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UniProtKB - Q9Y458 (TBX22_HUMAN)
Protein
T-box transcription factor TBX22
Gene
TBX22
Organism
Homo sapiens (Human)
Status
Functioni
Probable transcriptional regulator involved in developmental processes. This is major determinant crucial to palatogenesis.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 96 – 283 | T-boxPROSITE-ProRule annotationAdd BLAST | 188 |
GO - Molecular functioni
- DNA binding Source: BHF-UCL
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: NTNU_SB
GO - Biological processi
- cell fate specification Source: GO_Central
- negative regulation of transcription, DNA-templated Source: BHF-UCL
- negative regulation of transcription by RNA polymerase II Source: BHF-UCL
- regulation of transcription by RNA polymerase II Source: GO_Central
Keywordsi
Molecular function | DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q9Y458 |
SignaLinki | Q9Y458 |
SIGNORi | Q9Y458 |
Names & Taxonomyi
Protein namesi | Recommended name: T-box transcription factor TBX22Short name: T-box protein 22 |
Gene namesi | Name:TBX22 Synonyms:TBOX22 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11600, TBX22 |
MIMi | 300307, gene |
neXtProti | NX_Q9Y458 |
VEuPathDBi | HostDB:ENSG00000122145 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Cleft palate with or without ankyloglossia, X-linked (CPX)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA congenital mouth abnormality characterized by fissure of the soft and/or hard palate, due to faulty fusion. Some patients also manifest ankyloglossia, a condition in which movements of the tongue are restricted. Complete ankyloglossia is due to fusion between the tongue and the floor of the mouth. Partial ankyloglossia is due to a short lingual frenum or one which is attached too near the tip of the tongue.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015383 | 118 | G → C in CPX. 1 PublicationCorresponds to variant dbSNP:rs104894944EnsemblClinVar. | 1 | |
Natural variantiVAR_021831 | 121 | M → V in CPX. 1 Publication | 1 | |
Natural variantiVAR_021832 | 183 | P → L in CPX. 1 Publication | 1 | |
Natural variantiVAR_069900 | 195 | S → SS in CPX. 1 Publication | 1 | |
Natural variantiVAR_021829 | 214 | L → P in CPX. 1 PublicationCorresponds to variant dbSNP:rs104894946EnsemblClinVar. | 1 | |
Natural variantiVAR_015384 | 260 | T → M in CPX. 1 PublicationCorresponds to variant dbSNP:rs104894943EnsemblClinVar. | 1 | |
Natural variantiVAR_021830 | 264 | N → Y in CPX. 1 PublicationCorresponds to variant dbSNP:rs28935177EnsemblClinVar. | 1 |
Abruzzo-Erickson syndrome (ABERS)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disease characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis.
Related information in OMIMKeywords - Diseasei
Deafness, Disease variant, DwarfismOrganism-specific databases
DisGeNETi | 50945 |
MalaCardsi | TBX22 |
MIMi | 302905, phenotype 303400, phenotype |
OpenTargetsi | ENSG00000122145 |
Orphaneti | 921, Abruzzo-Erickson syndrome 324601, X-linked cleft palate and ankyloglossia |
PharmGKBi | PA36363 |
Miscellaneous databases
Pharosi | Q9Y458, Tbio |
Genetic variation databases
BioMutai | TBX22 |
DMDMi | 28381405 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000184455 | 1 – 520 | T-box transcription factor TBX22Add BLAST | 520 |
Proteomic databases
MassIVEi | Q9Y458 |
PaxDbi | Q9Y458 |
PeptideAtlasi | Q9Y458 |
PRIDEi | Q9Y458 |
ProteomicsDBi | 86105 [Q9Y458-1] 86106 [Q9Y458-2] |
PTM databases
iPTMneti | Q9Y458 |
PhosphoSitePlusi | Q9Y458 |
Expressioni
Tissue specificityi
Seems to be expressed at a low level.
