Tbx22 T-box 22 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tbx22provided by MGI
Official Full Name: T-box 22provided by MGI
Primary source: MGI:MGI:2389465
See related: Ensembl:ENSMUSG00000031241 AllianceGenome:MGI:2389465
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: D230020M15Rik
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in cell fate specification and negative regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus. Is expressed in several structures, including 1st branchial arch mesenchyme; alimentary system; face; nose; and vibrissa follicle. Used to study X-linked cleft palate with or without ankyloglossia. Human ortholog(s) of this gene implicated in Abruzzo-Erickson syndrome; X-linked cleft palate with or without ankyloglossia; and cleft palate. Orthologous to human TBX22 (T-box transcription factor 22). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: X D; X 47.59 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (106711570..106732586)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (107667964..107688980)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results demonstrate that FGF8 induces Tbx22 in the early face while BMP4 represses and thus restricts its expression. This regulation is conserved between chicken and mouse.
Title: Regulation of Tbx22 during facial and palatal development.
Data show that Tbx22 is an important determinant for intramembranous bone formation in the posterior hard palate, which underpins normal palate development and function.
Title: Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes.
Mn1 and Tbx22 function in a novel molecular pathway regulating mammalian palate development.
Title: The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice.
Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia (CPX) phenotype observed in CPX patients.
Title: Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.
In mouse embryos, it is expressed in distinct areas of the head, namely the mesenchyme of the inferior nasal septum, the posterior palatal shelf before fusion, the attachment of the tongue, and mesenchymal cells surrounding the eye anlage.
Title: Expression of mouse Tbx22 supports its role in palatogenesis and glossogenesis.
primary role for Tbx22 in both palate and tongue development
Title: Isolation and developmental expression analysis of Tbx22, the mouse homolog of the human X-linked cleft palate gene.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (4) 1 citation

General gene information

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Markers

UniSTS:471006 (e-PCR)
- UniSTS:471006

Tbx22 (e-PCR), detects polymorphism
- UniSTS:471006

UniSTS:471007 (e-PCR)
- UniSTS:471007

Tbx22 (e-PCR), detects polymorphism
- UniSTS:471007

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cell fate specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: T-box transcription factor TBX22

Names: T-box protein 22

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001290747.1 → NP_001277676.1 T-box transcription factor TBX22 isoform 3

See identical proteins and their annotated locations for NP_001277676.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' and 3' UTRs, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AF516208, AK053430, BB375235, BC152402

Consensus CDS

CCDS72420.1

UniProtKB/TrEMBL

Q8BKE4

Related

ENSMUSP00000127321.2, ENSMUST00000168403.2

Conserved Domains (1) summary

cl00145
Location:7 → 82

TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
NM_145224.3 → NP_660259.1 T-box transcription factor TBX22 isoform 1

See identical proteins and their annotated locations for NP_660259.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shortest transcript and encodes isoform 1.

Source sequence(s)

AF516208, AK084312, AL663048

Consensus CDS

CCDS30350.1

UniProtKB/Swiss-Prot

Q8K402

UniProtKB/TrEMBL

Q811Z5

Related

ENSMUSP00000112544.2, ENSMUST00000118986.8

Conserved Domains (1) summary

cd00182
Location:89 → 284

TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
NM_181319.5 → NP_851836.2 T-box transcription factor TBX22 isoform 2

See identical proteins and their annotated locations for NP_851836.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation from an alternate start codon, compared to variant 1. The encoded isoform (2) has a longer N-terminus than isoform 1.

Source sequence(s)

AF516208

Consensus CDS

CCDS30351.2

UniProtKB/TrEMBL

E9Q5R8, Q811Z5

Related

ENSMUSP00000128247.3, ENSMUST00000168174.9

Conserved Domains (1) summary

cd00182
Location:103 → 298

TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000086.8 Reference GRCm39 C57BL/6J

Range

106711570..106732586

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017318490.3 → XP_017173979.1 T-box transcription factor TBX22 isoform X1

UniProtKB/TrEMBL

Q811Z5

Conserved Domains (1) summary

cd00182
Location:90 → 285

TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
XM_017318491.3 → XP_017173980.1 T-box transcription factor TBX22 isoform X2

UniProtKB/Swiss-Prot

Q8K402

UniProtKB/TrEMBL

Q811Z5

Conserved Domains (1) summary

cd00182
Location:89 → 284

TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
XM_017318492.3 → XP_017173981.1 T-box transcription factor TBX22 isoform X3

UniProtKB/TrEMBL

Q811Z5

Conserved Domains (1) summary

cd00182
Location:1 → 167

TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
XM_006528040.5 → XP_006528103.1 T-box transcription factor TBX22 isoform X4

See identical proteins and their annotated locations for XP_006528103.1

Conserved Domains (1) summary

cl00145
Location:1 → 126

TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
XM_006528039.4 → XP_006528102.1 T-box transcription factor TBX22 isoform X4

See identical proteins and their annotated locations for XP_006528102.1

Conserved Domains (1) summary

cl00145
Location:1 → 126

TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
XM_036161956.1 → XP_036017849.1 T-box transcription factor TBX22 isoform X5

Conserved Domains (1) summary

cl00145
Location:1 → 67

T-box; DNA-binding domain of the T-box transcription factor family