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SLC3A2 solute carrier family 3 (amino acid transporter heavy chain), member 2 [ Homo sapiens (human) ]

Gene ID: 6520, updated on 7-Aug-2014
Official Symbol
SLC3A2provided by HGNC
Official Full Name
solute carrier family 3 (amino acid transporter heavy chain), member 2provided by HGNC
Primary source
HGNC:11026
See related
Ensembl:ENSG00000168003; HPRD:01148; MIM:158070; Vega:OTTHUMG00000074091
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
4F2; CD98; MDU1; 4F2HC; 4T2HC; NACAE; CD98HC
Summary
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]
See SLC3A2 in Epigenomics, MapViewer
Location:
11q13
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (62856012..62888883)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (62623484..62656355)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, C/D box 26 Neighboring gene small nucleolar RNA host gene 1 (non-protein coding) Neighboring gene small nucleolar RNA, C/D box 25 Neighboring gene cholinergic receptor, muscarinic 1 Neighboring gene solute carrier family 22 (organic anion transporter), member 6

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env Antibodies raised against the human fusion regulatory protein 1 (FRP-1; CD98) molecule suppress cell fusion mediated by HIV-1 gp160 PubMed
env The functional interaction between CD98 and CD147 is involved in the regulation of HIV-1 gp160-mediated cell fusion PubMed

Go to the HIV-1, Human Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium:sodium antiporter activity TAS
Traceable Author Statement
more info
PubMed 
catalytic activity IEA
Inferred from Electronic Annotation
more info
 
cation binding IEA
Inferred from Electronic Annotation
more info
 
double-stranded RNA binding IDA
Inferred from Direct Assay
more info
 
neutral amino acid transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
amino acid transport TAS
Traceable Author Statement
more info
PubMed 
blood coagulation TAS
Traceable Author Statement
more info
 
calcium ion transport NAS
Non-traceable Author Statement
more info
PubMed 
carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
cell growth NAS
Non-traceable Author Statement
more info
PubMed 
ion transport TAS
Traceable Author Statement
more info
 
leucine import ISS
Inferred from Sequence or Structural Similarity
more info
 
leukocyte migration TAS
Traceable Author Statement
more info
 
response to exogenous dsRNA IMP
Inferred from Mutant Phenotype
more info
 
sodium ion transmembrane transport TAS
Traceable Author Statement
more info
PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
 
tryptophan transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cell junction IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
melanosome IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
4F2 cell-surface antigen heavy chain
Names
4F2 cell-surface antigen heavy chain
CD98 heavy chain
monoclonal antibody 44D7
solute carrier family 3 member 2
lymphocyte activation antigen 4F2 large subunit
antigen defined by monoclonal antibody 4F2, heavy chain
antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43
solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001012662.2NP_001012680.1  4F2 cell-surface antigen heavy chain isoform b

    See proteins identical to NP_001012680.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (b).
    Source sequence(s)
    AA594112, AK025584, BC001061, DC395235
    Consensus CDS
    CCDS31588.1
    UniProtKB/TrEMBL
    J3KPF3
    UniProtKB/Swiss-Prot
    P08195
    Related
    ENSP00000367123, OTTHUMP00000236708, ENST00000377891, OTTHUMT00000396040
    Conserved Domains (3) summary
    cd11345
    Location:208537
    Blast Score: 1253
    AmyAc_SLC3A2; Alpha amylase catalytic domain found in solute carrier family 3 member 2 proteins
    COG0366
    Location:238597
    Blast Score: 293
    AmyA; Glycosidases [Carbohydrate transport and metabolism]
    pfam11941
    Location:520625
    Blast Score: 85
    DUF3459; Domain of unknown function (DUF3459)
  2. NM_001012664.2NP_001012682.1  4F2 cell-surface antigen heavy chain isoform e

    See proteins identical to NP_001012682.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two alternate in-frame exons, compared to variant 2, resulting in a shorter protein (isoform e).
    Source sequence(s)
    AA594112, BC003000, DC395235
    Consensus CDS
    CCDS31589.1
    UniProtKB/Swiss-Prot
    P08195
    Related
    ENSP00000367121, OTTHUMP00000236709, ENST00000377889, OTTHUMT00000396041
    Conserved Domains (3) summary
    cd11345
    Location:145474
    Blast Score: 1248
    AmyAc_SLC3A2; Alpha amylase catalytic domain found in solute carrier family 3 member 2 proteins
    COG0366
    Location:175534
    Blast Score: 293
    AmyA; Glycosidases [Carbohydrate transport and metabolism]
    pfam11941
    Location:457562
    Blast Score: 84
    DUF3459; Domain of unknown function (DUF3459)
  3. NM_001013251.2NP_001013269.1  4F2 cell-surface antigen heavy chain isoform f

    See proteins identical to NP_001013269.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and lacks several in-frame exons of the 5' coding region, compared to variant 2. These differences cause translation initiation at a downstream ATG and an isoform (f) with a shorter N-terminus compared to isoform b.
    Source sequence(s)
    AA594112, AB018010, BX443653
    Consensus CDS
    CCDS31590.1
    UniProtKB/Swiss-Prot
    P08195
    Related
    ENSP00000340815, OTTHUMP00000236712, ENST00000338663, OTTHUMT00000396044
    Conserved Domains (3) summary
    cd11345
    Location:106435
    Blast Score: 1248
    AmyAc_SLC3A2; Alpha amylase catalytic domain found in solute carrier family 3 member 2 proteins
    COG0366
    Location:136495
    Blast Score: 293
    AmyA; Glycosidases [Carbohydrate transport and metabolism]
    pfam11941
    Location:418523
    Blast Score: 84
    DUF3459; Domain of unknown function (DUF3459)
  4. NM_002394.5NP_002385.3  4F2 cell-surface antigen heavy chain isoform c

    See proteins identical to NP_002385.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate in-frame exon and lacks an alternate exon in the 5' coding region, compared to variant 2, resulting in a shorter protein (isoform c).
    Source sequence(s)
    AA594112, BC001061, DC395235
    Consensus CDS
    CCDS8039.2
    UniProtKB/Swiss-Prot
    P08195
    Related
    ENSP00000367122, OTTHUMP00000082735, ENST00000377890, OTTHUMT00000157306
    Conserved Domains (3) summary
    cd11345
    Location:207536
    Blast Score: 1249
    AmyAc_SLC3A2; Alpha amylase catalytic domain found in solute carrier family 3 member 2 proteins
    COG0366
    Location:237596
    Blast Score: 293
    AmyA; Glycosidases [Carbohydrate transport and metabolism]
    pfam11941
    Location:519624
    Blast Score: 84
    DUF3459; Domain of unknown function (DUF3459)

RNA

  1. NR_037193.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) has multiple differences compared to variant 2. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 2.
    Source sequence(s)
    AA594112, AF055031, AK308797, BC001061

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

    Range
    62856012..62888883
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    58952521..58985401
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    62506504..62539366
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001012661.1: Suppressed sequence

    Description
    NM_001012661.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_001012663.1: Suppressed sequence

    Description
    NM_001012663.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.