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Aliases for SLC3A2 Gene

Aliases for SLC3A2 Gene

  • Solute Carrier Family 3 Member 2 2 3 4
  • Solute Carrier Family 3 (Amino Acid Transporter Heavy Chain), Member 2 2 3 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
  • Monoclonal Antibody 44D7 2 3
  • CD98 Heavy Chain 2 3
  • 4F2HC 3 4
  • MDU1 3 4
  • Antigen Identified By Monoclonal Antibodies 4F2, TRA1.10, TROP4, And T43 3
  • Antigen Defined By Monoclonal Antibody 4F2, Heavy Chain 3
  • Antigen Identified By Monoclonal Antibodies 4F2 2
  • Antigen Defined By Monoclonal Antibody 4F2 2
  • 4F2 Cell-Surface Antigen Heavy Chain 2
  • 4F2 Heavy Chain Antigen 4
  • 4F2 Heavy Chain 2
  • CD98 Antigen 4
  • Heavy Chain 2
  • TRA1.10 2
  • And T43 2
  • CD98HC 3
  • TROP4 2
  • 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 Protein digestion and absorption and Glucose / Energy Metabolism. 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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around SLC3A2 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for SLC3A2 Gene at MOPED

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 Lys 122, Lys 147, Lys 160, Lys 171, Lys 217, and Lys 245
  • Glycosylation at Asn 365, Asn 381, Asn 424, and Asn 506
  • 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:0003824 catalytic activity IEA --
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

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
Jensen Localization Image for SLC3A2 Gene COMPARTMENTS Subcellular localization image for SLC3A2 gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 5
cytosol 3
cytoskeleton 2
endoplasmic reticulum 1
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:0005737 cytoplasm IDA --
GO:0042470 melanosome IEA --
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

Pathways by source for SLC3A2 Gene

Gene Ontology (GO) - Biological Process for SLC3A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport TAS --
GO:0016049 cell growth NAS 3476959
GO:0043330 response to exogenous dsRNA IMP 21266579
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Levodopa Approved Pharma Agonist 374
Levothyroxine Approved Pharma 0
L-Arginine Approved Nutra Full agonist, Agonist 0
L-Cysteine Approved Nutra 0
L-Leucine Approved Nutra 0

(7) 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:

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 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, MOPED, and MaxQB for SLC3A2 Gene



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.
genes like me logo Genes that share expression patterns with SLC3A2: view

Protein tissue co-expression partners for SLC3A2 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia SLC3A2 35
  • 82.1 (n)
  • 77.46 (a)
SLC3A2 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC3A2 35
  • 83.93 (n)
  • 81.1 (a)
SLC3A2 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc3a2 35
  • 78.67 (n)
  • 73.8 (a)
Slc3a2 16
Slc3a2 36
  • 70 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC3A2 35
  • 99.41 (n)
  • 99.47 (a)
SLC3A2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc3a2 35
  • 77.76 (n)
  • 75.09 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC3A2 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC3A2 36
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC3A2 36
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc3a2 35
  • 55.25 (n)
  • 50 (a)
Str.150 35
zebrafish
(Danio rerio)
Actinopterygii Dr.6884 35
SLC3A2 (3 of 4) 36
  • 39 (a)
OneToMany
SLC3A2 (4 of 4) 36
  • 26 (a)
OneToMany
slc3a2a 36
  • 42 (a)
OneToMany
slc3a2b 36
  • 40 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CD98hc 36
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea atgp-1 36
  • 20 (a)
OneToMany
atgp-2 36
  • 16 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IMA1 36
  • 14 (a)
ManyToMany
IMA2 36
  • 14 (a)
ManyToMany
IMA3 36
  • 14 (a)
ManyToMany
IMA4 36
  • 14 (a)
ManyToMany
IMA5 36
  • 13 (a)
ManyToMany
MAL12 36
  • 14 (a)
ManyToMany
MAL32 36
  • 14 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7935 36
  • 20 (a)
OneToOne
Species with no ortholog for SLC3A2:
  • 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
rs519425 -- 62,878,171(-) ttttg(G/T)ttttt intron-variant
rs519473 -- 62,879,741(-) TCAGA(A/G)AGGAG intron-variant, upstream-variant-2KB
rs521939 -- 62,873,421(+) gaggc(A/G)gaggt intron-variant
rs535854 -- 62,878,183(-) ATTCC(C/T)tttgt intron-variant
rs540791 -- 62,882,647(+) accca(A/G)ataat intron-variant

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

Variant ID Type Subtype PubMed ID
nsv483055 CNV Loss 15286789
nsv508636 CNV Loss 20534489
nsv509416 CNV Insertion 20534489
esv34011 CNV Loss 18971310

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

HapMap Linkage Disequilibrium report
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. Primary structure of the human 4F2 antigen heavy chain predicts a transmembrane protein with a cytoplasmic NH2 terminus. (PMID: 3036867) Teixeira S. … Kuehn L.C. (J. Biol. Chem. 1987) 2 3 4 67
  2. Prognostic significance of L-type amino acid transporter 1 (LAT1) and 4F2 heavy chain (CD98) expression in stage I pulmonary adenocarcinoma. (PMID: 19171406) Kaira K. … Mori M. (Lung Cancer 2009) 3 23
  3. Arginine transport in human erythroid cells: discrimination of CAT1 and 4F2hc/y+LAT2 roles. (PMID: 19562367) Rotoli B.M. … Dall'Asta V. (Pflugers Arch. 2009) 3 23
  4. CD98 expression is associated with poor prognosis in resected non-small-cell lung cancer with lymph node metastases. (PMID: 19777189) Kaira K. … Mori M. (Ann. Surg. Oncol. 2009) 3 23
  5. Progesterone and mifepristone regulate L-type amino acid transporter 2 and 4F2 heavy chain expression in uterine leiomyoma cells. (PMID: 19808856) Luo X. … Bulun S.E. (J. Clin. Endocrinol. Metab. 2009) 3 23

Products for SLC3A2 Gene

Sources for SLC3A2 Gene

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