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Q9Y458 (TBX22_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 127. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
T-box transcription factor TBX22

Short name=T-box protein 22
Gene names
Name:TBX22
Synonyms:TBOX22
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length520 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Nucleus Potential.

Tissue specificity

Seems to be expressed at a low level.

Involvement in disease

Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.7 Ref.8

Abruzzo-Erickson syndrome (ABERS) [MIM:302905]: A disease characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Contains 1 T-box DNA-binding domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y458-1)

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.
Isoform 2 (identifier: Q9Y458-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 520520T-box transcription factor TBX22
PRO_0000184455

Regions

DNA binding96 – 283188T-box

Natural variations

Alternative sequence1 – 120120Missing in isoform 2.
VSP_040987
Natural variant161V → A in a colorectal cancer sample; somatic mutation. Ref.9
VAR_036066
Natural variant511A → T in a colorectal cancer sample; somatic mutation. Ref.9
VAR_036067
Natural variant1181G → C in CPX. Ref.2
VAR_015383
Natural variant1211M → V in CPX. Ref.8
VAR_021831
Natural variant1831P → L in CPX. Ref.8
VAR_021832
Natural variant1871E → K. Ref.8
Corresponds to variant rs34244923 [ dbSNP | Ensembl ].
VAR_021833
Natural variant1951S → SS in CPX. Ref.7
VAR_069900
Natural variant2141L → P in CPX. Ref.7
VAR_021829
Natural variant2491F → Y. Ref.10
VAR_069416
Natural variant2601T → M in CPX. Ref.2
VAR_015384
Natural variant2641N → Y in CPX. Ref.8
Corresponds to variant rs28935177 [ dbSNP | Ensembl ].
VAR_021830
Natural variant3071D → N in a colorectal cancer sample; somatic mutation. Ref.9
VAR_036068

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 12, 2003. Version 3.
Checksum: 1502E19245CC2C93

FASTA52057,910
        10         20         30         40         50         60 
MALSSRARAF SVEALVGRPS KRKLQDPIQA EQPELREKKG GEEEEERRSS AAGKSEPLEK 

        70         80         90        100        110        120 
QPKTEPSTSA SSGCGSDSGY GNSSESLEEK DIQMELQGSE LWKRFHDIGT EMIITKAGRR 

       130        140        150        160        170        180 
MFPSVRVKVK GLDPGKQYHV AIDVVPVDSK RYRYVYHSSQ WMVAGNTDHL CIIPRFYVHP 

       190        200        210        220        230        240 
DSPCSGETWM RQIISFDRMK LTNNEMDDKG HIILQSMHKY KPRVHVIEQG SSVDLSQIQS 

       250        260        270        280        290        300 
LPTEGVKTFS FKETEFTTVT AYQNQQITKL KIERNPFAKG FRDTGRNRGV LDGLLETYPW 

       310        320        330        340        350        360 
RPSFTLDFKT FGADTQSGSS GSSPVTSSGG APSPLNSLLS PLCFSPMFHL PTSSLGMPCP 

       370        380        390        400        410        420 
EAYLPNVNLP LCYKICPTNF WQQQPLVLPA PERLASSNSS QSLAPLMMEV PMLSSLGVTN 

       430        440        450        460        470        480 
SKSGSSEDSS DQYLQAPNST NQMLYGLQSP GNIFLPNSIT PEALSCSFHP SYDFYRYNFS 

       490        500        510        520 
MPSRLISGSN HLKVNDDSQV SFGEGKCNHV HWYPAINHYL 

« Hide

Isoform 2 [UniParc].

Checksum: C06B60DADD29E6C3
Show »