Gene expression databases
Bgeei | ENSG00000122145, Expressed in right testis and 40 other tissues |
ExpressionAtlasi | Q9Y458, baseline and differential |
Genevisiblei | Q9Y458, HS |
Organism-specific databases
HPAi | ENSG00000122145, Group enriched (testis, thyroid gland) |
Interactioni
Binary interactionsi
Q9Y458
Protein-protein interaction databases
BioGRIDi | 119172, 11 interactors |
ELMi | Q9Y458 |
IntActi | Q9Y458, 15 interactors |
STRINGi | 9606.ENSP00000362390 |
Miscellaneous databases
RNActi | Q9Y458, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 91 | DisorderedSequence analysisAdd BLAST | 91 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 24 – 61 | Basic and acidic residuesSequence analysisAdd BLAST | 38 | |
Compositional biasi | 62 – 87 | Polar residuesSequence analysisAdd BLAST | 26 |
Phylogenomic databases
eggNOGi | KOG3586, Eukaryota |
GeneTreei | ENSGT00940000161206 |
HOGENOMi | CLU_030727_1_0_1 |
InParanoidi | Q9Y458 |
OMAi | PCPEVYL |
PhylomeDBi | Q9Y458 |
TreeFami | TF106341 |
Family and domain databases
CDDi | cd00182, TBOX, 1 hit |
Gene3Di | 2.60.40.820, 1 hit |
InterProi | View protein in InterPro IPR008967, p53-like_TF_DNA-bd IPR046360, T-box_DNA-bd IPR036960, T-box_sf IPR001699, TF_T-box IPR018186, TF_T-box_CS |
PANTHERi | PTHR11267, PTHR11267, 1 hit |
Pfami | View protein in Pfam PF00907, T-box, 1 hit |
PRINTSi | PR00937, TBOX |
SMARTi | View protein in SMART SM00425, TBOX, 1 hit |
SUPFAMi | SSF49417, SSF49417, 1 hit |
PROSITEi | View protein in PROSITE PS01283, TBOX_1, 1 hit PS01264, TBOX_2, 1 hit PS50252, TBOX_3, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9Y458-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MALSSRARAF SVEALVGRPS KRKLQDPIQA EQPELREKKG GEEEEERRSS
60 70 80 90 100
AAGKSEPLEK QPKTEPSTSA SSGCGSDSGY GNSSESLEEK DIQMELQGSE
110 120 130 140 150
LWKRFHDIGT EMIITKAGRR MFPSVRVKVK GLDPGKQYHV AIDVVPVDSK
160 170 180 190 200
RYRYVYHSSQ WMVAGNTDHL CIIPRFYVHP DSPCSGETWM RQIISFDRMK
210 220 230 240 250
LTNNEMDDKG HIILQSMHKY KPRVHVIEQG SSVDLSQIQS LPTEGVKTFS
260 270 280 290 300
FKETEFTTVT AYQNQQITKL KIERNPFAKG FRDTGRNRGV LDGLLETYPW
310 320 330 340 350
RPSFTLDFKT FGADTQSGSS GSSPVTSSGG APSPLNSLLS PLCFSPMFHL
360 370 380 390 400
PTSSLGMPCP EAYLPNVNLP LCYKICPTNF WQQQPLVLPA PERLASSNSS
410 420 430 440 450
QSLAPLMMEV PMLSSLGVTN SKSGSSEDSS DQYLQAPNST NQMLYGLQSP
460 470 480 490 500
GNIFLPNSIT PEALSCSFHP SYDFYRYNFS MPSRLISGSN HLKVNDDSQV
510 520
SFGEGKCNHV HWYPAINHYL
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0D9SGI2 | A0A0D9SGI2_HUMAN | T-box transcription factor TBX22 | TBX22 | 127 | Annotation score: | ||
A0A0G2JQK0 | A0A0G2JQK0_HUMAN | T-box transcription factor TBX22 | TBX22 | 71 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_036066 | 16 | V → A in a colorectal cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_036067 | 51 | A → T in a colorectal cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_015383 | 118 | G → C in CPX. 1 PublicationCorresponds to variant dbSNP:rs104894944EnsemblClinVar. | 1 | |
