BBS4 and SEMA7A

		BBS4	SEMA7A
Description		Bardet-Biedl syndrome 4	semaphorin 7A (JohnMiltonHagen blood group)
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GO Annotations	Cellular Component	Pericentriolar Material Photoreceptor Outer Segment Photoreceptor Inner Segment Nucleus Cytoplasm Centrosome Centriole Cytosol Cytoskeleton Plasma Membrane Cilium Membrane Motile Cilium Photoreceptor Connecting Cilium Centriolar Satellite BBSome Ciliary Transition Zone Ciliary Basal Body Cell Projection Ciliary Membrane Non-motile Cilium	Plasma Membrane External Side Of Plasma Membrane Membrane Extracellular Matrix Side Of Membrane Presynapse GABA-ergic Synapse
	Molecular Function	Protein Binding Protein-macromolecule Adaptor Activity Dynactin Binding Alpha-tubulin Binding Beta-tubulin Binding RNA Polymerase II-specific DNA-binding Transcription Factor Binding	Integrin Binding Protein Binding Semaphorin Receptor Binding Neuropilin Binding Chemorepellent Activity
	Biological Process	Microtubule Cytoskeleton Organization Mitotic Cytokinesis Neuron Migration Leukocyte Homeostasis B Cell Homeostasis Neural Tube Closure Retina Homeostasis Heart Looping Lymphocyte Homeostasis Myeloid Cell Homeostasis Negative Regulation Of Systemic Arterial Blood Pressure Centrosome Cycle Spermatid Development Sensory Perception Visual Perception Sensory Perception Of Smell Intracellular Protein Localization Gene Expression Negative Regulation Of Gene Expression Protein Transport Wnt Signaling Pathway Dendrite Development Regulation Of Lipid Metabolic Process Ventricular System Development Striatum Development Hippocampus Development Cerebral Cortex Development Cell Projection Organization Adult Behavior Negative Regulation Of Actin Filament Polymerization Melanosome Transport Regulation Of Cytokinesis Leptin-mediated Signaling Pathway Protein Localization To Organelle Erythrocyte Homeostasis Microtubule Anchoring At Centrosome Social Behavior Photoreceptor Cell Outer Segment Organization Negative Regulation Of Appetite By Leptin-mediated Signaling Pathway Positive Regulation Of Multicellular Organism Growth Response To Leptin Fat Cell Differentiation Photoreceptor Cell Maintenance Positive Regulation Of Cilium Assembly Retinal Rod Cell Development Brain Morphogenesis Homeostasis Of Number Of Cells Sensory Processing Maintenance Of Protein Location In Nucleus Regulation Of Stress Fiber Assembly Cilium Assembly Regulation Of Cilium Beat Frequency Involved In Ciliary Motility Face Development Adipose Tissue Development Fat Pad Development Protein Localization To Cilium Protein Localization To Centrosome Sperm Flagellum Assembly Regulation Of Non-motile Cilium Assembly Protein Localization To Photoreceptor Outer Segment Non-motile Cilium Assembly	Osteoblast Differentiation Neural Crest Cell Migration Inflammatory Response Immune Response Integrin-mediated Signaling Pathway Nervous System Development Axon Guidance Olfactory Lobe Development Cell Differentiation Positive Regulation Of Cell Migration Neuron Projection Development Positive Regulation Of Axon Extension Axon Extension Regulation Of Inflammatory Response Negative Chemotaxis Positive Regulation Of Macrophage Cytokine Production Positive Regulation Of ERK1 And ERK2 Cascade Semaphorin-plexin Signaling Pathway Regulation Of Synapse Maturation
Pathways		BBSome-mediated cargo-targeting to cilium	Other semaphorin interactions Other semaphorin interactions
Drugs
Diseases		Bardet-Biedl syndrome (BBS)
GWAS		Body mass index ( 28448500 29273807) Body mass index (joint analysis main effects and physical activity interaction) ( 28448500) Body mass index in physically active individuals ( 28448500) Mild obesity-related type 2 diabetes ( 34737425) Theory of mind score in adolescence (Emotional Triangles Task) ( 29472613) Triglycerides ( 30275531) Waist-to-hip ratio adjusted for BMI ( 26426971) Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) ( 26426971)	Airflow obstruction ( 22837378) Alcohol consumption (drinks per week) ( 30643258) Apolipoprotein A1 levels ( 32203549) Craniofacial microsomia ( 26853712) HDL cholesterol levels ( 32203549) Hypertension ( 31879980)
Interacting Genes		23 interacting genes: ACTB BHMT CALCA CATSPERT DCTN1 EEF1A1 EIF3A EPAS1 EXOC7 FHOD1 HSCB KRT18 MYOG OAS1 PAX2 PCM1 RARA RARG REL SPIRE1 TOM1 TOM1L2 ZIC1	1 interacting genes: PLXNC1
Entrez ID		585	8482
HPRD ID		08982	07081
Ensembl ID		ENSG00000140463	ENSG00000138623
Uniprot IDs		A0A0S2Z3A9 B4DQR5 Q96RK4	B3KMH6 F5GYX3 O75326
PDB IDs		6XT9	3NVQ
Enriched GO Terms of Interacting Partners?		Nucleus Localization Nuclear Migration Trachea Cartilage Development Glandular Epithelial Cell Development Centriolar Satellite DNA-binding Transcription Factor Activity Microtubule Anchoring At Centrosome Embryonic Organ Development Growth Plate Cartilage Development Positive Regulation Of Metabolic Process Cytoplasm Regulation Of Cell Development Positive Regulation Of Macromolecule Biosynthetic Process Cytosol Response To Peptide Vesicle-mediated Transport Response To Cytokine Microtubule Anchoring At Microtubule Organizing Center Surfactant Homeostasis Cis-regulatory Region Sequence-specific DNA Binding Tube Closure Camera-type Eye Development Cellular Response To Retinoic Acid Neural Tube Closure Columnar/cuboidal Epithelial Cell Development Embryonic Camera-type Eye Development Nucleoplasm Cartilage Development Involved In Endochondral Bone Morphogenesis Positive Regulation Of Biosynthetic Process Microtubule Organizing Center Positive Regulation Of Cell Development Positive Regulation Of Macromolecule Metabolic Process Transcription Regulator Complex Positive Regulation Of Transcription By RNA Polymerase II Response To Retinoic Acid Retinoic Acid Receptor Signaling Pathway Face Development Microtubule Anchoring Positive Regulation Of Nucleobase-containing Compound Metabolic Process Organelle Localization Sequence-specific DNA Binding RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding Establishment Of Organelle Localization Positive Regulation Of RNA Biosynthetic Process Positive Regulation Of DNA-templated Transcription Eye Development Protein-containing Complex Tube Formation Negative Regulation Of Cartilage Development Chromatin	Regulation Of Cell Motility Microtubule Anchoring At Centrosome Positive Regulation Of Cellular Component Organization Cytokine-mediated Signaling Pathway Protein Localization To Non-motile Cilium BBSome Regulation Of Locomotion Photoreceptor Cell Outer Segment Organization Retinal Rod Cell Development Negative Regulation Of Appetite Positive Regulation Of Organelle Assembly Protein Localization To Photoreceptor Outer Segment Positive Regulation Of Multicellular Organismal Process Striatum Development Fat Pad Development Positive Regulation Of Developmental Process Regulation Of Protein-containing Complex Assembly Erythrocyte Homeostasis Leptin-mediated Signaling Pathway Sensory Processing Dynactin Binding Regulation Of Non-motile Cilium Assembly Positive Regulation Of Cell Projection Organization Negative Regulation Of Appetite By Leptin-mediated Signaling Pathway Microtubule Anchoring At Microtubule Organizing Center Adult Behavior Regulation Of Cilium Beat Frequency Involved In Ciliary Motility Regulation Of Organelle Assembly Cholinergic Synapse Acetylcholine-gated Monoatomic Cation-selective Channel Activity Behavioral Response To Nicotine Acetylcholine Receptor Activity Dopaminergic Synapse Acetylcholine-gated Channel Complex Neurotransmitter Receptor Complex Positive Regulation Of Podosome Assembly Regulation Of Podosome Assembly Positive Regulation Of Interleukin-23 Production Cellular Response To Granulocyte Macrophage Colony-stimulating Factor Stimulus Granulocyte-macrophage Colony-stimulating Factor Signaling Pathway Granulocyte Macrophage Colony-stimulating Factor Receptor Complex Epithelial Fluid Transport Regulation Of Interleukin-23 Production Granulocyte Macrophage Colony-stimulating Factor Receptor Binding Neutrophil Differentiation Response To Silicon Dioxide Histamine Transport Histamine Secretion Semaphorin Receptor Complex Regulation Of Synapse Pruning
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