SLC6A7 Gene

Aliases
for SLC6A7 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: GC05P149640 GC05P150156 GC05P149598 GC05P149549 GC05P144717

Summaries
for SLC6A7 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 SLC6A7 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_000005.9  NC_018916.2  NT_029289.12  

SwitchGear Promoter luciferase reporter plasmid: SLC6A7 promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC6A7

SLC6A7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P149569:  view genomic region     (about GC identifiers)

Proteins
for SLC6A7 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 SLC6A7: NX_Q99884

Explore proteomics data for SLC6A7 at MOPED

Post-translational modifications: 

SLC6A7 Human Recombinant Protein Products:

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Domains /
Families
for SLC6A7 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: Q99884

Find genes that share domains with SLC6A7           About GenesLikeMe

Function
for SLC6A7 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): 1 molecular function term:    About this table

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Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for SLC6A7

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A7

Localization
for SLC6A7 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	4
cytosol	2
mitochondrion	2
nucleus	2
endoplasmic reticulum	1
extracellular	1

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

Pathways & Interactions
for SLC6A7 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 SLC6A7 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 glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 0.38 Transmembrane transport of small molecules 0.47 Na+/Cl- dependent neurotransmitter transporters 0.00
2	Metabolism of amino acids and derivatives	Metabolism of amino acids and derivatives Creatine metabolism 0.00
3	Metabolism	Metabolism 0.38

2 Reactome Pathways for SLC6A7

	Creatine metabolism
	Na+/Cl- dependent neurotransmitter transporters

Gene Ontology (GO): 4 biological process terms:    About this table

Drugs & Compounds
for SLC6A7 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 SLC6A7 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 SLC6A7 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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SLC6A7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CACACAGCAT

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Inner Cell Mass (Early Embryonic Tissues)
Blimp1- mVenus and stella-ECFP genetically modified stem cells

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A7

Orthologs
for SLC6A7 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 SLC6A7 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 SLC6A7 gene

SLC6A6²  SLC6A11²  SLC6A12²  SLC6A8²  SLC6A5²  SLC6A14²  SLC6A3²  SLC6A1²  

SLC6A4²  SLC6A13²  SLC6A2²  SLC6A9²  

Selected SIMAP similar genes for SLC6A7 using alignment to 2 protein entries:     SC6A7_HUMAN (see all proteins) (see all similar genes):

SLC6A4    SLC6A9    SLC6A1    SLC6A3    SLC6A6    SLC6A12

SLC6A5    SLC6A11    SLC6A13    SLC6A14    SLC6A2    DAT1

SLC6A8    5HTT    SLC6A15    SLC6A19    SLC6A18    SLC6A16

Find genes that share paralogs with SLC6A7           About GenesLikeMe

Genomic Variants
for SLC6A7 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 SLC6A7 (see all 670)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1438903721,2	C	--	149567591(+)	GGCTGC/TGGGGA	1	--	us2k1		0	--	--	--	--
rs797258941,2	C,F	--	149567642(+)	AGCCTG/TGGTGA	1	--	us2k1		3		WA NA EA	358
rs1472519661,2		--	149567657(+)	AGACTC/TCTAGG	1	--	us2k1		0	--	--	--	--
rs1113733891,2	F	--	149567700(+)	TGAGTG/AATTTT	1	--	us2k1		2		CSA WA	119
rs774826981,2	C,F	--	149567747(+)	TGAAAG/AGCATG	1	--	us2k1		1		WA	118
rs1155347741,2	C,F	--	149567916(+)	GAAGGG/ATCATA	1	--	us2k1		1		WA	118
rs37760831,2	C,F,H	--	149567970(+)	TGCTCG/ACTGTC	1	--	us2k1		22		NS EA NA WA CSA	2226
rs1406811291,2		--	149568049(+)	CAAGGC/TTGAGC	1	--	us2k1		0	--	--	--	--
rs745321141,2	C,F	--	149568072(+)	AGATGC/TATTGA	1	--	us2k1		2		WA NA	238
rs37760841,2	C,F,H	--	149568093(+)	GTGAGG/AGATGG	1	--	us2k1 tfbs3		24		EA NS NA WA CSA	3848

HapMap Linkage Disequilibrium report for SLC6A7 (149569520 - 149602351 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for SLC6A7:    About this table    

Variant ID	Type	Subtype	PubMed ID
nsv462487	CNV	Loss	19166990
nsv883027	CNV	Loss	21882294
nsv883030	CNV	Loss	21882294

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing SLC6A7

DNA2.0 Custom Variant and Variant Library Synthesis for SLC6A7

Disorders / Diseases
for SLC6A7 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 SLC6A7 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. Human brain-specific L-proline transporter: molecular cloning, functional expression, and chromosomal localization of the gene in human and mouse genomes. (PubMed id 7651355)^{1, 2, 3, 9} Shafqat S.... Fremeau R.T. Jr. (Mol. Pharmacol. 1995)
2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)^{1, 4} Rose J.E....Uhl G.R. (Mol. Med. 2010)
3. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)^{1, 4} Yokoyama K....Hosoya T. (Nephron Clin Pract 2010)
4. A new association between polymorphisms of the SLC6A7 gene in the chromosome 5q31-32 region and asthma. (PubMed id 20431603)^{1, 4} Kim J.H....Shin H.D. (J. Hum. Genet. 2010)
5. Genetical genomic determinants of alcohol consumption in rats and humans. (PubMed id 19874574)^{1, 4} Tabakoff B....Hoffman P.L. (BMC Biol. 2009)
6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
7. Mammalian brain-specific L-proline transporter. Neuronal localization of mRNA and enrichment of transporter protein in synaptic plasma membranes. (PubMed id 7797577)^{1, 9} Velaz-Faircloth M....Fremeau R.T. (J. Biol. Chem. 1995)
8. Drugs, their targets and the nature and number of drug targets. (PubMed id 17016423)⁷ Imming P....Meyer A. (Nat Rev Drug Discov 2006)
9. How many drug targets are there? (PubMed id 17139284)⁷ Overington J.P....Hopkins A.L. (Nat Rev Drug Discov 2006)
10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (Nat. Genet. 2004)

External Searches for SLC6A7 gene

Genome Databases showing SLC6A7 gene

Other Databases showing SLC6A7 gene

Specialized Databases showing SLC6A7 gene

Products
for SLC6A7 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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