- dmrt11E [Search on AGR]
Drosophila melanogaster doublesex-Mab related 11E (dmrt11E) encodes a transcription factor-like protein containing a highly conserved DNA-binding DM domain that plays a critical role in sex determination and spermatogenesis.
- Dmrt1 [Search on AGR]
Homo sapiens This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008]
- mab-23 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable metal ion binding activity and sequence-specific DNA binding activity. Involved in several processes, including neuron fate determination; regulation of male mating behavior; and regulation of nematode male tail tip morphogenesis. Located in nucleus. Expressed in several structures, including U cell; hermaphrodite gonad; neurons; tail hypodermis; and ventral nerve cord.
- Vps13 [Search on AGR]
Saccharomyces cerevisiae Lipid transport protein; involved in vacuolar protein sorting, protein retention in the Golgi, prospore membrane formation and sporulation; required for mitochondrial integrity and ER packaging into autophagosomes during cortical reticulophagy; peripheral membrane protein found at the prospore membrane and at membrane contact sites; contains a PH-like domain; homologous to human CHAC and COH1, involved in Chorea-acanthocytosis and Cohen syndrome, respectively
- Grhl2 [Search on AGR]
Homo sapiens ENCODES an gene that exhibits chromatin DNA binding; DNA-binding transcription activator activity; DNA-binding transcription activator activity, RNA polymerase II-specific; INVOLVED IN bicellular tight junction assembly; cell adhesion; cell junction assembly; ASSOCIATED WITH autosomal dominant nonsyndromic deafness 28; Cohen syndrome; Corneal dystrophy; FOUND IN cell-cell junction; nucleoplasm; nucleus; INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-5alpha-androstan-3-one; 2-hydroxypropanoic acid
- Vps13B [Search on AGR]
Homo sapiens This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
- Vps13B [Search on AGR]
Rattus norvegicus Predicted to enable phosphatidylinositol-3-phosphate binding activity. Predicted to be involved in several processes, including Golgi reassembly; acrosome assembly; and slow endocytic recycling. Predicted to act upstream of or within several processes, including dentate gyrus development; head morphogenesis; and social behavior. Predicted to be located in Golgi apparatus and bounding membrane of organelle. Human ortholog(s) of this gene implicated in Cohen syndrome. Orthologous to human VPS13B (vacuolar protein sorting 13 homolog B); INTERACTS WITH (+)-schisandrin B; 2,3,7,8-tetrachlorodibenzodioxine; 2,6-dinitrotoluene.
- HLA-DOA [Search on AGR]
Homo sapiens HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with classical HLA class II molecules, this gene exhibits very little sequence variation, especially at the protein level. [provided by RefSeq, Jul 2008]