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Cbfa2t2 Gene Detail
Summary
  • Symbol
    Cbfa2t2
  • Name
    CBFA2/RUNX1 translocation partner 2
  • Synonyms
    C330013D05Rik, Cbfa2t2h, MTGR1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1333833
    NCBI Gene: 12396
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:154278401-154381276 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 76.62 cM, cytoband C3.2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2145 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1333833
 protein coding gene Chr2:154278018-154381276 (+)
129S1/SvImJ MGP_129S1SvImJ_G0026715
 protein coding gene Chr2:159182373-159294792 (+)
A/J MGP_AJ_G0026681
 protein coding gene Chr2:152809494-152939411 (+)
AKR/J MGP_AKRJ_G0026652
 protein coding gene Chr2:157272013-157390647 (+)
BALB/cJ MGP_BALBcJ_G0026690
 protein coding gene Chr2:153131332-153236973 (+)
C3H/HeJ MGP_C3HHeJ_G0026433
 protein coding gene Chr2:157642176-157748936 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027139
 protein coding gene Chr2:163833508-163945451 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024509
 protein coding gene Chr2:146368043-146469420 (+)
CAST/EiJ MGP_CASTEiJ_G0025894
 protein coding gene Chr2:157952800-158065936 (+)
CBA/J MGP_CBAJ_G0026410
 protein coding gene Chr2:169789894-169903781 (+)
DBA/2J MGP_DBA2J_G0026547
 protein coding gene Chr2:152051330-152158794 (+)
FVB/NJ MGP_FVBNJ_G0026514
 protein coding gene Chr2:150440529-150545876 (+)
LP/J MGP_LPJ_G0026652
 protein coding gene Chr2:159299652-159412846 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026535
 protein coding gene Chr2:173842192-173956661 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027195
 protein coding gene Chr2:157148232-157265651 (+)
PWK/PhJ MGP_PWKPhJ_G0025628
 protein coding gene Chr2:151539832-151648448 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025431
 protein coding gene Chr2:156118366-156225002 (+)
WSB/EiJ MGP_WSBEiJ_G0025964
 protein coding gene Chr2:158071949-158186789 (+)



Homology
more
  • Human Ortholog
    CBFA2T2, CBFA2/RUNX1 partner transcriptional co-repressor 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CBFA2T2, CBFA2/RUNX1 partner transcriptional co-repressor 2
  • Synonyms
    EHT, MTGR1, p85, ZMYND3
  • Links
    NCBI Gene ID: 9139
    neXtProt AC: NX_O43439
    UniProt: O43439

  • Chr Location
    20q11.21-q11.22; chr20:33490075-33650036 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    25 phenotypes from 2 alleles in 2 genetic backgrounds
    15 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.
Homozygotes for a null allele are smaller and show reduced numbers of intestinal goblet, Paneth and enteroendocrine cells, small intestine inflammation, and strain dependent postnatal lethality. Homozygotes for a different null allele are infertile due to defects in primordial germ cell maturation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    27
  • GO References
    11
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
    988
  • Tissues
    150
  • cDNA Data
    98
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000038533 Ensembl Gene Model | MGI Sequence Detail 102876 C57BL/6J ±  kb
    transcript ENSMUST00000045270 Ensembl | MGI Sequence Detail 6069 Not Applicable  
    polypeptide ENSMUSP00000043087 Ensembl | MGI Sequence Detail 594 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 103
      Genomic 2
      cDNA 99
      Primer pair 1
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2445049
    References
    more
    • Summaries
      All 56
      Developmental Gene Expression 9
      Gene Ontology 11
      Phenotypes 15
    • Earliest
      J:50334 Calabi F, et al., CBFA2T1, a gene rearranged in human leukemia, is a member of a multigene family. Genomics. 1998 Sep 15;52(3):332-41
    • Latest
      J:340417 Hendrikse LD, et al., Failure of human rhombic lip differentiation underlies medulloblastoma formation. Nature. 2022 Sep;609(7929):1021-1028
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory