TBX22
TBX22 | |||
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Identifiers | |||
Gene ontology | |||
Molecular function | |||
Cellular component | |||
Biological process | |||
Sources:Amigo / QuickGO |
Ensembl | |||||||||
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UniProt | |||||||||
RefSeq (mRNA) | |||||||||
RefSeq (protein) | |||||||||
Location (UCSC) | Chr X: 80.01 – 80.03 Mb | Chr X: 106.71 – 106.73 Mb | |||||||
PubMed search | [3] | [4] |
View/Edit Human | View/Edit Mouse |
T-box transcription factor TBX22 is a protein that in humans is encoded by the TBX22 gene.[5]
TBX22 is a member of a phylogenetically conserved family of proteins that share a common DNA-binding domain, the
TBX22 is composed of seven exons spanning 8.7 kilobases of genomic DNA in Xq21.1. The TBX22 mRNA is 2099 base pairs long and encodes a 400-amino-acids protein containing a T-domain in its NH2-terminal region which has the unique feature of missing 20 amino-acids relative to the other known T-domains.[8]
Function
T-box genes are members of a family of transcriptional regulators that contain a region encoding a conserved DNA-binding motif of approximately 200 amino acids: the T-domain. These genes are grouped together on the basis of the homology existing between their products and the mouse
Functional studies have demonstrated that several T-box genes are involved in
Clinical significance
In humans, two T-box genes are involved in inherited disorders: mutations in TBX5 cause Holt–Oram syndrome, whereas mutations in TBX3 cause ulnar–mammary syndrome.[8]
Mutations in TBX22 cause X-linked cleft palate and ankyloglossia.
It has been demonstrated that TBX22 makes a significant contribution to the prevalence of cleft palate at least in the Brazilian and the North American cohorts.[8] To date, 10 different TBX22 mutations have been reported in patients with CP and/or ankyloglossia.[11] These include small deletions/insertions, nonsense, splice site, frameshift and missense alterations.[7]
References
- ^ a b c ENSG00000122145 GRCh38: Ensembl release 89: ENSG00000277800, ENSG00000122145 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031241 - Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: TBX22 T-box 22".
- S2CID 28939959.
- ^ S2CID 2244618.
- ^ PMID 11024289.
- PMID 21331089.
- PMID 14729838.
- ^ Online Mendelian Inheritance in Man (OMIM): T-BOX 22; TBX22 - 300307
Further reading
- Laugier-Anfossi F, Villard L (2000). "Molecular characterization of a new human T-box gene (TBX22) located in xq21.1 encoding a protein containing a truncated T-domain". Gene. 255 (2): 289–96. PMID 11024289.
- Braybrook C, Doudney K, Marçano AC, et al. (2001). "The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia". Nat. Genet. 29 (2): 179–83. S2CID 28939959.
- Aldred MA (2002). "Cleft lip and palate: new genetic clues". Trends in Molecular Medicine. 7 (12): 539–40. PMID 11733204.
- Braybrook C, Lisgo S, Doudney K, et al. (2003). "Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients". Hum. Mol. Genet. 11 (22): 2793–804. PMID 12374769.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMID 12477932.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. PMID 14702039.
- Marçano AC, Doudney K, Braybrook C, et al. (2004). "TBX22 mutations are a frequent cause of cleft palate". J. Med. Genet. 41 (1): 68–74. PMID 14729838.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. PMID 15489334.
- Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–37. PMID 15772651.
- Andreou AM, Pauws E, Jones MC, et al. (2007). "TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression". Am. J. Hum. Genet. 81 (4): 700–12. PMID 17846996.
- Suphapeetiporn K, Tongkobpetch S, Siriwan P, Shotelersuk V (2008). "TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population". Clin. Genet. 72 (5): 478–83. S2CID 2244618.
External links
- TBX22+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- WikiGenes TBX22
- TBX22 human gene location in the UCSC Genome Browser.
- TBX22 human gene details in the UCSC Genome Browser.