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Aliases for SLC38A6 Gene

Aliases for SLC38A6 Gene

  • Solute Carrier Family 38 Member 6 2 3 4 5
  • Na(+)-Coupled Neutral Amino Acid Transporter 6 3 4
  • N-System Amino Acid Transporter 1 3 4
  • NAT-1 3 4
  • SNAT6 3 4
  • Probable Sodium-Coupled Neutral Amino Acid Transporter 6 3
  • N System Amino Acid Transporter NAT-1 3
  • Solute Carrier Family 38, Member 6 2
  • NAT1 4

External Ids for SLC38A6 Gene

Previous GeneCards Identifiers for SLC38A6 Gene

  • GC14P055241
  • GC14P059437
  • GC14P060517
  • GC14P061447
  • GC14P041611

Summaries for SLC38A6 Gene

GeneCards Summary for SLC38A6 Gene

SLC38A6 (Solute Carrier Family 38 Member 6) is a Protein Coding gene. Diseases associated with SLC38A6 include Combined Oxidative Phosphorylation Deficiency 26. Gene Ontology (GO) annotations related to this gene include amino acid transmembrane transporter activity. An important paralog of this gene is SLC38A4.

UniProtKB/Swiss-Prot for SLC38A6 Gene

  • Probable sodium-dependent amino acid/proton antiporter, could be a neuronal transporter for glutamate.

Additional gene information for SLC38A6 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC38A6 Gene

Genomics for SLC38A6 Gene

GeneHancer (GH) Regulatory Elements for SLC38A6 Gene

Promoters and enhancers for SLC38A6 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J060979 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.1 96 3.9 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 SLC30A9 TRMT5 SLC38A6 ENSG00000258892
GH14J060640 Promoter/Enhancer 2.9 VISTA EPDnew Ensembl ENCODE dbSUPER 31.5 -330.9 -330930 19.2 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 SIX1 TRMT5 SLC38A6 PCNX4 C14orf39 LOC101927702 SIX4 TMEM30B MNAT1 SIX6
GH14J061320 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.8 +356.3 356299 33.6 HDGF PKNOX1 FOXA2 ARNT SIN3A YBX1 FEZF1 ZNF2 IRF4 YY1 PRKCH TRMT5 TMEM30B SLC38A6 LOC105370527 ENSG00000247287 GC14M061347
GH14J061100 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12 +121.8 121789 4.6 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 FOS DEK SP5 SLC38A6 TRMT5 C14orf39 SIX1 PPM1A GC14P061115 LOC101927756
GH14J060734 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.1 -245.4 -245406 3.1 ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SP3 NFYC MNAT1 TRMT5 PCNX4 SLC38A6 RBM8B RNU6-398P MAD2L1P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC38A6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC38A6 gene promoter:
  • Nkx3-1 v4
  • Nkx3-1 v3
  • Nkx3-1 v2
  • Nkx3-1 v1
  • Nkx3-1
  • Cdc5
  • HSF1 (long)
  • HSF1short

Genomic Locations for SLC38A6 Gene

Genomic Locations for SLC38A6 Gene
102,620 bases
Plus strand
102,620 bases
Plus strand

Genomic View for SLC38A6 Gene

Genes around SLC38A6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC38A6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC38A6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC38A6 Gene

Proteins for SLC38A6 Gene

  • Protein details for SLC38A6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Probable sodium-coupled neutral amino acid transporter 6
    Protein Accession:
    Secondary Accessions:
    • C9JWA6
    • Q86SY5

    Protein attributes for SLC38A6 Gene

    456 amino acids
    Molecular mass:
    50929 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC38A6 Gene


neXtProt entry for SLC38A6 Gene

Post-translational modifications for SLC38A6 Gene

  • Glycosylation at isoforms=2283 and posLast=233233
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC38A6 Gene

Domains & Families for SLC38A6 Gene

Gene Families for SLC38A6 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC38A6 Gene


Suggested Antigen Peptide Sequences for SLC38A6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the amino acid/polyamine transporter 2 family.
  • Belongs to the amino acid/polyamine transporter 2 family.
genes like me logo Genes that share domains with SLC38A6: view

Function for SLC38A6 Gene

Molecular function for SLC38A6 Gene

UniProtKB/Swiss-Prot Function:
Probable sodium-dependent amino acid/proton antiporter, could be a neuronal transporter for glutamate.

Phenotypes From GWAS Catalog for SLC38A6 Gene

Gene Ontology (GO) - Molecular Function for SLC38A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015171 amino acid transmembrane transporter activity IBA --
genes like me logo Genes that share ontologies with SLC38A6: view
genes like me logo Genes that share phenotypes with SLC38A6: view

Animal Model Products

CRISPR Products

miRNA for SLC38A6 Gene

miRTarBase miRNAs that target SLC38A6

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC38A6

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC38A6 Gene

Localization for SLC38A6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC38A6 Gene

Cell membrane; Multi-pass membrane protein. Note=Colocalizes with synaptotagmins and SNAP25. {ECO:0000250 UniProtKB:G3UVW3}.

Subcellular locations from

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 SLC38A6 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Microtubules (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC38A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane ISS --
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 SLC38A6: view

Pathways & Interactions for SLC38A6 Gene

SuperPathways for SLC38A6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SLC38A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003333 amino acid transmembrane transport IBA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006865 amino acid transport IEA --
genes like me logo Genes that share ontologies with SLC38A6: view

No data available for Pathways by source and SIGNOR curated interactions for SLC38A6 Gene

Drugs & Compounds for SLC38A6 Gene

(1) Additional Compounds for SLC38A6 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Na(+)
  • Na+
  • SODIUM ion
genes like me logo Genes that share compounds with SLC38A6: view

Transcripts for SLC38A6 Gene

Unigene Clusters for SLC38A6 Gene

Solute carrier family 38, member 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC38A6

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC38A6 Gene

No ASD Table

Relevant External Links for SLC38A6 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SLC38A6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC38A6 Gene

Protein differential expression in normal tissues from HIPED for SLC38A6 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC38A6 Gene

Protein tissue co-expression partners for SLC38A6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC38A6 Gene:


SOURCE GeneReport for Unigene cluster for SLC38A6 Gene:


Evidence on tissue expression from TISSUES for SLC38A6 Gene

  • Intestine(4.1)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with SLC38A6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC38A6 Gene

Orthologs for SLC38A6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC38A6 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SLC38A6 34 33
  • 98.61 (n)
(Canis familiaris)
Mammalia SLC38A6 34 33
  • 91.74 (n)
(Bos Taurus)
Mammalia SLC38A6 34 33
  • 91.01 (n)
(Rattus norvegicus)
Mammalia Slc38a6 33
  • 85.53 (n)
(Mus musculus)
Mammalia Slc38a6 16 34 33
  • 83.99 (n)
(Ornithorhynchus anatinus)
Mammalia SLC38A6 34
  • 68 (a)
(Monodelphis domestica)
Mammalia SLC38A6 34
  • 67 (a)
(Gallus gallus)
Aves SLC38A6 34 33
  • 72.47 (n)
(Anolis carolinensis)
Reptilia SLC38A6 34
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia slc38a6 33
  • 70.94 (n)
Str.19095 33
(Danio rerio)
Actinopterygii slc38a6 34 33
  • 60.08 (n)
wufa94c12 33
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AVT2 34
  • 17 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
CSA.4031 34
  • 40 (a)
Species where no ortholog for SLC38A6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLC38A6 Gene

Gene Tree for SLC38A6 (if available)
Gene Tree for SLC38A6 (if available)
Evolutionary constrained regions (ECRs) for SLC38A6: view image

Paralogs for SLC38A6 Gene

Paralogs for SLC38A6 Gene

(15) SIMAP similar genes for SLC38A6 Gene using alignment to 12 proteins:

  • S38A6_HUMAN
  • E9PM79_HUMAN
  • G3V3H5_HUMAN
  • H0YE10_HUMAN
  • H0YF42_HUMAN
  • H0YJ85_HUMAN
genes like me logo Genes that share paralogs with SLC38A6: view

Variants for SLC38A6 Gene

Sequence variations from dbSNP and Humsavar for SLC38A6 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs755184077 pathogenic, Combined oxidative phosphorylation deficiency 26, not provided 60,979,583(+) TATTT/T upstream_transcript_variant
rs76079086 likely-benign, not provided 60,979,363(+) G/C/T upstream_transcript_variant
rs1000008085 -- 61,004,864(+) G/T genic_upstream_transcript_variant, intron_variant
rs1000010118 -- 61,040,618(+) T/C intron_variant
rs1000026648 -- 61,083,042(+) TTT/TT genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC38A6 Gene

Variant ID Type Subtype PubMed ID
nsv564881 CNV gain 21841781
nsv1116744 CNV tandem duplication 24896259
nsv1078207 CNV insertion 25765185
nsv1049936 CNV loss 25217958
nsv1037387 CNV gain 25217958
esv3634680 CNV gain 21293372
esv3634678 CNV loss 21293372
esv3382258 CNV insertion 20981092
esv3379289 CNV duplication 20981092
esv3305148 CNV mobile element insertion 20981092
esv2748755 CNV deletion 23290073
esv2656644 CNV deletion 23128226
dgv1281e59 CNV tandem duplication 20981092

Variation tolerance for SLC38A6 Gene

Residual Variation Intolerance Score: 79.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.94; 59.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC38A6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC38A6 Gene

Disorders for SLC38A6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC38A6 Gene - From: GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 26
  • coxpd26
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC38A6

genes like me logo Genes that share disorders with SLC38A6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC38A6 Gene

Publications for SLC38A6 Gene

  1. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  3. Histological analysis of SLC38A6 (SNAT6) expression in mouse brain shows selective expression in excitatory neurons with high expression in the synapses. (PMID: 24752331) Bagchi S … Fredriksson R (PloS one 2014) 3 58
  4. Evolutionary origin of amino acid transporter families SLC32, SLC36 and SLC38 and physiological, pathological and therapeutic aspects. (PMID: 23506890) Schiöth HB … Fredriksson R (Molecular aspects of medicine 2013) 3 58
  5. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4 58

Products for SLC38A6 Gene

Sources for SLC38A6 Gene

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