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Ighmbp2 Gene Detail
Summary
  • Symbol
    Ighmbp2
  • Name
    immunoglobulin mu DNA binding protein 2
  • Synonyms
    AEP, Catf1, p110 subunit, RIPE3b1, sma, Smbp-2, Smbp2, Smubp2
  • Feature Type
    protein coding gene
  • IDs
    MGI:99954
    NCBI Gene: 20589
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:3309076-3333011 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 3.03 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    403 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99954
 protein coding gene Chr19:3309076-3333017 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    IGHMBP2, immunoglobulin mu DNA binding protein 2
  • Synonyms
    CATF1, CMT2S, HCSA, HMN6, HMNR1, SMARD1, SMUBP2, ZFAND7
  • Links
    NCBI Gene ID: 3508
    neXtProt AC: NX_P38935
    UniProt: P38935

  • Chr Location
    11q13.3; chr11:68903863-68940602 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Ighmbp2 mouse models; 2 with human IGHMBP2 associations

Human Disease Mouse Models
      
IDs
 View 2 models
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    79 phenotypes from 10 alleles in 8 genetic backgrounds
    18 phenotypes from multigenic genotypes
    24 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.
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
less
  • All GO Annotations
    61
  • GO References
    15
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    855
  • Tissues
    133
  • cDNA Data
    36
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20589 NCBI Gene Model | MGI Sequence Detail 23936 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 67
      Developmental Gene Expression 5
      Diseases 3
      Gene Ontology 15
      Phenotypes 24
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory