Human Gene SLC22A2 (ENST00000366953.8) from GENCODE V44
  Description: Homo sapiens solute carrier family 22 member 2 (SLC22A2), mRNA. (from RefSeq NM_003058)
RefSeq Summary (NM_003058): Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. It is found primarily in the kidney, where it may mediate the first step in cation reabsorption. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000366953.8
Gencode Gene: ENSG00000112499.13
Transcript (Including UTRs)
   Position: hg38 chr6:160,216,755-160,258,821 Size: 42,067 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg38 chr6:160,217,432-160,258,757 Size: 41,326 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:160,216,755-160,258,821)mRNA (may differ from genome)Protein (555 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: S22A2_HUMAN
DESCRIPTION: RecName: Full=Solute carrier family 22 member 2; AltName: Full=Organic cation transporter 2; Short=hOCT2;
FUNCTION: Mediates tubular uptake of organic compounds from circulation. Mediates the influx of agmatine, dopamine, noradrenaline (norepinephrine), serotonin, choline, famotidine, ranitidine, histamin, creatinine, amantadine, memantine, acriflavine, 4-[4-(dimethylamino)-styryl]-N-methylpyridinium ASP, amiloride, metformin, N-1-methylnicotinamide (NMN), tetraethylammonium (TEA), 1-methyl-4-phenylpyridinium (MPP), cimetidine, cisplatin and oxaliplatin. Cisplatin may develop a nephrotoxic action. Transport of creatinine is inhibited by fluoroquinolones such as DX-619 and LVFX. This transporter is a major determinant of the anticancer activity of oxaliplatin and may contribute to antitumor specificity.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=1 mM for agmatine; KM=95 uM for amiloride; KM=24 uM for ASP; KM=34 uM for memantine; KM=27 uM for amantadine; KM=1.38 mM for metformin; KM=1.9 mM for noradrenaline; KM=1.9 mM for norepinephrine; KM=1.3 mM for histamine; KM=0.39 mM for dopamine; KM=0.08 mM for serotonine; KM=72.6 uM for cimetidine (at pH 7.4 and 37 degrees Celsius); KM=56.1 uM for famotidine; KM=65.2 uM for ranitidine; KM=431 uM for TEA (isoform 1); KM=63 uM for TEA (isoform 2); Vmax=3770 pmol/min/mg enzyme for TEA uptake (isoform 1); Vmax=314 pmol/min/mg enzyme for TEA uptake (isoform 2); Vmax=11.9 nmol/min/mg enzyme for metformin uptake; Vmax=2170 pmol/min/mg enzyme for cimetidine uptake; Vmax=204 pmol/min/mg enzyme for famotidine uptake; Vmax=265 pmol/min/mg enzyme for ranitidine uptake;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
TISSUE SPECIFICITY: Mainly expressed in kidney. Localized at the luminal membrane and basolateral membrane of kidney distal tubule and proximal tubules. To a lower extent, expressed in neurons of the cerebral cortex and in various subcortical nuclei (at protein levels). Also detected in secretory phase endometrium; in scattered cells in the stroma.
INDUCTION: May be down-regulated in diabetic patients.
SIMILARITY: Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: SLC22A2
Diseases sorted by gene-association score: carnitine deficiency, systemic primary (18), t-cell/histiocyte rich large b cell lymphoma (13), mediastinal gray zone lymphoma (13), gray zone lymphoma (13), placental choriocarcinoma (11), cerebral palsy, ataxic, autosomal recessive (7), chromosome 3q29 microdeletion syndrome (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.41 RPKM in Kidney - Cortex
Total median expression: 9.08 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -20.5064-0.320 Picture PostScript Text
3' UTR -135.00677-0.199 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020846 - MFS_dom
IPR016196 - MFS_dom_general_subst_transpt
IPR004749 - Orgcat_transp
IPR005828 - Sub_transporter
IPR005829 - Sugar_transporter_CS

Pfam Domains:
PF00083 - Sugar (and other) transporter

ModBase Predicted Comparative 3D Structure on O15244
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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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005215 transporter activity
GO:0005277 acetylcholine transmembrane transporter activity
GO:0005326 neurotransmitter transporter activity
GO:0005329 dopamine transmembrane transporter activity
GO:0005333 norepinephrine transmembrane transporter activity
GO:0008513 secondary active organic cation transmembrane transporter activity
GO:0008514 organic anion transmembrane transporter activity
GO:0015101 organic cation transmembrane transporter activity
GO:0015651 quaternary ammonium group transmembrane transporter activity
GO:0022857 transmembrane transporter activity

Biological Process:
GO:0006811 ion transport
GO:0006812 cation transport
GO:0006836 neurotransmitter transport
GO:0006855 drug transmembrane transport
GO:0007269 neurotransmitter secretion
GO:0007589 body fluid secretion
GO:0015695 organic cation transport
GO:0015697 quaternary ammonium group transport
GO:0015711 organic anion transport
GO:0015872 dopamine transport
GO:0015874 norepinephrine transport
GO:0042136 neurotransmitter biosynthetic process
GO:0055085 transmembrane transport
GO:0072488 ammonium transmembrane transport
GO:1901374 acetate ester transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0070062 extracellular exosome
GO:0098793 presynapse


-  Descriptions from all associated GenBank mRNAs
  BC039899 - Homo sapiens solute carrier family 22 (organic cation transporter), member 2, mRNA (cDNA clone MGC:47742 IMAGE:5186229), complete cds.
AB075951 - Homo sapiens mRNA for organic cation transporter hOCT2-A, complete cds.
JD303323 - Sequence 284347 from Patent EP1572962.
X98333 - H.sapiens mRNA for organic cation transporter, kidney.
JD215680 - Sequence 196704 from Patent EP1572962.
JD300490 - Sequence 281514 from Patent EP1572962.
JD385562 - Sequence 366586 from Patent EP1572962.
AK290787 - Homo sapiens cDNA FLJ76030 complete cds, highly similar to Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), transcript variant 1, mRNA.
JD328324 - Sequence 309348 from Patent EP1572962.
JD499892 - Sequence 480916 from Patent EP1572962.
JD307681 - Sequence 288705 from Patent EP1572962.
JD182196 - Sequence 163220 from Patent EP1572962.
JD175530 - Sequence 156554 from Patent EP1572962.
BC030978 - Homo sapiens solute carrier family 22 (organic cation transporter), member 2, mRNA (cDNA clone IMAGE:4608270), complete cds.
CU689064 - Synthetic construct Homo sapiens gateway clone IMAGE:100022965 5' read SLC22A2 mRNA.
KJ901748 - Synthetic construct Homo sapiens clone ccsbBroadEn_11142 SLC22A2 gene, encodes complete protein.
KR711461 - Synthetic construct Homo sapiens clone CCSBHm_00023970 SLC22A2 (SLC22A2) mRNA, encodes complete protein.
KR711462 - Synthetic construct Homo sapiens clone CCSBHm_00023971 SLC22A2 (SLC22A2) mRNA, encodes complete protein.
KR711463 - Synthetic construct Homo sapiens clone CCSBHm_00023972 SLC22A2 (SLC22A2) mRNA, encodes complete protein.
JD400423 - Sequence 381447 from Patent EP1572962.
JD392427 - Sequence 373451 from Patent EP1572962.
JD135075 - Sequence 116099 from Patent EP1572962.
JD216742 - Sequence 197766 from Patent EP1572962.
JD399372 - Sequence 380396 from Patent EP1572962.
JD187288 - Sequence 168312 from Patent EP1572962.
JD490379 - Sequence 471403 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O15244 (Reactome details) participates in the following event(s):

R-HSA-2161500 abacavir [extracellular] => abacavir [cytosol]
R-HSA-374896 Uptake of Noradrenaline
R-HSA-374919 Noradrenaline clearance from the synaptic cleft
R-HSA-549279 OCT2 mediates tubular uptake of organic cations in the kidney
R-HSA-561054 OCT2 mediates tubular secretion of organic cations in the kidney
R-HSA-549129 OCT1 transports organic cations into hepatic cells
R-HSA-549322 OCT1 transports organic cations out of hepatic cells
R-HSA-2161517 Abacavir transmembrane transport
R-HSA-181430 Norepinephrine Neurotransmitter Release Cycle
R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters
R-HSA-112311 Neurotransmitter clearance
R-HSA-549127 Organic cation transport
R-HSA-2161522 Abacavir transport and metabolism
R-HSA-112310 Neurotransmitter release cycle
R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds
R-HSA-425428 Amine compound SLC transporters
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-549132 Organic cation/anion/zwitterion transport
R-HSA-1430728 Metabolism
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-112316 Neuronal System
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000366953.1, ENST00000366953.2, ENST00000366953.3, ENST00000366953.4, ENST00000366953.5, ENST00000366953.6, ENST00000366953.7, NM_003058, O15244, OCT2, Q5T7Q6, Q6PIQ8, Q8NG62, Q9NQB9, S22A2_HUMAN, uc003qtf.1, uc003qtf.2, uc003qtf.3, uc003qtf.4, uc003qtf.5
UCSC ID: ENST00000366953.8
RefSeq Accession: NM_003058
Protein: O15244 (aka S22A2_HUMAN)
CCDS: CCDS5276.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.