InnateDB Protein
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IDBP-78134.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TBX22
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Protein Name
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T-box 22
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000362390
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InnateDB Gene
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IDBG-78130 (TBX22)
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Protein Structure
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Function |
Probable transcriptional regulator involved in developmental processes. This is major determinant crucial to palatogenesis.
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Subcellular Localization |
Nucleus {ECO:0000255PROSITE- ProRule:PRU00201}.
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Disease Associations |
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. {ECO:0000269PubMed:11559848, ECO:0000269PubMed:12374769, ECO:0000269PubMed:14729838}. Note=The disease is caused by mutations affecting the gene represented in this entry.Abruzzo-Erickson syndrome (ABERS) [MIM:302905]: A disease characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis. {ECO:0000269PubMed:22784330}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Seems to be expressed at a low level.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
3
[view]
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Protein-Protein |
3
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0003677
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DNA binding
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GO:0003700
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sequence-specific DNA binding transcription factor activity
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Biological Process |
GO:0000122
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negative regulation of transcription from RNA polymerase II promoter
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GO:0006351
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transcription, DNA-templated
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GO:0006355
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regulation of transcription, DNA-templated
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GO:0007275
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multicellular organismal development
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GO:0045892
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negative regulation of transcription, DNA-templated
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Cellular Component |
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PDB ID |
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InterPro |
IPR001699
Transcription factor, T-box
IPR008967
p53-like transcription factor, DNA-binding
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PFAM |
PF00907
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PRINTS |
PR00937
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PIRSF |
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SMART |
SM00425
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TIGRFAMs |
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Modification |
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SwissProt |
Q9Y458
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PhosphoSite |
PhosphoSite-Q9Y458
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TrEMBL |
C3TX51
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UniProt Splice Variant |
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Entrez Gene |
50945
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UniGene |
Hs.374253
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RefSeq |
NP_058650
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HUGO |
HGNC:11600
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OMIM |
300307
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CCDS |
CCDS14445
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HPRD |
02253
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IMGT |
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EMBL |
AF251684
AL031000
AY035371
BC014194
CH471104
FJ228481
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GenPept |
AAG23749
AAH14194
AAK63189
ACP42194
CAI43069
CAI43070
EAW98588
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