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Protein

T-box transcription factor TBX22

Gene

TBX22

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Probable transcriptional regulator involved in developmental processes. This is major determinant crucial to palatogenesis.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi96 – 283T-boxPROSITE-ProRule annotationAdd BLAST188

GO - Molecular functioni

GO - Biological processi

  • multicellular organism development Source: UniProtKB
  • negative regulation of transcription, DNA-templated Source: BHF-UCL
  • negative regulation of transcription by RNA polymerase II Source: BHF-UCL
  • regulation of transcription, DNA-templated Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
T-box transcription factor TBX22
Short name:
T-box protein 22
Gene namesi
Name:TBX22
Synonyms:TBOX22
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000122145.14
HGNCiHGNC:11600 TBX22
MIMi300307 gene
neXtProtiNX_Q9Y458

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Cleft palate with or without ankyloglossia, X-linked (CPX)3 Publications
The disease is caused by mutations 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.
See also OMIM:303400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015383118G → C in CPX. 1 PublicationCorresponds to variant dbSNP:rs104894944EnsemblClinVar.1
Natural variantiVAR_021831121M → V in CPX. 1 Publication1
Natural variantiVAR_021832183P → L in CPX. 1 Publication1
Natural variantiVAR_069900195S → SS in CPX. 1 Publication1
Natural variantiVAR_021829214L → P in CPX. 1 PublicationCorresponds to variant dbSNP:rs104894946EnsemblClinVar.1
Natural variantiVAR_015384260T → M in CPX. 1 PublicationCorresponds to variant dbSNP:rs104894943EnsemblClinVar.1
Natural variantiVAR_021830264N → Y in CPX. 1 PublicationCorresponds to variant dbSNP:rs28935177EnsemblClinVar.1
Abruzzo-Erickson syndrome (ABERS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis.
See also OMIM:302905

Keywords - Diseasei

Deafness, Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi50945
MalaCardsiTBX22
MIMi302905 phenotype
303400 phenotype
OpenTargetsiENSG00000122145
Orphaneti921 Abruzzo-Erickson syndrome
324601 X-linked cleft palate and ankyloglossia
PharmGKBiPA36363

Polymorphism and mutation databases

BioMutaiTBX22
DMDMi28381405

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001844551 – 520T-box transcription factor TBX22Add BLAST520

Proteomic databases

PaxDbiQ9Y458
PeptideAtlasiQ9Y458
PRIDEiQ9Y458
ProteomicsDBi86105
86106 [Q9Y458-2]

PTM databases

iPTMnetiQ9Y458
PhosphoSitePlusiQ9Y458

Expressioni

Tissue specificityi

Seems to be expressed at a low level.

Gene expression databases

BgeeiENSG00000122145
CleanExiHS_TBX22
ExpressionAtlasiQ9Y458 baseline and differential
GenevisibleiQ9Y458 HS

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
VENTXO952315EBI-6427217,EBI-10191303

Protein-protein interaction databases

BioGridi119172, 4 interactors
ELMiQ9Y458
IntActiQ9Y458, 9 interactors
STRINGi9606.ENSP00000362390

Structurei

3D structure databases

ProteinModelPortaliQ9Y458
SMRiQ9Y458
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiKOG3586 Eukaryota
ENOG410Y98J LUCA
GeneTreeiENSGT00760000118897
HOGENOMiHOG000039966
HOVERGENiHBG055831
InParanoidiQ9Y458
KOiK10186
OMAiFKETEFT
OrthoDBiEOG091G0I8R
PhylomeDBiQ9Y458
TreeFamiTF106341

Family and domain databases

CDDicd00182 TBOX, 1 hit
Gene3Di2.60.40.820, 1 hit
InterProiView protein in InterPro
IPR008967 p53-like_TF_DNA-bd
IPR036960 T-box_sf
IPR001699 TF_T-box
IPR018186 TF_T-box_CS
PANTHERiPTHR11267 PTHR11267, 1 hit
PfamiView protein in Pfam
PF00907 T-box, 1 hit
PRINTSiPR00937 TBOX
SMARTiView protein in SMART
SM00425 TBOX, 1 hit
SUPFAMiSSF49417 SSF49417, 1 hit
PROSITEiView protein in PROSITE
PS01283 TBOX_1, 1 hit
PS01264 TBOX_2, 1 hit
PS50252 TBOX_3, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y458-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:520
Mass (Da):57,910
Last modified:February 12, 2003 - v3
Checksum:i1502E19245CC2C93
GO
Isoform 2 (identifier: Q9Y458-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-120: Missing.

Show »
Length:400
Mass (Da):44,718
Checksum:iC06B60DADD29E6C3
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03606616V → A in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_03606751A → T in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_015383118G → C in CPX. 1 PublicationCorresponds to variant dbSNP:rs104894944EnsemblClinVar.1
Natural variantiVAR_021831121M → V in CPX. 1 Publication1
Natural variantiVAR_021832183P → L in CPX. 1 Publication1
Natural variantiVAR_021833187E → K1 PublicationCorresponds to variant dbSNP:rs34244923EnsemblClinVar.1
Natural variantiVAR_069900195S → SS in CPX. 1 Publication1
Natural variantiVAR_021829214L → P in CPX. 1 PublicationCorresponds to variant dbSNP:rs104894946EnsemblClinVar.1
Natural variantiVAR_069416249F → Y1 Publication1
Natural variantiVAR_015384260T → M in CPX. 1 PublicationCorresponds to variant dbSNP:rs104894943EnsemblClinVar.1
Natural variantiVAR_021830264N → Y in CPX. 1 PublicationCorresponds to variant dbSNP:rs28935177EnsemblClinVar.1
Natural variantiVAR_036068307D → N in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs750292974Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0409871 – 120Missing in isoform 2. 1 PublicationAdd BLAST120

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
CCDSiCCDS14445.1 [Q9Y458-1]
RefSeqiNP_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 [Q9Y458-2]
UniGeneiHs.374253

Genome annotation databases

EnsembliENST00000373294; ENSP00000362390; ENSG00000122145 [Q9Y458-1]
ENST00000373296; ENSP00000362393; ENSG00000122145 [Q9Y458-1]
ENST00000619509; ENSP00000479825; ENSG00000277800 [Q9Y458-1]
ENST00000628957; ENSP00000487295; ENSG00000277800 [Q9Y458-1]
GeneIDi50945
KEGGihsa:50945
UCSCiuc004edj.2 human [Q9Y458-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTBX22_HUMAN
AccessioniPrimary (citable) accession number: Q9Y458
Secondary accession number(s): Q5JZ06, Q96LC0, Q9HBF1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: February 12, 2003
Last modified: July 18, 2018
This is version 162 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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