TBX22

Protein identityUniProt · HPA

UniProt accession

Q9Y458

Gene

TBX22

Ensembl

ENSG00000122145

Chromosome

X

Canonical length

520 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

520 residues, UniProt reviewed canonical sequence.

>Q9Y458|TBX22
     1  MALSSRARAF SVEALVGRPS KRKLQDPIQA EQPELREKKG GEEEEERRSS AAGKSEPLEK
    61  QPKTEPSTSA SSGCGSDSGY GNSSESLEEK DIQMELQGSE LWKRFHDIGT EMIITKAGRR
   121  MFPSVRVKVK GLDPGKQYHV AIDVVPVDSK RYRYVYHSSQ WMVAGNTDHL CIIPRFYVHP
   181  DSPCSGETWM RQIISFDRMK LTNNEMDDKG HIILQSMHKY KPRVHVIEQG SSVDLSQIQS
   241  LPTEGVKTFS FKETEFTTVT AYQNQQITKL KIERNPFAKG FRDTGRNRGV LDGLLETYPW
   301  RPSFTLDFKT FGADTQSGSS GSSPVTSSGG APSPLNSLLS PLCFSPMFHL PTSSLGMPCP
   361  EAYLPNVNLP LCYKICPTNF WQQQPLVLPA PERLASSNSS QSLAPLMMEV PMLSSLGVTN
   421  SKSGSSEDSS DQYLQAPNST NQMLYGLQSP GNIFLPNSIT PEALSCSFHP SYDFYRYNFS
   481  MPSRLISGSN HLKVNDDSQV SFGEGKCNHV HWYPAINHYL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TBX22 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.53

Highest tissue expression

10 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TBX22.

Disease | AllUniProt

Conditions TBX22 is implicated in, by any mechanism.

• Cleft palate with or without ankyloglossia, X-linked (CPX) MIM:303400
• Abruzzo-Erickson syndrome (ABERS) MIM:302905

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 169 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Cleft palate with ankyloglossia
• Cleft palate with or without ankyloglossia, X-linked

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.3

gnomAD pLI

0.98

gnomAD missense Z

-0.13

DepMap mean gene effect

0.09

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell fate specification
• negative regulation of DNA-templated transcription
• negative regulation of transcription by RNA polymerase II
• positive regulation of DNA-templated transcription
• regulation of transcription by RNA polymerase II

Molecular functions

• DNA binding
• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• RNA polymerase II transcription regulatory region sequence-specific DNA binding

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• T-box transcription factor
• p53-like transcription factor, DNA-binding domain superfamily
• Transcription factor, T-box, conserved site
• T-box superfamily
• T-box transcription factor, DNA-binding domain
• T-box

KeywordsUniProt

• Deafness
• DNA-binding
• Dwarfism
• Nucleus
• Transcription
• Transcription regulation