SLC6A20 Gene

Aliases
for SLC6A20 gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC03M045758 GC03M045771

Summaries
for SLC6A20 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for SLC6A20 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000003.11  NT_022517.19  NC_018914.2  

SwitchGear Promoter luciferase reporter plasmid: SLC6A20 promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC6A20

SLC6A20 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M045796:  view genomic region     (about GC identifiers)

Proteins
for SLC6A20 gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for SLC6A20: NX_Q9NP91

Explore proteomics data for SLC6A20 at MOPED

Post-translational modifications: 

SLC6A20 Human Recombinant Protein Products:

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	antibodies-online peptides for SLC6A20

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	antibodies-online kits for SLC6A20 (4 products)

Domains /
Families
for SLC6A20 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: Q9NP91

Find genes that share domains with SLC6A20           About GenesLikeMe

Function
for SLC6A20 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 2 molecular function terms:    About this table

genOway: Develop your customized and physiologically relevant rodent model for SLC6A20

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		SwitchGear 3'UTR luciferase reporter plasmid: SLC6A20 3' UTR sequence

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Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for SLC6A20

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A20

Localization
for SLC6A20 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
plasma membrane	5
cytoskeleton	1
cytosol	1
endoplasmic reticulum	1
nucleus	1

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Gene Ontology (GO): 4 cellular component terms:    About this table

Pathways & Interactions
for SLC6A20 gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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SuperPaths for SLC6A20 About     See pathways by source

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	SuperPath	Contained pathways About
1	Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds	SLC-mediated transmembrane transport 0.47 Transport of inorganic cations/anions and amino acids/oligopeptides 0.38 Transmembrane transport of small molecules 0.47 Amino acid transport across the plasma membrane 0.32 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 0.38 Na+/Cl- dependent neurotransmitter transporters 0.00

2 Reactome Pathways for SLC6A20

	Na+/Cl- dependent neurotransmitter transporters
	Amino acid transport across the plasma membrane

Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

Drugs & Compounds
for SLC6A20 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for SLC6A20 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for SLC6A20 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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SLC6A20 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

Epithelial Cells
Proximal Tubule Cells Proximal Tubule
Kidney (Urinary System)
Proximal Tubule Cells Proximal Tubule
Endothelium (Cardiovascular System)    fully expand to see all 2 entries
Endothelial Cells Blood Brain Barrier
Brain (Nervous System)    fully expand to see all 2 entries
Endothelial Cells Blood Brain Barrier
Colon (Gastrointestinal Tract)

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A20

Orthologs
for SLC6A20 gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for SLC6A20 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for SLC6A20 gene

SLC6A15²  SLC6A17²  SLC6A18²  SLC6A16²  SLC6A19²  

Selected SIMAP similar genes for SLC6A20 using alignment to 3 protein entries:     S6A20_HUMAN (see all proteins) (see all similar genes):

DAT1    SLC6A15    SLC6A19    DKFZp761I0921    SLC6A17    SLC6A18

5HTT    SLC6A4    SLC6A16    SLC6A6    SLC6A3    SLC6A8

SLC6A1    SLC6A7    SLC6A11    SLC6A12    SLC6A13    SLC6A5

Find genes that share paralogs with SLC6A20           About GenesLikeMe


1 Pseudogenes.org Pseudogene for SLC6A20
PGOHUM00000259827

Genomic Variants
for SLC6A20 gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for SLC6A20 (see all 961)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs172794371,2,,4	C,F,H	pathogenic1	45745015(+)	ACGCCG/ATGAAA	3	/T /M	int1 mis1 ese3		19		NA NS EA EU	2957
rs1887752441,2		--	45727415(+)	CACTCA/CCCCCT	2	--	ds5001		0	--	--	--	--
rs1443045731,2	C	--	45727488(+)	AGAGAC/TGCTGA	2	--	ds5001		0	--	--	--	--
rs1808029191,2	C	--	45727546(+)	TGCAGC/TAATTC	2	--	ds5001		0	--	--	--	--
rs22510211,2	C,F,O,H	--	45727580(-)	TTGGCC/TGGATT	2	--	ds5001		41		EA NS NA CSA WA	5298
rs754718771,2	C,F	--	45727617(+)	TGTGGA/TCTCTA	2	--	ds5001		1		WA	118
rs1510275681,2		--	45727669(+)	TGGTGC/TGGTCT	2	--	ds5001		0	--	--	--	--
rs744106751,2	C	--	45727688(+)	ATATGA/CAGAGG	2	--	ds5001		0	--	--	--	--
rs1854706771,2		--	45727725(+)	AAAGGA/TTGGAT	2	--	ds5001		0	--	--	--	--
rs1409240121,2	C	--	45727801(+)	ATCTTA/GTGTTG	2	--	ds5001		0	--	--	--	--

HapMap Linkage Disequilibrium report for SLC6A20 (45796941 - 45838035 bp)

Structural Variations
     Database of Genomic Variants (DGV) 9 variations for SLC6A20:    About this table    

Variant ID	Type	Subtype	PubMed ID
esv2192183	CNV	Deletion	18987734
esv2725225	CNV	Deletion	23290073
esv2725226	CNV	Deletion	23290073
esv2670527	CNV	Deletion	23128226
esv1614687	CNV	Deletion	17803354
esv267840	CNV	Insertion	20981092
nsv876735	CNV	Loss	21882294
nsv834678	CNV	Gain	17160897
nsv876734	CNV	Gain	21882294

Human Gene Mutation Database (HGMD): SLC6A20

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing SLC6A20

DNA2.0 Custom Variant and Variant Library Synthesis for SLC6A20

Disorders / Diseases
for SLC6A20 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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Publications
for SLC6A20 gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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1. The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3. (PubMed id 11352561)^{1, 2, 3} Kiss H.... Dumanski J.P. (Genomics 2001)
2. Cloning, gene structure, and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms. (PubMed id 9932288)^{1, 2, 3} Nash S.R.... Caron M.G. (Recept. Channels 1998)
3. Identification of mammalian proline transporter SIT1 (SLC6A20) with characteristics of classical system imino. (PubMed id 15632147)^{1, 2, 9} Takanaga H.... Hediger M.A. (J. Biol. Chem. 2005)
4. A genome-wide association study of metabolic traits in human urine. (PubMed id 21572414)^{1, 4} Suhre K....Nauck M. (Nat. Genet. 2011)
5. Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. (PubMed id 19033659)^{1, 2} Broer S.... Rasko J.E. (J. Clin. Invest. 2008)
6. Sodium translocation by the iminoglycinuria associated imino transporter (SLC6A20). (PubMed id 19657969)^{1, 9} BrAPer A....BrAPer S. (Mol. Membr. Biol. 2009)
7. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. (PubMed id 22610502)¹ Kennedy R.B....Poland G.A. (Hum. Genet. 2012)
8. Amino acid transport across mammalian intestinal and renal epithelia. (PubMed id 18195088)¹ BrAPer S. (Physiol. Rev. 2008)
9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S.... Malek J. (Genome Res. 2004)
10. Differential sensitivity of v-Myb and c-Myb to Wnt-1-induced protein degradation. (PubMed id 15308626)¹ Kanei-Ishii C....Ishii S. (J. Biol. Chem. 2004)

External Searches for SLC6A20 gene

Genome Databases showing SLC6A20 gene

Other Databases showing SLC6A20 gene

Specialized Databases showing SLC6A20 gene

Products
for SLC6A20 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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