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Aliases for SLC7A8 Gene

Aliases for SLC7A8 Gene

  • Solute Carrier Family 7 Member 8 2 3 4
  • Solute Carrier Family 7 (Amino Acid Transporter Light Chain, L System), Member 8 2 3 5
  • L-Type Amino Acid Transporter 2 3 4
  • LAT2 3 4
  • Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 8 3
  • Solute Carrier Family 7 (Amino Acid Transporter, L-Type), Member 8 3
  • Integral Membrane Protein E16H 3
  • LPI-PC1 3
  • HLAT2 4

External Ids for SLC7A8 Gene

Previous GeneCards Identifiers for SLC7A8 Gene

  • GC14M020966
  • GC14M017381
  • GC14M021584
  • GC14M022664
  • GC14M023594
  • GC14M003711

Summaries for SLC7A8 Gene

GeneCards Summary for SLC7A8 Gene

SLC7A8 (Solute Carrier Family 7 Member 8) is a Protein Coding gene. Diseases associated with SLC7A8 include Lysinuric Protein Intolerance. Among its related pathways are Platelet activation, signaling and aggregation and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include peptide antigen binding and antiporter activity. An important paralog of this gene is SLC7A10.

UniProtKB/Swiss-Prot for SLC7A8 Gene

  • Sodium-independent, high-affinity transport of small and large neutral amino acids such as alanine, serine, threonine, cysteine, phenylalanine, tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc. Acts as an amino acid exchanger. Has higher affinity for L-phenylalanine than LAT1 but lower affinity for glutamine and serine. L-alanine is transported at physiological concentrations. Plays a role in basolateral (re)absorption of neutral amino acids. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. Plays an essential role in the reabsorption of neutral amino acids from the epithelial cells to the bloodstream in the kidney.

Gene Wiki entry for SLC7A8 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC7A8 Gene

Genomics for SLC7A8 Gene

Regulatory Elements for SLC7A8 Gene

Enhancers for SLC7A8 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 SLC7A8 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC7A8 Gene

Chromosome:
14
Start:
23,125,295 bp from pter
End:
23,183,674 bp from pter
Size:
58,380 bases
Orientation:
Minus strand

Genomic View for SLC7A8 Gene

Genes around SLC7A8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC7A8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC7A8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC7A8 Gene

Proteins for SLC7A8 Gene

  • Protein details for SLC7A8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHI5-LAT2_HUMAN
    Recommended name:
    Large neutral amino acids transporter small subunit 2
    Protein Accession:
    Q9UHI5
    Secondary Accessions:
    • B2R8Q4
    • B4DKT4
    • B4DTV6
    • D3DS46
    • F2Z2J4
    • Q86U05
    • Q9UKQ6
    • Q9UKQ7
    • Q9UKQ8
    • Q9Y445

    Protein attributes for SLC7A8 Gene

    Size:
    535 amino acids
    Molecular mass:
    58382 Da
    Quaternary structure:
    • Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc.
    Miscellaneous:
    • L-leucine transport activity inhibited by small zwitterionic amino acids (i.e. glycine, alanine, serine, threonine asparginine, glutamine, methionine, leucine, isoleucine, valine, phenylalanine, tyrosine, tryptophan, histidine and cysteine) and by glutamine and asparginine. Methionine uptake was inhibited by the L-system substrates L-leucine, 2-amino-bicyclo-(2,2,1)-heptane-2-carboxylate (BCH), L-cysteine and by the MeHg-L-cysteine complex and structurally related S-ethyl-L-cysteine. MeHg-L-cysteine uptake is inhibited by L-methionine, L-leucine, BCH and S-ethyl-L-cysteine. L-leucine uptake was inhibited by L-CNSO.
    SequenceCaution:
    • Sequence=CAD62616.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC7A8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC7A8 Gene

Proteomics data for SLC7A8 Gene at MOPED

Post-translational modifications for SLC7A8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SLC7A8 Gene

Domains & Families for SLC7A8 Gene

Gene Families for SLC7A8 Gene

Protein Domains for SLC7A8 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UHI5

UniProtKB/Swiss-Prot:

LAT2_HUMAN :
  • Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family.
Family:
  • Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family.
genes like me logo Genes that share domains with SLC7A8: view

Function for SLC7A8 Gene

Molecular function for SLC7A8 Gene

GENATLAS Biochemistry:
solute carrier family 7 member 8,cation aminoacid transport,highly expressed in skeletal muscle,intestine,kidney,placenta and in retinal pigmented epithelium,heterodimerizing with the cell surface glycoprotein 4F2hc/CD98 at the basolateral membrane to form a complex mediating y+L-type transporter exchanging cationic aminoacids and/or neutral aminoacids together with sodium,glycoprotein associated aminoacid transporter family,not mutated in lysinuric protein intolerance
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=221 uM for L-leucine {ECO:0000269 PubMed:10391915, ECO:0000269 PubMed:12117417, ECO:0000269 PubMed:15081149, ECO:0000269 PubMed:15918515}; KM=64 uM for MeHg-L-cysteine {ECO:0000269 PubMed:10391915, ECO:0000269 PubMed:12117417, ECO:0000269 PubMed:15081149, ECO:0000269 PubMed:15918515}; KM=161 uM for methionine {ECO:0000269 PubMed:10391915, ECO:0000269 PubMed:12117417, ECO:0000269 PubMed:15081149, ECO:0000269 PubMed:15918515}; KM=978 uM for L-alanine {ECO:0000269 PubMed:10391915, ECO:0000269 PubMed:12117417, ECO:0000269 PubMed:15081149, ECO:0000269 PubMed:15918515}; KM=89.35 uM for L-phenylalanine {ECO:0000269 PubMed:10391915, ECO:0000269 PubMed:12117417, ECO:0000269 PubMed:15081149, ECO:0000269 PubMed:15918515}; KM=57.3 uM for L-tryptophan {ECO:0000269 PubMed:10391915, ECO:0000269 PubMed:12117417, ECO:0000269 PubMed:15081149, ECO:0000269 PubMed:15918515}; KM=48.8 uM for L-tyrosine {ECO:0000269 PubMed:10391915, ECO:0000269 PubMed:12117417, ECO:0000269 PubMed:15081149, ECO:0000269 PubMed:15918515};
UniProtKB/Swiss-Prot Function:
Sodium-independent, high-affinity transport of small and large neutral amino acids such as alanine, serine, threonine, cysteine, phenylalanine, tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc. Acts as an amino acid exchanger. Has higher affinity for L-phenylalanine than LAT1 but lower affinity for glutamine and serine. L-alanine is transported at physiological concentrations. Plays a role in basolateral (re)absorption of neutral amino acids. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. Plays an essential role in the reabsorption of neutral amino acids from the epithelial cells to the bloodstream in the kidney.
UniProtKB/Swiss-Prot Induction:
Activity in polarized intestinal cells is regulated by the association between SLC3A2/4F2 (in the SLC3A2/4F2-LAT2 heterodimer) and ICAM1.

Gene Ontology (GO) - Molecular Function for SLC7A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015101 organic cation transmembrane transporter activity IDA 12117417
GO:0019534 toxin transporter activity IDA 12117417
genes like me logo Genes that share ontologies with SLC7A8: view
genes like me logo Genes that share phenotypes with SLC7A8: view

Animal Models for SLC7A8 Gene

MGI Knock Outs for SLC7A8:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC7A8

CRISPR Products

miRNA for SLC7A8 Gene

miRTarBase miRNAs that target SLC7A8

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC7A8 Gene

Localization for SLC7A8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC7A8 Gene

Cytoplasm. Basolateral cell membrane; Multi-pass membrane protein. Note=Localized to the cytoplasm when expressed alone but when coexpressed with SLC3A2/4F2hc, is localized to the plasma membrane. Colocalized with SLC3A2/4F2hc at the basolateral membrane of kidney cortex proximal tubules and small intestine epithelia of the villi.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC7A8 Gene COMPARTMENTS Subcellular localization image for SLC7A8 gene
Compartment Confidence
extracellular 5
plasma membrane 5
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SLC7A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SLC7A8: view

Pathways & Interactions for SLC7A8 Gene

genes like me logo Genes that share pathways with SLC7A8: view

Gene Ontology (GO) - Biological Process for SLC7A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006520 cellular amino acid metabolic process TAS 10391915
GO:0006810 transport TAS 10391915
GO:0006811 ion transport TAS --
GO:0015807 L-amino acid transport IEA --
GO:0050900 leukocyte migration TAS --
genes like me logo Genes that share ontologies with SLC7A8: view

No data available for SIGNOR curated interactions for SLC7A8 Gene

Drugs & Compounds for SLC7A8 Gene

(13) Drugs for SLC7A8 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Alanine Approved Nutra Full agonist, Agonist, Target Glycine receptor agonist 0
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Transporter, substrate 0
L-Phenylalanine Approved Nutra Target 0
Levodopa Approved Pharma Agonist, Transporter 374
L-Cysteine Approved Nutra 0

(4) Additional Compounds for SLC7A8 Gene - From: Novoseek and 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 SLC7A8: view

Transcripts for SLC7A8 Gene

Unigene Clusters for SLC7A8 Gene

Solute carrier family 7 (amino acid transporter light chain, L system), member 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC7A8 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b ^ 14a · 14b
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - - - - - - - - -
SP4: -
SP5:
SP6: - - -
SP7: -
SP8: -
SP9: - -

Relevant External Links for SLC7A8 Gene

GeneLoc Exon Structure for
SLC7A8
ECgene alternative splicing isoforms for
SLC7A8

Expression for SLC7A8 Gene

mRNA expression in normal human tissues for SLC7A8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC7A8 Gene

This gene is overexpressed in Retina (26.6) and Frontal cortex (21.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC7A8 Gene



