runt related transcription factor 2 [Source:HGNC Symbol;Acc:HGNC:10472]
Entrez Summary
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This gene is a member of the RUNX family of transcription factors
and encodes a nuclear protein with an Runt DNA-binding domain. This protein
is essential for osteoblastic differentiation and skeletal morphogenesis and
acts as a scaffold for nucleic acids and regulatory factors involved in
skeletal gene expression. The protein can bind DNA both as a monomer or, with
more affinity, as a subunit of a heterodimeric complex. Two regions of
potential trinucleotide repeat expansions are present in the N-terminal
region of the encoded protein, and these and other mutations in this gene
have been associated with the bone development disorder cleidocranial
dysplasia (CCD). Transcript variants that encode different protein isoforms
result from the use of alternate promoters as well as alternate splicing.
[provided by RefSeq, Jul 2016]
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:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity IBA - GO_REF:0000033 GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor a IEA - GO_REF:0000019 GO:0003700 sequence-specific DNA binding transcription factor activity NAS - PMID:9182765
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