Ighmbp2
Gene Detail

Symbol Name ID

Ighmbp2 immunoglobulin mu binding protein 2 MGI:99954

Synonyms

AEP, Catf1, p110 subunit, RIPE3b1, sma, Smbp2, Smbp-2, Smubp2

Feature Type

protein coding gene

Genetic Map

Chromosome 19

3.03 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)

Sequence Map

Chr19:3260924-3283017 bp, - strand From VEGA annotation of GRCm38   22094 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:1642  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Gene Tree: Ighmbp2

Human homologs

Human Homolog		IGHMBP2, immunoglobulin mu binding protein 2
NCBI Gene ID		3508
neXtProt AC		NX_P38935
Human Synonyms		CATF1, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7
Human Chr (Location)		11q13.3; chr11:68671319-68708069 (+)  GRCh37.p10

Alleles and phenotypes

All alleles(11) : Gene trapped(9) Spontaneous(2)
 

Mice homozygous for a spontaneous allele exhibit premature death, progressive limb muscle atrophy, decreased grip strength, severe motor neuron and axonal degeneration, dilated cardiomyopathy, myocardial fiber necrosis, increased heart rate variability, systolic dysfunction and respiratory failure.

 
Human Diseases Modeled Using Mouse Ighmbp2 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (37 annotations)

Process	negative regulation of transcription from RNA polymerase II promoter, protein homooligomerization, ...
Component	axon, cell projection, ...
Function	ATP binding, ATP-dependent 5'-3' DNA helicase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (4 records)
Data Summary: Results (148)    Tissues (132)    Images (4)
Theiler Stages: 17, 18, 21, 22, 23, 26, 28

Assay Type	Results
Immunohistochemistry	4
RNA in situ	123
Western blot	21

cDNA source data(35)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(46) Genomic(8) cDNA(36) Primer pair(1) Other(1)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000028273 (Evidence)
Ensembl Gene Model	ENSMUSG00000024831 (Evidence)
Entrez Gene	20589 (Evidence)
UniGene	3179
DFCI	TC1579804, TC1603503
NIA Mouse Gene Index	U019116
EC	3.6.4.12, 3.6.4.13
Consensus CDS Project	CCDS29393.1
International Mouse Knockout Project Status	Ighmbp2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000028273	VEGA Gene Model | MGI Sequence Detail	22094	C57BL/6J
transcript	OTTMUST00000070065	VEGA | MGI Sequence Detail	3720	Not Applicable
polypeptide	OTTMUSP00000035661	VEGA | MGI Sequence Detail	993	Not Applicable

All sequences(40) RefSeq(2) UniProt(3)

Polymorphisms

RFLP(1) : SNPs(64 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR003593	AAA+ ATPase domain
InterPro	IPR026853	DNA-binding protein SMUBP-2
InterPro	IPR004483	DNA helicase, putative
InterPro	IPR014001	Helicase, superfamily 1/2, ATP-binding domain
InterPro	IPR001374	Single-stranded nucleic acid binding R3H
InterPro	IPR000058	Zinc finger, AN1-type
Protein Ontology	PR:000008964	DNA-binding protein SMUBP-2

References

(Earliest) J:4973 Mizuta TR, et al., Isolation of cDNA encoding a binding protein specific to 5'-phosphorylated single-stranded DNA with G-rich sequences. Nucleic Acids Res. 1993 Apr 25;21(8):1761-6
(Latest) J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
All references(50)

Other accession IDs

MGD-MRK-14446, MGD-MRK-16062, MGD-MRK-16757, MGI:99301