UniProt ID: B0BF33 |
FUNCTION: Required for development of the heart, potentially via cell- cell adhesion and modulation of expression of cardiac precursor genes (PubMed:23124967). Plays a role in desmosome cell-cell junctions and their intracellular connectivity (PubMed:23124967). {ECO:0000269|PubMed:23124967}. SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q99959}. Cell junction, desmosome {ECO:0000250|UniProtKB:Q99959}. Cell junction {ECO:0000250|UniProtKB:Q99959}. Cytoplasm {ECO:0000250|UniProtKB:Q99959}. DEVELOPMENTAL STAGE: Expressed in the epidermis from 2 hours post- fertilization (hpf) to 16 hpf (PubMed:18164260). Expression is then restricted to the anterior of the embryo, in particular epidermal tissues of the neural structures at 24 hpf to 72 hpf (PubMed:18164260). Expressed in the heart, tissue ventral to the head and yolk at 48 hpf (PubMed:18164260). {ECO:0000269|PubMed:18164260}. DISRUPTION PHENOTYPE: Morpholino knockdown results in a range of cardiac phenotype severity from mild to severely affected (PubMed:23124967). Defects include slight to severe cardiac edema, blood pooling on the yolk, abnormal ventricles, heartstring and failure of cardiac looping (PubMed:23124967). Heart rate is decreased at 48 hours post-fertilization (48 hpf) from 138 beats per minute (bpm) to 110 (bpm), this decrease persists at 72 hpf (PubMed:23124967). Non- cardiac effects include kinked tail and disruption to the borders of anterior neural structures (PubMed:23124967). At 16 hpf abnormal expression and/or localization of cardiac precursor markers such as nkx2.5, lefty2, bmp4, spaw, lefty1 and tdgf1/oep (PubMed:23124967). Incomplete looping of the heart with displaced ventricle along the midline, above an enlarged atrium (PubMed:23124967). Expression of cardiac valve developmental proteins notch1b and bmp4 are abnormally expanded into the ventricle at 48 hpf (PubMed:23124967). The number of desmosomes is decreased at cell borders in the heart but those that are present show diminished intracellular elements and an increase in the intercellular gap width at 72 hpf (PubMed:23124967). {ECO:0000269|PubMed:23124967}. SIMILARITY: Belongs to the beta-catenin family. {ECO:0000305}. |
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