Aliases for SLC7A8 Gene

Aliases for SLC7A8 Gene

  • Solute Carrier Family 7 Member 8 2 3 4 5
  • Solute Carrier Family 7 (Amino Acid Transporter Light Chain, L System), Member 8 2 3
  • Large Neutral Amino Acids Transporter Small Subunit 2 3 4
  • 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 and Allan-Herndon-Dudley Syndrome. Among its related pathways are Cell surface interactions at the vascular wall and Basigin interactions. Gene Ontology (GO) annotations related to this gene include peptide antigen binding and antiporter activity. An important paralog of this gene is SLC7A10.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for SLC7A8 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC7A8 Gene

Genomics for SLC7A8 Gene

GeneHancer (GH) Regulatory Elements for SLC7A8 Gene

Promoters and enhancers for SLC7A8 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
GH14J023179 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +2.0 1999 5.4 SAP30 HDAC2 ZNF341 RBM25 POLR2A SP2 ZBTB17 ZNF263 MXI1 ZNF76 SLC7A8 HOMEZ MMP14 DAD1 CDH24 ZFHX2-AS1 RF00017-1509
GH14J023152 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.3 +29.3 29340 3.4 NRF1 NONO ZIC2 CLOCK ZNF263 FOXA1 TARDBP HES1 MYC CTBP1 piR-32214-168 SLC7A8 piR-43105-157
GH14J023185 Enhancer 0.7 ENCODE 500.7 -1.6 -1623 0.2 ZNF316 ARNT MAFF FOS MAFK PBX2 JUN FOSL1 JUND MAFG RNF212B lnc-C14orf119-1 SLC7A8
GH14J022927 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 30.9 +254.1 254067 3.2 EP300 RXRA FOXK2 ZBTB40 ZNF217 CTCF TCF12 SIN3A NRF1 MYC PRMT5 ENSG00000257285 LOC101926933 TRR-ACG1-3 lnc-RBM23-2 piR-41435-001 NGDN HAUS4 ACIN1 SLC7A8
GH14J023005 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 14.2 +175.3 175336 4.9 FOXK2 ZBTB40 ZNF217 EP300 CTCF ZSCAN5C TCF12 SIN3A MYC NRF1 C14orf93 ENSG00000280129 ACIN1 NGDN HAUS4 PRMT5 RBM23 LOC102724814 PABPN1 MMP14
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC7A8 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC7A8

Top Transcription factor binding sites by QIAGEN in the SLC7A8 gene promoter:
  • AML1a
  • FAC1
  • HSF2
  • Ik-2
  • MZF-1
  • PPAR-gamma1
  • PPAR-gamma2
  • Sox9

Genomic Locations for SLC7A8 Gene

Genomic Locations for SLC7A8 Gene
chr14:23,125,295-23,183,674
(GRCh38/hg38)
Size:
58,380 bases
Orientation:
Minus strand
chr14:23,594,504-23,652,883
(GRCh37/hg19)
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 asparagine, glutamine, methionine, leucine, isoleucine, valine, phenylalanine, tyrosine, tryptophan, histidine and cysteine) and by glutamine and asparagine. 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=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC7A8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC7A8 Gene

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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC7A8 Gene

Suggested Antigen Peptide Sequences for SLC7A8 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53351, highly similar to Large neutral amino acids transporter small subunit 2 (B4DKT4_HUMAN)
  • cDNA FLJ53656, highly similar to Large neutral amino acids transporter small subunit 2 (B4DTV6_HUMAN)
  • Solute carrier family 7 member 8 (LAT2_HUMAN)

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

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 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 Induction:
Activity in polarized intestinal cells is regulated by the association between SLC3A2/4F2 (in the SLC3A2/4F2-LAT2 heterodimer) and ICAM1.
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

Phenotypes From GWAS Catalog for SLC7A8 Gene

Gene Ontology (GO) - Molecular Function for SLC7A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12716892
GO:0015101 organic cation transmembrane transporter activity IDA 12117417
GO:0015171 amino acid transmembrane transporter activity ISS --
GO:0015175 neutral amino acid transmembrane transporter activity TAS,IBA 21873635
GO:0015179 L-amino acid transmembrane transporter activity IBA 21873635
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

Clone Products

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
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 SLC7A8 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC7A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 10391915
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC7A8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC7A8 Gene

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:0003333 amino acid transmembrane transport IBA 21873635
GO:0006865 amino acid transport TAS --
GO:0009636 response to toxic substance NAS 11311135
GO:0015695 organic cation transport IEA --
GO:0015804 neutral amino acid transport IBA,ISS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phenylalanine Approved, Investigational Nutra Target 237
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Transporter, substrate 0
Cysteine Approved Nutra 289
Levodopa Approved Pharma Agonist, Transporter 461
S-(Methylmercury)-L-Cysteine Experimental Pharma Transporter 0

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

Transcripts for SLC7A8 Gene

mRNA/cDNA for SLC7A8 Gene

4 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

Expression for SLC7A8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for SLC7A8 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC7A8

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.

Evidence on tissue expression from TISSUES for SLC7A8 Gene

  • Kidney(4.6)
  • Nervous system(4.6)
  • Skin(4.5)
genes like me logo Genes that share expression patterns with SLC7A8: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia SLC7A8 31 30
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC7A8 31 30
  • 93.67 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC7A8 31
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC7A8 31 30
  • 90.96 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc7a8 17 31 30
  • 89.92 (n)
rat
(Rattus norvegicus)
Mammalia Slc7a8 30
  • 89.27 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 75 (a)
OneToMany
-- 31
  • 65 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia SLC7A8 31
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc7a8 30
  • 74.67 (n)
MGC75862 30
zebrafish
(Danio rerio)
Actinopterygii SLC7A8B 31
  • 81 (a)
OneToMany
SLC7A8 (1 of 2) 31
  • 79 (a)
OneToMany
slc7a8a 30
  • 75.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta gb 31 30
  • 57.1 (n)
ManyToMany
mnd 31 32
  • 48 (a)
ManyToMany
JhI-21 31 32
  • 45 (a)
ManyToMany
CG6070 32
  • 44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003425 30
  • 54.64 (n)
worm
(Caenorhabditis elegans)
Secernentea F27C8.1 32
  • 47 (a)
F52H2.2 32
  • 44 (a)
aat-2 31
  • 43 (a)
OneToMany
F07C3.7 32
  • 42 (a)
Y53H1C.1 32
  • 34 (a)
T13A10.10 32
  • 31 (a)
C55C2.5a 32
  • 30 (a)
C55C2.5b 32
  • 30 (a)
T11F9.4 32
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 56 (a)
OneToMany
Cin.686 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.686 30
Species where no ortholog for SLC7A8 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC7A8: view image

Paralogs for SLC7A8 Gene

(14) SIMAP similar genes for SLC7A8 Gene using alignment to 6 proteins:

  • LAT2_HUMAN
  • E9PIC3_HUMAN
  • E9PLV9_HUMAN
  • E9PQT4_HUMAN
  • E9PS92_HUMAN
  • H0Y2X7_HUMAN
genes like me logo Genes that share paralogs with SLC7A8: view

Variants for SLC7A8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC7A8 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs752482499 Likely Pathogenic: Short stature 23,140,529(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
rs759951698 Likely Pathogenic: Short stature 23,139,485(-) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SLC7A8 Gene

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

Variant ID Type Subtype PubMed ID
esv3892475 CNV loss 25118596
nsv1215 CNV insertion 18451855
nsv564040 CNV loss 21841781

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)

Additional Variant Information for SLC7A8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC7A8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC7A8 Gene

Disorders for SLC7A8 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC7A8

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 SLC7A8: view

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

Publications for SLC7A8 Gene

  1. LAT2, a new basolateral 4F2hc/CD98-associated amino acid transporter of kidney and intestine. (PMID: 10574970) Rossier G … Kühn LC (The Journal of biological chemistry 1999) 3 4 23 26 54
  2. 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 … Palacín M (The Journal of biological chemistry 1999) 2 3 4 23 54
  3. Genetic polymorphisms in the amino acid transporters LAT1 and LAT2 in relation to the pharmacokinetics and side effects of melphalan. (PMID: 17558306) Kühne A … Brockmöller J (Pharmacogenetics and genomics 2007) 3 23 41 54
  4. Reabsorption of neutral amino acids mediated by amino acid transporter LAT2 and TAT1 in the basolateral membrane of proximal tubule. (PMID: 15918515) Park SY … Kim DK (Archives of pharmacal research 2005) 3 4 23 54
  5. Identification of stereoselective transporters for S-nitroso-L-cysteine: role of LAT1 and LAT2 in biological activity of S-nitrosothiols. (PMID: 15769744) Li S … Whorton AR (The Journal of biological chemistry 2005) 3 4 23 54

Products for SLC7A8 Gene

Sources for SLC7A8 Gene