LEMD3 and SMAD9

Number of citations: 54 (PubMedID 15231748)
Data Source: HPRD (two hybrid)

		LEMD3	SMAD9
Name		LEM domain containing 3	SMAD family member 9
Structure
GO Annotations	Cellular Component	Nucleus Nuclear Envelope Nuclear Inner Membrane Membrane Nuclear Membrane	Chromatin Nucleus Nucleoplasm Transcription Regulator Complex Cytoplasm Cytosol SMAD Protein Complex Heteromeric SMAD Protein Complex
	Molecular Function	Nucleic Acid Binding DNA Binding Protein Binding U1 SnRNP Binding	RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific DNA Binding DNA-binding Transcription Factor Activity Protein Binding Metal Ion Binding I-SMAD 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	Osteoblast Differentiation Regulation Of DNA-templated Transcription Regulation Of Transcription By RNA Polymerase II Intracellular Iron Ion Homeostasis Transforming Growth Factor Beta Receptor Signaling Pathway Anatomical Structure Morphogenesis Cell Differentiation BMP Signaling Pathway Developmental Process Positive Regulation Of Transcription By RNA Polymerase II Stem Cell Differentiation SMAD Protein Signal Transduction Cellular Response To Growth Factor Stimulus Cellular Response To BMP Stimulus Transforming Growth Factor Beta Receptor Superfamily 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	Signaling by BMP
Diseases		Disorders caused by loss-of-function of LEMD3, including: Osteopoikilosis; Buschke-Ollendorff syndrome (BOS); Melorheostosis	None
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 )	Coronary artery disease ( 29212778 ) Heel bone mineral density ( 28869591 30598549 ) Perioperative myocardial infarction in coronary artery bypass surgery ( 25948407 ) Spontaneous preterm birth (preterm birth) ( 25599974 ) Total body bone mineral density ( 29304378 )
Interacting Genes		7 interacting genes: BCLAF1 RABAC1 REEP4 SMAD1 SMAD2 SMAD3 SMAD9	117 interacting genes: ABTB1 ACTB ACVR1 AFF1 AP2A1 ARHGAP9 ARID1B ARNT ASB2 ASH2L BAZ1A BTG2 CAMSAP1 CEP135 CHPF CLPB CPXM2 CSH1 CSH2 CTR9 CXXC5 CYP11A1 DIAPH3 DKK1 DNAJA3 DNAJC7 DST DSTN E4F1 EIF3C EIF3E EIF3F ERVV-1 EVC2 EXPH5 FLI1 FN1 FTL GRN HEY1 HEYL HUWE1 KDM1A KDM6A KMT2D LEMD3 LMO4 LNPEP LRP5 MACO1 MAN1A2 MAN1C1 MAN2B1 MBD1 MCM3AP METAP1 MGAT1 MTMR10 MTMR11 NAGK OTUB1 PABPC4 PAPPA PELP1 PHKA2 PIR PKP2 PLEC PNPLA2 PPARD PPP2R5E PRMT6 PSAP PSMD8 QARS1 RANBP9 RFX1 RMND5A RNF123 RRBP1 RUBCN SECISBP2 SF3B1 SIL1 SKIC3 SMAD2 SMAD3 SMAD4 SMG1 SNRNP70 SPTBN1 STAG1 SVEP1 TBCD TERF1 TINAGL1 TOB1 TRIM29 TRIP12 TWNK UBA6 UBE3A UBQLN1 UBQLN4 UNC45A VCPIP1 VPS8 XAB2 YWHAQ ZEB2 ZNF484 ZNF557 ZNF587 ZNF587B ZNF592 ZNF83 ZSCAN4
Entrez ID		23592	4093
HPRD ID		09704	04484
Ensembl ID		ENSG00000174106	ENSG00000120693
Uniprot IDs		Q9Y2U8	O15198
PDB IDs		2CH0 5ZOJ 5ZOK	6FZT
GO Terms Enriched among Interactors		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	Macromolecule Metabolic Process Ameboidal-type Cell Migration Nucleus Regulation Of Primary Metabolic Process Regulation Of Macromolecule Biosynthetic Process Regulation Of Macromolecule Metabolic Process Regulation Of Transcription By RNA Polymerase II Regulation Of Metabolic Process Negative Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of Nucleobase-containing Compound Metabolic Process Macromolecule Catabolic Process Regulation Of SMAD Protein Signal Transduction Regulation Of Gene Expression Macromolecule Biosynthetic Process SMAD Protein Complex Protein Metabolic Process Regulation Of RNA Metabolic Process Gastrulation Anterior/posterior Pattern Specification Heteromeric SMAD Protein Complex Nucleoplasm Negative Regulation Of Metabolic Process Regulation Of DNA-templated Transcription Regulation Of RNA Biosynthetic Process R-SMAD Binding Histone Methyltransferase Complex Proteolysis Activin Receptor Signaling Pathway RNA Polymerase II-specific DNA-binding Transcription Factor Binding Negative Regulation Of DNA-templated Transcription Negative Regulation Of RNA Biosynthetic Process Metal Ion Binding Positive Regulation Of Epithelial To Mesenchymal Transition Negative Regulation Of Macromolecule Metabolic Process Negative Regulation Of RNA Metabolic Process MLL3/4 Complex Endoderm Development Catabolic Process Protein Catabolic Process Regionalization Formation Of Cytoplasmic Translation Initiation Complex Eukaryotic Translation Initiation Factor 3 Complex Activin Responsive Factor Complex Paraxial Mesoderm Morphogenesis Negative Regulation Of Autophagosome Maturation Golgi Apparatus Mannose Trimming Positive Regulation Of Macromolecule Metabolic Process Chromatin Remodeling Regulation Of Organelle Organization Ventricular Septum Morphogenesis