SLC3A2 solute carrier family 3 member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC3A2provided by HGNC
Official Full Name: solute carrier family 3 member 2provided by HGNC
Primary source: HGNC:HGNC:11026
See related: Ensembl:ENSG00000168003 MIM:158070; AllianceGenome:HGNC:11026
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]
Expression: Ubiquitous expression in kidney (RPKM 68.6), bone marrow (RPKM 41.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (62856109..62888860)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (62845504..62878241)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (62623581..62656332)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CD98 heavy chain protein is overexpressed in non-small cell lung cancer and is a potential target for CAR T-cell therapy.
Title: CD98 heavy chain protein is overexpressed in non-small cell lung cancer and is a potential target for CAR T-cell therapy.
Anaplastic Lymphoma Kinase signaling stabilizes SLC3A2 expression via MARCH11 to promote neuroblastoma cell growth.
Title: Anaplastic Lymphoma Kinase signaling stabilizes SLC3A2 expression via MARCH11 to promote neuroblastoma cell growth.
Study on the Role and Mechanism of SLC3A2 in Tumor-Associated Macrophage Polarization and Bladder Cancer Cells Growth.
Title: Study on the Role and Mechanism of SLC3A2 in Tumor-Associated Macrophage Polarization and Bladder Cancer Cells Growth.
Structure and mechanisms of transport of human Asc1/CD98hc amino acid transporter.
Title: Structure and mechanisms of transport of human Asc1/CD98hc amino acid transporter.
Identification and validation of RNA-binding protein SLC3A2 regulates melanocyte ferroptosis in vitiligo by integrated analysis of single-cell and bulk RNA-sequencing.
Title: Identification and validation of RNA-binding protein SLC3A2 regulates melanocyte ferroptosis in vitiligo by integrated analysis of single-cell and bulk RNA-sequencing.
Effect of disulfidptosis-related genes SLC3A2, SLC7A11 and FLNB polymorphisms on risk of autoimmune thyroiditis in a Chinese population.
Title: Effect of disulfidptosis-related genes SLC3A2, SLC7A11 and FLNB polymorphisms on risk of autoimmune thyroiditis in a Chinese population.
Ancient dormant virus remnant ERVW-1 drives ferroptosis via degradation of GPX4 and SLC3A2 in schizophrenia.
Title: Ancient dormant virus remnant ERVW-1 drives ferroptosis via degradation of GPX4 and SLC3A2 in schizophrenia.
SLC3A2 N-glycosylation and Golgi remodeling regulate SLC7A amino acid exchangers and stress mitigation.
Title: SLC3A2 N-glycosylation and Golgi remodeling regulate SLC7A amino acid exchangers and stress mitigation.
SLC3A2 promotes tumor-associated macrophage polarization through metabolic reprogramming in lung cancer.
Title: SLC3A2 promotes tumor-associated macrophage polarization through metabolic reprogramming in lung cancer.
CD98 regulates the phosphorylation of HER2 and a bispecific anti-HER2/CD98 antibody inhibits the growth signal of human breast cancer cells.
Title: CD98 regulates the phosphorylation of HER2 and a bispecific anti-HER2/CD98 antibody inhibits the growth signal of human breast cancer cells.

Submit: New GeneRIF Correction See all GeneRIFs (100)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of SLC3A2	PubMed

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
Pr55(Gag)	gag	Cellular biotinylated 4F2 cell-surface antigen heavy chain (4F2HC) protein is incorporated into HIV-1 Gag virus-like particles	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AF081279 (e-PCR)
- UniSTS:35085

G15889 (e-PCR)
- UniSTS:19730

GDB:197851 (e-PCR)
- UniSTS:155967

RH98739 (e-PCR)
- UniSTS:89728

D11S1010 (e-PCR)
- UniSTS:50816

RH17582 (e-PCR)
- UniSTS:9606

MDU1 (e-PCR)
- UniSTS:68821

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-alanine transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-alanine transmembrane transporter activity	IGI Inferred from Genetic Interaction more info	PubMed
enables L-leucine transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-leucine transmembrane transporter activity	IGI Inferred from Genetic Interaction more info	PubMed
enables RNA binding	HDA more info	PubMed
enables aromatic amino acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables aromatic amino acid transmembrane transporter activity	IGI Inferred from Genetic Interaction more info	PubMed
enables cadherin binding	HDA more info	PubMed
enables double-stranded RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables exogenous protein binding	IDA Inferred from Direct Assay more info	PubMed
enables neutral L-amino acid transmembrane transporter activity	IGI Inferred from Genetic Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables virus receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in L-alanine import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-alanine import across plasma membrane	IGI Inferred from Genetic Interaction more info	PubMed
involved_in L-histidine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in L-leucine import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-leucine import across plasma membrane	IGI Inferred from Genetic Interaction more info	PubMed
involved_in L-leucine import across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in L-leucine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in L-leucine transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in amino acid transport	TAS Traceable Author Statement more info	PubMed
involved_in calcium ion transport	NAS Non-traceable Author Statement more info	PubMed
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in isoleucine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in methionine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in phenylalanine transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in phenylalanine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in phenylalanine transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in proline transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to exogenous dsRNA	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in symbiont entry into host cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in thyroid hormone transport	IDA Inferred from Direct Assay more info	PubMed
involved_in tryptophan transport	IDA Inferred from Direct Assay more info	PubMed
involved_in tryptophan transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in tyrosine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in valine transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of amino acid transport complex	IDA Inferred from Direct Assay more info	PubMed
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in apical pole of neuron	IEA Inferred from Electronic Annotation more info
located_in basal plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in basolateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	HDA more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in melanosome	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: amino acid transporter heavy chain SLC3A2

Names: 4F2 cell-surface antigen heavy chain; CD98 heavy chain; antigen defined by monoclonal antibody 4F2, heavy chain; antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43; lymphocyte activation antigen 4F2 large subunit; monoclonal antibody 44D7; solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2; solute carrier family 3 (amino acid transporter heavy chain), member 2

NCBI Reference Sequences (RefSeq)

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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)

NM_001012662.3 → NP_001012680.1 amino acid transporter heavy chain SLC3A2 isoform b

See identical proteins and their annotated locations for 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

F5GZS6

Related

ENSP00000367123.2, ENST00000377891.6

Conserved Domains (4) summary

cd11345
Location:208 → 537

AmyAc_SLC3A2; Alpha amylase catalytic domain found in solute carrier family 3 member 2 proteins

COG0366
Location:238 → 597

AmyA; Glycosidase [Carbohydrate transport and metabolism]

pfam11941
Location:520 → 625

DUF3459; Domain of unknown function (DUF3459)

pfam16028
Location:161 → 225

SLC3A2_N; Solute carrier family 3 member 2 N-terminus
NM_001012664.3 → NP_001012682.1 amino acid transporter heavy chain SLC3A2 isoform e

See identical proteins and their annotated locations for 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/TrEMBL

F5GZS6

Related

ENSP00000367121.2, ENST00000377889.6

Conserved Domains (4) summary

cd11345
Location:145 → 474

AmyAc_SLC3A2; Alpha amylase catalytic domain found in solute carrier family 3 member 2 proteins

COG0366
Location:175 → 534

AmyA; Glycosidase [Carbohydrate transport and metabolism]

pfam11941
Location:457 → 562

DUF3459; Domain of unknown function (DUF3459)

pfam16028
Location:98 → 162

SLC3A2_N; Solute carrier family 3 member 2 N-terminus
NM_001013251.3 → NP_001013269.1 amino acid transporter heavy chain SLC3A2 isoform f

See identical proteins and their annotated locations for 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)

AB018010, BX443653

Consensus CDS

CCDS31590.1

UniProtKB/TrEMBL

A0A7P0TBF8

Related

ENSP00000340815.7, ENST00000338663.12

Conserved Domains (3) summary

cd11345
Location:106 → 435

AmyAc_SLC3A2; Alpha amylase catalytic domain found in solute carrier family 3 member 2 proteins

pfam11941
Location:418 → 523

DUF3459; Domain of unknown function (DUF3459)

pfam16028
Location:59 → 124

SLC3A2_N; Solute carrier family 3 member 2 N-terminus
NM_002394.6 → NP_002385.3 amino acid transporter heavy chain SLC3A2 isoform c

See identical proteins and their annotated locations for 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

Consensus CDS

CCDS8039.2

UniProtKB/Swiss-Prot

J3KPF3, P08195, Q13543

UniProtKB/TrEMBL

A0A7P0Z4P5

Related

ENSP00000367122.2, ENST00000377890.6

Conserved Domains (3) summary

cd11345
Location:207 → 536

AmyAc_SLC3A2; Alpha amylase catalytic domain found in solute carrier family 3 member 2 proteins

pfam16028
Location:160 → 225

SLC3A2_N; Solute carrier family 3 member 2 N-terminus

cl02706
Location:519 → 624

Malt_amylase_C; Maltogenic Amylase, C-terminal domain

RNA

NR_037193.2 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

Related

ENST00000538682.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

62856109..62888860

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

62845504..62878241

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.
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.