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... See more...

Aliases for SLC38A8 Gene

Aliases for SLC38A8 Gene

  • Solute Carrier Family 38 Member 8 2 3 4 5
  • Putative Sodium-Coupled Neutral Amino Acid Transporter 8 3 4
  • Solute Carrier Family 38, Member 8 2
  • SLC38A8 5
  • 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 and Anterior Segment Dysgenesis. Gene Ontology (GO) annotations related to this gene include amino acid transmembrane transporter activity. An important paralog of this gene is SLC38A7.

UniProtKB/Swiss-Prot Summary for SLC38A8 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC38A8 Gene

Genomics for SLC38A8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC38A8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC38A8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC38A8

Top Transcription factor binding sites by QIAGEN in the SLC38A8 gene promoter:
  • AML1a
  • AP-4
  • E47
  • GATA-1
  • Hand1
  • HEN1
  • HNF-1
  • HNF-1A
  • Olf-1
  • Pax-5

Genomic Locations for SLC38A8 Gene

Genomic Locations for SLC38A8 Gene
chr16:84,009,667-84,043,372
(GRCh38/hg38)
Size:
33,706 bases
Orientation:
Minus strand
chr16:84,043,272-84,076,241
(GRCh37/hg19)
Size:
32,970 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

Post-translational modifications for SLC38A8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC38A8 Gene

No data available for DME Specific Peptides for SLC38A8 Gene

Domains & Families for SLC38A8 Gene

Gene Families for SLC38A8 Gene

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

Protein Domains for SLC38A8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC38A8 Gene

GenScript: Design optimal peptide antigens:
  • Putative sodium-coupled neutral amino acid transporter 8 (S38A8_HUMAN)

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 From GWAS Catalog for SLC38A8 Gene

Gene Ontology (GO) - Molecular Function for SLC38A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015171 amino acid transmembrane transporter activity IBA 21873635
genes like me logo Genes that share ontologies with SLC38A8: view
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC38A8

No data available for Enzyme Numbers (IUBMB) , 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
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 SLC38A8 gene
Compartment Confidence
plasma membrane 3
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SLC38A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC38A8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC38A8 Gene

Pathways & Interactions for SLC38A8 Gene

PathCards logo

SuperPathways for SLC38A8 Gene

No Data Available

Interacting Proteins for SLC38A8 Gene

Gene Ontology (GO) - Biological Process for SLC38A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003333 amino acid transmembrane transport IBA 21873635
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 SLC38A8: view

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
  • Na(+)
  • Na+
  • 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

1 REFSEQ mRNAs :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC38A8

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

No ASD Table

Relevant External Links for SLC38A8 Gene

GeneLoc Exon Structure for
SLC38A8

Expression for SLC38A8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for SLC38A8 Gene



Protein tissue co-expression partners for SLC38A8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC38A8

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.

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC38A8 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with SLC38A8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Evidence on tissue expression from TISSUES 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
Chimpanzee
(Pan troglodytes)
Mammalia SLC38A8 30 31
  • 99.08 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC38A8 30 31
  • 85.33 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC38A8 30 31
  • 84.52 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc38a8 30
  • 83.53 (n)
Mouse
(Mus musculus)
Mammalia Slc38a8 30 17 31
  • 83.29 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC38A8 31
  • 65 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC38A8 31
  • 62 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC38A8 30 31
  • 69.03 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC38A8 31
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc38a8 30
  • 62.1 (n)
Str.3369 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7747 30
Zebrafish
(Danio rerio)
Actinopterygii LOC795255 30
  • 62.76 (n)
CR352249.1 31
  • 55 (a)
OneToMany
SLC38A8 (1 of 2) 31
  • 53 (a)
OneToMany
Dr.18230 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3746 30
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AVT6 31
  • 17 (a)
ManyToMany
AVT7 31
  • 17 (a)
ManyToMany
AVT5 31
  • 16 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 30 (a)
ManyToMany
-- 31
  • 26 (a)
ManyToMany
Species where no ortholog for SLC38A8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC38A8: view image

Paralogs for SLC38A8 Gene

(1) SIMAP similar genes for SLC38A8 Gene using alignment to 3 proteins:

  • S38A8_HUMAN
  • H3BP02_HUMAN
  • H3BUP5_HUMAN
genes like me logo Genes that share paralogs with SLC38A8: view

Variants for SLC38A8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC38A8 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
691946 Pathogenic: Foveal hypoplasia; Foveal hypoplasia 2 84,033,366(-) CAG/C FRAMESHIFT_VARIANT
709614 Likely Benign: not provided 84,042,144(-) G/A MISSENSE_VARIANT
711181 Benign: not provided 84,016,568(-) G/A SYNONYMOUS_VARIANT
713605 Benign: not provided 84,033,348(-) G/T SYNONYMOUS_VARIANT
715883 Benign: not provided 84,016,607(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SLC38A8 Gene

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

Variant ID Type Subtype PubMed ID
dgv3056n100 CNV loss 25217958
dgv5259n54 CNV loss 21841781
dgv5261n54 CNV loss 21841781
dgv546e214 CNV gain 21293372
esv2657139 CNV deletion 23128226
esv27048 CNV loss 19812545
esv2761930 CNV gain 21179565
esv2763146 CNV loss 21179565
esv3639405 CNV loss 21293372
esv3639409 CNV loss 21293372
esv3892924 CNV gain 25118596
esv3892925 CNV loss 25118596
nsv1059227 CNV loss 25217958
nsv1065790 CNV loss 25217958
nsv1067050 CNV loss 25217958
nsv1109027 CNV deletion 24896259
nsv1909 CNV deletion 18451855
nsv457595 CNV gain 19166990
nsv471106 CNV gain 18288195
nsv517566 CNV gain+loss 19592680
nsv527489 CNV loss 19592680
nsv528396 CNV loss 19592680
nsv573421 CNV gain 21841781

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)

Additional Variant Information for SLC38A8 Gene

Human Gene Mutation Database (HGMD)
SLC38A8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC38A8

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

Disorders for SLC38A8 Gene

MalaCards: The human disease database

(13) MalaCards diseases for SLC38A8 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for SLC38A8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 OS (European journal of human genetics : EJHG 2014) 3 4
  2. Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. (PMID: 24290379) Poulter JA … Toomes C (American journal of human genetics 2013) 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. Association between liver-specific gene polymorphisms and their expression levels with nonalcoholic fatty liver disease. (PMID: 23213074) Adams LA … Pennell CE (Hepatology (Baltimore, Md.) 2013) 3
  5. Gene-environment interaction effects on lung function- a genome-wide association study within the Framingham heart study. (PMID: 24289273) Liao SY … Christiani DC (Environmental health : a global access science source 2013) 3

Products for SLC38A8 Gene

Sources for SLC38A8 Gene