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Aliases for SLC7A6 Gene

Aliases for SLC7A6 Gene

  • Solute Carrier Family 7 Member 6 2 3 4 5
  • Solute Carrier Family 7 (Amino Acid Transporter Light Chain, Y+L System), Member 6 2 3
  • Cationic Amino Acid Transporter, Y+ System 3 4
  • Y(+)L-Type Amino Acid Transporter 2 3 4
  • Y+LAT-2 3 4
  • Y+LAT2 3 4
  • Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 6 3
  • Y+L Amino Acid Transporter 2 3
  • Amino Acid Permease 3
  • KIAA0245 4
  • LAT-2 3
  • LAT3 3

External Ids for SLC7A6 Gene

Previous GeneCards Identifiers for SLC7A6 Gene

  • GC16P058995
  • GC16P068678
  • GC16P068033
  • GC16P068076
  • GC16P068074
  • GC16P066855
  • GC16U900049
  • GC16P054171

Summaries for SLC7A6 Gene

GeneCards Summary for SLC7A6 Gene

SLC7A6 (Solute Carrier Family 7 Member 6) is a Protein Coding gene. Diseases associated with SLC7A6 include Lysinuric Protein Intolerance. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Amino acid transport across the plasma membrane. GO annotations related to this gene include amino acid transmembrane transporter activity and L-amino acid transmembrane transporter activity. An important paralog of this gene is SLC7A7.

UniProtKB/Swiss-Prot for SLC7A6 Gene

  • Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Also acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L-arginine in monocytes. Reduces uptake of ornithine in retinal pigment epithelial (RPE) cells.

Gene Wiki entry for SLC7A6 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC7A6 Gene

Genomics for SLC7A6 Gene

Regulatory Elements for SLC7A6 Gene

Enhancers for SLC7A6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G068279 2 FANTOM5 Ensembl ENCODE dbSUPER 34.4 +22.6 22631 13.5 HDGF PKNOX1 FOXA2 MLX WRNIP1 ARID4B DMAP1 SLC30A9 ZNF766 FOS PRMT7 SLC7A6 NFATC3 SLC7A6OS RNU4-30P DUS2 RANBP10 DPEP2 PSMB10 LRRC36
GH16G068267 2 FANTOM5 Ensembl ENCODE dbSUPER 34.2 +8.7 8742 10.7 CREB3L1 MLX AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 SP3 SLC7A6 PRMT7 CENPT CHTF8 RANBP10 SLC7A6OS ENSG00000270165 ZDHHC1 ENSG00000263276 DPEP2
GH16G068326 1.5 Ensembl ENCODE dbSUPER 27.2 +64.9 64926 3.7 FOXA2 AGO1 ARID4B SIN3A FEZF1 BRCA1 ZNF48 GLIS2 ZNF143 ZNF263 PRMT7 SLC7A6 DUS2 DPEP2 RNU4-30P ENSG00000259797
GH16G068331 1.4 Ensembl ENCODE dbSUPER 26.4 +69.2 69183 3.5 ELF3 TBP ARID4B DMAP1 ZNF2 ZSCAN9 RAD21 GATA2 SCRT2 RCOR1 SLC7A6 PRMT7 DPEP2 RNU4-30P ENSG00000279693
GH16G068355 1.3 Ensembl ENCODE dbSUPER 25.9 +92.7 92743 1.5 CTCF USF1 TBL1XR1 MAX RELA POLR2A EGR1 EED ZNF143 ETV6 PRMT7 SLC7A6 RNU6-1262P SLC7A6OS ENSG00000212445 DUS2 ENSG00000279693 RNU4-30P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC7A6 on UCSC Golden Path with GeneCards custom track

Promoters for SLC7A6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000087255 1070 1801 HDGF PKNOX1 FOXA2 MLX ARNT CREB3L1 AGO1 WRNIP1 ARID4B SIN3A

Genomic Location for SLC7A6 Gene

Chromosome:
16
Start:
68,263,830 bp from pter
End:
68,301,823 bp from pter
Size:
37,994 bases
Orientation:
Plus strand

Genomic View for SLC7A6 Gene

Genes around SLC7A6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC7A6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC7A6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC7A6 Gene

Proteins for SLC7A6 Gene

  • Protein details for SLC7A6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92536-YLAT2_HUMAN
    Recommended name:
    Y+L amino acid transporter 2
    Protein Accession:
    Q92536
    Secondary Accessions:
    • Q68DS4
    • Q7L1N3

    Protein attributes for SLC7A6 Gene

    Size:
    515 amino acids
    Molecular mass:
    56828 Da
    Quaternary structure:
    • Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc.
    SequenceCaution:
    • Sequence=BAA13376.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SLC7A6 Gene

Post-translational modifications for SLC7A6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SLC7A6 Gene

