Pbrm1

Mus musculus

PHENOTYPE: Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta. [provided by MGI curators]

Jupiter

Drosophila melanogaster

Jupiter (Jupiter) encodes a microtubule-associated protein. Jupiter-labeled microtubules move through the nurse cell-oocyte ring canals in stage 9 egg chambers.

Hbegf

Mus musculus

PHENOTYPE: Homozygotes for targeted null mutations exhibit grossly enlarged heart valves and ventricular chambers, and hypoplastic, immature lungs. Most mutants die by 3 weeks of age. Conditional deletion specifically in thge ventral forebrain results in behavior abnormalities and defects in pyramidal neurons. [provided by MGI curators]

Capns1

Mus musculus

PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality around E11.5. Mutant embryos exhibit cardiac developmental defects, reduced yolk sac vasculature, hemorrhaging in the area between the embryo and amnion, and accumulation of nucleated erythroid cells in the heart chambers, blood vessels, and developing liver. [provided by MGI curators]

chb

Drosophila melanogaster

chromosome bows (chb) encodes a microtubule plus-end tracking protein that promotes stabilization of microtubule dynamics. It is required for several mitotic aspects such as kinetochore attachment and central spindle formation. chb product is also essential for construction of polarized microtubule network in egg chambers and fusome formation in spermatogenesis and oogenesis.

Aebp2

Rattus norvegicus

Predicted to enable transcription coregulator activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of DNA-templated transcription. Predicted to be located in nucleoplasm. Predicted to be part of ESC/E(Z) complex. Orthologous to human AEBP2 (AE binding protein 2); PARTICIPATES IN histone modification pathway; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,4-dinitrotoluene; 3,3',5,5'-tetrabromobisphenol A.

Aebp1

Rattus norvegicus

Predicted to enable several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; collagen binding activity; and metallocarboxypeptidase activity. Predicted to be involved in several processes, including negative regulation of transcription by RNA polymerase II; protein processing; and regulation of collagen fibril organization. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome classic-like 2. Orthologous to human AEBP1 (AE binding protein 1); INTERACTS WITH 1,2-dimethylhydrazine; 17alpha-ethynylestradiol; 17beta-estradiol.

Hand2

Homo sapiens

The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. [provided by RefSeq, Jul 2008]

Hand1

Homo sapiens

The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008]

Slc4a1

Homo sapiens

The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008]