The Human Transcription Factors

Conclusion

Assessment	Binding Mode	Motif Status	Notes	Comments
Known motif	1 Monomer or homomultimer	High-throughput in vitro

Description

Description:

T-box 18 [Source:HGNC Symbol;Acc:HGNC:11595]

Entrez Summary

This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012]

Ensembl ID:

ENSG00000112837

External Link:

CisBP

Interpro

IPR001699; IPR008967; IPR018186; ;

Protein Domain:

ENSP00000358677

Protein Domain:

ENSP00000475873

Protein Domain:

ENSP00000476137

Protein Domain:

ENSP00000475498

Domain:

Protein: ENSP00000358677	DBD: T-box	Other:
Protein: ENSP00000475873	DBD: T-box	Other:
Protein: ENSP00000476137	DBD: T-box	Other:
Protein: ENSP00000475498	DBD: T-box	Other:

Previous Annotations

Source	Annotation
TF-CAT classification	Indeterminate - There is no evidence for or against this genes role as a TF___ PMIDS:0
Vaquerizas 2009 TF classification "a" Has direct evidence of TF function; "b" Has evidence for an orthologous TF; "c" contains likely DBDs, but has no functional evidence; "x" is an unlikely TF such as predicted gene, genes with likely non-specific DBDs or that have function outside transcription; "other" category contains proteins without clear DBDs they curated from external sources.	b
CisBP considers it as a TF?	Yes
TFclass considers it as a TF?	Yes
Has GO:0003700 "transcription factor activity, sequence-specific DNA binding"	No
GO-Info	GO:0003700 sequence-specific DNA binding transcription factor activity IEA - GO_REF:0000002
Initial Assessment 1a1 Protein has a high confidence PWM (HT-SELEX, PBM or B1H model) or there is a crystal structure that supports sequence specific DNA binding; 1a2 There is high confidence data for a close ortholog (as defined in CisBP); 2a1 There is lower confidence direct evidence, such as a Jaspar, Hocomoco or Transfac model; 2a2 There is lower confidence evidence for an close ortholog; 3a There is decent circumstantial evidence for its role as a TF or not; 4a Two or more datasets predict it as a TF; 5a One of the source datasets predicts is as a TF	1a1, Direct HQ evidence
TF has conditional DNA-binding requirements

DNA-Binding

Published Motif Data

Source	Annotation	Motif	Evidence
HT-SELEX	Yin2017		Direct
Methyl-HT-SELEX	Yin2017		Direct
Transfac	Transfac	License required	Direct
HT-SELEX	Yin2017		Inferred - TBX15 (91% AA Identity, Homo sapiens)
Methyl-HT-SELEX	Yin2017		Inferred - TBX15 (91% AA Identity, Homo sapiens)
Transfac	Transfac	License required	Inferred - TBX15 (91% AA Identity, Homo sapiens)
Transfac	Transfac	License required	Inferred - TBX15 (91% AA Identity, Homo sapiens)
Transfac	Transfac	License required	Inferred - ENSG00000277800 (72% AA Identity, Homo sapiens)
HT-SELEX	Yin2017		Inferred - TBX20 (61% AA Identity, Homo sapiens)
HT-SELEX	Yin2017		Inferred - TBX20 (61% AA Identity, Homo sapiens)
HT-SELEX	Yin2017		Inferred - TBX20 (61% AA Identity, Homo sapiens)
HT-SELEX	Yin2017		Inferred - TBX20 (61% AA Identity, Homo sapiens)
Methyl-HT-SELEX	Yin2017		Inferred - TBX20 (61% AA Identity, Homo sapiens)
Methyl-HT-SELEX	Yin2017		Inferred - TBX20 (61% AA Identity, Homo sapiens)
Methyl-HT-SELEX	Yin2017		Inferred - TBX20 (61% AA Identity, Homo sapiens)
Methyl-HT-SELEX	Yin2017		Inferred - TBX20 (61% AA Identity, Homo sapiens)
PBM	DREAM_contest		Inferred - Tbx20 (61% AA Identity, Mus musculus)
Transfac	Transfac	License required	Inferred - Tbx20 (61% AA Identity, Mus musculus)
Misc	HOMER		Inferred - Tbx20 (61% AA Identity, Mus musculus)

Structure

Structure	PDB	Not_Covered

Experimental History

Method	Constructs
Tried in PBM? (Whether the protein was tried in PBM or not)
Tried in HT-SELEX (Whether the protein was tried in HT-SELEX or not, and if so, then what kind of clones were tested)
Other Information? (Tried with another method and failed?)

