Gata6

Mus musculus

PHENOTYPE: Homozygous null mutant E5.5 embryos lack parts of the visceral endoderm, show impaired embryonic ectoderm development, and die soon post-implantation, apparently of extraembryonic tissue defects. [provided by MGI curators]

eat-5

Caenorhabditis elegans

Predicted to enable gap junction hemi-channel activity. Predicted to be involved in monoatomic ion transmembrane transport. Predicted to be located in gap junction and plasma membrane. Expressed in K' cell and pharynx.

Krt5

Mus musculus

PHENOTYPE: Mice homozygous for disruptions in this gene die within the first hour after birth. They have a loose, fragile epidermal layer and abnormal epithelium in parts of the digestive tract. [provided by MGI curators]

Rgsc713

Mus musculus

PHENOTYPE: Mice with a mutation of this gene lack pigmentation of the distal parts of their feet and of their tail tips. Some mutant mice also have a white belly spot. [provided by MGI curators]

Vit

Homo sapiens

This gene encodes an extracellular matrix (ECM) protein. The protein may be associated with cell adhesion and migration. High levels of expression of the protein in specific parts of the brain suggest its likely role in neural development. [provided by RefSeq, Jun 2016]

Nup98-96

Drosophila melanogaster

Nucleoporin 98-96kD (Nup98-96) encodes a precursor protein that is cleaved into Nup98 and Nup96 proteins, two integral parts of the nuclear pore. In the male gonad, loss of Nup98-96 function results in premature differentiation of germ line cells at the expense of proliferation.

Eml4

Homo sapiens

This gene is a member of the echinoderm microtubule associated protein-like family. The encoded WD-repeat protein may be involved in microtubule formation. Abnormal fusion of parts of this gene with portions of the anaplastic lymphoma receptor tyrosine kinase gene, which generates EML4-ALK fusion transcripts, is one of the primary mutations associated with non-small cell lung cancer. Alternative splicing of this gene results in two transcript variants. [provided by RefSeq, Jan 2015]

egl-27

Caenorhabditis elegans

Enables RNA polymerase II-specific DNA-binding transcription factor binding activity; chromatin binding activity; and enzyme binding activity. Involved in several processes, including egg-laying behavior; hemidesmosome assembly; and nematode male tail tip morphogenesis. Located in nucleus. Expressed in several structures, including Y cell; intestinal cell; neurons; pharynx; and somatic gonad precursor. Human ortholog(s) of this gene implicated in dentatorubral-pallidoluysian atrophy and schizophrenia. Is an ortholog of human RERE (arginine-glutamic acid dipeptide repeats).

Letm1

Homo sapiens

This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009]

Napsa

Homo sapiens

This gene encodes a member of the peptidase A1 family of aspartic proteases. The encoded preproprotein is proteolytically processed to generate an activation peptide and the mature protease. The activation peptides of aspartic proteinases function as inhibitors of the protease active site. These peptide segments, or pro-parts, are deemed important for correct folding, targeting, and control of the activation of aspartic proteinase zymogens. The encoded protease may play a role in the proteolytic processing of pulmonary surfactant protein B in the lung and may function in protein catabolism in the renal proximal tubules. This gene has been described as a marker for lung adenocarcinoma and renal cell carcinoma. [provided by RefSeq, Feb 2016]