SLC6A2 and RPGRIP1L

		SLC6A2	RPGRIP1L
Description		solute carrier family 6 member 2	RPGRIP1 like
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GO Annotations	Cellular Component	Plasma Membrane Cell Surface Membrane Axon Synaptic Vesicle Membrane Neuronal Cell Body Membrane Presynaptic Membrane Cell Projection Neuron Projection Synapse	Cytoplasm Centrosome Cytosol Cytoskeleton Plasma Membrane Cell-cell Junction Bicellular Tight Junction Cilium Axoneme Nuclear Speck Photoreceptor Connecting Cilium Ciliary Transition Zone Ciliary Basal Body Cell Projection Anchoring Junction
	Molecular Function	Actin Binding Neurotransmitter Transmembrane Transporter Activity Neurotransmitter:sodium Symporter Activity Dopamine:sodium Symporter Activity Norepinephrine:sodium Symporter Activity Protein Binding Monoamine Transmembrane Transporter Activity Symporter Activity Sodium:chloride Symporter Activity Alpha-tubulin Binding Metal Ion Binding Beta-tubulin Binding	Protein Binding Thromboxane A2 Receptor Binding
	Biological Process	Neurotransmitter Transport Amino Acid Transport Chemical Synaptic Transmission Response To Xenobiotic Stimulus Monoamine Transport Norepinephrine Transport Sodium Ion Transmembrane Transport Response To Pain Dopamine Uptake Involved In Synaptic Transmission Norepinephrine Uptake Neuron Cellular Homeostasis Catecholamine Uptake Neurotransmitter Reuptake Chloride Transmembrane Transport	In Utero Embryonic Development Establishment Of Planar Polarity Kidney Development Liver Development Establishment Or Maintenance Of Cell Polarity Determination Of Left/right Symmetry Brain Development Regulation Of Smoothened Signaling Pathway Regulation Of Signal Transduction Neural Tube Patterning Telencephalon Development Cerebellum Development Lateral Ventricle Development Olfactory Bulb Development Corpus Callosum Development Limb Morphogenesis Embryonic Forelimb Morphogenesis Embryonic Hindlimb Morphogenesis Camera-type Eye Development Nose Development Negative Regulation Of G Protein-coupled Receptor Signaling Pathway Retinal Rod Cell Development Pericardium Development Cilium Assembly Head Development Cochlea Development Non-motile Cilium Assembly
Pathways		SLC-mediated transport of neurotransmitters Defective SLC6A2 causes orthostatic intolerance (OI)	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
Drugs		Amphetamine Phentermine Tramadol Guanadrel Reboxetine Benzatropine Venlafaxine Atomoxetine Amitriptyline Protriptyline Loxapine Methylphenidate Meperidine Imipramine Duloxetine Dextromethorphan Nortriptyline Amoxapine Mazindol Paroxetine Trimipramine Phenmetrazine Pseudoephedrine Cocaine Cyclobenzaprine Maprotiline Diethylpropion Dopamine Sertraline Sibutramine Chlorpheniramine Doxepin Nefazodone Desipramine Bupropion Guanethidine Orphenadrine Escitalopram Ketamine Clomipramine Ephedra sinica root Ephedrine Ginkgo biloba MMDA Midomafetamine Dextroamphetamine Metamfetamine Phendimetrazine Nomifensine Amineptine Debrisoquine Bicifadine Milnacipran XEN-2174 DDP-225 CRx-119 Amitifadine Mianserin Tesofensine Tapentadol Trodusquemine Desvenlafaxine Dexmethylphenidate Levomilnacipran Vortioxetine Dosulepin Viloxazine Zotepine Dasotraline Netarsudil Solriamfetol Serdexmethylphenidate
Diseases		Orthostatic intolerance (OI); Postural tachycardia syndrome (POTS)	Joubert syndrome Meckel syndrome (MKS); Meckel-Gruber syndrome COACH syndrome
