Assessment | Binding Mode | Motif Status | Notes | Comments |
---|---|---|---|---|
Known motif | 1 Monomer or homomultimer | High-throughput in vitro |
Description: | NK2 homeobox 5 [Source:HGNC Symbol;Acc:HGNC:2488] | ||||||||||||
Entrez Summary | #!usr/local/bin/perl ?> This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] | ||||||||||||
Ensembl ID: | ENSG00000183072 | ||||||||||||
External Link: | CisBP | ||||||||||||
Interpro | IPR001356; IPR009057; IPR017970; IPR020479; | ||||||||||||
Protein Domain: | ENSP00000327758 | ||||||||||||
Protein Domain: | ENSP00000395378 | ||||||||||||
Protein Domain: | ENSP00000427906 | ||||||||||||
Protein Domain: | ENSP00000429905 | ||||||||||||
Domain: |
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Source | Annotation |
TF-CAT classification |
TF Gene_DNA-Binding sequence-specific_DNA Binding TF PPI Transactivation_ PMIDS:9584181 10318839 |
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. |
a |
CisBP considers it as a TF? | Yes |
TFclass considers it as a TF? | Yes |
Has GO:0003700 "transcription factor activity, sequence-specific DNA binding" | Yes |
GO-Info |
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor a IMP - PMID:15649947 GO:0001228 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor IDA - PMID:19578358 GO:0003700 sequence-specific DNA binding transcription factor activity IDA - PMID:10948187, PMID:11431700, PMID:9312027, GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IEA - GO_REF:0000019 |
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 |