External Contribution

Name
Email
Comment
Reference

{"regions": [{"startStyle": "curved", "end": 330, "endStyle": "curved", "aliStart": 141, "text": "T-box", "colour": "#009900", "aliEnd": 330, "start": 141, "href": "http://pfam.xfam.org/family/PF00907.20", "type": "pfama", "display": "true", "metadata": {"end": 330, "description": "The T-box encodes a 180 amino acid domain that binds to DNA. Genes encoding T-box proteins are found in a wide range of animals, but not in other kingdoms such as plants. Family members are all thought to bind to the DNA consensus sequence TCACACCT. they are found exclusively in the nucleus, and perform DNA-binding and transcriptional activation/repression roles. They are generally required for development of the specific tissues they are expressed in, and mutations in T-box genes are implicated in human conditions such as DiGeorge syndrome and X-linked cleft palate, which feature malformations [2].", "database": "PfamA", "aliStart": 141, "scoreName": "E-value", "accession": "PF00907.20", "start": 141, "score": 4.7e-80, "identifier": "T-box", "type": "DBD", "aliEnd": 330}}], "length": 608}

{"regions": [{"startStyle": "jagged", "end": 172, "endStyle": "curved", "aliStart": 1, "text": "T-box", "colour": "#009900", "aliEnd": 172, "start": 1, "href": "http://pfam.xfam.org/family/PF00907.20", "type": "pfama", "display": "true", "metadata": {"end": 172, "description": "The T-box encodes a 180 amino acid domain that binds to DNA. Genes encoding T-box proteins are found in a wide range of animals, but not in other kingdoms such as plants. Family members are all thought to bind to the DNA consensus sequence TCACACCT. they are found exclusively in the nucleus, and perform DNA-binding and transcriptional activation/repression roles. They are generally required for development of the specific tissues they are expressed in, and mutations in T-box genes are implicated in human conditions such as DiGeorge syndrome and X-linked cleft palate, which feature malformations [2].", "database": "PfamA", "aliStart": 1, "scoreName": "E-value", "accession": "PF00907.20", "start": 1, "score": 5.299999999999999e-71, "identifier": "T-box", "type": "DBD", "aliEnd": 172}}], "length": 233}

{"regions": [{"startStyle": "jagged", "end": 32, "endStyle": "jagged", "aliStart": 1, "text": "T-box", "colour": "#009900", "aliEnd": 32, "start": 1, "href": "http://pfam.xfam.org/family/PF00907.20", "type": "pfama", "display": "true", "metadata": {"end": 32, "description": "The T-box encodes a 180 amino acid domain that binds to DNA. Genes encoding T-box proteins are found in a wide range of animals, but not in other kingdoms such as plants. Family members are all thought to bind to the DNA consensus sequence TCACACCT. they are found exclusively in the nucleus, and perform DNA-binding and transcriptional activation/repression roles. They are generally required for development of the specific tissues they are expressed in, and mutations in T-box genes are implicated in human conditions such as DiGeorge syndrome and X-linked cleft palate, which feature malformations [2].", "database": "PfamA", "aliStart": 1, "scoreName": "E-value", "accession": "PF00907.20", "start": 1, "score": 4.9e-12, "identifier": "T-box", "type": "DBD", "aliEnd": 32}}], "length": 32}

{"regions": [{"startStyle": "jagged", "end": 172, "endStyle": "curved", "aliStart": 1, "text": "T-box", "colour": "#009900", "aliEnd": 172, "start": 1, "href": "http://pfam.xfam.org/family/PF00907.20", "type": "pfama", "display": "true", "metadata": {"end": 172, "description": "The T-box encodes a 180 amino acid domain that binds to DNA. Genes encoding T-box proteins are found in a wide range of animals, but not in other kingdoms such as plants. Family members are all thought to bind to the DNA consensus sequence TCACACCT. they are found exclusively in the nucleus, and perform DNA-binding and transcriptional activation/repression roles. They are generally required for development of the specific tissues they are expressed in, and mutations in T-box genes are implicated in human conditions such as DiGeorge syndrome and X-linked cleft palate, which feature malformations [2].", "database": "PfamA", "aliStart": 1, "scoreName": "E-value", "accession": "PF00907.20", "start": 1, "score": 2.0999999999999997e-71, "identifier": "T-box", "type": "DBD", "aliEnd": 172}}], "length": 176}

TF Info Page for TBX18 (T-box)

Conclusion

Description

Previous Annotations

DNA-Binding

Published Motif Data

Structure

Experimental History

External Contribution