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Aliases for SLC6A18 Gene

Aliases for SLC6A18 Gene

  • Solute Carrier Family 6 (Neutral Amino Acid Transporter), Member 18 2 3
  • Xtrp2 3 4 6
  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 18 2 3
  • Sodium- And Chloride-Dependent Transporter XTRP2 3 4
  • System B(0) Neutral Amino Acid Transporter AT3 3 4
  • Solute Carrier Family 6, Member 18 2 3
  • Sodium-Dependent Neutral Amino Acid Transporter B(0)AT3 3
  • Solute Carrier Family 6 Member 18 4
  • Sodium Channel-Like Protein 3

External Ids for SLC6A18 Gene

Previous GeneCards Identifiers for SLC6A18 Gene

  • GC05P001279

Summaries for SLC6A18 Gene

Entrez Gene Summary for SLC6A18 Gene

  • The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Apr 2010]

GeneCards Summary for SLC6A18 Gene

SLC6A18 (Solute Carrier Family 6 (Neutral Amino Acid Transporter), Member 18) is a Protein Coding gene. Diseases associated with SLC6A18 include iminoglycinuria, digenic and hartnup disorder. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include neurotransmitter:sodium symporter activity. An important paralog of this gene is SLC6A20.

UniProtKB/Swiss-Prot for SLC6A18 Gene

  • Functions as a sodium and chloride-dependent neutral amino acid transporter.

Gene Wiki entry for SLC6A18 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC6A18 Gene

Genomics for SLC6A18 Gene

Regulatory Elements for SLC6A18 Gene

Genomic Location for SLC6A18 Gene

Start:
1,225,355 bp from pter
End:
1,246,189 bp from pter
Size:
20,835 bases
Orientation:
Plus strand

Genomic View for SLC6A18 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC6A18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC6A18 Gene

Proteins for SLC6A18 Gene

  • Protein details for SLC6A18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96N87-S6A18_HUMAN
    Recommended name:
    Sodium-dependent neutral amino acid transporter B(0)AT3
    Protein Accession:
    Q96N87
    Secondary Accessions:

    Protein attributes for SLC6A18 Gene

    Size:
    628 amino acids
    Molecular mass:
    70897 Da
    Quaternary structure:
    • Associates with TMEM27. TMEM27 association is required for functional expression in kidney.

neXtProt entry for SLC6A18 Gene

Proteomics data for SLC6A18 Gene at MOPED

Post-translational modifications for SLC6A18 Gene

  • Glycosylation at Asn144, Asn168, Asn174, and Asn354
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC6A18 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC6A18 Gene

Domains for SLC6A18 Gene

Gene Families for SLC6A18 Gene

Protein Domains for SLC6A18 Gene

Suggested Antigen Peptide Sequences for SLC6A18 Gene

Graphical View of Domain Structure for InterPro Entry

Q96N87

UniProtKB/Swiss-Prot:

S6A18_HUMAN :
  • Q96N87
Family:
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A18 subfamily.
genes like me logo Genes that share domains with SLC6A18: view

Function for SLC6A18 Gene

Molecular function for SLC6A18 Gene

UniProtKB/Swiss-Prot Function: Functions as a sodium and chloride-dependent neutral amino acid transporter.

Gene Ontology (GO) - Molecular Function for SLC6A18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005328 neurotransmitter:sodium symporter activity IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with SLC6A18: view
genes like me logo Genes that share phenotypes with SLC6A18: view

Animal Models for SLC6A18 Gene

MGI Knock Outs for SLC6A18:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC6A18

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for SLC6A18 Gene

Localization for SLC6A18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC6A18 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC6A18 Gene COMPARTMENTS Subcellular localization image for SLC6A18 gene
Compartment Confidence
plasma membrane 4
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SLC6A18 Gene

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:0031526 brush border membrane IEA --
genes like me logo Genes that share ontologies with SLC6A18: view

Pathways for SLC6A18 Gene

genes like me logo Genes that share pathways with SLC6A18: view

Interacting Proteins for SLC6A18 Gene

Gene Ontology (GO) - Biological Process for SLC6A18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003333 amino acid transmembrane transport IEA --
GO:0006811 ion transport TAS --
GO:0006836 neurotransmitter transport IEA --
GO:0006865 amino acid transport TAS --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with SLC6A18: view

Compounds for SLC6A18 Gene

(1) HMDB Compounds for SLC6A18 Gene

Compound Synonyms Cas Number PubMed IDs
Sodium
  • Sodium
7440-23-5
genes like me logo Genes that share compounds with SLC6A18: view

Transcripts for SLC6A18 Gene

mRNA/cDNA for SLC6A18 Gene

(11) Selected AceView cDNA sequences:
(3) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC6A18 Gene

Solute carrier family 6, member 18:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC6A18

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for SLC6A18

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A18 Gene

No ASD Table

Relevant External Links for SLC6A18 Gene

GeneLoc Exon Structure for
SLC6A18
ECgene alternative splicing isoforms for
SLC6A18

Expression for SLC6A18 Gene

mRNA expression in normal human tissues for SLC6A18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC6A18 Gene

This gene is overexpressed in Kidney - Cortex (47.9).

SOURCE GeneReport for Unigene cluster for SLC6A18 Gene Hs.213284

mRNA Expression by UniProt/SwissProt for SLC6A18 Gene

Q96N87-S6A18_HUMAN
Tissue specificity: Abundantly expressed in kidney, but not in intestine.
genes like me logo Genes that share expressions with SLC6A18: view

In Situ Assay Products

No data available for Protein expression for SLC6A18 Gene

Orthologs for SLC6A18 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC6A18 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC6A18 35
  • 98.09 (n)
  • 97.45 (a)
SLC6A18 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC6A18 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC6A18 35
  • 81.13 (n)
  • 78.05 (a)
SLC6A18 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc6a18 35
  • 80.06 (n)
  • 77.63 (a)
Slc6a18 16
Slc6a18 36
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC6A18 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC6A18 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc6a18 35
  • 80 (n)
  • 77.63 (a)
chicken
(Gallus gallus)
Aves LOC100858092 35
  • 66.2 (n)
  • 64.41 (a)
SLC6A18 36
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii slc6a18 35
  • 66.49 (n)
  • 61.46 (a)
slc6a18 36
  • 58 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000637 35
  • 53.04 (n)
  • 46.19 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10804 35
  • 52.19 (n)
  • 45.16 (a)
CG10804 36
  • 35 (a)
ManyToMany
CG43066 36
  • 36 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
OneToMany
Species with no ortholog for SLC6A18:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLC6A18 Gene

ENSEMBL:
Gene Tree for SLC6A18 (if available)
TreeFam:
Gene Tree for SLC6A18 (if available)

Paralogs for SLC6A18 Gene

Paralogs for SLC6A18 Gene

genes like me logo Genes that share paralogs with SLC6A18: view

Variants for SLC6A18 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A18 Gene

Q96N87-S6A18_HUMAN
Genetic variation in SLC6A18 is not a significant predictor for elevated systolic or diastolic blood pressure and is not associated with hypertension in the Japanese population

Sequence variations from dbSNP and Humsavar for SLC6A18 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs4073216 -- 1,229,997(-) GCACC(A/G)TGATA intron-variant
rs4073217 -- 1,229,957(-) CGTGA(C/G/T)AGCCC intron-variant
rs4073918 - 1,244,310(-) GGTTC(A/G)GGGAA reference, missense
rs4075202 -- 1,243,360(+) ACCCT(A/C)CCCTG intron-variant
rs4075300 -- 1,228,838(-) CTGGA(C/G)TACAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC6A18 Gene

Variant ID Type Subtype PubMed ID
dgv5909n71 CNV Loss 21882294
dgv5912n71 CNV Gain 21882294
nsv881117 CNV Loss 21882294
nsv509044 CNV Insertion 20534489
nsv510895 CNV Complex 20534489
nsv880345 CNV Loss 21882294
dgv5914n71 CNV Loss 21882294
dgv5915n71 CNV Loss 21882294
nsv881658 CNV Gain 21882294
nsv880847 CNV Loss 21882294
dgv5916n71 CNV Loss 21882294
dgv963e201 CNV Deletion 23290073
esv2729447 CNV Deletion 23290073
esv2729449 CNV Deletion 23290073
esv2729451 CNV Deletion 23290073
esv2676695 CNV Deletion 23128226
esv2673732 CNV Deletion 23128226
esv2729452 CNV Deletion 23290073
esv2729453 CNV Deletion 23290073
esv1141661 CNV Insertion 17803354

Relevant External Links for SLC6A18 Gene

HapMap Linkage Disequilibrium report
SLC6A18
Human Gene Mutation Database (HGMD)
SLC6A18

Disorders for SLC6A18 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for SLC6A18 Gene including...

Search for SLC6A18 Gene in MalaCards »

UniProtKB/Swiss-Prot

S6A18_HUMAN
  • Note=Genetic variations in SLC6A18 might contribute to the disease phentotype in some individuals with iminoglycinuria or hyperglycinuria, that carry variants in SLC36A2, SLC6A19 or SLC6A20.

Relevant External Links for SLC6A18

Genetic Association Database (GAD)
SLC6A18
Human Genome Epidemiology (HuGE) Navigator
SLC6A18
genes like me logo Genes that share disorders with SLC6A18: view

Publications for SLC6A18 Gene

  1. A nonsense polymorphism (Y319X) of the solute carrier family 6 member 18 (SLC6A18) gene is not associated with hypertension and blood pressure in Japanese. (PMID: 16340170) Eslami B. … Koizumi A. (Tohoku J. Exp. Med. 2006) 3 4 48
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Mutations in SLC6A19, encoding B(0)AT1, cause Hartnup disorder. (PMID: 15286787) Kleta R. … Koizumi A. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Analysis of VNTRs in the solute carrier family 6, member 18 (SLC6A18) and lack of association with hypertension. (PMID: 18554081) Yoon Y.H. … Leem S.H. (DNA Cell Biol. 2008) 3 48

Products for SLC6A18 Gene

  • antibodies-online peptides for SLC6A18
  • antibodies-online antibodies for SLC6A18
  • antibodies-online kits for SLC6A18

Sources for SLC6A18 Gene

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