FASTA40044,718

References

« Hide 'large scale' references
[1]"Molecular characterization of a new human T-box gene (TBX22) located in Xq21.1 encoding a protein containing a truncated T-domain."
Laugier-Anfossi F., Villard L.
Gene 255:289-296(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[2]"The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia."
Braybrook C., Doudney K., Marcano A.C., Arnason A., Bjornsson A., Patton M.A., Goodfellow P.J., Moore G.E., Stanier P.
Nat. Genet. 29:179-183(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANTS CPX CYS-118 AND MET-260.
[3]"The DNA sequence of the human X chromosome."
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. expand/collapse author list , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Skin.
[6]"X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations."
Pauws E., Peskett E., Boissin C., Hoshino A., Mengrelis K., Carta E., Abruzzo M.A., Lees M., Moore G.E., Erickson R.P., Stanier P.
Clin. Genet. 83:352-358(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN ABERS.
[7]"Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients."
Braybrook C., Lisgo S., Doudney K., Henderson D., Marcano A.C.B., Strachan T., Patton M.A., Villard L., Moore G.E., Stanier P., Lindsay S.
Hum. Mol. Genet. 11:2793-2804(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CPX SER-195 INS AND PRO-214.
[8]"TBX22 mutations are a frequent cause of cleft palate."
Marcano A.C.B., Doudney K., Braybrook C., Squires R., Patton M.A., Lees M.M., Richieri-Costa A., Lidral A.C., Murray J.C., Moore G.E., Stanier P.
J. Med. Genet. 41:68-74(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CPX VAL-121; LEU-183 AND TYR-264, VARIANT LYS-187.
[9]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] ALA-16; THR-51 AND ASN-307.
[10]"Diagnostic exome sequencing in persons with severe intellectual disability."
de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G., Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C., del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G., Veltman J.A., Vissers L.E.
N. Engl. J. Med. 367:1921-1929(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT TYR-249.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY035371 mRNA. Translation: AAK63189.1.
AL031000 Genomic DNA. Translation: CAI43069.1.
AL031000 Genomic DNA. Translation: CAI43070.1.
CH471104 Genomic DNA. Translation: EAW98588.1.
BC014194 mRNA. Translation: AAH14194.2.
AF251684 mRNA. Translation: AAG23749.1.
CCDSCCDS14445.1. [Q9Y458-1]
CCDS43975.1. [Q9Y458-2]
RefSeqNP_001103348.1. NM_001109878.1. [Q9Y458-1]
NP_001103349.1. NM_001109879.1. [Q9Y458-2]
NP_058650.1. NM_016954.2. [Q9Y458-1]
XP_005262195.1. XM_005262138.2. [Q9Y458-1]
XP_006725483.1. XM_006725420.1. [Q9Y458-1]
UniGeneHs.374253.

3D structure databases

ProteinModelPortalQ9Y458.
SMRQ9Y458. Positions 92-283.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119172. 2 interactions.
IntActQ9Y458. 1 interaction.
STRING9606.ENSP00000362390.

PTM databases

PhosphoSiteQ9Y458.

Polymorphism databases

DMDM28381405.

Proteomic databases

PaxDbQ9Y458.
PRIDEQ9Y458.

Protocols and materials databases

DNASU50945.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000373291; ENSP00000362388; ENSG00000122145. [Q9Y458-2]
ENST00000373294; ENSP00000362390; ENSG00000122145. [Q9Y458-1]
ENST00000373296; ENSP00000362393; ENSG00000122145. [Q9Y458-1]
ENST00000442340; ENSP00000396394; ENSG00000122145. [Q9Y458-2]
GeneID50945.
KEGGhsa:50945.
UCSCuc004edi.1. human. [Q9Y458-1]

Organism-specific databases

CTD50945.
GeneCardsGC0XP079270.
HGNCHGNC:11600. TBX22.
HPAHPA003105.
MIM300307. gene.
302905. phenotype.
303400. phenotype.
neXtProtNX_Q9Y458.
Orphanet921. Abruzzo-Erickson syndrome.
324601. X-linked cleft palate and ankyloglossia.
PharmGKBPA36363.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG263167.
HOGENOMHOG000039966.
HOVERGENHBG055831.
InParanoidQ9Y458.
KOK10186.
OMALETYPWR.
OrthoDBEOG7GN2PM.
PhylomeDBQ9Y458.
TreeFamTF106341.

Gene expression databases

BgeeQ9Y458.
CleanExHS_TBX22.
GenevestigatorQ9Y458.

Family and domain databases

Gene3D2.60.40.820. 1 hit.
InterProIPR008967. p53-like_TF_DNA-bd.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERPTHR11267. PTHR11267. 1 hit.
PfamPF00907. T-box. 1 hit.
[Graphical view]
PRINTSPR00937. TBOX.
SMARTSM00425. TBOX. 1 hit.
[Graphical view]
SUPFAMSSF49417. SSF49417. 1 hit.
PROSITEPS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiTBX22.
GenomeRNAi50945.
NextBio53413.
PROQ9Y458.
SOURCESearch...

Entry information

Entry nameTBX22_HUMAN
AccessionPrimary (citable) accession number: Q9Y458
Secondary accession number(s): Q5JZ06, Q96LC0, Q9HBF1
Entry history
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: February 12, 2003
Last modified: July 9, 2014
This is version 127 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM