LEMD3

Description		LEM domain containing 3
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GO Annotations	Cellular Component	Nucleus Nuclear Envelope Nuclear Inner Membrane Membrane Nuclear Membrane
	Molecular Function	Nucleic Acid Binding DNA Binding Protein Binding U1 SnRNP Binding
	Biological Process	Negative Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway Negative Regulation Of BMP Signaling Pathway Negative Regulation Of Activin Receptor Signaling Pathway
Pathways		Nuclear Envelope Breakdown Initiation of Nuclear Envelope (NE) Reformation Depolymerization of the Nuclear Lamina RAC1 GTPase cycle RAC2 GTPase cycle RHOD GTPase cycle RHOG GTPase cycle RAC3 GTPase cycle RND3 GTPase cycle RND2 GTPase cycle RND1 GTPase cycle
Drugs
Diseases		Disorders caused by loss-of-function of LEMD3, including: Osteopoikilosis; Buschke-Ollendorff syndrome (BOS); Melorheostosis
GWAS		Brain morphology (MOSTest) ( 32665545) Dentate gyrus granule cell layer volume ( 30279459) Dentate gyrus molecular layer volume ( 30279459) Height ( 31562340) Hippocampal fissure volume ( 30279459) Hippocampal subfield CA1 volume ( 30279459) Hippocampal subfield CA1 volume (corrected for total hippocampal volume) ( 30279459) Hippocampal subfield CA3 volume ( 30279459) Hippocampal subfield CA4 volume ( 30279459) Subiculum volume ( 30279459) Total hippocampal volume ( 30279459) Venous thromboembolism adjusted for sickle cell variant rs77121243-T ( 28203683) Waist-to-hip ratio adjusted for BMI ( 26426971) Waist-to-hip ratio adjusted for BMI x sex interaction ( 26426971)
Interacting Genes		7 interacting genes: BCLAF1 RABAC1 REEP4 SMAD1 SMAD2 SMAD3 SMAD9
Entrez ID		23592
HPRD ID		09704
Ensembl ID		ENSG00000174106
Uniprot IDs		Q9Y2U8
PDB IDs		2CH0 5ZOJ 5ZOK
Enriched GO Terms of Interacting Partners?		Heteromeric SMAD Protein Complex SMAD Protein Complex I-SMAD Binding SMAD Protein Signal Transduction Co-SMAD Binding Primary MiRNA Processing Transforming Growth Factor Beta Receptor Signaling Pathway Homomeric SMAD Protein Complex MiRNA Processing Ureteric Bud Development Transforming Growth Factor Beta Receptor Superfamily Signaling Pathway Paraxial Mesoderm Morphogenesis Cell Surface Receptor Protein Serine/threonine Kinase Signaling Pathway Mesonephric Epithelium Development Mesonephric Tubule Development Transcription Regulator Complex Embryonic Pattern Specification Mesoderm Morphogenesis Pericardium Development Kidney Epithelium Development Trophoblast Cell Migration Response To Growth Factor DEAD/H-box RNA Helicase Binding Embryonic Foregut Morphogenesis Nodal Signaling Pathway Osteoblast Differentiation Transforming Growth Factor Beta Receptor Binding Positive Regulation Of Transcription By RNA Polymerase II R-SMAD Binding Embryonic Cranial Skeleton Morphogenesis Activin Receptor Signaling Pathway Enzyme-linked Receptor Protein Signaling Pathway Tube Development DNA-binding Transcription Factor Activity Positive Regulation Of Cartilage Development Endoderm Development Epithelium Development Negative Regulation Of Ossification Cellular Response To Growth Factor Stimulus Positive Regulation Of RNA Biosynthetic Process Positive Regulation Of DNA-templated Transcription Mesoderm Formation Gastrulation Nuclear Inner Membrane Ubiquitin Protein Ligase Binding Intracellular Signaling Cassette Phosphatase Binding Positive Regulation Of MiRNA Transcription Positive Regulation Of RNA Metabolic Process Formation Of Primary Germ Layer
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