Natural variantiVAR_021831 | 121 | M → V in CPX. 1 Publication | 1 | |
Natural variantiVAR_021832 | 183 | P → L in CPX. 1 Publication | 1 | |
Natural variantiVAR_021833 | 187 | E → K1 PublicationCorresponds to variant dbSNP:rs34244923EnsemblClinVar. | 1 | |
Natural variantiVAR_069900 | 195 | S → SS in CPX. 1 Publication | 1 | |
Natural variantiVAR_021829 | 214 | L → P in CPX. 1 PublicationCorresponds to variant dbSNP:rs104894946EnsemblClinVar. | 1 | |
Natural variantiVAR_069416 | 249 | F → Y1 Publication | 1 | |
Natural variantiVAR_015384 | 260 | T → M in CPX. 1 PublicationCorresponds to variant dbSNP:rs104894943EnsemblClinVar. | 1 | |
Natural variantiVAR_021830 | 264 | N → Y in CPX. 1 PublicationCorresponds to variant dbSNP:rs28935177EnsemblClinVar. | 1 | |
Natural variantiVAR_036068 | 307 | D → N in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs750292974Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_040987 | 1 – 120 | Missing in isoform 2. 1 PublicationAdd BLAST | 120 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY035371 mRNA Translation: AAK63189.1 AL031000 Genomic DNA No translation available. CH471104 Genomic DNA Translation: EAW98588.1 BC014194 mRNA Translation: AAH14194.2 AF251684 mRNA Translation: AAG23749.1 |
CCDSi | CCDS14445.1 [Q9Y458-1] |
RefSeqi | NP_001103348.1, NM_001109878.1 [Q9Y458-1] NP_001103349.1, NM_001109879.1 [Q9Y458-2] NP_001290404.1, NM_001303475.1 [Q9Y458-2] NP_058650.1, NM_016954.2 [Q9Y458-1] XP_011529274.1, XM_011530972.1 |
Genome annotation databases
Ensembli | ENST00000373294.8; ENSP00000362390.5; ENSG00000122145.15 ENST00000373296.8; ENSP00000362393.3; ENSG00000122145.15 ENST00000619509.1; ENSP00000479825.1; ENSG00000277800.3 ENST00000628957.2; ENSP00000487295.1; ENSG00000277800.3 |
GeneIDi | 50945 |
KEGGi | hsa:50945 |
MANE-Selecti | ENST00000373296.8; ENSP00000362393.3; NM_001109878.2; NP_001103348.1 |
UCSCi | uc004edj.2, human [Q9Y458-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY035371 mRNA Translation: AAK63189.1 AL031000 Genomic DNA No translation available. CH471104 Genomic DNA Translation: EAW98588.1 BC014194 mRNA Translation: AAH14194.2 AF251684 mRNA Translation: AAG23749.1 |
CCDSi | CCDS14445.1 [Q9Y458-1] |
RefSeqi | NP_001103348.1, NM_001109878.1 [Q9Y458-1] NP_001103349.1, NM_001109879.1 [Q9Y458-2] NP_001290404.1, NM_001303475.1 [Q9Y458-2] NP_058650.1, NM_016954.2 [Q9Y458-1] XP_011529274.1, XM_011530972.1 |
3D structure databases
AlphaFoldDBi | Q9Y458 |
SMRi | Q9Y458 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 119172, 11 interactors |
ELMi | Q9Y458 |
IntActi | Q9Y458, 15 interactors |
STRINGi | 9606.ENSP00000362390 |
PTM databases
iPTMneti | Q9Y458 |
PhosphoSitePlusi | Q9Y458 |
Genetic variation databases
