TBX22 T-box transcription factor 22 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TBX22provided by HGNC
Official Full Name: T-box transcription factor 22provided by HGNC
Primary source: HGNC:HGNC:11600
See related: Ensembl:ENSG00000122145 MIM:300307; AllianceGenome:HGNC:11600
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CPX; CLPA; TBXX; ABERS; dJ795G23.1
Summary: This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward testis (RPKM 6.4) See more
Orthologs: mouse all
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Genomic context

Location:: Xq21.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (80014753..80031774)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (78447022..78464040)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (79270252..79287273)

Chromosome X - NC_000023.11 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22.
Title: A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22.
Findings indicate the important role of T-box 22 protein (TBX22) in familial cases with X-linked cleft palate.
Title: Novel TBX22 mutations in Chinese nonsyndromic cleft lip/palate families.
we analysed two TBX22 promoter rs7055763 and rs41307258 single-nucleotide polymorphisms (SNPs) in 173 patients with NSCLP and 176 normal controls of south Indian origin using Kbioscience KASPar chemistry
Title: Two promoter polymorphisms in TBX22 are associated with the risk of NSCLP in Indian women.
These results suggest that a loss-of-function mutation in the X-linked TBX22 promoter may cause the cleft palate through disruption of TBX22-ETS-1 pathway.
Title: Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate.
TBX22 is the gene underlying Abruzzo-Erickson syndrome.
Title: X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.
5 putative missense mutations were identified, 3 located in T-box binding domain (R120Q, R126W, and R151L) that affects DNA binding and/or transcriptional repression. 2 novel C-terminal mutations, P389Q and S400Y, did not affect TBX22 activity.
Title: Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.
Analysis of the TBX22 promoter region revealed seven sequence variants, two of which are associated with cleft palate; this effect is stronger in a subgroup stratified for the presence of ankyloglossia.
Title: A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate.
TBX22 mutations are responsible for a significant proportion of Thai non-syndromic cleft palate cases.
Title: TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population.
TBX22 is a target for the small ubiquitin-like modifier SUMO-1 and this modification is required for TBX22 repressor activity.
Title: TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Abruzzo-Erickson syndrome MedGen: C1844862 OMIM: 302905 GeneReviews: Not available	not available
Cleft palate with or without ankyloglossia, X-linked MedGen: C1844830 OMIM: 303400 GeneReviews: Not available	not available

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-03-28) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2023-03-28) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

TBX22_728 (e-PCR)
- UniSTS:277795

TBX22_V95 (e-PCR)
- UniSTS:277795

D12S396 (e-PCR)
- UniSTS:27979

L47783 (e-PCR)
- UniSTS:23649

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment 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 transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
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
located_in chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: T-box transcription factor TBX22

Names: T-box 22; 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.

Genomic

NG_008998.1 RefSeqGene

Range

4998..22019

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001109878.2 → NP_001103348.1 T-box transcription factor TBX22 isoform 1

See identical proteins and their annotated locations for NP_001103348.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform.

Source sequence(s)

AK097514, AL031000, AY035371, DB456367

Consensus CDS

CCDS14445.1

UniProtKB/Swiss-Prot

Q5JZ06, Q96LC0, Q9HBF1, Q9Y458

Related

ENSP00000362393.3, ENST00000373296.8

Conserved Domains (1) summary

cd00182
Location:91 → 287

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_001109879.2 → NP_001103349.1 T-box transcription factor TBX22 isoform 2

See identical proteins and their annotated locations for NP_001103349.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice donor site, and it thus differs in its 5' UTR and initiates translation from an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1. Both variants 3 and 4 encode isoform 2.

Source sequence(s)

AK097514, AL031000, AY035371

UniProtKB/TrEMBL

B3KUL8

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 ...
NM_001303475.1 → NP_001290404.1 T-box transcription factor TBX22 isoform 2

See identical proteins and their annotated locations for NP_001290404.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate splice donor site, and it thus differs in its 5' UTR and initiates translation from an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1. Both variants 3 and 4 encode isoform 2.

Source sequence(s)

AF251684, AW104387, AY035371

UniProtKB/TrEMBL

B3KUL8

Related

ENST00000626877.1

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 ...
NM_016954.2 → NP_058650.1 T-box transcription factor TBX22 isoform 1

See identical proteins and their annotated locations for NP_058650.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AY035371, BC014194

Consensus CDS

CCDS14445.1

UniProtKB/Swiss-Prot

Q5JZ06, Q96LC0, Q9HBF1, Q9Y458

Related

ENSP00000362390.5, ENST00000373294.8

Conserved Domains (1) summary

cd00182
Location:91 → 287

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 ...