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Aliases for SLC6A18 Gene

Aliases for SLC6A18 Gene

  • Solute Carrier Family 6 Member 18 2 3 4 5
  • Solute Carrier Family 6 (Neutral Amino Acid Transporter), Member 18 2 3
  • 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
  • Xtrp2 3 4
  • Sodium-Dependent Neutral Amino Acid Transporter B(0)AT3 3
  • Solute Carrier Family 6, Member 18 2
  • 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 Hartnup Disorder and Hyperglycinuria. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and NRF2 pathway. GO annotations related to this gene include neurotransmitter:sodium symporter activity. An important paralog of this gene is SLC6A19.

UniProtKB/Swiss-Prot for SLC6A18 Gene

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

Gene Wiki entry for SLC6A18 Gene

Additional gene information for SLC6A18 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H001180 2 FANTOM5 Ensembl ENCODE dbSUPER 13 -41.4 -41423 6 HDGF FOXA2 PKNOX1 MLX ARNT ARID4B YBX1 YY1 ZNF766 SP5 CTD-3080P12.3 SLC6A19 SLC6A18 SLC6A3 BRD9 TRIP13
GH05H001312 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11 +89.6 89598 5 PKNOX1 FOXA2 SIN3A YY1 ETS1 GLIS2 ZNF143 ZNF207 ATF7 KLF7 BRD9 SLC6A3 LOC100132773 EXOC3 SLC6A18 TERT GC05M001307 GC05P001335
GH05H001199 1.6 FANTOM5 ENCODE dbSUPER 12.5 -22.9 -22860 6 HDGF PKNOX1 ARNT ARID4B ZBTB7B ZNF766 ZNF143 MCM3 MCM5 REST LOC100132773 LOC100421419 BRD9 SLC6A18 EXOC3 CTD-3080P12.3 ENSG00000271119 CCDC127 ENSG00000250173 SDHAP3
GH05H001511 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.7 +290.6 290649 9 PKNOX1 ZFP64 SIN3A ZBTB7B GLIS2 FOS TSHZ1 ZNF592 SREBF1 GLIS1 SLC6A3 TERT SLC6A18 LPCAT1 CTD-3080P12.3 SLC12A7 MIR6075
GH05H001151 1.3 FANTOM5 ENCODE dbSUPER 11 -72.2 -72243 2 PKNOX1 NFIB ZSCAN4 EBF1 SALL2 CDC5L BMI1 ZIC2 THRB ZBTB7B LOC100421419 BRD9 LOC100132773 CTD-3080P12.3 SLC6A19 ENSG00000250173 SLC6A18 TERT TRIP13 SLC6A3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

Post-translational modifications for SLC6A18 Gene

  • Glycosylation at Asn144, isoforms=168, isoforms=174, and Asn354
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC6A18 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC6A18 Gene

Domains & Families for SLC6A18 Gene

Gene Families for SLC6A18 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

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.

Phenotypes From GWAS Catalog for SLC6A18 Gene

Gene Ontology (GO) - Molecular Function for SLC6A18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IBA --
GO:0005328 neurotransmitter:sodium symporter activity IEA --
GO:0015171 amino acid transmembrane transporter activity TAS --
GO:0015293 symporter activity IEA --
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

  • Taconic Biosciences Mouse Models for SLC6A18

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC6A18
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC6A18: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC6A18 Gene

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:0006810 transport IBA --
GO:0006836 neurotransmitter transport IEA --
GO:0006865 amino acid transport TAS --
GO:0055085 transmembrane transport IEA --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC6A18
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of SLC6A18 Gene:

SLC6A18

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.

Evidence on tissue expression from TISSUES for SLC6A18 Gene

  • Kidney(4.4)
  • Intestine(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC6A18 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • urinary
Organs:
Head and neck:
  • brain
  • eye
  • head
Abdomen:
  • kidney
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
chimpanzee
(Pan troglodytes)
Mammalia SLC6A18 33 34
  • 98.09 (n)
dog
(Canis familiaris)
Mammalia SLC6A18 33 34
  • 81.13 (n)
mouse
(Mus musculus)
Mammalia Slc6a18 33 16 34
  • 80.06 (n)
rat
(Rattus norvegicus)
Mammalia Slc6a18 33
  • 80 (n)
cow
(Bos Taurus)
Mammalia SLC6A18 34
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC6A18 34
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC6A18 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100858092 33
  • 66.2 (n)
SLC6A18 34
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii slc6a18 33 34
  • 66.49 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000637 33
  • 53.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10804 33 34
  • 52.19 (n)
CG43066 34
  • 36 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 23 (a)
OneToMany
Species where no ortholog for SLC6A18 was found in the sources mined by GeneCards:
  • 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
rs1000023003 -- 1,238,954(+) CCGAG(A/G)CAGTT intron-variant
rs1000040210 -- 1,232,439(+) GGCGG(A/G)TCCAT intron-variant
rs1000097700 -- 1,237,710(+) TGGGG(C/T)ACAAA intron-variant
rs1000286069 -- 1,227,620(+) GGCGA(A/G)TATTA intron-variant
rs1000391177 -- 1,225,954(+) CACAC(A/G)CCCTA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1066e214 CNV loss 21293372
dgv346e215 CNV deletion 23714750
dgv916e201 CNV deletion 23290073
esv1141661 CNV insertion 17803354
esv2673732 CNV deletion 23128226
esv2676695 CNV deletion 23128226
esv2729447 CNV deletion 23290073
esv2729449 CNV deletion 23290073
esv2729451 CNV deletion 23290073
esv2729452 CNV deletion 23290073
esv2729453 CNV deletion 23290073
esv3565347 CNV deletion 23714750
esv3575810 CNV gain 25503493
esv3603797 CNV gain 21293372
esv3603801 CNV gain 21293372
esv3894109 CNV gain 25118596
nsv1024507 CNV gain 25217958
nsv1033961 CNV gain 25217958
nsv1074797 CNV deletion 25765185
nsv1133013 OTHER inversion 24896259
nsv1133352 CNV tandem duplication 24896259
nsv1136958 CNV deletion 24896259
nsv1147234 OTHER inversion 26484159
nsv1148212 CNV deletion 26484159
nsv509044 CNV insertion 20534489
nsv510895 OTHER complex 20534489
nsv596629 CNV gain 21841781
nsv950627 CNV deletion 24416366
nsv955857 CNV deletion 24416366

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC6A18

Disorders for SLC6A18 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hartnup disorder
  • hartnup disease
hyperglycinuria
  • glycinuria with or without oxalate nephrolithiasis
dicarboxylic aminoaciduria
  • glutamate-aspartate transport defect
iminoglycinuria, digenic
  • iminoglycinuria
histidine metabolism disease
  • disturbances of histidine metabolism
- 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 (The Tohoku journal of experimental medicine 2006) 3 4 45 60
  2. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey LT … EPICURO/Spanish Bladder Cancer Study investigators (European urology 2010) 3 45 60
  3. Orphan transporter SLC6A18 is renal neutral amino acid transporter B0AT3. (PMID: 19478081) Singer D … Verrey F (The Journal of biological chemistry 2009) 2 3 60
  4. Analysis of VNTRs in the solute carrier family 6, member 18 (SLC6A18) and lack of association with hypertension. (PMID: 18554081) Yoon YH … Leem SH (DNA and cell biology 2008) 3 45 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for SLC6A18 Gene

Sources for SLC6A18 Gene

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