GWAS		Birth weight ( 31043758) Post bronchodilator FEV1 ( 26634245)	Abdominal subcutaneous adipose tissue volume ( 34128465) Bipolar disorder ( 21254220) Bipolar disorder or body mass index ( 31754094) Body mass index ( 29273807) Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test) ( 29455858) Diastolic blood pressure x smoking status (ever vs never) interaction (2df test) ( 29455858) Eyebrow thickness ( 26926045) Facial morphology ( 31763980) Kidney volume ( 34128465) Plasma anti-thyroglobulin levels ( 29678681) Serum alkaline phosphatase levels ( 33547301) Systolic blood pressure x smoking status (current vs non-current) interaction (2df test) ( 29455858) Systolic blood pressure x smoking status (ever vs never) interaction (2df test) ( 29455858) Triglyceride change in response to fenofibrate in statin-treated type 2 diabetes ( 28736931) Visceral adipose tissue volume ( 34128465) Weight ( 28552196)
Interacting Genes		2 interacting genes: PPP2R1A STX1A	1 interacting genes: TBXA2R
Entrez ID		6530	23322
HPRD ID		01232	17204
Ensembl ID		ENSG00000103546	ENSG00000103494
Uniprot IDs		H3BRE9 P23975	A0A087WX34 B7ZKJ9 H3BPS4 H3BV03 I3L1B5 Q68CZ1
PDB IDs		8HFE 8HFF 8HFG 8HFI 8HFL 8I3V 8WGR 8WGX 8WTU 8WTV 8WTW 8WTX 8WTY 8XB2 8XB3 8XB4 8Y8Z 8Y90 8Y91 8Y92 8Y93 8Y94 8Y95 8YR2 8Z1L 8ZOY 8ZP1 8ZP2 8ZPB	2YRB
Enriched GO Terms of Interacting Partners?		Meiotic Spindle Elongation Myosin Head/neck Binding Thromboxane A2 Receptor Binding Chromosome Separation Mitotic Sister Chromatid Separation Meiotic Sister Chromatid Cohesion Spindle Elongation Neuron Projection Regulation Of Meiotic Cell Cycle Process Involved In Oocyte Maturation Meiotic Sister Chromatid Cohesion, Centromeric Protein Antigen Binding Positive Regulation Of Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand Actomyosin Synaptic Vesicle Docking Regulation Of Norepinephrine Secretion Positive Regulation Of Catecholamine Secretion ATP-dependent Protein Binding Regulation Of Synaptic Vesicle Priming Response To Gravity SNARE Complex Assembly Synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I Complex Chloride Channel Inhibitor Activity Synaptobrevin 2-SNAP-25-syntaxin-1a Complex Positive Regulation Of Norepinephrine Secretion Synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II Complex Retinal Rod Cell Development Neural Tube Patterning Pericardium Development Nose Development Lateral Ventricle Development Calcium Channel Inhibitor Activity INTAC Complex FAR/SIN/STRIPAK Complex Protein Phosphatase Type 2A Complex Cellular Component Assembly Positive Regulation Of Calcium Ion-dependent Exocytosis Organelle Organization Glutamatergic Synapse Female Meiotic Nuclear Division Corpus Callosum Development Positive Regulation Of Neurotransmitter Secretion RNA Polymerase II Transcription Initiation Surveillance Establishment Of Planar Polarity Negative Regulation Of Hippo Signaling Myosin Binding Head Development Olfactory Bulb Development Presynaptic Active Zone Membrane Telencephalon Development Embryonic Hindlimb Morphogenesis	Neurotransmitter:sodium Symporter Activity Thromboxane Receptor Activity Thromboxane A2 Signaling Pathway Thromboxane A2 Receptor Activity Sodium:chloride Symporter Activity Norepinephrine:sodium Symporter Activity Dopamine:sodium Symporter Activity Response To Xenobiotic Stimulus Norepinephrine Uptake Dopamine Uptake Involved In Synaptic Transmission Norepinephrine Transport Monoamine Transmembrane Transporter Activity Catecholamine Uptake Dopamine Uptake Neurotransmitter Transmembrane Transporter Activity Response To Pain Dopamine Transport Neurotransmitter Reuptake Monoamine Transport Neuronal Cell Body Membrane Neurotransmitter Uptake Negative Regulation Of Cell Migration Involved In Sprouting Angiogenesis Positive Regulation Of Coagulation Positive Regulation Of Smooth Muscle Contraction Positive Regulation Of Vasoconstriction Positive Regulation Of Blood Coagulation Positive Regulation Of Blood Pressure Beta-tubulin Binding Response To Testosterone Alpha-tubulin Binding Positive Regulation Of Muscle Contraction Negative Regulation Of Blood Vessel Endothelial Cell Migration Regulation Of Cell Migration Involved In Sprouting Angiogenesis Smooth Muscle Contraction
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