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Aliases for SLC38A8 Gene

Aliases for SLC38A8 Gene

  • Solute Carrier Family 38, Member 8 2 3
  • FVH2 3 6
  • Putative Sodium-Coupled Neutral Amino Acid Transporter 8 3
  • Solute Carrier Family 38 Member 8 4

External Ids for SLC38A8 Gene

Previous GeneCards Identifiers for SLC38A8 Gene

  • GC16M082601
  • GC16M084043
  • GC16M069797

Summaries for SLC38A8 Gene

Entrez Gene Summary for SLC38A8 Gene

  • This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014]

GeneCards Summary for SLC38A8 Gene

SLC38A8 (Solute Carrier Family 38, Member 8) is a Protein Coding gene. Diseases associated with SLC38A8 include foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis and foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome. An important paralog of this gene is SLC38A7.

UniProtKB/Swiss-Prot for SLC38A8 Gene

  • Putative sodium-dependent amino acid/proton antiporter.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC38A8 Gene

Genomics for SLC38A8 Gene

Regulatory Elements for SLC38A8 Gene

Genomic Location for SLC38A8 Gene

84,009,667 bp from pter
84,043,037 bp from pter
33,371 bases
Minus strand

Genomic View for SLC38A8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC38A8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC38A8 Gene

Proteins for SLC38A8 Gene

  • Protein details for SLC38A8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Putative sodium-coupled neutral amino acid transporter 8
    Protein Accession:
    Secondary Accessions:

    Protein attributes for SLC38A8 Gene

    435 amino acids
    Molecular mass:
    46731 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC38A8 Gene

Proteomics data for SLC38A8 Gene at MOPED

Post-translational modifications for SLC38A8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC38A8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC38A8 Gene

Domains for SLC38A8 Gene

Gene Families for SLC38A8 Gene

  • SLC :Solute carriers

Protein Domains for SLC38A8 Gene


Suggested Antigen Peptide Sequences for SLC38A8 Gene

Graphical View of Domain Structure for InterPro Entry



  • A6NNN8
  • Belongs to the amino acid/polyamine transporter 2 family.
genes like me logo Genes that share domains with SLC38A8: view

Function for SLC38A8 Gene

Molecular function for SLC38A8 Gene

UniProtKB/Swiss-Prot Function:
Putative sodium-dependent amino acid/proton antiporter.

Gene Ontology (GO) - Molecular Function for SLC38A8 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 SLC38A8: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SLC38A8 Gene

Localization for SLC38A8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC38A8 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for SLC38A8 Gene COMPARTMENTS Subcellular localization image for SLC38A8 gene
Compartment Confidence
plasma membrane 3

Gene Ontology (GO) - Cellular Components for SLC38A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC38A8: view

Pathways for SLC38A8 Gene

SuperPathways for SLC38A8 Gene

No Data Available

Interacting Proteins for SLC38A8 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
Selected Interacting proteins: ENSP00000299709 for SLC38A8 Gene via STRING

Gene Ontology (GO) - Biological Process for SLC38A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003333 amino acid transmembrane transport IBA --
GO:0006814 sodium ion transport IEA --
GO:0006865 amino acid transport --
genes like me logo Genes that share ontologies with SLC38A8: view

No data available for Pathways by source for SLC38A8 Gene

Compounds for SLC38A8 Gene

(1) HMDB Compounds for SLC38A8 Gene

Compound Synonyms Cas Number PubMed IDs
  • Sodium
genes like me logo Genes that share compounds with SLC38A8: view

Transcripts for SLC38A8 Gene

mRNA/cDNA for SLC38A8 Gene

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

Unigene Clusters for SLC38A8 Gene

Solute carrier family 38, member 8:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC38A8

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC38A8 Gene

No ASD Table

Relevant External Links for SLC38A8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SLC38A8 Gene

mRNA expression in normal human tissues for SLC38A8 Gene

mRNA differential expression in normal tissues according to GTEx for SLC38A8 Gene

This gene is overexpressed in Brain - Amygdala (10.8), Heart - Left Ventricle (6.4), Brain - Cortex (4.2), and Brain - Frontal Cortex (BA9) (4.1).

Protein differential expression in normal tissues for SLC38A8 Gene

This gene is overexpressed in NK cells (69.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SLC38A8 Gene

SOURCE GeneReport for Unigene cluster for SLC38A8 Gene Hs.461575

mRNA Expression by UniProt/SwissProt for SLC38A8 Gene

Tissue specificity: Expressed in fetal and adult brain, and spinal cord. In the brain, it is localized in the cell body and axon of the majority of neuronal cells and in a subset of glial cells. Found throughout the neuronal retina, with higher expression levels in the inner and outer plexiform layers and the photoreceptor layer. Very weak expression is also present in the kidneys, thymus, and testes.
genes like me logo Genes that share expressions with SLC38A8: view

Expression partners for SLC38A8 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SLC38A8 Gene

Orthologs for SLC38A8 Gene

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

Orthologs for SLC38A8 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SLC38A8 35
  • 84.52 (n)
  • 82.76 (a)
SLC38A8 36
  • 83 (a)
(Canis familiaris)
Mammalia SLC38A8 35
  • 85.33 (n)
  • 83.87 (a)
SLC38A8 36
  • 84 (a)
(Mus musculus)
Mammalia Slc38a8 35
  • 83.29 (n)
  • 82.6 (a)
Slc38a8 16
Slc38a8 36
  • 82 (a)
(Pan troglodytes)
Mammalia SLC38A8 35
  • 99.08 (n)
  • 98.85 (a)
SLC38A8 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Slc38a8 35
  • 83.53 (n)
  • 82.13 (a)
(Monodelphis domestica)
Mammalia SLC38A8 36
  • 62 (a)
(Ornithorhynchus anatinus)
Mammalia SLC38A8 36
  • 65 (a)
(Gallus gallus)
Aves SLC38A8 35
  • 69.03 (n)
  • 65.04 (a)
SLC38A8 36
  • 56 (a)
(Anolis carolinensis)
Reptilia SLC38A8 36
  • 57 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia slc38a8 35
  • 62.1 (n)
  • 58.24 (a)
Str.3369 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.7747 35
(Danio rerio)
Actinopterygii Dr.18230 35
LOC795255 35
  • 62.76 (n)
  • 59.09 (a)
CR352249.1 36
  • 55 (a)
SLC38A8 (1 of 2) 36
  • 53 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3746 35
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AVT5 36
  • 16 (a)
AVT6 36
  • 17 (a)
AVT7 36
  • 17 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 26 (a)
-- 36
  • 30 (a)
Species with no ortholog for SLC38A8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 SLC38A8 Gene

Gene Tree for SLC38A8 (if available)
Gene Tree for SLC38A8 (if available)

Paralogs for SLC38A8 Gene

Paralogs for SLC38A8 Gene

Selected SIMAP similar genes for SLC38A8 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SLC38A8: view

Variants for SLC38A8 Gene

Sequence variations from dbSNP and Humsavar for SLC38A8 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs872942 -- 84,031,602(+) CAATA(A/T)CCTAT intron-variant
rs882986 -- 84,030,939(+) ACCAG(C/G)TCTGG intron-variant
rs907042 -- 84,031,470(+) ATCCC(C/G/T)GCCCA intron-variant
rs907043 -- 84,032,105(+) TCACC(A/G)TCCTC intron-variant
rs907044 -- 84,032,115(+) CATCT(A/G)TACAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC38A8 Gene

Variant ID Type Subtype PubMed ID
nsv517566 CNV Gain+Loss 19592680
nsv471106 CNV Gain 18288195
dgv2928n71 CNV Loss 21882294
nsv528396 CNV Loss 19592680
nsv907040 CNV Loss 21882294
dgv2929n71 CNV Gain 21882294
dgv2930n71 CNV Gain 21882294
nsv457595 CNV Gain 19166990
nsv907049 CNV Gain 21882294
esv2657139 CNV Deletion 23128226
dgv2931n71 CNV Loss 21882294
nsv527489 CNV Loss 19592680
nsv1909 CNV Loss 18451855
esv27048 CNV Loss 19812545
dgv2932n71 CNV Gain 21882294

Relevant External Links for SLC38A8 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC38A8 Gene

Disorders for SLC38A8 Gene

(1) OMIM Diseases for SLC38A8 Gene (615585)


  • Foveal hypoplasia 2 (FVH2) [MIM:609218]: An isolated form of foveal hypoplasia, a developmental defect of the eye defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Clinical features include absence of foveal pit on optical coherence tomography, absence of foveal hyperpigmentation, absence of foveal avascularity, absence of foveal and macular reflexes, decreased visual acuity, and nystagmus. Optic nerve misrouting and anterior segment dysgenesis are observed in some FVH2 patients. {ECO:0000269 PubMed:24045842, ECO:0000269 PubMed:24290379}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC38A8

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with SLC38A8: view

No data available for University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for SLC38A8 Gene

Publications for SLC38A8 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  2. Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation. (PMID: 24045842) Perez Y. … Birk O.S. (Eur. J. Hum. Genet. 2014) 3 4
  3. Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. (PMID: 24290379) Poulter J.A. … Toomes C. (Am. J. Hum. Genet. 2013) 3 4
  4. The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J. … Pennacchio L.A. (Nature 2004) 4
  5. The sequence of the human genome. (PMID: 11181995) Venter J.C. … Zhu X. (Science 2001) 3

Products for SLC38A8 Gene

Sources for SLC38A8 Gene

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