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Tbx22 Gene Detail
Summary
  • Symbol
    Tbx22
  • Name
    T-box 22
  • Synonyms
    D230020M15Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2389465
    NCBI Gene: 245572
  • Gene Overview
    MyGene.info: TBX22
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:107667964-107688978 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 47.59 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    141 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2389465
protein coding gene ChrX:107667964-107688980 (.)
129S1/SvImJ MGP_129S1SvImJ_G0036015
protein coding gene ChrX:104515675-104536646 (+)
A/J MGP_AJ_G0035994
protein coding gene ChrX:104329679-104350693 (+)
AKR/J MGP_AKRJ_G0035913
protein coding gene ChrX:107625410-107646434 (+)
BALB/cJ MGP_BALBcJ_G0035985
protein coding gene ChrX:103091683-103112647 (+)
C3H/HeJ MGP_C3HHeJ_G0035691
protein coding gene ChrX:104983889-105005887 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036511
protein coding gene ChrX:107544737-107567578 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033339
protein coding gene ChrX:101581689-101603145 (+)
CAST/EiJ MGP_CASTEiJ_G0034978
protein coding gene ChrX:89058936-89084906 (+)
CBA/J MGP_CBAJ_G0035667
protein coding gene ChrX:110920351-110941237 (+)
DBA/2J MGP_DBA2J_G0035821
protein coding gene ChrX:103565610-103586551 (+)
FVB/NJ MGP_FVBNJ_G0035761
protein coding gene ChrX:102918977-102940255 (+)
LP/J MGP_LPJ_G0035913
protein coding gene ChrX:105468953-105494325 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035792
protein coding gene ChrX:115734301-115758587 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036538
protein coding gene ChrX:104055099-104077223 (+)
PWK/PhJ MGP_PWKPhJ_G0034674
protein coding gene ChrX:86583973-86605878 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034503
protein coding gene ChrX:89852848-89881931 (+)
WSB/EiJ MGP_WSBEiJ_G0035116
protein coding gene ChrX:102836773-102859704 (+)



Homology
more
  • Human Ortholog
    TBX22, T-box 22
  • Vertebrate Orthologs
    8
  • Human Ortholog
    TBX22, T-box 22
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ABERS, CLPA, CPX, dJ795G23.1, TBXX
  • Links
    NCBI Gene ID: 50945
    neXtProt AC: NX_Q9Y458
    UniProt: Q9Y458

  • Chr Location
    Xq21.1; chrX:80014730-80035828 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Tbx22 mouse models; 1 with human TBX22 associations

Human Disease Mouse Models
      
IDs
View 2 models
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
    16 phenotypes from 3 alleles in 3 genetic backgrounds
    4 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.
Half of homozygous female and hemizygous male null mice die neonatally due to breathing or feeding deficits, and show reduced bone formation in the posterior hard palate leading to submucous cleft palate, ankyloglossia, persistent oro-nasal membranes andoccasional overt clefts and choanal atresia.
Gene Ontology
(GO)
Classifications
less
  • 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 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 ENSMUSG00000031241 Ensembl Gene Model | MGI Sequence Detail 21015 C57BL/6J ±  kb
    transcript ENSMUST00000168174 Ensembl | MGI Sequence Detail 5217 Not Applicable  
    polypeptide ENSMUSP00000128247 Ensembl | MGI Sequence Detail 531 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • InterPro Domains
      IPR008967 p53-like transcription factor, DNA-binding
      IPR036960 T-box superfamily
      IPR001699 Transcription factor, T-box
      IPR018186 Transcription factor, T-box, conserved site
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 11
      Primer pair 4
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2444683
    References
    more
    • Summaries
      All 45
      Developmental Gene Expression 24
      Diseases 1
      Gene Ontology 2
      Phenotypes 4
    • Earliest
      J:79619 Braybrook C, et al., Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients. Hum Mol Genet. 2002 Oct 15;11(22):2793-804
    • Latest
      J:264402 Welsh IC, et al., Pbx loss in cranial neural crest, unlike in epithelium, results in cleft palate only and a broader midface. J Anat. 2018 Aug;233(2):222-242

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory