology more info	PubMed
enables tRNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables transcription factor binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA duplex unwinding	ISO Inferred from Sequence Orthology more info
involved_in DNA duplex unwinding	ISS Inferred from Sequence or Structural Similarity more info
involved_in RNA secondary structure unwinding	ISO Inferred from Sequence Orthology more info
involved_in chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spinal cord motor neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in translation	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in axon	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in growth cone	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
part_of ribonucleoprotein complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: DNA-binding protein SMUBP-2

Names: 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

NP_033238.2

EC 3.6.4.12

EC 3.6.4.13

XP_036017390.1

EC 3.6.4.12

EC 3.6.4.13

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_009212.2 → NP_033238.2 DNA-binding protein SMUBP-2

See identical proteins and their annotated locations for NP_033238.2

Status: VALIDATED

Source sequence(s)

AC148174, AL626765

Consensus CDS

CCDS29393.1

UniProtKB/Swiss-Prot

P40694

UniProtKB/TrEMBL

A0A0B4J1E3

Related

ENSMUSP00000025751.4, ENSMUST00000025751.11

Conserved Domains (5) summary

cd02641
Location:724 → 782

R3H_Smubp-2_like; R3H domain of Smubp-2_like proteins. Smubp-2_like proteins also contain a helicase_like and an AN1-like Zinc finger domain and have been shown to bind single-stranded DNA. The name of the R3H domain comes from the characteristic spacing of the most ...

smart00154
Location:895 → 935

ZnF_AN1; AN1-like Zinc finger

TIGR00376
Location:19 → 640

TIGR00376; DNA helicase, putative

pfam13087
Location:417 → 613

AAA_12; AAA domain

pfam13245
Location:197 → 255

AAA_19; Part of AAA domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000085.7 Reference GRCm39 C57BL/6J

Range

3309076..3333011 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036161497.1 → XP_036017390.1 DNA-binding protein SMUBP-2 isoform X1

Conserved Domains (3) summary

cd02641
Location:303 → 361

R3H_Smubp-2_like; R3H domain of Smubp-2_like proteins. Smubp-2_like proteins also contain a helicase_like and an AN1-like Zinc finger domain and have been shown to bind single-stranded DNA. The name of the R3H domain comes from the characteristic spacing of the most ...

smart00154
Location:474 → 514

ZnF_AN1; AN1-like Zinc finger

TIGR00376
Location:1 → 219

TIGR00376; DNA helicase, putative