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Gene: Ighmbp2 (immunoglobulin mu binding protein 2) Mus musculus
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Symbol: Ighmbp2
Name: immunoglobulin mu binding protein 2
Description: 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); INTERACTS WITH 3,4-methylenedioxymethamphetamine; 4,4'-diaminodiphenylmethane; bis(2-chloroethyl) sulfide.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: AEP; antifreeze enhancer-binding protein; ATP-dependent helicase IGHMBP2; cardiac transcription factor 1; Catf1; DNA-binding protein SMUBP-2; immunoglobulin mu-binding protein 2; immunoglobulin S mu binding protein 2; neuromuscular degeneration; nmd; p110 subunit; RIPE3b1; sma; Smbp-2; Smbp2; Smubp2
Orthologs:
Homo sapiens (human) : IGHMBP2 (immunoglobulin mu DNA binding protein 2)  HGNC  Alliance
Rattus norvegicus (Norway rat) : Ighmbp2 (immunoglobulin mu DNA binding protein 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Ighmbp2 (immunoglobulin mu DNA binding protein 2)
Pan paniscus (bonobo/pygmy chimpanzee) : IGHMBP2 (immunoglobulin mu DNA binding protein 2)
Canis lupus familiaris (dog) : IGHMBP2 (immunoglobulin mu DNA binding protein 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Ighmbp2 (immunoglobulin mu DNA binding protein 2)
Sus scrofa (pig) : IGHMBP2 (immunoglobulin mu DNA binding protein 2)
Chlorocebus sabaeus (African green monkey) : IGHMBP2 (immunoglobulin mu DNA binding protein 2)
Heterocephalus glaber (naked mole-rat) : Ighmbp2 (immunoglobulin mu DNA binding protein 2)
more info ...
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm38 Ensembl193,259,076 - 3,283,017 (-)Ensembl
GRCm38193,259,076 - 3,283,010 (-)NCBIGRCm38GRCm38mm10GRCm38
MGSCv37193,259,076 - 3,283,010 (-)NCBIGRCm37mm9NCBIm37
MGSCv36193,259,076 - 3,282,906 (-)NCBImm8
Celera193,128,514 - 3,152,444 (-)NCBICelera
Cytogenetic Map19 ANCBI
cM Map193.03NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
QTLs in Region (GRCm38)
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
 
More on Ighmbp2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: mm9 mm10
MGI Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 68451
Created: 2001-07-11
Species: Mus musculus
Last Modified: 2019-11-27
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.