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Aliases for SLC3A2 Gene

Aliases for SLC3A2 Gene

  • Solute Carrier Family 3 Member 2 2 3 4 5
  • Lymphocyte Activation Antigen 4F2 Large Subunit 2 3 4
  • Solute Carrier Family 3 (Activators Of Dibasic And Neutral Amino Acid Transport), Member 2 2 3
  • Antigen Identified By Monoclonal Antibodies 4F2, TRA1.10, TROP4, And T43 2 3
  • Solute Carrier Family 3 (Amino Acid Transporter Heavy Chain), Member 2 2 3
  • 4F2 Cell-Surface Antigen Heavy Chain 2 3
  • Monoclonal Antibody 44D7 2 3
  • CD98 Heavy Chain 2 3
  • 4F2HC 3 4
  • MDU1 3 4
  • Antigen Defined By Monoclonal Antibody 4F2, Heavy Chain 3
  • Antigen Defined By Monoclonal Antibody 4F2 2
  • 4F2 Heavy Chain Antigen 4
  • 4F2 Heavy Chain 2
  • CD98 Antigen 4
  • Heavy Chain 2
  • CD98HC 3
  • 4T2HC 3
  • NACAE 3
  • CD98 3
  • 4F2 3

External Ids for SLC3A2 Gene

Previous HGNC Symbols for SLC3A2 Gene

  • MDU1

Previous GeneCards Identifiers for SLC3A2 Gene

  • GC11P065136
  • GC11P064199
  • GC11P062398
  • GC11P062380
  • GC11P062623
  • GC11P058952

Summaries for SLC3A2 Gene

Entrez Gene Summary for SLC3A2 Gene

  • This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. The encoded transporter plays a role in regulation of intracellular calcium levels and transports L-type amino acids. Alternatively spliced transcript variants, encoding different isoforms, have been characterized. [provided by RefSeq, Nov 2010]

GeneCards Summary for SLC3A2 Gene

SLC3A2 (Solute Carrier Family 3 Member 2) is a Protein Coding gene. Diseases associated with SLC3A2 include Lysinuric Protein Intolerance and Cystinuria. 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. GO annotations related to this gene include poly(A) RNA binding and neutral amino acid transmembrane transporter activity. An important paralog of this gene is SLC3A1.

UniProtKB/Swiss-Prot for SLC3A2 Gene

  • Required for the function of light chain amino-acid transporters. Involved in sodium-independent, high-affinity transport of large neutral amino acids such as phenylalanine, tyrosine, leucine, arginine and tryptophan. Involved in guiding and targeting of LAT1 and LAT2 to the plasma membrane. When associated with SLC7A6 or SLC7A7 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. Required for normal and neoplastic cell growth. When associated with SLC7A5/LAT1, is also involved in the transport of L-DOPA across the blood-brain barrier, and that of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell membrane in tissues such as placenta. 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. When associated with SLC7A5 or SLC7A8, involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. Together with ICAM1, regulates the transport activity LAT2 in polarized intestinal cells, by generating and delivering intracellular signals. When associated with SLC7A5, plays an important role in transporting L-leucine from the circulating blood to the retina across the inner blood-retinal barrier.

Gene Wiki entry for SLC3A2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC3A2 Gene

Genomics for SLC3A2 Gene

Regulatory Elements for SLC3A2 Gene

Enhancers for SLC3A2 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
GH11G062878 1.4 ENCODE dbSUPER 11.8 +25.8 25821 5.9 CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 MEF2D SNHG1 TAF6L INTS5 METTL12 NXF1 MTA2 LOC105369332 STX5 SLC3A2 SNORD28
GH11G062887 1.5 Ensembl ENCODE dbSUPER 10.9 +33.7 33748 4.0 PKNOX1 MLX ARID4B DMAP1 TCF12 ZNF121 DEK PAF1 NCOA1 PPARG BSCL2 TAF6L SLC3A2 SNHG1 SNORD28 SNORD22 SLC22A6 AHNAK TTC9C TMEM223
GH11G062830 1.4 ENCODE dbSUPER 11.3 -23.6 -23561 4.6 CREB3L1 AGO1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC SNHG1 METTL12 NXF1 TAF6L UBXN1 INTS5 IMMP1LP1 LOC105369332 STX5 MTA2
GH11G062884 1.2 dbSUPER 10.9 +29.5 29499 1.3 HDGF FOXA2 PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SNHG1 SLC3A2 SNORD28 SNORD22 TAF6L GANAB GC11P062886
GH11G062712 1.1 ENCODE dbSUPER 10.3 -142.1 -142087 3.5 ELF3 FOXA2 RAD21 YY1 EGR1 CREM CEBPB PPARG ZNF592 NR2F2 TTC9C UBXN1 LBHD1 LRRN4CL POLR2G GANAB B3GAT3 UQCC3 EML3 ROM1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC3A2 on UCSC Golden Path with GeneCards custom track

Promoters for SLC3A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000040484 -212 2801 CREB3L1 MLX AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3

Transcription factor binding sites by QIAGEN in the SLC3A2 gene promoter:

Genomic Location for SLC3A2 Gene

Chromosome:
11
Start:
62,856,012 bp from pter
End:
62,888,883 bp from pter
Size:
32,872 bases
Orientation:
Plus strand

Genomic View for SLC3A2 Gene

Genes around SLC3A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC3A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC3A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC3A2 Gene

Proteins for SLC3A2 Gene

  • Protein details for SLC3A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08195-4F2_HUMAN
    Recommended name:
    4F2 cell-surface antigen heavy chain
    Protein Accession:
    P08195
    Secondary Accessions:
    • Q13543

    Protein attributes for SLC3A2 Gene

    Size:
    630 amino acids
    Molecular mass:
    67994 Da
    Quaternary structure:
    • Disulfide-linked heterodimer of a glycosylated heavy chain and a non-glycosylated light chain (SLC7A5, SLC7A6, SLCA7A7, SLC7A8, SLC7A10 or SLCA7A11). Colocalizes with cadherins (By similarity). Interacts with FAM57A/CT120 and ICAM1. Constitutively and specifically associates with beta-1 integrins (alpha-2/beta-1, alpha-3/beta-1, alpha-5/beta-1 and alpha-6/beta-1), but minimally with alpha-4/beta-1.
    Miscellaneous:
    • Arginine uptake is inhibited by increasing concentrations of leucine in the presence of Na(+).

    Three dimensional structures from OCA and Proteopedia for SLC3A2 Gene

    Alternative splice isoforms for SLC3A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC3A2 Gene

Post-translational modifications for SLC3A2 Gene

  • Phosphorylation on Ser-406; Ser-408 or Ser-410 and on Ser-527 or Ser-531 by ecto-protein kinases favors heterotypic cell-cell interactions.
  • Ubiquitination at Lys122, Lys147, Lys160, isoforms=2, 3, 4171, isoforms=2, 3, 4217, and Lys245
  • Glycosylation at Asn365, Asn381, isoforms=2, 3, 4424, and isoforms=2, 3, 4506
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SLC3A2 (SLC3A2)

No data available for DME Specific Peptides for SLC3A2 Gene

Domains & Families for SLC3A2 Gene

Gene Families for SLC3A2 Gene

Suggested Antigen Peptide Sequences for SLC3A2 Gene

Graphical View of Domain Structure for InterPro Entry

P08195

UniProtKB/Swiss-Prot:

4F2_HUMAN :
  • Belongs to the SLC3A transporter family.
Family:
  • Belongs to the SLC3A transporter family.
genes like me logo Genes that share domains with SLC3A2: view

Function for SLC3A2 Gene

Molecular function for SLC3A2 Gene

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 Function:
Required for the function of light chain amino-acid transporters. Involved in sodium-independent, high-affinity transport of large neutral amino acids such as phenylalanine, tyrosine, leucine, arginine and tryptophan. Involved in guiding and targeting of LAT1 and LAT2 to the plasma membrane. When associated with SLC7A6 or SLC7A7 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. Required for normal and neoplastic cell growth. When associated with SLC7A5/LAT1, is also involved in the transport of L-DOPA across the blood-brain barrier, and that of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell membrane in tissues such as placenta. 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. When associated with SLC7A5 or SLC7A8, involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. Together with ICAM1, regulates the transport activity LAT2 in polarized intestinal cells, by generating and delivering intracellular signals. When associated with SLC7A5, plays an important role in transporting L-leucine from the circulating blood to the retina across the inner blood-retinal barrier.
UniProtKB/Swiss-Prot Induction:
Expression is induced in resting peripheral blood T-lymphocytes following PHA stimulation. Expression increases at the time of maximal DNA synthesis, in fibroblasts stimulated to divide. Expression and the uptake of leucine is stimulated in mononuclear, cytotrophoblast-like choriocarcinoma cells by combined treatment with PMA and calcium ionophore.

