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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: IGHMBP2
Gene Tree: Ighmbp2

Human
homologs
IGHMBP2, immunoglobulin mu binding protein 2
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 3508
neXtProt AC: NX_P38935

Human Synonyms: CATF1, CMT2S, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7

Human Chr (Location): 11q13.3; chr11:68903851-68940601 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human IGHMBP2

Mutations,
alleles, and
phenotypes
All mutations/alleles(15) : Gene trapped(9) Spontaneous(2) Transgenic(4)
Incidental mutations (data from Mutagenetix , APF )
 
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 in Mice Using Ighmbp2 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Ighmbp2 interacts with 220 markers (Mir15a, Mir15b, Mir16-1, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (4 records)
Data Summary: Results (148)    Tissues (132)    Images (4)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 4
RNA in situ 123
Western blot 21
cDNA source data(35)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ighmbp2 ; ZFIN ighmbp2    NEW 
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 Phenotyping Consortium Status Ighmbp2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000028273 VEGA Gene Model | MGI Sequence Detail 22094 C57BL/6J ±  kb
transcript OTTMUST00000070065 VEGA | MGI Sequence Detail 3720 Not Applicable 
polypeptide OTTMUSP00000035661 VEGA | MGI Sequence Detail 993 Not Applicable 

For the selected sequences
All sequences(46) RefSeq(7) UniProt(4)
Polymorphisms
RFLP(1) : SNPs within 2kb(72 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003593 AAA+ ATPase domain
InterPro IPR004483 DNA helicase, putative
InterPro IPR014001 Helicase, superfamily 1/2, ATP-binding domain
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
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:197642 Krieger F, et al., Fast motor axon loss in SMARD1 does not correspond to morphological and functional alterations of the NMJ. Neurobiol Dis. 2013 Jun;54:169-82
All references(49)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-14446, MGD-MRK-16062, MGD-MRK-16757, MGI:99301

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory