Free for academic non-profit institutions. Other users need a Commercial license

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
  • Solute Carrier Family 38, Member 8 2
  • 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 Pathologic Nystagmus. 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 for SLC38A8 Gene

  • Putative sodium-dependent amino acid/proton antiporter.

Additional gene information for SLC38A8 Gene

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

Genomics for SLC38A8 Gene

GeneHancer (GH) Regulatory Elements for SLC38A8 Gene

Promoters and enhancers for SLC38A8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I084043 Enhancer 1.1 ENCODE dbSUPER 550.8 -0.6 -604 0.3 ATF1 ARNT ZNF48 TCF12 ZNF766 GATA2 NCOA1 MBD2 MEF2D SMARCA4 SLC38A8 ENSG00000274677
GH16I084044 Enhancer 0.9 ENCODE dbSUPER 550.8 -1.3 -1254 0.2 SOX13 CTCF ESRRA NFATC3 ARID4B RAD21 RARA SMC3 NR2F6 ZNF444 SLC38A8 TAF1C NECAB2 OSGIN1 ADAD2 HSDL1 DNAAF1 KCNG4 ENSG00000274677
GH16I084042 Promoter/Enhancer 0.7 EPDnew dbSUPER 550.8 +1.0 983 0.1 SLC38A8 RNA5SP432 GC16M084039
GH16I083952 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.4 +89.1 89081 3.2 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ZFP64 ARID4B NEUROD1 SIN3A OSGIN1 TAF1C KLHL36 ENSG00000261243 RNA5SP432 SLC38A8 MLYCD DNAAF1 HSDL1 NECAB2
GH16I083995 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 12.6 +47.2 47161 0.7 MXI1 USF1 RFX1 DDX20 NFYC SIN3A BMI1 RFX5 SP1 MYNN NECAB2 DNAAF1 RNA5SP432 SLC38A8 ENSG00000260300 KLHL36 HSDL1 ADAD2 PIR54401 GC16M084039
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC38A8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC38A8 gene promoter:

Genomic Locations for SLC38A8 Gene

Genomic Locations for SLC38A8 Gene
chr16:84,009,667-84,043,097
(GRCh38/hg38)
Size:
33,431 bases
Orientation:
Minus strand
chr16:84,043,272-84,076,241
(GRCh37/hg19)

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

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 --
genes like me logo Genes that share ontologies with SLC38A8: view

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

miRNA for SLC38A8 Gene

miRTarBase miRNAs that target SLC38A8

Clone Products

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

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

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 --
GO:0006810 transport IEA --
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
  • 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for SLC38A8 Gene



Protein tissue co-expression partners for SLC38A8 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC38A8 Gene:

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 33 34
  • 99.08 (n)
dog
(Canis familiaris)
Mammalia SLC38A8 33 34
  • 85.33 (n)
cow
(Bos Taurus)
Mammalia SLC38A8 33 34
  • 84.52 (n)
rat
(Rattus norvegicus)
Mammalia Slc38a8 33
  • 83.53 (n)
mouse
(Mus musculus)
Mammalia Slc38a8 33 16 34
  • 83.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC38A8 34
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC38A8 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC38A8 33 34
  • 69.03 (n)
lizard
(Anolis carolinensis)
Reptilia SLC38A8 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc38a8 33
  • 62.1 (n)
Str.3369 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7747 33
zebrafish
(Danio rerio)
Actinopterygii LOC795255 33
  • 62.76 (n)
CR352249.1 34
  • 55 (a)
OneToMany
SLC38A8 (1 of 2) 34
  • 53 (a)
OneToMany
Dr.18230 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3746 33
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AVT6 34
  • 17 (a)
ManyToMany
AVT7 34
  • 17 (a)
ManyToMany
AVT5 34
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
ManyToMany
-- 34
  • 26 (a)
ManyToMany
Species where no ortholog for SLC38A8 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1057516193 likely-pathogenic, Foveal hypoplasia 2 84,017,290(-) G/C intron_variant
rs149592537 pathogenic, Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis 84,031,901(-) G/A coding_sequence_variant, stop_gained
rs372929441 pathogenic, Foveal hypoplasia 2, Foveal hypoplasia 2 (FVH2) [MIM:609218] 84,022,883(-) C/A/T coding_sequence_variant, missense_variant, stop_gained
rs587777253 pathogenic, Foveal hypoplasia 2, Foveal hypoplasia 2 (FVH2) [MIM:609218] 84,042,063(-) A/C coding_sequence_variant, missense_variant
rs587777254 pathogenic, FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS, Foveal hypoplasia 2 (FVH2) [MIM:609218] 84,022,873(-) A/T coding_sequence_variant, missense_variant

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

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

Disorder Aliases PubMed IDs
foveal hypoplasia 2
  • fvh2
pathologic nystagmus
  • nystagmus
congenital nystagmus
  • nystagmus congenital
aniridia 1
  • an1
achromatopsia
  • achm
- 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
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 58
  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 58
  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 44 58
  4. 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 58
  5. 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 58

Products for SLC38A8 Gene

Sources for SLC38A8 Gene

Content
Loading form....