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Aliases for SLC38A8 Gene

Aliases for SLC38A8 Gene

  • Solute Carrier Family 38 Member 8 2 3 4 5
  • Solute Carrier Family 38, Member 8 2 3
  • FVH2 3

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. GO annotations related to this gene include amino acid transmembrane transporter activity. 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

Enhancers for SLC38A8 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 SLC38A8 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC38A8 Gene

Chromosome:
16
Start:
84,009,667 bp from pter
End:
84,043,097 bp from pter
Size:
33,431 bases
Orientation:
Minus strand

Genomic View for SLC38A8 Gene

Genes around SLC38A8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC38A8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    A6NNN8-S38A8_HUMAN
    Recommended name:
    Putative sodium-coupled neutral amino acid transporter 8
    Protein Accession:
    A6NNN8

    Protein attributes for SLC38A8 Gene

    Size:
    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 & Families for SLC38A8 Gene

Gene Families for SLC38A8 Gene

Protein Domains for SLC38A8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC38A8 Gene

Graphical View of Domain Structure for InterPro Entry

A6NNN8

UniProtKB/Swiss-Prot:

S38A8_HUMAN :
  • Belongs to the amino acid/polyamine transporter 2 family.
Family:
  • 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.

Phenotypes for SLC38A8 Gene

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

Human Phenotype Ontology for SLC38A8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC38A8

CRISPR Products

miRNA for SLC38A8 Gene

miRTarBase miRNAs that target SLC38A8

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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

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

No data available for Gene Ontology (GO) - Cellular Components for SLC38A8 Gene

Pathways & Interactions 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)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000299709%0d%0a9606.ENSP00000243389%0d%0a9606.ENSP00000317382%0d%0a9606.ENSP00000334223%0d%0a9606.ENSP00000366942%0d%0a
Selected Interacting proteins: ENSP00000299709 for SLC38A8 Gene via STRING

Gene Ontology (GO) - Biological Process for SLC38A8 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SLC38A8 Gene

Drugs & Compounds for SLC38A8 Gene

(1) Additional Compounds for SLC38A8 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 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:

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

No ASD Table

Relevant External Links for SLC38A8 Gene

GeneLoc Exon Structure for
SLC38A8
ECgene alternative splicing isoforms for
SLC38A8

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 (x10.8), Heart - Left Ventricle (x6.4), Brain - Cortex (x4.2), and Brain - Frontal Cortex (BA9) (x4.1).

Protein differential expression in normal tissues from HIPED for SLC38A8 Gene

This gene is overexpressed in NK cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

A6NNN8-S38A8_HUMAN
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 expression patterns with SLC38A8: view

Protein tissue co-expression partners for SLC38A8 Gene

Primer Products

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
cow
(Bos Taurus)
Mammalia SLC38A8 35
  • 84.52 (n)
  • 82.76 (a)
SLC38A8 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC38A8 35
  • 85.33 (n)
  • 83.87 (a)
SLC38A8 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc38a8 35
  • 83.29 (n)
  • 82.6 (a)
Slc38a8 16
Slc38a8 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC38A8 35
  • 99.08 (n)
  • 98.85 (a)
SLC38A8 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc38a8 35
  • 83.53 (n)
  • 82.13 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC38A8 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC38A8 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC38A8 35
  • 69.03 (n)
  • 65.04 (a)
SLC38A8 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC38A8 36
  • 57 (a)
OneToOne
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
zebrafish
(Danio rerio)
Actinopterygii Dr.18230 35
LOC795255 35
  • 62.76 (n)
  • 59.09 (a)
CR352249.1 36
  • 55 (a)
OneToMany
SLC38A8 (1 of 2) 36
  • 53 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3746 35
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AVT5 36
  • 16 (a)
ManyToMany
AVT6 36
  • 17 (a)
ManyToMany
AVT7 36
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 26 (a)
ManyToMany
-- 36
  • 30 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for SLC38A8 (if available)
TreeFam:
Gene Tree for SLC38A8 (if available)

Paralogs for SLC38A8 Gene

Paralogs for SLC38A8 Gene

(1) 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
rs11862366 - 84,029,525(+) AGACA(C/G/T)TGAAC reference, missense
VAR_071252 Foveal hypoplasia 2 (FVH2)
VAR_071253 Foveal hypoplasia 2 (FVH2)
VAR_071254 Foveal hypoplasia 2 (FVH2)
VAR_071255 Foveal hypoplasia 2 (FVH2)

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

Variation tolerance for SLC38A8 Gene

Residual Variation Intolerance Score: 92.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.02; 74.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC38A8 Gene

HapMap Linkage Disequilibrium report
SLC38A8
Human Gene Mutation Database (HGMD)
SLC38A8

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

Disorders for SLC38A8 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SLC38A8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and DISEASES

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S38A8_HUMAN
  • 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)
SLC38A8
Human Genome Epidemiology (HuGE) Navigator
SLC38A8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC38A8
genes like me logo Genes that share disorders with SLC38A8: view

No data available for Genatlas for SLC38A8 Gene

Publications for SLC38A8 Gene

  1. 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 67
  2. Gene-environment interaction effects on lung function- a genome-wide association study within the Framingham heart study. (PMID: 24289273) Liao S.Y. … Christiani D.C. (Environ Health 2013) 3
  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. Association between liver-specific gene polymorphisms and their expression levels with nonalcoholic fatty liver disease. (PMID: 23213074) Adams L.A. … Pennell C.E. (Hepatology 2013) 3
  5. 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

Products for SLC38A8 Gene

Sources for SLC38A8 Gene

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