BioMutai | TBX22 |
DMDMi | 28381405 |
Proteomic databases
MassIVEi | Q9Y458 |
PaxDbi | Q9Y458 |
PeptideAtlasi | Q9Y458 |
PRIDEi | Q9Y458 |
ProteomicsDBi | 86105 [Q9Y458-1] 86106 [Q9Y458-2] |
Protocols and materials databases
Antibodypediai | 510, 214 antibodies from 28 providers |
DNASUi | 50945 |
Genome annotation databases
Ensembli | ENST00000373294.8; ENSP00000362390.5; ENSG00000122145.15 ENST00000373296.8; ENSP00000362393.3; ENSG00000122145.15 ENST00000619509.1; ENSP00000479825.1; ENSG00000277800.3 ENST00000628957.2; ENSP00000487295.1; ENSG00000277800.3 |
GeneIDi | 50945 |
KEGGi | hsa:50945 |
MANE-Selecti | ENST00000373296.8; ENSP00000362393.3; NM_001109878.2; NP_001103348.1 |
UCSCi | uc004edj.2, human [Q9Y458-1] |
Organism-specific databases
CTDi | 50945 |
DisGeNETi | 50945 |
GeneCardsi | TBX22 |
HGNCi | HGNC:11600, TBX22 |
HPAi | ENSG00000122145, Group enriched (testis, thyroid gland) |
MalaCardsi | TBX22 |
MIMi | 300307, gene 302905, phenotype 303400, phenotype |
neXtProti | NX_Q9Y458 |
OpenTargetsi | ENSG00000122145 |
Orphaneti | 921, Abruzzo-Erickson syndrome 324601, X-linked cleft palate and ankyloglossia |
PharmGKBi | PA36363 |
VEuPathDBi | HostDB:ENSG00000122145 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3586, Eukaryota |
GeneTreei | ENSGT00940000161206 |
HOGENOMi | CLU_030727_1_0_1 |
InParanoidi | Q9Y458 |
OMAi | PCPEVYL |
PhylomeDBi | Q9Y458 |
TreeFami | TF106341 |
Enzyme and pathway databases
PathwayCommonsi | Q9Y458 |
SignaLinki | Q9Y458 |
SIGNORi | Q9Y458 |
Miscellaneous databases
BioGRID-ORCSi | 50945, 17 hits in 716 CRISPR screens |
ChiTaRSi | TBX22, human |
GeneWikii | TBX22 |
GenomeRNAii | 50945 |
Pharosi | Q9Y458, Tbio |
PROi | PR:Q9Y458 |
RNActi | Q9Y458, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000122145, Expressed in right testis and 40 other tissues |
ExpressionAtlasi | Q9Y458, baseline and differential |
Genevisiblei | Q9Y458, HS |
Family and domain databases
CDDi | cd00182, TBOX, 1 hit |
Gene3Di | 2.60.40.820, 1 hit |
InterProi | View protein in InterPro IPR008967, p53-like_TF_DNA-bd IPR046360, T-box_DNA-bd IPR036960, T-box_sf IPR001699, TF_T-box IPR018186, TF_T-box_CS |
PANTHERi | PTHR11267, PTHR11267, 1 hit |
Pfami | View protein in Pfam PF00907, T-box, 1 hit |
PRINTSi | PR00937, TBOX |
SMARTi | View protein in SMART SM00425, TBOX, 1 hit |
SUPFAMi | SSF49417, SSF49417, 1 hit |
PROSITEi | View protein in PROSITE PS01283, TBOX_1, 1 hit PS01264, TBOX_2, 1 hit PS50252, TBOX_3, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | TBX22_HUMAN | |
Accessioni | Q9Y458Primary (citable) accession number: Q9Y458 Secondary accession number(s): Q5JZ06, Q96LC0, Q9HBF1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 11, 2001 |
Last sequence update: | February 12, 2003 | |
Last modified: | May 25, 2022 | |
This is version 185 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot