Aliases for SLC38A2 Gene

Aliases for SLC38A2 Gene

  • Solute Carrier Family 38 Member 2 2 3 4 5
  • SNAT2 2 3 4
  • ATA2 2 3 4
  • SAT2 2 3 4
  • Sodium-Coupled Neutral Amino Acid Transporter 2 3 4
  • System A Amino Acid Transporter 2 3 4
  • System N Amino Acid Transporter 2 3 4
  • Amino Acid Transporter A2 3 4
  • System A Transporter 1 3 4
  • Protein 40-9-1 3 4
  • KIAA1382 2 4
  • Solute Carrier Family 38, Member 2 2
  • Amino Acid Transporter 2 3
  • PRO1068 3
  • SLC38A2 5

External Ids for SLC38A2 Gene

Previous GeneCards Identifiers for SLC38A2 Gene

  • GC12M046829
  • GC12M046649
  • GC12M046468
  • GC12M045038
  • GC12M043783
  • GC12M046751

Summaries for SLC38A2 Gene

GeneCards Summary for SLC38A2 Gene

SLC38A2 (Solute Carrier Family 38 Member 2) is a Protein Coding gene. Diseases associated with SLC38A2 include Adult Syndrome and Persistent Fetal Circulation Syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include symporter activity and amino acid transmembrane transporter activity. An important paralog of this gene is SLC38A4.

UniProtKB/Swiss-Prot Summary for SLC38A2 Gene

  • Functions as a sodium-dependent amino acid transporter. Mediates the saturable, pH-sensitive and electrogenic cotransport of neutral amino acids and sodium ions with a stoichiometry of 1:1. May function in the transport of amino acids at the blood-brain barrier and in the supply of maternal nutrients to the fetus through the placenta.

Gene Wiki entry for SLC38A2 Gene

Additional gene information for SLC38A2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC38A2 Gene

Genomics for SLC38A2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC38A2 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
GH12J046364 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 611.9 +3.2 3190 11 SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 REST TFE3 SOX13 ZNF692 ENSG00000258096 SLC38A2 ARID2 SCAF11 KNOP1P2 ENSG00000273015 SLC38A1 ENSG00000257261 LOC102723757 lnc-SLC38A1-5
GH12J045983 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.4 +384.5 384544 9.9 RNF2 SP1 HNRNPL CREB1 GATAD2A CTCF ATF7 TEAD4 PRDM10 REST SCAF11 ENSG00000273015 KNOP1P2 ARID2 ENSG00000258096 SLC38A2 SLC38A4 lnc-ARID2-14 lnc-SLC38A1-7 MN309458
GH12J045723 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 +643.7 643691 10.6 SP1 HNRNPL CREB1 GATAD2A CTCF TEAD4 PRDM10 REST ZNF629 TFE3 ARID2 ENSG00000273015 LINC00938 ENSG00000258096 KNOP1P2 SCAF11 SLC38A2 ANO6
GH12J046263 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 +105.5 105489 8.5 RNF2 CEBPG HNRNPL CREB1 GATAD2A CTCF TEAD4 ZNF629 PRDM10 TFE3 LOC105378248 SLC38A1 lnc-ARID2-8 ARID2 KNOP1P2 SCAF11 ENSG00000258096 ENSG00000257261 ENSG00000273015 SLC38A2
GH12J046382 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.1 -15.0 -15039 11.2 CEBPG SP1 HNRNPL CREB1 GATAD2A ATF7 TEAD4 PRDM10 REST ZNF629 ENSG00000275481 ARID2 KNOP1P2 ENSG00000273015 SLC38A2 ENSG00000257261 LOC100288798 ENSG00000257496 SLC38A4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC38A2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC38A2

Top Transcription factor binding sites by QIAGEN in the SLC38A2 gene promoter:
  • aMEF-2
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • HNF-3beta
  • MEF-2A
  • Nkx6-1

Genomic Locations for SLC38A2 Gene

Genomic Locations for SLC38A2 Gene
chr12:46,358,188-46,372,774
(GRCh38/hg38)
Size:
14,587 bases
Orientation:
Minus strand
chr12:46,751,971-46,766,650
(GRCh37/hg19)
Size:
14,680 bases
Orientation:
Minus strand

Genomic View for SLC38A2 Gene

Genes around SLC38A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC38A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC38A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC38A2 Gene

Proteins for SLC38A2 Gene

  • Protein details for SLC38A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96QD8-S38A2_HUMAN
    Recommended name:
    Sodium-coupled neutral amino acid transporter 2
    Protein Accession:
    Q96QD8
    Secondary Accessions:
    • Q6IA88
    • Q6ZMG2
    • Q9HAV3
    • Q9NVA8
    • Q9P2G5

    Protein attributes for SLC38A2 Gene

    Size:
    506 amino acids
    Molecular mass:
    56026 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAD18765.1; Type=Erroneous initiation; Evidence={ECO:0000305};
    Miscellaneous:
    • Depletion of SCL38A2 by siRNA prevents the recovery of cells from hypertonic stress.