SOURCE GeneReport for Unigene cluster for SLC7A8 Gene Hs.596643

mRNA Expression by UniProt/SwissProt for SLC7A8 Gene

Q9UHI5-LAT2_HUMAN
Tissue specificity: Strongest expression is observed in kidney and moderate expression in placenta and brain, followed by liver, prostate, testis, ovary, lymph node, thymus, spleen, skeletal muscle and heart. Also expressed in fetal liver as well as in the retinal pigment epithelial cell line ARPE-19 and the intestinal epithelial cell line Caco-2.
genes like me logo Genes that share expression patterns with SLC7A8: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for SLC7A8 Gene

Orthologs for SLC7A8 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC7A8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC7A8 35
  • 90.96 (n)
  • 90.89 (a)
SLC7A8 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC7A8 35
  • 93.67 (n)
  • 93.98 (a)
SLC7A8 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc7a8 35
  • 89.92 (n)
  • 93.38 (a)
Slc7a8 16
Slc7a8 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC7A8 35
  • 99.56 (n)
  • 100 (a)
SLC7A8 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc7a8 35
  • 89.27 (n)
  • 93.41 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 65 (a)
OneToMany
-- 36
  • 75 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SLC7A8 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC7A8 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75862 35
slc7a8 35
  • 74.67 (n)
  • 86.67 (a)
zebrafish
(Danio rerio)
Actinopterygii slc7a8a 35
  • 75.59 (n)
  • 84.77 (a)
SLC7A8 (1 of 2) 36
  • 79 (a)
OneToMany
SLC7A8B 36
  • 81 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG6070 37
  • 44 (a)
JhI-21 37
  • 49 (a)
mnd 37
  • 50 (a)
gb 35
  • 57.1 (n)
  • 46.62 (a)
gb 36
  • 41 (a)
ManyToMany
JhI-21 36
  • 45 (a)
ManyToMany
mnd 36
  • 48 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003425 35
  • 54.64 (n)
  • 45.49 (a)
worm
(Caenorhabditis elegans)
Secernentea C55C2.5a 37
  • 30 (a)
C55C2.5b 37
  • 30 (a)
F07C3.7 37
  • 42 (a)
F27C8.1 37
  • 47 (a)
F52H2.2 37
  • 44 (a)
T11F9.4 37
  • 29 (a)
T13A10.10 37
  • 31 (a)
Y53H1C.1 37
  • 34 (a)
aat-2 36
  • 43 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.686 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 56 (a)
OneToMany
Species with no ortholog for SLC7A8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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)
  • 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)

Evolution for SLC7A8 Gene

ENSEMBL:
Gene Tree for SLC7A8 (if available)
TreeFam:
Gene Tree for SLC7A8 (if available)

Paralogs for SLC7A8 Gene

Paralogs for SLC7A8 Gene

genes like me logo Genes that share paralogs with SLC7A8: view

Variants for SLC7A8 Gene

Sequence variations from dbSNP and Humsavar for SLC7A8 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs7140404 -- 23,144,342(+) CACAA(A/T)TTTTT intron-variant
rs7141211 -- 23,175,416(+) gttgg(C/T)caggc intron-variant
rs7142162 -- 23,162,715(+) TGGTC(C/T)GAGGG intron-variant
rs1569951 -- 23,138,062(-) GTGGT(A/G)ACCTC intron-variant
rs7143368 -- 23,162,995(+) GCAGT(A/G)GCTAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC7A8 Gene

Variant ID Type Subtype PubMed ID
nsv901492 CNV Loss 21882294
nsv1215 CNV Insertion 18451855

Variation tolerance for SLC7A8 Gene

Residual Variation Intolerance Score: 44.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.98; 49.60% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for SLC7A8 Gene

Disorders for SLC7A8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC7A8 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
lysinuric protein intolerance
  • dibasic amino aciduria ii
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC7A8

Genetic Association Database (GAD)
SLC7A8
Human Genome Epidemiology (HuGE) Navigator
SLC7A8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC7A8
genes like me logo Genes that share disorders with SLC7A8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC7A8 Gene

Publications for SLC7A8 Gene

  1. Identification of a membrane protein, LAT-2, that co-expresses with 4F2 heavy chain, an L-type amino acid transport activity with broad specificity for small and large zwitterionic amino acids. (PMID: 10391915) Pineda M. … Palacin M. (J. Biol. Chem. 1999) 2 3 4 23 67
  2. LAT2, a new basolateral 4F2hc/CD98-associated amino acid transporter of kidney and intestine. (PMID: 10574970) Rossier G. … Kuehn L.C. (J. Biol. Chem. 1999) 3 23 25 26
  3. Identification of a novel system L amino acid transporter structurally distinct from heterodimeric amino acid transporters. (PMID: 12930836) Babu E. … Endou H. (J. Biol. Chem. 2003) 23 25 26
  4. Genetic polymorphisms in the amino acid transporters LAT1 and LAT2 in relation to the pharmacokinetics and side effects of melphalan. (PMID: 17558306) KA1hne A. … BrockmAPller J. (Pharmacogenet. Genomics 2007) 3 23
  5. Recycling of aromatic amino acids via TAT1 allows efflux of neutral amino acids via LAT2-4F2hc exchanger. (PMID: 17273864) Ramadan T. … Verrey F. (Pflugers Arch. 2007) 25 26

Products for SLC7A8 Gene

Sources for SLC7A8 Gene

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