Human Gene SLC6A2 (ENST00000568943.6) from GENCODE V44
Description: Homo sapiens solute carrier family 6 member 2 (SLC6A2), transcript variant 2, mRNA. (from RefSeq NM_001172501) RefSeq Summary (NM_001172501): This gene encodes a member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis. Mutations in this gene cause orthostatic intolerance, a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]. Gencode Transcript: ENST00000568943.6 Gencode Gene: ENSG00000103546.19 Transcript (Including UTRs) Position: hg38 chr16:55,655,988-55,706,192 Size: 50,205 Total Exon Count: 15 Strand: + Coding Region Position: hg38 chr16:55,656,695-55,702,346 Size: 45,652 Coding Exon Count: 14
ID:SC6A2_HUMAN DESCRIPTION: RecName: Full=Sodium-dependent noradrenaline transporter; AltName: Full=Norepinephrine transporter; Short=NET; AltName: Full=Solute carrier family 6 member 2; FUNCTION: Amine transporter. Terminates the action of noradrenaline by its high affinity sodium-dependent reuptake into presynaptic terminals. SUBUNIT: Interacts with PRKCABP. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. DISEASE: Defects in SLC6A2 are a cause of orthostatic intolerance (OI) [MIM:604715]. OI is a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. It is associated with postural tachycardia. Plasma norepinephrine concentration is abnormally high. MISCELLANEOUS: This protein is the target of psychomotor stimulants such as amphetamines or cocaine. SIMILARITY: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A2 subfamily. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC6A5";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00209 - Sodium:neurotransmitter symporter family
ModBase Predicted Comparative 3D Structure on P23975
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006836 neurotransmitter transport GO:0007268 chemical synaptic transmission GO:0015844 monoamine transport GO:0015874 norepinephrine transport GO:0035725 sodium ion transmembrane transport GO:0042493 response to drug GO:0048265 response to pain GO:0055085 transmembrane transport GO:0051583 dopamine uptake involved in synaptic transmission
AB022847 - Homo sapiens mRNA for norepinephrine transporter isoform 2, partial cds. AK312793 - Homo sapiens cDNA, FLJ93211, Homo sapiens solute carrier family 6 (neurotransmitter transporter,noradrenalin), member 2 (SLC6A2), mRNA. M65105 - Human noradrenaline transporter mRNA, complete cds. BC060831 - Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2, mRNA (cDNA clone IMAGE:30338878). JD348253 - Sequence 329277 from Patent EP1572962. JD522923 - Sequence 503947 from Patent EP1572962. BC156903 - Synthetic construct Homo sapiens clone IMAGE:100062757, MGC:190603 solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2) mRNA, encodes complete protein. BC039309 - Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2, mRNA (cDNA clone IMAGE:5270717), with apparent retained intron. AK301811 - Homo sapiens cDNA FLJ58297 complete cds, highly similar to Sodium-dependent noradrenaline transporter. BC000563 - Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2, mRNA (cDNA clone IMAGE:3162672), partial cds. AK310410 - Homo sapiens cDNA, FLJ17452. AB022846 - Homo sapiens mRNA for norepinephrine transporter isoform 1, partial cds. JD292258 - Sequence 273282 from Patent EP1572962. JD060585 - Sequence 41609 from Patent EP1572962. JD124190 - Sequence 105214 from Patent EP1572962. JD386332 - Sequence 367356 from Patent EP1572962. JD290650 - Sequence 271674 from Patent EP1572962. JD551958 - Sequence 532982 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein P23975 (Reactome details) participates in the following event(s):
R-HSA-443997 SLC6A2 cotransports NAd, Na+ from extracellular region to cytosol R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds R-HSA-425428 Amine compound SLC transporters R-HSA-425407 SLC-mediated transmembrane transport R-HSA-382551 Transport of small molecules