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Aliases for SLC6A18 Gene

Aliases for SLC6A18 Gene

  • Solute Carrier Family 6 Member 18 2 3 4
  • Solute Carrier Family 6 (Neutral Amino Acid Transporter), Member 18 2 3 5
  • 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
  • Xtrp2 3 4
  • Sodium Channel-Like Protein 3

External Ids for SLC6A18 Gene

Previous GeneCards Identifiers for SLC6A18 Gene

  • GC05P001279
  • GC05P001281

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 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. 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

Enhancers for SLC6A18 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLC6A18 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC6A18 Gene

Chromosome:
5
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

Genes around SLC6A18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC6A18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

    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 Asn 144, Asn 168, Asn 174, and Asn 354
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC6A18 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SLC6A18 Gene

Domains & Families 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 :
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A18 subfamily.
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:0005515 protein binding IEA --
GO:0015171 amino acid transmembrane transporter activity IBA,TAS --
genes like me logo Genes that share ontologies with SLC6A18: view
genes like me logo Genes that share phenotypes with SLC6A18: view

Human Phenotype Ontology for SLC6A18 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC6A18 Gene

MGI Knock Outs for SLC6A18:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC6A18

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets 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 5

Gene Ontology (GO) - Cellular Components for SLC6A18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IBA --
genes like me logo Genes that share ontologies with SLC6A18: view

Pathways & Interactions 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:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with SLC6A18: view

No data available for SIGNOR curated interactions for SLC6A18 Gene

Drugs & Compounds for SLC6A18 Gene

(1) Additional Compounds for SLC6A18 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SLC6A18: view

Transcripts for SLC6A18 Gene

mRNA/cDNA for SLC6A18 Gene

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

Unigene Clusters for SLC6A18 Gene

Solute carrier family 6, member 18:
Representative Sequences:

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 (x47.9).

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 expression patterns with SLC6A18: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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
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
chimpanzee
(Pan troglodytes)
Mammalia SLC6A18 35
  • 98.09 (n)
  • 97.45 (a)
SLC6A18 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc6a18 35
  • 80 (n)
  • 77.63 (a)
cow
(Bos Taurus)
Mammalia SLC6A18 36
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC6A18 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC6A18 36
  • 65 (a)
OneToOne
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

S6A18_HUMAN-Q96N87
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 (PubMed:16340170).

Sequence variations from dbSNP and Humsavar for SLC6A18 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_027975 -
VAR_027976 -
rs4073918 - 1,244,310(-) GGTTC(A/G)GGGAA reference, missense
VAR_057210 -
rs113861454 - 1,232,293(+) CCATC(A/G)GCCAG reference, missense

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

Variation tolerance for SLC6A18 Gene

Residual Variation Intolerance Score: 93.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.12; 69.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC6A18 Gene

Human Gene Mutation Database (HGMD)
SLC6A18

Disorders for SLC6A18 Gene

MalaCards: The human disease database

(11) MalaCards diseases for SLC6A18 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
iminoglycinuria, digenic
  • iminoglycinuria
hartnup disorder
  • hartnup disease
histidine metabolism disease
  • disturbances of histidine metabolism
histidinemia
  • histidinuria
gyrate atrophy of choroid and retina with or without ornithinemia
  • gyrate atrophy
- elite association - COSMIC cancer census association via 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 (PubMed:19033659). {ECO:0000269 PubMed:19033659}.

Relevant External Links for SLC6A18

Genetic Association Database (GAD)
SLC6A18
Human Genome Epidemiology (HuGE) Navigator
SLC6A18
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC6A18
genes like me logo Genes that share disorders with SLC6A18: view

No data available for Genatlas for SLC6A18 Gene

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 67
  2. Orphan transporter SLC6A18 is renal neutral amino acid transporter B0AT3. (PMID: 19478081) Singer D. … Verrey F. (J. Biol. Chem. 2009) 2 3
  3. Novel candidate genes putatively involved in stress fracture predisposition detected by whole-exome sequencing. (PMID: 25023003) Friedman E. … Atzmon G. (Genet Res (Camb) 2014) 3
  4. Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. (PMID: 25086665) Wolpin B.M. … Amundadottir L.T. (Nat. Genet. 2014) 3
  5. Association study: SLC6A18 gene and myocardial infarction. (PMID: 21420947) Matsumoto K. … Aoi N. (Clin. Biochem. 2011) 3

Products for SLC6A18 Gene

Sources for SLC6A18 Gene

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