Aliases for SLC7A13 Gene

Aliases for SLC7A13 Gene

  • Solute Carrier Family 7 Member 13 2 3 4 5
  • XAT2 2 3 4
  • Solute Carrier Family 7 (Anionic Amino Acid Transporter), Member 13 2 3
  • Sodium-Independent Aspartate/Glutamate Transporter 1 3 4
  • X-Amino Acid Transporter 2 3 4
  • AGT-1 2 3
  • AGT1 3 4
  • Solute Carrier Family 7, (Cationic Amino Acid Transporter, Y+ System) Member 13 3
  • Amino Acid Transporter XAT2 3
  • SLC7A13 5

External Ids for SLC7A13 Gene

Previous GeneCards Identifiers for SLC7A13 Gene

  • GC08M086895
  • GC08M087182
  • GC08M087295
  • GC08M082438

Summaries for SLC7A13 Gene

GeneCards Summary for SLC7A13 Gene

SLC7A13 (Solute Carrier Family 7 Member 13) is a Protein Coding gene. Diseases associated with SLC7A13 include Epileptic Encephalopathy, Early Infantile, 3 and Hyperekplexia 3. Gene Ontology (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 SLC7A6.

UniProtKB/Swiss-Prot Summary for SLC7A13 Gene

  • Mediates the transport L-aspartate and L-glutamate in a sodium-independent manner.

Additional gene information for SLC7A13 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC7A13 Gene

Genomics for SLC7A13 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC7A13 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
GH08J086319 Enhancer 0.9 Ensembl ENCODE 600.7 -0.1 -55 2.8 GATAD2A REST SP1 CEBPA SOX13 MNT FOXA2 YY1 ZBTB33 JUND SLC7A13 lnc-SLC7A13-3 RMDN1 WWP1 lnc-SLC7A13-1
GH08J086108 Enhancer 1 Ensembl ENCODE 10.6 +212.4 212445 3.4 CREB1 ARID3A PRDM10 ZNF629 TARDBP ZHX2 JUND POLR2A PATZ1 SOX6 RF00017-7161 ENSG00000253699 SLC7A13 ENSG00000254231 WWP1 CA2 CA3-AS1 PSKH2 ENSG00000253675 ATP6V0D2
GH08J086370 Enhancer 0.4 Ensembl 10.7 -49.3 -49254 1.6 ATF7 JUN ATF2 JUND RF00693-003 RMDN1 WWP1 ENSG00000254231 SLC7A13 LOC105375624
GH08J086204 Enhancer 0.3 Ensembl 10.7 +116.2 116245 1 MAFK RAD21 ENSG00000253699 SLC7A13 ENSG00000254231 WWP1 LOC105375623 RF00017-7162 piR-32470-071 PSKH2
GH08J086305 Enhancer 0.9 Ensembl ENCODE 0.4 +15.4 15445 1.4 ZNF629 RFX1 SCRT2 SP1 EZH2 TSHZ1 FOS FOXA2 JUN JUND WWP1 piR-31926-036 piR-54987-137 SLC7A13 lnc-SLC7A13-3 PSKH2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC7A13 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC7A13

Top Transcription factor binding sites by QIAGEN in the SLC7A13 gene promoter:
  • C/EBPbeta
  • HEN1
  • HNF-1
  • HNF-1A
  • HTF
  • Ik-3
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c

Genomic Locations for SLC7A13 Gene

Genomic Locations for SLC7A13 Gene
chr8:86,213,909-86,321,146
(GRCh38/hg38)
Size:
107,238 bases
Orientation:
Minus strand
chr8:87,226,281-87,333,375
(GRCh37/hg19)
Size:
107,095 bases
Orientation:
Minus strand

Genomic View for SLC7A13 Gene

Genes around SLC7A13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC7A13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC7A13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC7A13 Gene

Proteins for SLC7A13 Gene

  • Protein details for SLC7A13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TCU3-S7A13_HUMAN
    Recommended name:
    Solute carrier family 7 member 13
    Protein Accession:
    Q8TCU3
    Secondary Accessions:
    • Q05C37
    • Q08AH9
    • Q96N84

    Protein attributes for SLC7A13 Gene

    Size:
    470 amino acids
    Molecular mass:
    52114 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC7A13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC7A13 Gene

Post-translational modifications for SLC7A13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC7A13 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC7A13 Gene

Domains & Families for SLC7A13 Gene

Gene Families for SLC7A13 Gene

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

Protein Domains for SLC7A13 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC7A13 Gene

GenScript: Design optimal peptide antigens:
  • X-amino acid transporter 2 (S7A13_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TCU3

UniProtKB/Swiss-Prot:

S7A13_HUMAN :
  • Belongs to the amino acid-polyamine-organocation (APC) superfamily.
Family:
  • Belongs to the amino acid-polyamine-organocation (APC) superfamily.
genes like me logo Genes that share domains with SLC7A13: view

Function for SLC7A13 Gene

Molecular function for SLC7A13 Gene

UniProtKB/Swiss-Prot Function:
Mediates the transport L-aspartate and L-glutamate in a sodium-independent manner.

Phenotypes From GWAS Catalog for SLC7A13 Gene

Gene Ontology (GO) - Molecular Function for SLC7A13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015179 L-amino acid transmembrane transporter activity IBA 21873635
GO:0022857 transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC7A13: view
genes like me logo Genes that share phenotypes with SLC7A13: view

Animal Models for SLC7A13 Gene

MGI Knock Outs for SLC7A13:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC7A13

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC7A13

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC7A13 Gene

Localization for SLC7A13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC7A13 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 SLC7A13 gene
Compartment Confidence
plasma membrane 3
extracellular 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for SLC7A13 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 SLC7A13: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC7A13 Gene

Pathways & Interactions for SLC7A13 Gene

PathCards logo

SuperPathways for SLC7A13 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SLC7A13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003333 amino acid transmembrane transport IBA 21873635
GO:0006865 amino acid transport IEA --
GO:0055085 transmembrane transport IEA --
GO:1902475 L-alpha-amino acid transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC7A13: view

No data available for Pathways by source and SIGNOR curated interactions for SLC7A13 Gene

Drugs & Compounds for SLC7A13 Gene

(1) Additional Compounds for SLC7A13 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 SLC7A13: view

Transcripts for SLC7A13 Gene

mRNA/cDNA for SLC7A13 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 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 SLC7A13

Alternative Splicing Database (ASD) splice patterns (SP) for SLC7A13 Gene

No ASD Table

Relevant External Links for SLC7A13 Gene

GeneLoc Exon Structure for
SLC7A13

Expression for SLC7A13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC7A13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC7A13 Gene

This gene is overexpressed in Kidney - Cortex (x38.1) and Testis (x5.7).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC7A13

SOURCE GeneReport for Unigene cluster for SLC7A13 Gene:

Hs.149095

mRNA Expression by UniProt/SwissProt for SLC7A13 Gene:

Q8TCU3-S7A13_HUMAN
Tissue specificity: Expressed in the kidney.

Evidence on tissue expression from TISSUES for SLC7A13 Gene

  • Kidney(4.5)
genes like me logo Genes that share expression patterns with SLC7A13: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC7A13 Gene

Orthologs for SLC7A13 Gene

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

Orthologs for SLC7A13 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC7A13 30 31
  • 99.29 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC7A13 30 31
  • 80.07 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc7a13 30 17 31
  • 76.38 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc7a13 30
  • 75.6 (n)
Cow
(Bos Taurus)
Mammalia -- 31
  • 51 (a)
OneToMany
-- 31
  • 49 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC7A13 31
  • 51 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC7A13 31
  • 50 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC7A13 31
  • 44 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC7A13 31
  • 44 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii CABZ01074334.1 31
  • 29 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea aat-8 31
  • 25 (a)
ManyToMany
aat-4 31
  • 24 (a)
ManyToMany
aat-7 31
  • 24 (a)
ManyToMany
aat-9 31
  • 23 (a)
ManyToMany
aat-5 31
  • 22 (a)
ManyToMany
aat-6 31
  • 21 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MUP3 31
  • 17 (a)
ManyToMany
MUP1 31
  • 17 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.158 31
  • 30 (a)
ManyToMany
Species where no ortholog for SLC7A13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for SLC7A13 Gene

ENSEMBL:
Gene Tree for SLC7A13 (if available)
TreeFam:
Gene Tree for SLC7A13 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC7A13: view image

Paralogs for SLC7A13 Gene

(9) SIMAP similar genes for SLC7A13 Gene using alignment to 1 proteins:

  • S7A13_HUMAN

Pseudogenes.org Pseudogenes for SLC7A13 Gene

genes like me logo Genes that share paralogs with SLC7A13: view

Variants for SLC7A13 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC7A13 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs2976189 - p.Val249Met
rs4419794 - p.Arg380Lys
rs9656982 - p.Met452Thr
rs9693999 - p.Glu470Lys

Additional dbSNP identifiers (rs#s) for SLC7A13 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC7A13 Gene

Variant ID Type Subtype PubMed ID
dgv12228n54 CNV gain 21841781
dgv7263n100 CNV gain 25217958
esv2761445 CNV gain 21179565
esv2762757 CNV gain 21179565
esv3617906 CNV gain 21293372
nsv428204 CNV gain 18775914
nsv465733 CNV gain 19166990
nsv519507 CNV gain+loss 19592680
nsv611674 CNV gain 21841781
nsv6290 CNV deletion 18451855

Variation tolerance for SLC7A13 Gene

Residual Variation Intolerance Score: 92.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.84; 94.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC7A13 Gene

Human Gene Mutation Database (HGMD)
SLC7A13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC7A13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC7A13 Gene

Disorders for SLC7A13 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SLC7A13 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC7A13

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 SLC7A13: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC7A13 Gene

Publications for SLC7A13 Gene

  1. Homologues of amino acid permeases: cloning and tissue expression of XAT1 and XAT2. (PMID: 11943479) Blondeau JP (Gene 2002) 2 3 4
  2. 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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Identification of a novel Na+-independent acidic amino acid transporter with structural similarity to the member of a heterodimeric amino acid transporter family associated with unknown heavy chains. (PMID: 11907033) Matsuo H … Endou H (The Journal of biological chemistry 2002) 2 3
  5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3

Products for SLC7A13 Gene

Sources for SLC7A13 Gene