Domains & Families for SLC7A6 Gene

Gene Families for SLC7A6 Gene

Protein Domains for SLC7A6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC7A6 Gene

Graphical View of Domain Structure for InterPro Entry

Q92536

UniProtKB/Swiss-Prot:

YLAT2_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 SLC7A6: view

Function for SLC7A6 Gene

Molecular function for SLC7A6 Gene

GENATLAS Biochemistry:
solute carrier family 7,member A6,heterodimerizing with the cell surface glycoprotein to form a complex mediating y+L -type transporter exchanging cationic aminoacids and/or neutral aminoacids together with sodium,glycoprotein associated aminoacid transporter family
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=295 uM for glutamine (in the presence of NaCl) {ECO:0000269 PubMed:10903140}; KM=236 uM for leucine (in the presence of NaCl) {ECO:0000269 PubMed:10903140}; KM=120 uM for arginine (in the presence of NaCl) {ECO:0000269 PubMed:10903140}; KM=138 uM for arginine (in the absence of NaCl) {ECO:0000269 PubMed:10903140};
UniProtKB/Swiss-Prot EnzymeRegulation:
Arginine transport is strongly inhibited by lysine, glutamate, leucine, glutamine, methionine and histidine, in the presence of Na(+). Also inhibited by protein kinase C (PKC) and treatment with phorbol-12-myristate-13-acetate (PMA). Mutual inhibition is observed when leucine or glutamine is used as substrate. Inhibition of arginine and leucine uptake also occurs when SLC3A2/4F2hc is either truncated at its C-terminus or mutated at critical residues within the terminal 15 amino acids.
UniProtKB/Swiss-Prot Function:
Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Also acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L-arginine in monocytes. Reduces uptake of ornithine in retinal pigment epithelial (RPE) cells.

Gene Ontology (GO) - Molecular Function for SLC7A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015171 amino acid transmembrane transporter activity TAS,IEA 9829974
GO:0015179 L-amino acid transmembrane transporter activity IBA --
GO:0015297 antiporter activity IEA,IBA --
genes like me logo Genes that share ontologies with SLC7A6: view
genes like me logo Genes that share phenotypes with SLC7A6: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC7A6

CRISPR Products

miRNA for SLC7A6 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC7A6 Gene

Localization for SLC7A6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC7A6 Gene

Basolateral cell 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 SLC7A6 gene
Compartment Confidence
plasma membrane 5
extracellular 1

Gene Ontology (GO) - Cellular Components for SLC7A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA,TAS --
GO:0005887 integral component of plasma membrane TAS 9829974
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IEA --
genes like me logo Genes that share ontologies with SLC7A6: view

Pathways & Interactions for SLC7A6 Gene

genes like me logo Genes that share pathways with SLC7A6: view

Gene Ontology (GO) - Biological Process for SLC7A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly TAS 9829974
GO:0006520 cellular amino acid metabolic process TAS 9829974
GO:0006810 transport TAS 9829974
GO:0006865 amino acid transport TAS --
GO:0015807 L-amino acid transport IEA --
genes like me logo Genes that share ontologies with SLC7A6: view

No data available for SIGNOR curated interactions for SLC7A6 Gene

Drugs & Compounds for SLC7A6 Gene

(5) Drugs for SLC7A6 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Arginine Approved Nutra Full agonist, Agonist 0
Ornithine Nutra 71

(1) Additional Compounds for SLC7A6 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 SLC7A6: view

Transcripts for SLC7A6 Gene

mRNA/cDNA for SLC7A6 Gene

(7) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(16) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC7A6 Gene

Solute carrier family 7 (amino acid transporter light chain, y+L system), member 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC7A6 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d · 7e ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^
SP1:
SP2: -
SP3: - - - -
SP4:
SP5: - -
SP6: - -
SP7: -
SP8: - -
SP9:
SP10: - - -
SP11: - - -
SP12: - -
SP13: - - - -

ExUns: 15 ^ 16
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for SLC7A6 Gene

GeneLoc Exon Structure for
SLC7A6
ECgene alternative splicing isoforms for
SLC7A6

Expression for SLC7A6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC7A6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC7A6 Gene

This gene is overexpressed in Muscle - Skeletal (x9.2).

Protein differential expression in normal tissues from HIPED for SLC7A6 Gene

This gene is overexpressed in Placenta (57.2) and Bone (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC7A6 Gene



Protein tissue co-expression partners for SLC7A6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC7A6 Gene:

SLC7A6

SOURCE GeneReport for Unigene cluster for SLC7A6 Gene:

Hs.679580

mRNA Expression by UniProt/SwissProt for SLC7A6 Gene:

Q92536-YLAT2_HUMAN
Tissue specificity: Expressed in normal fibroblasts and those from LPI patients. Also expressed in HUVECs, monocytes, RPE cells, and various carcinoma cell lines.

Evidence on tissue expression from TISSUES for SLC7A6 Gene

  • Nervous system(3)
  • Lung(2.1)
  • Intestine(2)
genes like me logo Genes that share expression patterns with SLC7A6: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC7A6 Gene

Orthologs for SLC7A6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC7A6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC7A6 34 35
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia SLC7A6 34 35
  • 91.18 (n)
cow
(Bos Taurus)
Mammalia SLC7A6 34 35
  • 89.97 (n)
mouse
(Mus musculus)
Mammalia Slc7a6 34 16 35
  • 89.32 (n)
rat
(Rattus norvegicus)
Mammalia Slc7a6 34
  • 89.26 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC7A6 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC7A6 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC7A6 34 35
  • 72.18 (n)
lizard
(Anolis carolinensis)
Reptilia SLC7A6 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc7a6 34
  • 68.47 (n)
zebrafish
(Danio rerio)
Actinopterygii slc7a6 34 35
  • 72.44 (n)
Dr.18441 34
fruit fly
(Drosophila melanogaster)
Insecta CG1607 34
  • 57.19 (n)
mnd 36 35
  • 54 (a)
JhI-21 36 35
  • 48 (a)
CG6070 36
  • 44 (a)
gb 35
  • 42 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001627 34
  • 55.29 (n)
worm
(Caenorhabditis elegans)
Secernentea aat-1 34
  • 51.95 (n)
F52H2.2 36
  • 46 (a)
F27C8.1 36
  • 45 (a)
aat-2 35
  • 45 (a)
OneToMany
F07C3.7 36
  • 44 (a)
T13A10.10 36
  • 35 (a)
Y53H1C.1 36
  • 35 (a)
C55C2.5a 36
  • 33 (a)
C55C2.5b 36
  • 33 (a)
T11F9.4 36
  • 33 (a)
F54D12.3 36
  • 32 (a)
F28F9.4 36
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU03815 34
  • 49.11 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4067 34
Species where no ortholog for SLC7A6 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)
  • 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 SLC7A6 Gene

ENSEMBL:
Gene Tree for SLC7A6 (if available)
TreeFam:
Gene Tree for SLC7A6 (if available)

Paralogs for SLC7A6 Gene

Paralogs for SLC7A6 Gene

Pseudogenes.org Pseudogenes for SLC7A6 Gene

genes like me logo Genes that share paralogs with SLC7A6: view

Variants for SLC7A6 Gene

Sequence variations from dbSNP and Humsavar for SLC7A6 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000080359 -- 68,280,142(+) AGACA(C/T)AAATT intron-variant
rs1000109266 -- 68,289,560(+) CTTTT(C/T)ACCAC intron-variant
rs1000161981 -- 68,284,705(+) AAACC(A/G)GAAGC intron-variant
rs1000264895 -- 68,263,384(+) ACCAG(A/C)GAGGA upstream-variant-2KB
rs1000397244 -- 68,288,283(+) GAAGT(A/G)GGGTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC7A6 Gene

Variant ID Type Subtype PubMed ID
esv2675923 CNV deletion 23128226
esv3638904 CNV loss 21293372
nsv510691 CNV deletion 20534489

Variation tolerance for SLC7A6 Gene

Residual Variation Intolerance Score: 46.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.65; 56.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC7A6 Gene

Human Gene Mutation Database (HGMD)
SLC7A6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC7A6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC7A6 Gene

Disorders for SLC7A6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC7A6 Gene - From: DISEASES, Novoseek, 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 SLC7A6

Genetic Association Database (GAD)
SLC7A6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC7A6
genes like me logo Genes that share disorders with SLC7A6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC7A6 Gene

Publications for SLC7A6 Gene

  1. Human metabolic individuality in biomedical and pharmaceutical research. (PMID: 21886157) Suhre K. … Gieger C. (Nature 2011) 3 46 64
  2. Activation of classical protein kinase C decreases transport via systems y+ and y+L. (PMID: 17329401) Rotmann A. … Closs E.I. (Am. J. Physiol. 2007) 4 22 64
  3. A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance. (PMID: 15756301) Sperandeo M.P. … Sebastio G. (Eur. J. Hum. Genet. 2005) 4 22 64
  4. The heterodimeric amino acid transporter 4F2hc/y+LAT2 mediates arginine efflux in exchange with glutamine. (PMID: 10903140) Broeer A. … Broeer S. (Biochem. J. 2000) 3 4 64
  5. Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects. (PMID: 11078698) Dall'Asta V. … Gazzola G.C. (Am. J. Physiol. 2000) 4 22 64

Products for SLC7A6 Gene

Sources for SLC7A6 Gene

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