Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms of Use
- Terms of Use
- 3rd Party Notice
About Us
- GeneCards Team
- Our Publications
- Citing GeneCards
- Licensing Agreement
- Weizmann Institute
- LifeMap Sciences Inc
User Feedback
GeneCards Plus
- Premium Tools
  
  Learn more

Set Analyses:

VarElect

Advanced Search

SLC6A20 Gene

protein-coding GIFtS: 53
GCID: GC03M045796

Solute Carrier Family 6 (Proline IMINO Transporter), Member...

See related diseases
at

MalaCards

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

TryGeneCards Plus

Aliases
Solute Carrier Family 6 (Proline IMINO Transporter), Member 20¹ ²		Orphan Transporter XT3²
XT3² ³ ⁵		Sodium- And Chloride-Dependent Transporter XTRP3²
Sodium/Imino-Acid Transporter 1² ³		Solute Carrier Family 6 (Neurotransmitter Transporter), Member 20²
Transporter RB21A Homolog² ³		X Transporter Protein 3²
SIT1² ³		XTRP3³
Xtrp3²		Solute Carrier Family 6 Member 20³
Neurotransmitter Transporter RB21A²

External Ids:	HGNC: 30927¹	Entrez Gene: 54716²	Ensembl: ENSG00000163817⁷	OMIM: 605616⁵	UniProtKB: Q9NP91³

Export aliases for SLC6A20 gene to outside databases

Previous GC identifers: GC03M045758 GC03M045771

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for SLC6A20 Gene:

Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter

proteins which have been classified into several families of related genes. The protein encoded by this gene is a

member of the subgroup of transporter with unidentified substrates within the Na+ and Cl- coupled transporter

family. This gene is expressed in kidney, and its alternative splicing generates 2 transcript variants. (provided

by RefSeq, Jul 2008)

GeneCards Summary for SLC6A20 Gene:

SLC6A20 (solute carrier family 6 (proline IMINO transporter), member 20) is a protein-coding gene. Diseases associated with SLC6A20 include slc6a20-related hyperglycinuria, and iminoglycinuria. GO annotations related to this gene include neurotransmitter:sodium symporter activity and amino acid transmembrane transporter activity. An important paralog of this gene is SLC6A15.

UniProtKB/Swiss-Prot: S6A20_HUMAN, Q9NP91

Function: Mediates the calcium-dependent uptake of imino acids such as L-proline, N-methyl-L-proline and

pipecolate as well as N-methylated amino acids. Involved in the transport of glycine

Gene Wiki entry 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)
About This Section

TryGeneCards Plus

RefSeq DNA sequence:

NC_000003.12 NT_022517.19 NC_018914.2

Regulatory elements:

Regulatory transcription factor binding sites in the SLC6A20 gene promoter:
ATF-2 FOXO3 FOXO3b PPAR-gamma1 E2F-1 E2F FOXO4 FOXO3a PPAR-gamma2 Hlf
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC6A20 promoter sequence

Search Chromatin IP Primers for SLC6A20

Epigenetics:

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

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.3 Ensembl cytogenetic band: 3p21.31 HGNC cytogenetic band: 3p21.6

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

GeneLoc information about chromosome 3 GeneLoc Exon Structure

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

Start:	45,796,941 bp from pter	End:	45,838,035 bp from pter
Size:	41,095 bases	Orientation:	minus strand

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: S6A20_HUMAN, Q9NP91 (See protein sequence)

Recommended Name: Sodium- and chloride-dependent transporter XTRP3

Size: 592 amino acids; 65914 Da

Sequence caution: Sequence=AAL75944.1; Type=Erroneous initiation;

Secondary accessions: A1A4F2 O75590 Q8TF10 Q9NPQ2 Q9NQ77

Alternative splicing: 2 isoforms: Q9NP91-1 Q9NP91-2

Explore the universe of human proteins at neXtProt for SLC6A20: NX_Q9NP91

Explore proteomics data for SLC6A20 at MOPED

Post-translational modifications:

Glycosylation² at Asn131, Asn357

Modification sites at PhosphoSitePlus

See SLC6A20 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_064593.1 NP_071800.1

ENSEMBL proteins:

ENSP00000296133 ENSP00000346298 ENSP00000395506 ENSP00000404310

Reactome Protein details: Q9NP91

SLC6A20 Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate for SLC6A20 OriGene Custom MassSpec OriGene Custom Protein Services for SLC6A20
	GenScript Custom Purified and Recombinant Proteins Services for SLC6A20
	Novus Biologicals SLC6A20 Proteins Novus Biologicals SLC6A20 Lysate
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Cloud-Clone Corp.

SLC6A20 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for SLC6A20
	Novus Biologicals SLC6A20 Antibodies
	Abcam antibodies for SLC6A20
	Browse Antibodies at Cloud-Clone Corp.
	Search ThermoFisher Antibodies for SLC6A20
	Search LSBio for Antibodies for SLC6A20

SLC6A20 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for SLC6A20
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for SLC6A20
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TryGeneCards Plus

HGNC Gene Families:

SLC: Solute carriers

IUPHAR Guide to PHARMACOLOGY protein family classification: SIT1

Neutral amino acid transporter subfamily

2 InterPro protein domains:

IPR000175 Na/ntran_symport

IPR002438 Na/ntran_symport_orphan

Graphical View of Domain Structure for InterPro Entry Q9NP91

ProtoNet protein and cluster: Q9NP91

1 Blocks protein domain: IPB002438 Orphan neurotransmitter transporter signature

UniProtKB/Swiss-Prot: S6A20_HUMAN, Q9NP91

Similarity: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A20 subfamily

SLC6A20 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Molecular Function:

UniProtKB/Swiss-Prot Summary: S6A20_HUMAN, Q9NP91

Function: Mediates the calcium-dependent uptake of imino acids such as L-proline, N-methyl-L-proline and

pipecolate as well as N-methylated amino acids. Involved in the transport of glycine

Gene Ontology (GO): 2 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005328	neurotransmitter:sodium symporter activity	IEA	--
GO:0015171	amino acid transmembrane transporter activity	IDA	15632147

SLC6A20 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for SLC6A20:

Decreased viability of wild-ty

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC6A20

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SLC6A20

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC6A20

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC6A20

miRNA Products:		Block miRNA regulation of human, mouse, rat SLC6A20 using miScript Target Protectors
		6 qRT-PCR Assays for microRNAs that regulate SLC6A20:
		hsa-miR-183* hsa-miR-610 hsa-miR-571 hsa-let-7g* hsa-miR-3674 hsa-let-7a-2*
		SwitchGear 3'UTR luciferase reporter plasmid: SLC6A20 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for SLC6A20
		Predesigned siRNA for gene silencing in human, mouse, rat SLC6A20

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for SLC6A20

Clone Products:		OriGene clones in human, mouse for SLC6A20 (see all 11) OriGene ORF clones in mouse, rat for SLC6A20 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): SLC6A20 (NM_022405)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC6A20
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC6A20

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SLC6A20
		Browse ESI BIO Cell Lines and PureStem Progenitors for SLC6A20

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A20

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Subcellular locations from UniProtKB/Swiss-Prot

S6A20_HUMAN, Q9NP91: Apical cell membrane; Multi-pass membrane protein (By similarity). Note=Located in the

apical brush border membrane of kidney proximal tubule cells (By similarity)

Subcellular locations from COMPARTMENTS:

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

About this image

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral component of plasma membrane	IEA	--
GO:0016021	integral component of membrane	--	--
GO:0016324	apical plasma membrane	ISS	--

SLC6A20 for ontologies About GeneDecksing

(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 GeneDecks, 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).
About This Section

TryGeneCards Plus

SuperPaths for SLC6A20 About

See pathways by source

SuperPath

Contained pathways About

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

Pathways by source See SuperPaths
Show all pathways

2 Reactome Pathways for SLC6A20

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

SLC6A20 for pathways About GeneDecksing

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for SLC6A20
Interactions:

Search GeneGlobe Interaction Network for SLC6A20

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003333	amino acid transmembrane transport	--	--
GO:0006811	ion transport	TAS	--
GO:0006836	neurotransmitter transport	--	--
GO:0006865	amino acid transport	TAS	--
GO:0015816	glycine transport	IMP	19033659

SLC6A20 for ontologies About GeneDecksing

(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)
About This Section

TryGeneCards Plus

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for SLC6A20 (S6A20)

2 HMDB Compounds for SLC6A20 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--
Sodium	Sodium (see all 2)	7440-23-5	--

(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,
Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
About This Section

TryGeneCards Plus

REFSEQ mRNAs for SLC6A20 gene (2 alternative transcripts):

NM_020208.3 NM_022405.3

Unigene Cluster for SLC6A20:

Solute carrier family 6 (proline IMINO transporter), member 20

Hs.413095 [show with all ESTs]

Unigene Representative Sequence: NM_020208

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000353278(uc003cow.3) ENST00000358525(uc011bai.2 uc011baj.2)

ENST00000473146 ENST00000493980 ENST00000413781 ENST00000470226 ENST00000456124

miRNA Products:		Block miRNA regulation of human, mouse, rat SLC6A20 using miScript Target Protectors
		6 qRT-PCR Assays for microRNAs that regulate SLC6A20:
		hsa-miR-183* hsa-miR-610 hsa-miR-571 hsa-let-7g* hsa-miR-3674 hsa-let-7a-2*
		SwitchGear 3'UTR luciferase reporter plasmid: SLC6A20 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for SLC6A20
		Predesigned siRNA for gene silencing in human, mouse, rat SLC6A20

Clone Products:		OriGene clones in human, mouse for SLC6A20 (see all 11) OriGene ORF clones in mouse, rat for SLC6A20 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): SLC6A20 (NM_022405)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC6A20
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC6A20

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for SLC6A20
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat SLC6A20
		QuantiTect SYBR Green Assays in human, mouse, rat SLC6A20
		Search QuantiFast Probe-based Assays in human, mouse, rat SLC6A20

Additional mRNA sequence:

AF075260.1 AJ276207.1 AJ276208.1 AL389979.1 BC036073.1 BC126197.1 BC136431.1 BC144087.1

5 DOTS entries:

DT.101979329 DT.95165442 DT.40201073 DT.100748350 DT.95260371

Selected AceView cDNA sequences (see all 53):

NM_022405 BM707737 AW137313 AI733761 NM_020208 CA394539 CB241149 CD643407

AI569553 AF125107 AL389979 AI269820 AI364647 CB853385 AA296916 AI761527

AJ276208 BI544266 AF075260 AI732605 BQ956246 BC036073 AJ276207 BF724647

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A20 About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6	^	7	^	8a	·	8b	^	9	^	10	^	11	^	12	^	13a	·	13b
SP1:					-		-										-
SP2:
SP3:

ECgene alternative splicing isoforms for SLC6A20

(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 GeneDecks, 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)
About This Section

TryGeneCards Plus

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

SLC6A20 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 5) fully expand


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)

SLC6A20 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

SLC6A20 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.413095

UniProtKB/Swiss-Prot: S6A20_HUMAN, Q9NP91

Tissue specificity: Kidney and small intestine. Expressed in the S3 segment of the proximal tubule

Custom PCR Arrays for SLC6A20

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for SLC6A20
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat SLC6A20
		QuantiTect SYBR Green Assays in human, mouse, rat SLC6A20
		Search QuantiFast Probe-based Assays in human, mouse, rat SLC6A20

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A20

(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)
About This Section

TryGeneCards Plus

This gene was present in the common ancestor of animals.

Orthologs for SLC6A20 gene from Selected species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Slc6a20a^{1 , 5}	solute carrier family 6 (neurotransmitter transporter), more^{1, 5}	87.84(n)¹ 92.06(a)¹		9 (74.26 cM)⁵ 102680¹ NM_139142.2¹ NP_631881.1¹ 123636122⁵
chicken (Gallus gallus)	Aves	SLC6A20¹	solute carrier family 6 (proline IMINO transporter), more	78.66(n) 83.28(a)		420699 XM_418798.3 XP_418798.3
lizard (Anolis carolinensis)	Reptilia	SLC6A20⁶	solute carrier family 6 (proline IMINO transporter...	80(a)	1 ↔ 1	GL343324.1(221105-246710)
tropical clawed frog (Xenopus tropicalis)	Amphibia	LOC100497079¹	sodium- and chloride-dependent transporter XTRP3A-like	67.35(n) 74.74(a)		100497079 XM_002942525.2 XP_002942571.1
zebrafish (Danio rerio)	Actinopterygii	SLC6A20⁶	solute carrier family 6 (proline IMINO transporter...	33(a)	1 → many	5(22570100-22597916) ENSDARG00000002405
fruit fly (Drosophila melanogaster)	Insecta	ine⁶	inebriated	22(a)	1 ↔ 1	2L(4468000-4477024)
worm (Caenorhabditis elegans)	Secernentea	snf-10⁶	Protein SNF-10 (snf-10) mRNA, complete cds	16(a)	1 ↔ 1	V(10438366-10440795) WBGene00004909

ENSEMBL Gene Tree for SLC6A20 (if available)
TreeFam Gene Tree for SLC6A20 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

TryGeneCards Plus

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

SLC6A20 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for SLC6A20
PGOHUM00000259827

(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)
About This Section

TryGeneCards Plus

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs17279437^1,2,,4	C,F,H	pathogenic¹	45745015(+)	`ACGCCG/ATGAAA`	3	/T /M	int¹ mis¹ ese³		19		NA NS EA EU	2957
rs188775244^1,2		--	45727415(+)	`CACTCA/CCCCCT`	2	--	ds500¹		0	--	--	--	--
rs144304573^1,2	C	--	45727488(+)	`AGAGAC/TGCTGA`	2	--	ds500¹		0	--	--	--	--
rs180802919^1,2	C	--	45727546(+)	`TGCAGC/TAATTC`	2	--	ds500¹		0	--	--	--	--
rs2251021^1,2	C,F,O,H	--	45727580(-)	`TTGGCC/TGGATT`	2	--	ds500¹		41		EA NS NA CSA WA	5298
rs75471877^1,2	C,F	--	45727617(+)	`TGTGGA/TCTCTA`	2	--	ds500¹		1		WA	118
rs151027568^1,2		--	45727669(+)	`TGGTGC/TGGTCT`	2	--	ds500¹		0	--	--	--	--
rs74410675^1,2	C	--	45727688(+)	`ATATGA/CAGAGG`	2	--	ds500¹		0	--	--	--	--
rs185470677^1,2		--	45727725(+)	`AAAGGA/TTGGAT`	2	--	ds500¹		0	--	--	--	--
rs140924012^1,2	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

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TryGeneCards Plus

OMIM gene information: 605616
OMIM disorders: 138500 242600
UniProtKB/Swiss-Prot: S6A20_HUMAN, Q9NP91

Hyperglycinuria (HG) [MIM:138500]: A condition characterized by excess of glycine in the urine. In some

cases it is associated with renal colic and renal oxalate stones. Note=The disease is caused by mutations

affecting the gene represented in this entry

Iminoglycinuria (IG) [MIM:242600]: A disorder of renal tubular reabsorption of glycine and imino acids

(proline and hydroxyproline), marked by excessive levels of all three substances in the urine. Note=The disease

is caused by mutations affecting the gene represented in this entry. Haploinsufficiency of SLC6A20 combined with

deficiency of the neutral amino acid transporter SLC6A19 or partially inactivating mutations in SLC36A2, is

responsible for iminoglycinuria. Additional polymorphisms and mutations in SLC6A18 can contribute to the IG

phenotype in some families

12 diseases for SLC6A20:
About MalaCards

hartnup disease pellagra aminoaciduria smallpox

malignant mesothelioma multiple myeloma myeloma endotheliitis

1 disease from the University of Copenhagen DISEASES database for SLC6A20:

Hartnup disease

SLC6A20 for disorders About GeneDecksing

Genetic Association Database (GAD): SLC6A20

Export disorders for SLC6A20 gene to outside databases

(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)
About This Section

TryGeneCards Plus

PubMed articles for SLC6A20 gene, integrated from 10 sources (see all 15):
(articles sorted by number of sources associating them with SLC6A20)

Utopia: connect your pdf to the dynamic
world of online information

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)
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)
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)
A genome-wide association study of metabolic traits in human urine. (PubMed id 21572414)^{1, 4} Suhre K....Nauck M. (Nat. Genet. 2011)
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)
Sodium translocation by the iminoglycinuria associated imino transporter (SLC6A20). (PubMed id 19657969)^{1, 9} BrAPer A....BrAPer S. (Mol. Membr. Biol. 2009)
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)
Amino acid transport across mammalian intestinal and renal epithelia. (PubMed id 18195088)¹ BrAPer S. (Physiol. Rev. 2008)
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)
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)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

TryGeneCards Plus

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

TryGeneCards Plus

Entrez Gene: 54716	HGNC: 30927	AceView: SLC6A20	Ensembl:ENSG00000163817	euGenes: HUgn54716
ECgene: SLC6A20	H-InvDB: SLC6A20

(According to HUGE)
About This Section

TryGeneCards Plus

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

TryGeneCards Plus

Name	Description
PharmGKB entry for SLC6A20	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SLC6A20 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

TryGeneCards Plus

Patent Information for SLC6A20 gene:
Search GeneIP for patents involving SLC6A20

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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 inGenious Targeting Laboratory, genOway)
About This Section

TryGeneCards Plus


	EMD Millipore genomic analysis products

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Enzyme Activity Assays/Reagents
	Browse ELISpot/FluoroSpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Luminex Assays
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Recombinant/Natural Proteins		Browse Stem Cell Products
	Browse cDNA Clones		Browse Proteome Profiler Antibody Arrays

	Browse OriGene Antibodies		OriGene RNAi products in human, mouse, rat for SLC6A20
	Browse OriGene qPCR primer pairs and template standards		OriGene Protein Over-expression Lysate for SLC6A20
	OriGene Custom Mass Spec		OriGene clones in human, mouse for SLC6A20
	OriGene qSTAR qPCR primer pairs in human, mouse for SLC6A20		Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
	OriGene ORF clones in mouse, rat for SLC6A20		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for SLC6A20		OriGene Custom Protein Services for SLC6A20

	Block miRNA regulation of human, mouse, rat SLC6A20 using miScript Target Protectors		SeqTarget long-range PCR primers for resequencing SLC6A20
	DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC6A20		Predesigned siRNA for gene silencing in human, mouse, rat SLC6A20
	Search QuantiFast Probe-based Assays in human, mouse, rat SLC6A20		QuantiTect SYBR Green Assays in human, mouse, rat SLC6A20
	Custom PCR Arrays for SLC6A20		Search Chromatin IP Primers for SLC6A20
	Pre-validated RT² qPCR Primer Assay in human, mouse, rat SLC6A20		Search GeneGlobe Interaction Network for SLC6A20
	Regulatory tfbs in SLC6A20 promoter

	GenScript Custom Purified and Recombinant Proteins Services for SLC6A20		GenScript cDNA clones with any tag delivered in your preferred vector for SLC6A20
	GenScript Custom Assay Services for SLC6A20		GenScript Custom overexpressing Cell Line Services for SLC6A20
	CloneReady with Over 120,000 Genes		Gene Synthesis: Any Gene in Any Vector
	Vector-based siRNA and miRNA, Ready for Transfection		Gene Mutant Library, Variants up to 10^11
	Plasmid Preparation		Custom Peptide Services

Search for Antibodies & Assays

Search Tocris compounds for SLC6A20 (S6A20)

	Browse Sino Biological Proteins
	Browse Sino Biological Cell Lysates
	Browse Sino Biological cDNA Clones
	4000+ Proteins
	Search Sino Biological for antibodies, proteins & pathways
	Protein Production Services
	Transfection Reagents
	Protein A/G/L resins
	Isotyping reagents

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	SLC6A20 antibodies
	SLC6A20 proteins
	SLC6A20 lysates

	Antibodies for SLC6A20
	See all of Abcam's Antibodies, Kits and Proteins for SLC6A20
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

	Browse Proteins at Cloud-Clone Corp.
	Browse Antibodies at Cloud-Clone Corp.
	Browse ELISAs at Cloud-Clone Corp.
	Browse CLIAs at Cloud-Clone Corp.

Browse ESI BIO Cell Lines and PureStem Progenitors for SLC6A20

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A20

	SwitchGear 3'UTR luciferase reporter plasmids for SLC6A20
	SwitchGear Promoter luciferase reporter plasmids for SLC6A20

Search ThermoFisher Antibodies for SLC6A20

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC6A20

	inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC6A20
	inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SLC6A20

Search LSBio for Antibodies for SLC6A20

Customized transgenic rodents for:

	Humanization
	Biomarker expression
	Off-target effect monitoring
	Translational medicine
	Tissue-specific gene expresssion
	Time-controlled gene expresssion

Browse compounds at ApexBio

GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

View Random Gene

Category			(GIFtS: )
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes SLC6A20 gene at Home site.

Version: 3.12.142 28 July 2014
hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4

GeneCards Plus

Advanced Search

Export list of displayed genes

SLC6A20 Gene

Solute Carrier Family 6 (Proline IMINO Transporter), Member...

Aliases
for SLC6A20 gene

Summaries
for SLC6A20 gene

Genomic Views
for SLC6A20 gene

Proteins
for SLC6A20 gene

SLC6A20 Human Recombinant Protein Products:

SLC6A20 Antibody Products:

SLC6A20 Assay Products:

Domains /
Families
for SLC6A20 gene

Function
for SLC6A20 gene

Localization
for SLC6A20 gene

Pathways & Interactions
for SLC6A20 gene

Drugs & Compounds
for SLC6A20 gene

Transcripts
for SLC6A20 gene

Expression
for SLC6A20 gene

Orthologs
for SLC6A20 gene

Paralogs
for SLC6A20 gene

Genomic Variants
for SLC6A20 gene

Disorders / Diseases
for SLC6A20 gene

Publications
for SLC6A20 gene

External Searches for SLC6A20 gene

Genome Databases showing SLC6A20 gene

Other Databases showing SLC6A20 gene

Specialized Databases showing SLC6A20 gene

Intellectual Property
for SLC6A20 gene

Products
for SLC6A20 gene

View Random Gene

GeneCards Plus

Advanced Search

Export list of displayed genes

SLC6A20 Gene

Solute Carrier Family 6 (Proline IMINO Transporter), Member...

Aliasesfor SLC6A20 gene

Summariesfor SLC6A20 gene

Genomic Viewsfor SLC6A20 gene

Proteinsfor SLC6A20 gene

SLC6A20 Human Recombinant Protein Products:

SLC6A20 Antibody Products:

SLC6A20 Assay Products:

Domains /Familiesfor SLC6A20 gene

Functionfor SLC6A20 gene

Localizationfor SLC6A20 gene

Pathways & Interactionsfor SLC6A20 gene

Drugs & Compoundsfor SLC6A20 gene

Transcriptsfor SLC6A20 gene

Expression for SLC6A20 gene

Orthologsfor SLC6A20 gene

Paralogsfor SLC6A20 gene

Genomic Variantsfor SLC6A20 gene

Disorders / Diseasesfor SLC6A20 gene

Publicationsfor SLC6A20 gene

External Searches for SLC6A20 gene

Genome Databases showing SLC6A20 gene

Other Databases showing SLC6A20 gene

Specialized Databases showing SLC6A20 gene

Intellectual Propertyfor SLC6A20 gene

Productsfor SLC6A20 gene

View Random Gene

Aliases
for SLC6A20 gene

Summaries
for SLC6A20 gene

Genomic Views
for SLC6A20 gene

Proteins
for SLC6A20 gene

Domains /
Families
for SLC6A20 gene

Function
for SLC6A20 gene

Localization
for SLC6A20 gene

Pathways & Interactions
for SLC6A20 gene

Drugs & Compounds
for SLC6A20 gene

Transcripts
for SLC6A20 gene

Expression
for SLC6A20 gene

Orthologs
for SLC6A20 gene

Paralogs
for SLC6A20 gene

Genomic Variants
for SLC6A20 gene

Disorders / Diseases
for SLC6A20 gene

Publications
for SLC6A20 gene

Intellectual Property
for SLC6A20 gene

Products
for SLC6A20 gene