    Alternative splice isoforms for SLC38A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC38A2 Gene

Post-translational modifications for SLC38A2 Gene

  • Polyubiquitination by NEDD4L regulates the degradation and the activity of SLC38A2.
  • Glycosylation at Asn258 and Asn274
  • Ubiquitination at Lys33 and Lys38
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC38A2 Gene

No data available for DME Specific Peptides for SLC38A2 Gene

Domains & Families for SLC38A2 Gene

Gene Families for SLC38A2 Gene

Protein Domains for SLC38A2 Gene

InterPro:
Blocks:
  • Bacterial regulatory protein LysR, HTH motif
ProtoNet:

Suggested Antigen Peptide Sequences for SLC38A2 Gene

GenScript: Design optimal peptide antigens:
  • System N amino acid transporter 2 (S38A2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96QD8

UniProtKB/Swiss-Prot:

S38A2_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 SLC38A2: view

Function for SLC38A2 Gene

Molecular function for SLC38A2 Gene

UniProtKB/Swiss-Prot Function:
Functions as a sodium-dependent amino acid transporter. Mediates the saturable, pH-sensitive and electrogenic cotransport of neutral amino acids and sodium ions with a stoichiometry of 1:1. May function in the transport of amino acids at the blood-brain barrier and in the supply of maternal nutrients to the fetus through the placenta.
UniProtKB/Swiss-Prot Induction:
Up-regulated upon hypertonic conditions and amino acid deprivation.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.39 mM for 2-methylamino-isobutyric acid (MeAIB) (at pH 8.0);
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by N-methyl-D-glucamine and probably choline.

Phenotypes From GWAS Catalog for SLC38A2 Gene

Gene Ontology (GO) - Molecular Function for SLC38A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005295 neutral amino acid:sodium symporter activity IDA 10930503
GO:0005515 protein binding IPI 25759021
GO:0015171 amino acid transmembrane transporter activity TAS --
GO:0015186 L-glutamine transmembrane transporter activity ISS --
GO:0015194 L-serine transmembrane transporter activity ISS --
genes like me logo Genes that share ontologies with SLC38A2: view
genes like me logo Genes that share phenotypes with SLC38A2: view

Animal Models for SLC38A2 Gene

MGI Knock Outs for SLC38A2:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC38A2

CRISPR Products

miRNA for SLC38A2 Gene

miRTarBase miRNAs that target SLC38A2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC38A2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC38A2 Gene

Localization for SLC38A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC38A2 Gene

Cell membrane. Multi-pass membrane protein. Note=Insulin promotes recruitment to the plasma membrane from a pool localized in the trans-Golgi network or endosomes (By similarity). Enriched in the somatodendritic compartment of neurons, it is also detected at the axonal shaft but excluded from the nerve terminal. {ECO:0000250}.

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 SLC38A2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
cytoskeleton 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC38A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 15581851
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0005903 brush border IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SLC38A2: view

Pathways & Interactions for SLC38A2 Gene

genes like me logo Genes that share pathways with SLC38A2: view

Gene Ontology (GO) - Biological Process for SLC38A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003333 amino acid transmembrane transport IMP 10930503
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006865 amino acid transport TAS --
GO:0006868 glutamine transport ISS --
genes like me logo Genes that share ontologies with SLC38A2: view

No data available for SIGNOR curated interactions for SLC38A2 Gene

Drugs & Compounds for SLC38A2 Gene

(5) Drugs for SLC38A2 Gene - From: DrugBank, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Asparagine Approved, Investigational Nutra Target, inhibitor 36
L-Glutamine Approved, Investigational Nutra Agonist, Full agonist, Transporter, substrate 0
[<sup>14</sup>C]alanine Pharma 0
[<sup>3</sup>H]alanine Pharma 0

(4) Additional Compounds for SLC38A2 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 SLC38A2: view

Transcripts for SLC38A2 Gene

mRNA/cDNA for SLC38A2 Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
14 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 SLC38A2

Alternative Splicing Database (ASD) splice patterns (SP) for SLC38A2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17
SP1: - - - -
SP2: - - - - -
SP3:
SP4: - -
SP5:
SP6: -
SP7:

Relevant External Links for SLC38A2 Gene

GeneLoc Exon Structure for
SLC38A2

Expression for SLC38A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC38A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC38A2 Gene

This gene is overexpressed in Amniocyte (33.4) and Liver (21.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC38A2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC38A2

SOURCE GeneReport for Unigene cluster for SLC38A2 Gene:

Hs.221847

mRNA Expression by UniProt/SwissProt for SLC38A2 Gene:

Q96QD8-S38A2_HUMAN
Tissue specificity: Ubiquitously expressed. Widely expressed in the central nervous system with higher concentrations in caudal regions. Expressed by glutamatergic and GABAergic neurons together with astrocytes and other non-neuronal cells in the cerebral cortex (at protein level).

