SLC38A2 solute carrier family 38 member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC38A2provided by HGNC
Official Full Name: solute carrier family 38 member 2provided by HGNC
Primary source: HGNC:HGNC:13448
See related: Ensembl:ENSG00000134294 MIM:605180
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ATA2; SAT2; SNAT2; PRO1068
Expression: Ubiquitous expression in skin (RPKM 105.3), liver (RPKM 101.3) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 12q13.11

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
109.20200228	current	GRCh38.p13 (GCF_000001405.39)	12	NC_000012.12 (46358188..46372774, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (46751971..46766645, complement)

Chromosome 12 - NC_000012.12 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
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?

nutrient ingestion during repeated 30-s bouts of sprint exercise induces expression of the amino acid transporter SNAT2 and stimulates Akt/mTOR signaling and most likely the rate of muscle protein synthesis
Title: Influence of nutrient ingestion on amino acid transporters and protein synthesis in human skeletal muscle after sprint exercise.
there is a disulfide bond between Cys245 and Cys279 in SNAT2 which has no effect on cell surface trafficking, as well as transporter function
Title: Identification of a Disulfide Bridge in Sodium-Coupled Neutral Amino Acid Transporter 2(SNAT2) by Chemical Modification.
In the absence of SLC1A5 there is a crucial role of SNAT1 in supplying glutamine for glutaminolysis with SNAT2 acting as a "backup" for glutamine transport.
Title: Deletion of Amino Acid Transporter ASCT2 (SLC1A5) Reveals an Essential Role for Transporters SNAT1 (SLC38A1) and SNAT2 (SLC38A2) to Sustain Glutaminolysis in Cancer Cells.
Propose regulation of placental SNAT2/LAT1 ubiquitination by mTORC1 and Nedd4-2.
Title: Regulation of amino acid transporter trafficking by mTORC1 in primary human trophoblast cells is mediated by the ubiquitin ligase Nedd4-2.
Decreased placental mTOR activity causes down-regulation of placental system A activity by shifting SNAT-2 trafficking towards proteasomal degradation, thereby contributing to decreased fetal amino acid availability and restricted fetal growth in IUGR.
Title: Increased ubiquitination and reduced plasma membrane trafficking of placental amino acid transporter SNAT-2 in human IUGR.
GADD34 promotes cell survival and adaptation to increased extracellular osmolarity by increasing the uptake of small neutral amino acids via the amino acid transporter SNAT2.
Title: Coordinated Regulation of the Neutral Amino Acid Transporter SNAT2 and the Protein Phosphatase Subunit GADD34 Promotes Adaptation to Increased Extracellular Osmolarity.
Increased availability of unsaturated fatty acids can compromise the stress-induced induction/adaptation in SNAT2 expression.
Title: Proteasomal modulation of cellular SNAT2 (SLC38A2) abundance and function by unsaturated fatty acid availability.
SLC38A1 and SLC38A2 transcript levels are altered in placental malaria with intervillositis.
Title: Plasmodium falciparum malaria elicits inflammatory responses that dysregulate placental amino acid transport.
SNAT2 mRNA levels were significantly decreased in intrauterine growth-restricted placentas with reduced umbilical blood flows.
Title: SNAT2 expression and regulation in human growth-restricted placentas.
Placental mRNA expression of system A transporter isoforms SLC38A1 and -2 was lower in teenagers than in adults which may underlie their susceptibility to delivering small-for-gestational-age infants.
Title: Effect of maternal age and growth on placental nutrient transport: potential mechanisms for teenagers' predisposition to small-for-gestational-age birth?

Submit: New GeneRIF Correction See all GeneRIFs (26)

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 SLC38A2	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

D12S2010 (e-PCR)
- UniSTS:772

WI-11919 (e-PCR)
- UniSTS:3397

RH17405 (e-PCR)
- UniSTS:51325

RH67932 (e-PCR)
- UniSTS:15533

RH11173 (e-PCR)
- UniSTS:76002

Homology

Homologs of the SLC38A2 gene: The SLC38A2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 266 organisms have orthologs with human gene SLC38A2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
L-glutamine transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
L-serine transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
amino acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
amino acid transmembrane transporter activity	TAS Traceable Author Statement more info
neutral amino acid:sodium symporter activity	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
L-serine transport	ISS Inferred from Sequence or Structural Similarity more info
alanine transport	IEA Inferred from Electronic Annotation more info
amino acid transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed
amino acid transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
amino acid transport	TAS Traceable Author Statement more info
cellular response to amino acid starvation	IEA Inferred from Electronic Annotation more info
cellular response to arsenite(3-)	IMP Inferred from Mutant Phenotype more info	PubMed
cellular response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
cerebral cortex development	IEA Inferred from Electronic Annotation more info
female pregnancy	IEA Inferred from Electronic Annotation more info
glutamate secretion	TAS Traceable Author Statement more info
glutamine transport	ISS Inferred from Sequence or Structural Similarity more info
glycine betaine transport	IEA Inferred from Electronic Annotation more info
neutral amino acid transport	IDA Inferred from Direct Assay more info	PubMed
positive regulation of RNA splicing	IPI Inferred from Physical Interaction more info	PubMed
positive regulation of gene expression	IPI Inferred from Physical Interaction more info	PubMed
regulation of cellular response to stress	IMP Inferred from Mutant Phenotype more info	PubMed
sodium ion transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
axon	IEA Inferred from Electronic Annotation more info
brush border	IEA Inferred from Electronic Annotation more info
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
dendrite	IEA Inferred from Electronic Annotation more info
integral component of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
neuronal cell body	IEA Inferred from Electronic Annotation more info
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
sarcolemma	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: sodium-coupled neutral amino acid transporter 2

Names: amino acid transporter 2; amino acid transporter A2; protein 40-9-1; system A amino acid transporter 2; system A transporter 1; system N amino acid transporter 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_001307936.2 → NP_001294865.1 sodium-coupled neutral amino acid transporter 2 isoform 2 precursor

See identical proteins and their annotated locations for NP_001294865.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an exon in its 5' coding region compared to variant 1. This variant represents translation initiation at an alternate start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the alternate start codon to encode an isoform (2) that has a distinct and shorter N-terminus, compared to isoform 1.

Source sequence(s)

AK001700, BC029379, BC040342, DA725217

Consensus CDS

CCDS76551.1

UniProtKB/Swiss-Prot

Q96QD8

UniProtKB/TrEMBL

Q8NHT5

Related

ENSP00000482873.1, ENST00000612232.1

Conserved Domains (1) summary

cl00456
Location:5 → 395

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
NM_018976.5 → NP_061849.2 sodium-coupled neutral amino acid transporter 2 isoform 1

See identical proteins and their annotated locations for NP_061849.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC025031, BC040342, DA725217

Consensus CDS

CCDS8749.1

UniProtKB/Swiss-Prot

Q96QD8

UniProtKB/TrEMBL

A0A024R0W3

Related

ENSP00000256689.5, ENST00000256689.10

Conserved Domains (1) summary

cl00456
Location:69 → 495

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain