- TGFB2-OT1 [Search on AGR]
Homo sapiens ASSOCIATED WITH Loeys-Dietz syndrome; Loeys-Dietz syndrome 4; Usher syndrome
- TMPO-AS1 [Search on AGR]
Homo sapiens ASSOCIATED WITH dilated cardiomyopathy; familial hypertrophic cardiomyopathy; Loeys-Dietz syndrome 2; INTERACTS WITH 17beta-estradiol; aristolochic acid A; butanal
- TGFB2-AS1 [Search on AGR]
Homo sapiens ASSOCIATED WITH Loeys-Dietz syndrome 4; Usher syndrome; INTERACTS WITH aristolochic acid A; bisphenol A; sodium arsenite
- Gpatch2l [Search on AGR]
Homo sapiens ASSOCIATED WITH intellectual disability; Intellectual disability, mild; Loeys-Dietz syndrome 5; INTERACTS WITH (-)-demecolcine; acrolein; aflatoxin B1
- Fam177b [Search on AGR]
Homo sapiens ASSOCIATED WITH Gastrointestinal stroma tumor; gastrointestinal stromal tumor; Loeys-Dietz syndrome 4; INTERACTS WITH (-)-epigallocatechin 3-gallate; arsane; arsenic atom
- Tgfbr1 [Search on AGR]
Homo sapiens The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
- sma-2 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific; I-SMAD binding activity; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including male anatomical structure morphogenesis; nematode pharynx development; and regulation of anatomical structure morphogenesis. Predicted to be located in cytoplasm and nucleus. Predicted to be part of heteromeric SMAD protein complex. Expressed in head. Human ortholog(s) of this gene implicated in several diseases, including Loeys-Dietz syndrome 3; carcinoma (multiple); and reproductive organ cancer (multiple). Is an ortholog of human SMAD9 (SMAD family member 9).
- Smad3 [Search on AGR]
Homo sapiens The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. The SMAD3 protein functions in the transforming growth factor-beta signaling pathway, and transmits signals from the cell surface to the nucleus, regulating gene activity and cell proliferation. This protein forms a complex with other SMAD proteins and binds DNA, functioning both as a transcription factor and tumor suppressor. Mutations in this gene are associated with aneurysms-osteoarthritis syndrome and Loeys-Dietz Syndrome 3. [provided by RefSeq, May 2022]
- Tgfb2 [Search on AGR]
Rattus norvegicus Enables identical protein binding activity. Involved in several processes, including negative regulation of release of sequestered calcium ion into cytosol; regulation of apoptotic process; and skeletal system morphogenesis. Located in several cellular components, including cell surface; secretory granule; and trans-Golgi network. Biomarker of diabetic neuropathy; myocardial infarction; and osteochondrodysplasia. Human ortholog(s) of this gene implicated in Loeys-Dietz syndrome 4; colorectal cancer; and pancreatic adenosquamous carcinoma. Orthologous to human TGFB2 (transforming growth factor beta 2); PARTICIPATES IN glypican signaling pathway; Hedgehog signaling pathway; transforming growth factor-beta Smad dependent signaling pathway; INTERACTS WITH (R)-lipoic acid; (R)-noradrenaline; 1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane.
- Tgfb3 [Search on AGR]
Rattus norvegicus Predicted to enable several functions, including cytokine activity; transforming growth factor beta binding activity; and transforming growth factor beta receptor binding activity. Involved in several processes, including regulation of signal transduction; response to estrogen; and skeletal system morphogenesis. Located in several cellular components, including T-tubule; neuronal cell body; and secretory granule. Biomarker of diabetic neuropathy. Human ortholog(s) of this gene implicated in Loeys-Dietz syndrome 5; arrhythmogenic right ventricular cardiomyopathy; and arrhythmogenic right ventricular dysplasia 1. Orthologous to human TGFB3 (transforming growth factor beta 3); PARTICIPATES IN glypican signaling pathway; transforming growth factor-beta Smad dependent signaling pathway; cell cycle pathway, mitotic; INTERACTS WITH (R)-noradrenaline; 1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane; 2,3,7,8-tetrachlorodibenzodioxine.