Evidence on tissue expression from TISSUES for SLC38A2 Gene

  • Nervous system(5)
  • Eye(4.6)
  • Muscle(4.3)
  • Liver(4)
  • Heart(3)
  • Intestine(3)
  • Kidney(2.9)
  • Skin(2.9)
  • Lung(2.8)
  • Stomach(2.8)
  • Blood(2.5)
  • Adrenal gland(2.5)
  • Spleen(2.5)
  • Thyroid gland(2.4)
  • Pancreas(2.4)
  • Bone marrow(2.4)
  • Lymph node(2.2)
  • Gall bladder(2)
genes like me logo Genes that share expression patterns with SLC38A2: 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 SLC38A2 Gene

Orthologs for SLC38A2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SLC38A2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC38A2 30 31
  • 99.87 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC38A2 30 31
  • 91.55 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC38A2 30 31
  • 91.3 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 85 (a)
OneToMany
-- 31
  • 68 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia SLC38A2 31
  • 85 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc38a2 30
  • 83.4 (n)
Mouse
(Mus musculus)
Mammalia Slc38a2 30 17 31
  • 82.84 (n)
OneToOne
Chicken
(Gallus gallus)
Aves SLC38A2 30 31
  • 78.13 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC38A2 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc38a2 30
  • 71.84 (n)
Zebrafish
(Danio rerio)
Actinopterygii slc38a2 30 31
  • 67 (n)
OneToOne
Species where no ortholog for SLC38A2 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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 Squirt (Ciona savignyi)
  • 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 SLC38A2 Gene

ENSEMBL:
Gene Tree for SLC38A2 (if available)
TreeFam:
Gene Tree for SLC38A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC38A2: view image

Paralogs for SLC38A2 Gene

(5) SIMAP similar genes for SLC38A2 Gene using alignment to 3 proteins:

  • S38A2_HUMAN
  • F8VQW8_HUMAN
  • F8VUY8_HUMAN
genes like me logo Genes that share paralogs with SLC38A2: view

Variants for SLC38A2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC38A2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
715519 Benign: not provided 46,365,162(-) C/T SYNONYMOUS_VARIANT
791632 Benign: not provided 46,367,083(-) G/A SYNONYMOUS_VARIANT
rs11183450 - p.Asn48Lys

Additional dbSNP identifiers (rs#s) for SLC38A2 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC38A2 Gene

Variant ID Type Subtype PubMed ID
nsv832398 CNV gain 17160897

Variation tolerance for SLC38A2 Gene

Residual Variation Intolerance Score: 33% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.48; 28.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC38A2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC38A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC38A2 Gene

Disorders for SLC38A2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC38A2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
adult syndrome
  • acro-dermato-ungual-lacrimal-tooth syndrome
persistent fetal circulation syndrome
  • congenital alveolar capillary dysplasia with misalignment of pulmonary veins
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with SLC38A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC38A2 Gene

Publications for SLC38A2 Gene

  1. SNAT2 silencing prevents the osmotic induction of transport system A and hinders cell recovery from hypertonic stress. (PMID: 15922329) Bevilacqua E … Franchi-Gazzola R (FEBS letters 2005) 3 4 23
  2. Transcriptional control of the human sodium-coupled neutral amino acid transporter system A gene by amino acid availability is mediated by an intronic element. (PMID: 14623874) Palii SS … Kilberg MS (The Journal of biological chemistry 2004) 3 4 23
  3. IL-6 stimulates system A amino acid transporter activity in trophoblast cells through STAT3 and increased expression of SNAT2. (PMID: 19741197) Jones HN … Powell TL (American journal of physiology. Cell physiology 2009) 3 23
  4. The sodium-coupled neutral amino acid transporter SNAT2 mediates an anion leak conductance that is differentially inhibited by transported substrates. (PMID: 17237199) Zhang Z … Grewer C (Biophysical journal 2007) 2 3
  5. Localization of the Na(+)-coupled neutral amino acid transporter 2 in the cerebral cortex. (PMID: 16616430) Melone M … Conti F (Neuroscience 2006) 3 4

Products for SLC38A2 Gene

Sources for SLC38A2 Gene