About   Help   FAQ
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
Location & Maps
more
  • Sequence Map
    ChrX:107667964-107688978 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      21015 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 47.59 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    TBX22, T-box 22
  • Vertebrate Orthologs
    8
  • Human Ortholog
    TBX22, T-box 22
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ABERS, CLPA, CPX, dJ795G23.1, TBXX
  • Links
    NCBI Gene ID: 50945
    neXtProt AC: NX_Q9Y458

  • Chr Location
    Xq21.1; chrX:80014728-80035828 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Tbx22 mouse models; 2 with human TBX22 associations

Human Disease Mouse Models
       Cleft Palate with or without Ankyloglossia, X-Linked; CPX   OMIM: 303400 View 2 models
       Abruzzo-Erickson Syndrome; ABERS   OMIM: 302905
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
less
  • Phenotype Summary
    13 phenotypes from 2 alleles in 2 genetic backgrounds
    3 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.
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
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
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
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018237 VEGA Gene Model | MGI Sequence Detail 21015 C57BL/6J ±  kb
transcript OTTMUST00000044073 VEGA | MGI Sequence Detail 5217 Not Applicable  
polypeptide OTTMUSP00000019812 VEGA | MGI Sequence Detail 531 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    141 from dbSNP Build 142
  • PCR
Protein
Information
less
  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000016150 T-box transcription factor TBX22
  • InterPro Domains
    IPR008967 p53-like transcription factor, DNA-binding
    IPR001699 Transcription factor, T-box
    IPR018186 Transcription factor, T-box, conserved site
Molecular
Reagents
less
  • All nucleic 15
    cDNA 10
    Primer pair 4
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:2444683
References
more
  • Summaries
    All 43
    Developmental Gene Expression 22
    Diseases 1
    Gene Ontology 3
    Phenotypes 3
  • 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:214981 Matsui M, et al., Multiple tissue-specific requirements for the BMP antagonist Noggin in development of the mammalian craniofacial skeleton. Dev Biol. 2014 Aug 15;392(2):168-81

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/17/2016
MGI 6.05
The Jackson Laboratory