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Q9Y458

- TBX22_HUMAN

UniProt

Q9Y458 - TBX22_HUMAN

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Protein

T-box transcription factor TBX22

Gene

TBX22

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi96 – 283188T-boxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: BHF-UCL
  2. sequence-specific DNA binding transcription factor activity Source: UniProtKB

GO - Biological processi

  1. multicellular organismal development Source: UniProtKB
  2. negative regulation of transcription, DNA-templated Source: BHF-UCL
  3. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  4. regulation of transcription, DNA-templated Source: UniProtKB
  5. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:11600. TBX22.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti118 – 1181G → C in CPX. 1 Publication
VAR_015383
Natural varianti121 – 1211M → V in CPX. 1 Publication
VAR_021831
Natural varianti183 – 1831P → L in CPX. 1 Publication
VAR_021832
Natural varianti195 – 1951S → SS in CPX. 1 Publication
VAR_069900
Natural varianti214 – 2141L → P in CPX. 1 Publication
VAR_021829
Natural varianti260 – 2601T → M in CPX. 1 Publication
VAR_015384
Natural varianti264 – 2641N → Y in CPX. 1 Publication
Corresponds to variant rs28935177 [ dbSNP | Ensembl ].
VAR_021830
Abruzzo-Erickson syndrome (ABERS) [MIM:302905]: A disease characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Deafness, Disease mutation, Dwarfism

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 520520T-box transcription factor TBX22PRO_0000184455Add
BLAST

Proteomic databases

PaxDbiQ9Y458.
PRIDEiQ9Y458.

PTM databases

PhosphoSiteiQ9Y458.

Expressioni

Tissue specificityi

Seems to be expressed at a low level.

Gene expression databases

BgeeiQ9Y458.
CleanExiHS_TBX22.
ExpressionAtlasiQ9Y458. baseline.
GenevestigatoriQ9Y458.

Organism-specific databases

HPAiHPA003105.

Interactioni

Protein-protein interaction databases

BioGridi119172. 2 interactions.
IntActiQ9Y458. 3 interactions.
STRINGi9606.ENSP00000362390.

Structurei

3D structure databases

ProteinModelPortaliQ9Y458.
SMRiQ9Y458. Positions 92-283.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Contains 1 T-box DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG263167.
GeneTreeiENSGT00760000118897.
HOGENOMiHOG000039966.
HOVERGENiHBG055831.
InParanoidiQ9Y458.
KOiK10186.
OMAiLETYPWR.
OrthoDBiEOG7GN2PM.
PhylomeDBiQ9Y458.
TreeFamiTF106341.

Family and domain databases

Gene3Di2.60.40.820. 1 hit.
InterProiIPR008967. p53-like_TF_DNA-bd.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERiPTHR11267. PTHR11267. 1 hit.
PfamiPF00907. T-box. 1 hit.
[Graphical view]
PRINTSiPR00937. TBOX.
SMARTiSM00425. TBOX. 1 hit.
[Graphical view]
SUPFAMiSSF49417. SSF49417. 1 hit.
PROSITEiPS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161V → A in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036066
Natural varianti51 – 511A → T in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036067
Natural varianti118 – 1181G → C in CPX. 1 Publication
VAR_015383
Natural varianti121 – 1211M → V in CPX. 1 Publication
VAR_021831
Natural varianti183 – 1831P → L in CPX. 1 Publication
VAR_021832
Natural varianti187 – 1871E → K.1 Publication
Corresponds to variant rs34244923 [ dbSNP | Ensembl ].
VAR_021833
Natural varianti195 – 1951S → SS in CPX. 1 Publication
VAR_069900
Natural varianti214 – 2141L → P in CPX. 1 Publication
VAR_021829
Natural varianti249 – 2491F → Y.1 Publication
VAR_069416
Natural varianti260 – 2601T → M in CPX. 1 Publication
VAR_015384
Natural varianti264 – 2641N → Y in CPX. 1 Publication
Corresponds to variant rs28935177 [ dbSNP | Ensembl ].
VAR_021830
Natural varianti307 – 3071D → N in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036068

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 120120Missing in isoform 2. 1 PublicationVSP_040987Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS14445.1. [Q9Y458-1]
CCDS43975.1. [Q9Y458-2]
RefSeqiNP_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]
UniGeneiHs.374253.

