Human Gene SLC3A2 (ENST00000377890.6) from GENCODE V44
  Description: Homo sapiens solute carrier family 3 member 2 (SLC3A2), transcript variant 3, mRNA. (from RefSeq NM_002394)
RefSeq Summary (NM_002394): 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].
Gencode Transcript: ENST00000377890.6
Gencode Gene: ENSG00000168003.19
Transcript (Including UTRs)
   Position: hg38 chr11:62,856,102-62,888,793 Size: 32,692 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg38 chr11:62,856,270-62,888,693 Size: 32,424 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:62,856,102-62,888,793)mRNA (may differ from genome)Protein (630 aa)
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HGNCHPRDLynxMalacardsMGImyGene2
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: 4F2_HUMAN
DESCRIPTION: RecName: Full=4F2 cell-surface antigen heavy chain; Short=4F2hc; AltName: Full=4F2 heavy chain antigen; AltName: Full=Lymphocyte activation antigen 4F2 large subunit; AltName: CD_antigen=CD98;
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.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=295 uM for glutamine (in the presence of NaCl); KM=236 uM for leucine (in the presence of NaCl); KM=120 uM for arginine (in the presence of NaCl); KM=138 uM for arginine (in the absence of NaCl);
SUBUNIT: 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.
SUBCELLULAR LOCATION: 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).
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 Caco-2 BBe.
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.
PTM: 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.
MASS SPECTROMETRY: Mass=57944.93; Method=MALDI; Range=1-529; Source=PubMed:11840567;
MISCELLANEOUS: Arginine uptake is inhibited by increasing concentrations of leucine in the presence of Na(+).
SIMILARITY: Belongs to the SLC3A transporter family.

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: SLC3A2
Diseases sorted by gene-association score: lysinuric protein intolerance (12), cystinuria (11), halo nevi (4), mu chain disease (3), alpha chain disease (2), gamma heavy chain disease (2), null-cell leukemia (2), colon carcinoma in situ (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 57.75 RPKM in Kidney - Cortex
Total median expression: 1776.43 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -50.40168-0.300 Picture PostScript Text
3' UTR -9.30100-0.093 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015902 - Glyco_hydro_13
IPR013780 - Glyco_hydro_13_b
IPR006047 - Glyco_hydro_13_cat_dom
IPR013781 - Glyco_hydro_catalytic_dom
IPR017853 - Glycoside_hydrolase_SF

Pfam Domains:
PF00128 - Alpha amylase, catalytic domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DH2 - X-ray MuPIT 2DH3 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P08195
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0003725 double-stranded RNA binding
GO:0003824 catalytic activity
GO:0005432 calcium:sodium antiporter activity
GO:0005515 protein binding
GO:0015175 neutral amino acid transmembrane transporter activity
GO:0045296 cadherin binding

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0006816 calcium ion transport
GO:0006865 amino acid transport
GO:0015827 tryptophan transport
GO:0016049 cell growth
GO:0035725 sodium ion transmembrane transport
GO:0043330 response to exogenous dsRNA
GO:0050900 leukocyte migration
GO:1903801 L-leucine import into cell

Cellular Component:
GO:0005634 nucleus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0042470 melanosome
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC001061 - Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2, mRNA (cDNA clone MGC:2307 IMAGE:3505759), complete cds.
AK025584 - Homo sapiens cDNA: FLJ21931 fis, clone HEP04314, highly similar to AB018010 Homo sapiens mRNA for 4F2 heavy chain.
JD201857 - Sequence 182881 from Patent EP1572962.
JD275161 - Sequence 256185 from Patent EP1572962.
BC003000 - Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2, mRNA (cDNA clone MGC:3977 IMAGE:2821990), complete cds.
JD428157 - Sequence 409181 from Patent EP1572962.
JD323305 - Sequence 304329 from Patent EP1572962.
JD113536 - Sequence 94560 from Patent EP1572962.
JD293138 - Sequence 274162 from Patent EP1572962.
JD293139 - Sequence 274163 from Patent EP1572962.
JD330321 - Sequence 311345 from Patent EP1572962.
JD435596 - Sequence 416620 from Patent EP1572962.
JD262001 - Sequence 243025 from Patent EP1572962.
JD262002 - Sequence 243026 from Patent EP1572962.
JD448049 - Sequence 429073 from Patent EP1572962.
JD163720 - Sequence 144744 from Patent EP1572962.
JD488270 - Sequence 469294 from Patent EP1572962.
JD174854 - Sequence 155878 from Patent EP1572962.
JD233504 - Sequence 214528 from Patent EP1572962.
JD511363 - Sequence 492387 from Patent EP1572962.
JD311500 - Sequence 292524 from Patent EP1572962.
JD380480 - Sequence 361504 from Patent EP1572962.
AK304685 - Homo sapiens cDNA FLJ53699 complete cds, moderately similar to 4F2 cell-surface antigen heavy chain.
J03569 - Human lymphocyte activation antigen 4F2 large subunit mRNA, complete cds.
AK090758 - Homo sapiens cDNA FLJ33439 fis, clone BRACE2021695, highly similar to 4F2 CELL-SURFACE ANTIGEN HEAVY CHAIN.
AX746603 - Sequence 128 from Patent EP1308459.
AK304497 - Homo sapiens cDNA FLJ54090 complete cds, highly similar to 4F2 cell-surface antigen heavy chain.
AB018010 - Homo sapiens mRNA for 4F2 heavy chain, complete cds.
J02939 - Human membrane glycoprotein 4F2 antigen heavy chain mRNA.
AK225304 - Homo sapiens mRNA for solute carrier family 3, member 2 isoform a variant, clone: HEP01460.
J02769 - Human 4F2 antigen heavy chain mRNA, complete cds.
EU832683 - Synthetic construct Homo sapiens clone HAIB:100067712; DKFZo004A0732 solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 protein (SLC3A2) gene, encodes complete protein.
EU832612 - Synthetic construct Homo sapiens clone HAIB:100067641; DKFZo008A0731 solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 protein (SLC3A2) gene, encodes complete protein.
KJ892151 - Synthetic construct Homo sapiens clone ccsbBroadEn_01545 SLC3A2 gene, encodes complete protein.
E41391 - Amino acid transporting protein and gene thereof.
HV815688 - JP 2011083284-A/23: Amino Acid Transporter And Gene Thereof.
HV815711 - JP 2011084564-A/23: Amino Acid Transporter And Gene Thereof.
AK308797 - Homo sapiens cDNA, FLJ98838.
AK311592 - Homo sapiens cDNA, FLJ18634.
AF055031 - Homo sapiens clone 24551 mRNA sequence.
AK094620 - Homo sapiens cDNA FLJ37301 fis, clone BRAMY2015911, highly similar to 4F2 CELL-SURFACE ANTIGEN HEAVY CHAIN.
JD025276 - Sequence 6300 from Patent EP1572962.
JD034729 - Sequence 15753 from Patent EP1572962.
JD539799 - Sequence 520823 from Patent EP1572962.
JD058877 - Sequence 39901 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P08195 (Reactome details) participates in the following event(s):

R-HSA-375131 Basigin binds CD98 complex
R-HSA-352191 Metabolism of nitrogenous molecules
R-HSA-352232 Metabolism of nitrogenous molecules
R-HSA-376200 Metabolism of nitrogenous molecules
R-HSA-378513 SLC7A11-mediated exchange of extracellular cysteine and cytosolic glutamate
R-HSA-379426 SLC7A6 (y+LAT2)-mediated exchange of extracellular leucine for cytosolic arginine
R-HSA-379415 SLC7A7:SLC3A2 exchanges L-Arg for L-Leu, Na+ across the plasma membrane
R-HSA-210991 Basigin interactions
R-HSA-352230 Amino acid transport across the plasma membrane
R-HSA-71240 Tryptophan catabolism
R-HSA-202733 Cell surface interactions at the vascular wall
R-HSA-425374 Amino acid and oligopeptide SLC transporters
R-HSA-425393 Metabolism of nitrogenous molecules
R-HSA-6788656 Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism
R-HSA-109582 Hemostasis
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-382551 Transport of small molecules
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: 4F2_HUMAN, ENST00000377890.1, ENST00000377890.2, ENST00000377890.3, ENST00000377890.4, ENST00000377890.5, MDU1, NM_002394, P08195, Q13543, uc001nwd.1, uc001nwd.2, uc001nwd.3, uc001nwd.4
UCSC ID: ENST00000377890.6
RefSeq Accession: NM_002394
Protein: P08195 (aka 4F2_HUMAN)
CCDS: CCDS8039.2

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.