SLC43A2 solute carrier family 43 member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC43A2provided by HGNC
Official Full Name: solute carrier family 43 member 2provided by HGNC
Primary source: HGNC:HGNC:23087
See related: Ensembl:ENSG00000167703 MIM:610791; AllianceGenome:HGNC:23087
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: LAT4
Summary: This gene encodes a member of the L-amino acid transporter-3 or SLC43 family of transporters. The encoded protein mediates sodium-, chloride-, and pH-independent transport of L-isomers of neutral amino acids, including leucine, phenylalanine, valine and methionine. This protein may contribute to the transfer of amino acids across the placental membrane to the fetus. [provided by RefSeq, Mar 2016]
Expression: Broad expression in placenta (RPKM 24.5), kidney (RPKM 14.0) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.3

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (1569254..1630088, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (1457956..1518891, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (1472548..1532128, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Plasma citrulline correlates with basolateral amino acid transporter LAT4 expression in human small intestine.
Title: Plasma citrulline correlates with basolateral amino acid transporter LAT4 expression in human small intestine.
Cancer SLC43A2 alters T cell methionine metabolism and histone methylation.
Title: Cancer SLC43A2 alters T cell methionine metabolism and histone methylation.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
In situ hybridization experiments show that LAT4 mRNA is restricted to the epithelial cells of the distal tubule and the collecting duct in the kidney. In the intestine, LAT4 is mainly present in the cells of the crypt.
Title: Identification of LAT4, a novel amino acid transporter with system L activity.

Submit: New GeneRIF Correction

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-amino acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-isoleucine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-leucine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-methionine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-phenylalanine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-phenylalanine transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables amino acid transmembrane transporter activity	TAS Traceable Author Statement more info
enables neutral L-amino acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in L-alpha-amino acid transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in L-leucine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in amino acid transport	TAS Traceable Author Statement 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
acts_upstream_of_or_within negative regulation of L-leucine import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of amino acid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in neutral amino acid 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	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: large neutral amino acids transporter small subunit 4

Names: L-type amino acid transporter 4; solute carrier family 43 (amino acid system L transporter), 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_001284498.2 → NP_001271427.1 large neutral amino acids transporter small subunit 4 isoform 1

See identical proteins and their annotated locations for NP_001271427.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1, 4 and 5 encode the same isoform (1).

Source sequence(s)

AB120364, AC100748, AC130343, HY089501

Consensus CDS

CCDS67108.1

UniProtKB/Swiss-Prot

Q8N370

Related

ENSP00000461382.1, ENST00000571650.5

Conserved Domains (1) summary

cd06174
Location:87 → 231

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
NM_001284499.1 → NP_001271428.1 large neutral amino acids transporter small subunit 4 isoform 3

See identical proteins and their annotated locations for NP_001271428.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant also lacks an alternate in-frame exon in the coding region compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AB120364, AC100748, AC130343, AK301127, DC381982, N26925

Consensus CDS

CCDS67107.1

UniProtKB/TrEMBL

Q8WUU1

Related

ENSP00000408284.3, ENST00000412517.3
NM_001321364.2 → NP_001308293.1 large neutral amino acids transporter small subunit 4 isoform 1

Status: REVIEWED

Source sequence(s)

AC100748, AC130343, BC071859

Consensus CDS

CCDS67108.1

UniProtKB/Swiss-Prot

Q8N370

Conserved Domains (1) summary

cd06174
Location:87 → 231

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
NM_001321365.2 → NP_001308294.1 large neutral amino acids transporter small subunit 4 isoform 1

Status: REVIEWED

Source sequence(s)

AC100748, AC130343, HY089501, HY154071

Consensus CDS

CCDS67108.1

UniProtKB/Swiss-Prot

Q8N370

Conserved Domains (1) summary

cd06174
Location:87 → 231

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
NM_152346.3 → NP_689559.1 large neutral amino acids transporter small subunit 4 isoform 2

See identical proteins and their annotated locations for NP_689559.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon in the coding region compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.

Source sequence(s)

AC100748, AC130343, BC027923

Consensus CDS

CCDS11006.1

UniProtKB/Swiss-Prot

B7Z6X9, C9JNU8, D3DTH9, Q5CD75, Q6IPM1, Q8N370, Q8NBX1, Q8NC21, Q8WZ00

Related

ENSP00000301335.5, ENST00000301335.10

Conserved Domains (1) summary

cl26865
Location:87 → 235

MFS_1; Major Facilitator Superfamily

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_000017.11 Reference GRCh38.p14 Primary Assembly

Range

1569254..1630088 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017024179.3 → XP_016879668.1 large neutral amino acids transporter small subunit 4 isoform X1
XM_047435331.1 → XP_047291287.1 large neutral amino acids transporter small subunit 4 isoform X2

UniProtKB/TrEMBL

Q8WUU1
XM_047435332.1 → XP_047291288.1 large neutral amino acids transporter small subunit 4 isoform X3

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NT_187611.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

1..58862 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

1457956..1518891 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054315038.1 → XP_054171013.1 large neutral amino acids transporter small subunit 4 isoform X1
XM_054315039.1 → XP_054171014.1 large neutral amino acids transporter small subunit 4 isoform X2

UniProtKB/TrEMBL

Q8WUU1
XM_054315040.1 → XP_054171015.1 large neutral amino acids transporter small subunit 4 isoform X3