Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the
critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a
developmental disorder characterized by conotruncal heart defects,
craniofacial anomalies, and learning disabilities. VCFS is phenotypically
related to DiGeorge syndrome (DGS) and both syndromes are associated with
hemizygous 22q11 deletions. Because many of the tissues and structures
affected in VCFS/DGS derive from the pharyngeal arches of the developing
embryo, it is believed that haploinsufficiency of a gene involved in
embryonic development may be responsible for its etiology. The gene is
expressed in a limited number of adult tissues, as well as in early human
development. [provided by RefSeq, Jul 2008]
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:0003700 sequence-specific DNA binding transcription factor activity IDA - PMID:9700206
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