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Ighmbp2 Gene Detail
Summary
  • Symbol
    Ighmbp2
  • Name
    immunoglobulin mu binding protein 2
  • Synonyms
    AEP, Catf1, p110 subunit, RIPE3b1, sma, Smbp2, Smbp-2, Smubp2
  • Feature Type
    protein coding gene
  • IDs
    MGI:99954
    NCBI Gene: 20589
  • Gene Overview
    MyGene.info: IGHMBP2
Location & Maps
more
  • Sequence Map
    Chr19:3260924-3283017 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      22094 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 3.03 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    IGHMBP2, immunoglobulin mu binding protein 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    IGHMBP2, immunoglobulin mu binding protein 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CATF1, CMT2S, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7
  • Links
    NCBI Gene ID: 3508
    neXtProt AC: NX_P38935

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

Human Diseases
more
  • Diseases
    1 with Ighmbp2 mouse models; 2 with human IGHMBP2 associations

Human Disease Mouse Models
       Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1; DSMA1   OMIM: 604320 View 1 model
       Charcot-Marie-Tooth Disease, Axonal, Type 2s; CMT2S   OMIM: 616155
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    53 phenotypes from 6 alleles in 4 genetic backgrounds
    18 phenotypes from multigenic genotypes
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    15
  • Gene trapped
    9
  • Spontaneous
    2
  • Transgenic
    4
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    72 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 46
    Genomic 8
    cDNA 36
    Primer pair 1
    Other 1

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-14446, MGD-MRK-16062, MGD-MRK-16757, MGI:99301
References
more
  • Summaries
    All 48
    Developmental Gene Expression 4
    Diseases 2
    Gene Ontology 11
    Phenotypes 12
  • 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

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
07/19/2016
MGI 6.04
The Jackson Laboratory