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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
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:3259076-3283010 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 3.03 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    77 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99954
protein coding gene Chr19:3259076-3283017 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024621
protein coding gene Chr19:5235-26768 (-)
A/J MGP_AJ_G0024588
protein coding gene Chr19:26236-48006 (-)
AKR/J MGP_AKRJ_G0024559
protein coding gene Chr19:13568-35108 (-)
BALB/cJ MGP_BALBcJ_G0024586
protein coding gene Chr19:13934-35923 (-)
C3H/HeJ MGP_C3HHeJ_G0024355
protein coding gene Chr19:11388-33514 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025034
protein coding gene Chr19:3213-25065 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022463
protein coding gene Chr19:8542-31625 (-)
CAST/EiJ MGP_CASTEiJ_G0023827
protein coding gene Chr19:6922-30728 (-)
CBA/J MGP_CBAJ_G0024325
protein coding gene Chr19:14577-38718 (-)
DBA/2J MGP_DBA2J_G0024454
protein coding gene Chr19:11592-33608 (-)
FVB/NJ MGP_FVBNJ_G0024421
protein coding gene Chr19:7965-30753 (-)
LP/J MGP_LPJ_G0024540
protein coding gene Chr19:14723-36186 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024451
protein coding gene Chr19:15638-39462 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025082
protein coding gene Chr19:2400-23940 (-)
PWK/PhJ MGP_PWKPhJ_G0023573
protein coding gene Chr19:14889-37343 (-)
SPRET/EiJ MGP_SPRETEiJ_G0014700
protein coding gene Chr19:2438-24546 (-)
WSB/EiJ MGP_WSBEiJ_G0023890
protein coding gene Chr19:5637-27188 (-)



Homology
more
  • Human Ortholog
    IGHMBP2, immunoglobulin mu DNA binding protein 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    IGHMBP2, immunoglobulin mu DNA binding protein 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CATF1, CMT2S, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7
  • Links
    NCBI Gene ID: 3508
    neXtProt AC: NX_P38935
    UniProt: P38935

  • Chr Location
    11q13.3; chr11:68903851-68940602 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    55 phenotypes from 7 alleles in 5 genetic backgrounds
    18 phenotypes from multigenic genotypes
    17 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20589 NCBI Gene Model | MGI Sequence Detail 23935 C57BL/6J ±  kb
    transcript NM_009212 RefSeq | MGI Sequence Detail 5562 Not Specified  
    polypeptide P40694 UniProt | EBI | MGI Sequence Detail 993 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 46
      Genomic 8
      cDNA 37
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-14446, MGD-MRK-16062, MGD-MRK-16757, MGI:99301
    References
    more
    • Summaries
      All 56
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 12
      Phenotypes 17
    • 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:265077 Surrey V, et al., Impaired Local Translation of beta-actin mRNA in Ighmbp2-Deficient Motoneurons: Implications for Spinal Muscular Atrophy with respiratory Distress (SMARD1). Neuroscience. 2018 Aug 21;386:24-40

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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    last database update
    08/13/2019
    MGI 6.14
    The Jackson Laboratory