Gene Ontology (GO) - Molecular Function for SLC3A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0003725 double-stranded RNA binding IDA 21266579
GO:0003824 catalytic activity IEA --
GO:0005432 calcium:sodium antiporter activity TAS 10673541
GO:0005515 protein binding IPI 10506149
genes like me logo Genes that share ontologies with SLC3A2: view
genes like me logo Genes that share phenotypes with SLC3A2: view

Animal Models for SLC3A2 Gene

MGI Knock Outs for SLC3A2:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC3A2

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC3A2 Gene

Localization for SLC3A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC3A2 Gene

Apical cell membrane; Single-pass type II membrane protein. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Localized to the plasma membrane when associated with SLC7A5 or SLC7A8. Localized to the placental apical membrane. Located selectively at cell-cell adhesion sites (By similarity). Colocalized with SLC7A8/LAT2 at the basolateral membrane of kidney proximal tubules and small intestine epithelia. Expressed in both luminal and abluminal membranes of brain capillary endothelial cells (By similarity). {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 SLC3A2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 5
cytoskeleton 2
endoplasmic reticulum 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC3A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface IDA 19581412
GO:0016020 membrane IDA,IEA 19946888
genes like me logo Genes that share ontologies with SLC3A2: view

Pathways & Interactions for SLC3A2 Gene

genes like me logo Genes that share pathways with SLC3A2: view

Gene Ontology (GO) - Biological Process for SLC3A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006569 tryptophan catabolic process TAS --
GO:0006810 transport IEA --
GO:0006816 calcium ion transport NAS 3036867
GO:0006865 amino acid transport TAS 10673541
genes like me logo Genes that share ontologies with SLC3A2: view

No data available for SIGNOR curated interactions for SLC3A2 Gene

Drugs & Compounds for SLC3A2 Gene

(15) Drugs for SLC3A2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Levodopa Approved Pharma Agonist 402
Levothyroxine Approved Pharma 0
L-Arginine Approved Nutra Full agonist, Agonist 0
L-Cysteine Approved Nutra 0
L-Leucine Approved Nutra 0

(6) Additional Compounds for SLC3A2 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 SLC3A2: view

Transcripts for SLC3A2 Gene

Unigene Clusters for SLC3A2 Gene

Solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC3A2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - -
SP4: - -
SP5: - - - - -
SP6: -
SP7: - -
SP8: - - -
SP9: -

Relevant External Links for SLC3A2 Gene

GeneLoc Exon Structure for
SLC3A2
ECgene alternative splicing isoforms for
SLC3A2

Expression for SLC3A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC3A2 Gene

Protein differential expression in normal tissues from HIPED for SLC3A2 Gene

This gene is overexpressed in Nasal epithelium (13.2) and Testis (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC3A2 Gene



Protein tissue co-expression partners for SLC3A2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC3A2 Gene:

SLC3A2

SOURCE GeneReport for Unigene cluster for SLC3A2 Gene:

Hs.502769

mRNA Expression by UniProt/SwissProt for SLC3A2 Gene:

P08195-4F2_HUMAN
Tissue specificity: Expressed ubiquitously in all tissues tested with highest levels detected in kidney, placenta and testis and weakest level in thymus. During gestation, expression in the placenta was significantly stronger at full-term than at the mid-trimester stage. Expressed in HUVECS and at low levels in resting peripheral blood T-lymphocytes and quiescent fibroblasts. Also expressed in fetal liver and in the astrocytic process of primary astrocytic gliomas. Expressed in retinal endothelial cells and in the intestinal epithelial cell line C2BBe1.

Evidence on tissue expression from TISSUES for SLC3A2 Gene

  • Nervous system(5)
  • Lung(4.9)
  • Liver(4.8)
  • Kidney(4.7)
  • Intestine(4.6)
  • Bone marrow(4.5)
  • Skin(4.5)
  • Blood(4.2)
  • Stomach(3.9)
  • Eye(3.7)
  • Heart(3.5)
  • Pancreas(3.3)
  • Spleen(3.1)
  • Thyroid gland(2.8)
  • Muscle(2.5)
  • Lymph node(2.2)
genes like me logo Genes that share expression patterns with SLC3A2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC3A2 Gene