Genome annotation databases

EnsembliENST00000373291; ENSP00000362388; ENSG00000122145. [Q9Y458-2]
ENST00000373294; ENSP00000362390; ENSG00000122145. [Q9Y458-1]
ENST00000373296; ENSP00000362393; ENSG00000122145. [Q9Y458-1]
ENST00000619509; ENSP00000479825; ENSG00000277800. [Q9Y458-1]
GeneIDi50945.
KEGGihsa:50945.
UCSCiuc004edi.1. human. [Q9Y458-1]

Polymorphism databases

DMDMi28381405.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS14445.1. [Q9Y458-1 ]
CCDS43975.1. [Q9Y458-2 ]
RefSeqi NP_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 ]
UniGenei Hs.374253.

3D structure databases

ProteinModelPortali Q9Y458.
SMRi Q9Y458. Positions 92-283.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119172. 2 interactions.
IntActi Q9Y458. 3 interactions.
STRINGi 9606.ENSP00000362390.

PTM databases

PhosphoSitei Q9Y458.

Polymorphism databases

DMDMi 28381405.

Proteomic databases

PaxDbi Q9Y458.
PRIDEi Q9Y458.

Protocols and materials databases

DNASUi 50945.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000373291 ; ENSP00000362388 ; ENSG00000122145 . [Q9Y458-2 ]
ENST00000373294 ; ENSP00000362390 ; ENSG00000122145 . [Q9Y458-1 ]
ENST00000373296 ; ENSP00000362393 ; ENSG00000122145 . [Q9Y458-1 ]
ENST00000619509 ; ENSP00000479825 ; ENSG00000277800 . [Q9Y458-1 ]
GeneIDi 50945.
KEGGi hsa:50945.
UCSCi uc004edi.1. human. [Q9Y458-1 ]

Organism-specific databases

CTDi 50945.
GeneCardsi GC0XP079270.
HGNCi HGNC:11600. TBX22.
HPAi HPA003105.
MIMi 300307. gene.
302905. phenotype.
303400. phenotype.
neXtProti NX_Q9Y458.
Orphaneti 921. Abruzzo-Erickson syndrome.
324601. X-linked cleft palate and ankyloglossia.
PharmGKBi PA36363.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG263167.
GeneTreei ENSGT00760000118897.
HOGENOMi HOG000039966.
HOVERGENi HBG055831.
InParanoidi Q9Y458.
KOi K10186.
OMAi LETYPWR.
OrthoDBi EOG7GN2PM.
PhylomeDBi Q9Y458.
TreeFami TF106341.

Miscellaneous databases

GeneWikii TBX22.
GenomeRNAii 50945.
NextBioi 53413.
PROi Q9Y458.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y458.
CleanExi HS_TBX22.
ExpressionAtlasi Q9Y458. baseline.
Genevestigatori Q9Y458.

Family and domain databases

Gene3Di 2.60.40.820. 1 hit.
InterProi IPR008967. p53-like_TF_DNA-bd.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view ]
PANTHERi PTHR11267. PTHR11267. 1 hit.
Pfami PF00907. T-box. 1 hit.
[Graphical view ]
PRINTSi PR00937. TBOX.
SMARTi SM00425. TBOX. 1 hit.
[Graphical view ]
SUPFAMi SSF49417. SSF49417. 1 hit.
PROSITEi PS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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. Cited for: VARIANTS CPX VAL-121; LEU-183 AND TYR-264, VARIANT LYS-187.
  9. Cited for: VARIANTS [LARGE SCALE ANALYSIS] ALA-16; THR-51 AND ASN-307.
  10. Cited for: VARIANT TYR-249.

Entry informationi

Entry nameiTBX22_HUMAN
AccessioniPrimary (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: November 26, 2014
This is version 130 of the entry and version 3 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3