Ighmbp2 - immunoglobulin mu DNA binding protein 2 Gene

Mus musculus

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

Gene ID: 20589 | Gene type: protein coding

About Ighmbp2

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	Reference	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	Reference	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	Reference	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

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

Name
Email *

	Sorry, but the email address you supplied was invalid.