Orthologs for SLC3A2 Gene

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

Orthologs for SLC3A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC3A2 34 35
  • 99.41 (n)
dog
(Canis familiaris)
Mammalia SLC3A2 34 35
  • 83.93 (n)
cow
(Bos Taurus)
Mammalia SLC3A2 34 35
  • 82.1 (n)
mouse
(Mus musculus)
Mammalia Slc3a2 34 16 35
  • 78.67 (n)
rat
(Rattus norvegicus)
Mammalia Slc3a2 34
  • 77.76 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC3A2 35
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC3A2 35
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC3A2 35
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc3a2 34
  • 55.25 (n)
Str.150 34
zebrafish
(Danio rerio)
Actinopterygii slc3a2a 35
  • 42 (a)
OneToMany
slc3a2b 35
  • 40 (a)
OneToMany
SLC3A2 (3 of 4) 35
  • 39 (a)
OneToMany
SLC3A2 (4 of 4) 35
  • 26 (a)
OneToMany
Dr.6884 34
fruit fly
(Drosophila melanogaster)
Insecta CD98hc 35
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea atgp-1 35
  • 20 (a)
OneToMany
atgp-2 35
  • 16 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IMA1 35
  • 14 (a)
ManyToMany
IMA2 35
  • 14 (a)
ManyToMany
IMA3 35
  • 14 (a)
ManyToMany
IMA4 35
  • 14 (a)
ManyToMany
MAL12 35
  • 14 (a)
ManyToMany
MAL32 35
  • 14 (a)
ManyToMany
IMA5 35
  • 13 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7935 35
  • 20 (a)
OneToOne
Species where no ortholog for SLC3A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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 SLC3A2 Gene

ENSEMBL:
Gene Tree for SLC3A2 (if available)
TreeFam:
Gene Tree for SLC3A2 (if available)

Paralogs for SLC3A2 Gene

Paralogs for SLC3A2 Gene

genes like me logo Genes that share paralogs with SLC3A2: view

Variants for SLC3A2 Gene

Sequence variations from dbSNP and Humsavar for SLC3A2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000055291 -- 62,855,272(+) TGACA(G/T)TTGTT intron-variant, downstream-variant-500B, upstream-variant-2KB
rs1000139662 -- 62,860,697(+) TTCCA(A/T)TCCCA intron-variant
rs1000222769 -- 62,866,855(+) TATTG(A/C)ATTAC intron-variant
rs1000243041 -- 62,880,349(+) AAAAC(G/T)AGTGG intron-variant, upstream-variant-2KB
rs1000272936 -- 62,867,230(+) CAGGT(A/G)TTGCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC3A2 Gene

Variant ID Type Subtype PubMed ID
esv34011 CNV loss 18971310
esv3547886 CNV deletion 23714750
esv3626615 CNV loss 21293372
nsv1159903 CNV duplication 26073780
nsv508636 CNV deletion 20534489
nsv509416 CNV insertion 20534489

Variation tolerance for SLC3A2 Gene

Residual Variation Intolerance Score: 88.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.16; 39.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC3A2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC3A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC3A2 Gene

Disorders for SLC3A2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for SLC3A2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lysinuric protein intolerance
  • dibasic amino aciduria ii
cystinuria
  • csnu
halo nevi
  • leukoderma acquisitum centrifugum of sutton
mu chain disease
  • mu-chain disease
alpha chain disease
  • seligmann's disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC3A2

Genetic Association Database (GAD)
SLC3A2
Human Genome Epidemiology (HuGE) Navigator
SLC3A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC3A2
genes like me logo Genes that share disorders with SLC3A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC3A2 Gene

Publications for SLC3A2 Gene

  1. Ecto-phosphorylation of CD98 regulates cell-cell interactions. (PMID: 19065266) Nguyen H.T.T. … Merlin D. (PLoS ONE 2008) 3 4 22 64
  2. 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 22 46 64
  3. CD98 and intracellular adhesion molecule I regulate the activity of amino acid transporter LAT-2 in polarized intestinal epithelia. (PMID: 12716892) Liu X. … Merlin D. (J. Biol. Chem. 2003) 3 4 22 64
  4. Beta1 integrins show specific association with CD98 protein in low density membranes. (PMID: 11696247) Kolesnikova T.V. … Hemler M.E. (BMC Biochem. 2001) 3 4 22 64
  5. Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance. (PMID: 9829974) Torrents D. … Palacin M. (J. Biol. Chem. 1998) 3 4 22 64

Products for SLC3A2 Gene

Sources for SLC3A2 Gene

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