GATA5 gene

GATA binding protein 5

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a transcription factor that contains two GATA-type zinc fingers. The encoded protein is known to bind to hepatocyte nuclear factor-1alpha (HNF-1alpha), and this interaction is essential for cooperative activation of the intestinal lactase-phlorizin hydrolase promoter. In other organisms, similar proteins may be involved in the establishment of cardiac smooth muscle cell diversity. [provided by RefSeq, Jul 2008]

From UniProt:

Transcription factor required during cardiovascular development (PubMed:23289003). Plays an important role in the transcriptional program(s) that underlies smooth muscle cell diversity (By similarity). Binds to the functionally important CEF-1 nuclear protein binding site in the cardiac-specific slow/cardiac troponin C transcriptional enhancer (PubMed:25543888).

From NCBI Gene:

  • CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5

From UniProt:

Congenital heart defects, multiple types, 5 (CHTD5): A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, patent ductus arteriosus, and tetralogy of Fallot. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. CHTD5 inheritance can be autosomal dominant or recessive. [MIM:617912]

Cytogenetic Location: 20q13.33, which is the long (q) arm of chromosome 20 at position 13.33

Molecular Location: base pairs 62,463,497 to 62,475,970 on chromosome 20 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 20q13.33, which is the long (q) arm of chromosome 20 at position 13.33
  • bB379O24.1
  • CHTD5
  • GATAS