- MSH2-OT1 [Search on AGR]
Homo sapiens ASSOCIATED WITH Lynch syndrome; Lynch syndrome 1; Pitt-Hopkins-like syndrome 2; INTERACTS WITH perfluorooctanoic acid
- nlr-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables actin filament binding activity and gap junction channel activity. Involved in positive regulation of gap junction assembly and positive regulation of nematode pharyngeal pumping. Located in gap junction. Expressed in RIS; pharyngeal gland cell; and pharyngeal muscle cell. Human ortholog(s) of this gene implicated in several diseases, including Pitt-Hopkins syndrome; autistic disorder; and communication disorder (multiple). Is an ortholog of human CNTNAP5 (contactin associated protein family member 5).
- Sara [Search on AGR]
Drosophila melanogaster Smad anchor for receptor activation (Sara) encodes an endosomal protein involved in asymmetric stem cell division, intestinal stem cell homeostasis and stem cell fate determination.
- nrx-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Involved in negative regulation of receptor clustering. Located in presynaptic active zone. Expressed in GABAergic neurons; cholinergic neurons; nervous system; and ventral cord neurons. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in Pitt-Hopkins-like syndrome 2 and alcohol dependence. Is an ortholog of human NRXN1 (neurexin 1) and NRXN3 (neurexin 3).
- Tcf4 [Search on AGR]
Rattus norvegicus Enables bHLH transcription factor binding activity and double-stranded DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be part of beta-catenin-TCF7L2 complex and chromatin. Human ortholog(s) of this gene implicated in Fuchs' endothelial dystrophy; Lynch syndrome; and Pitt-Hopkins syndrome. Orthologous to human TCF4 (transcription factor 4); INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine.
- Smad2 [Search on AGR]
Homo sapiens The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]
- Cntnap2 [Search on AGR]
Rattus norvegicus Enables protease binding activity and transmembrane transporter binding activity. Involved in prepulse inhibition. Located in several cellular components, including main axon; neuronal cell body; and synaptic membrane. Is active in GABA-ergic synapse; glutamatergic synapse; and presynaptic membrane. Used to study autism spectrum disorder and visual epilepsy. Human ortholog(s) of this gene implicated in several diseases, including Pitt-Hopkins syndrome; autism spectrum disorder (multiple); communication disorder (multiple); cortical dysplasia-focal epilepsy syndrome; and social phobia. Orthologous to human CNTNAP2 (contactin associated protein 2); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; bisphenol A.
- Dazap2 [Search on AGR]
Homo sapiens This gene encodes a proline-rich protein which interacts with the deleted in azoospermia (DAZ) and the deleted in azoospermia-like gene through the DAZ-like repeats. This protein also interacts with the transforming growth factor-beta signaling molecule SARA (Smad anchor for receptor activation), eukaryotic initiation factor 4G, and an E3 ubiquitinase that regulates its stability in splicing factor containing nuclear speckles. The encoded protein may function in various biological and pathological processes including spermatogenesis, cell signaling and transcription regulation, formation of stress granules during translation arrest, RNA splicing, and pathogenesis of multiple myeloma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
- Nrxn1 [Search on AGR]
Rattus norvegicus Enables several functions, including calcium ion binding activity; cell adhesion molecule binding activity; and neuroligin family protein binding activity. Involved in several processes, including cellular response to calcium ion; circadian rhythm; and presynapse assembly. Acts upstream of or within vesicle docking involved in exocytosis. Located in several cellular components, including cell surface; endocytic vesicle; and slit diaphragm. Used to study autism spectrum disorder. Biomarker of transient cerebral ischemia. Human ortholog(s) of this gene implicated in Pitt-Hopkins-like syndrome 2. Orthologous to human NRXN1 (neurexin 1); INTERACTS WITH 17alpha-ethynylestradiol; 2,2',4,4'-Tetrabromodiphenyl ether; 2,3,7,8-tetrachlorodibenzodioxine.