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

Gene ID: 124935, updated on 23-Sep-2022

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
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Genomic context

See SLC43A2 in Genome Data Viewer
Location:
17p13.3
Exon count:
18
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (1569254..1630088, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (1457956..1517637, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (1472548..1532128, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371483 Neighboring gene inositol polyphosphate-5-phosphatase K Neighboring gene PITPNA antisense RNA 1 Neighboring gene phosphatidylinositol transfer protein alpha Neighboring gene RNA, 7SL, cytoplasmic 105, pseudogene Neighboring gene small nucleolar RNA U13 Neighboring gene scavenger receptor class F member 1 Neighboring gene Rab interacting lysosomal protein

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23848, MGC34680

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in L-alpha-amino acid transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in L-amino acid transport IEA
Inferred from Electronic Annotation
more info
 
involved_in amino acid transport TAS
Traceable Author Statement
more info
 
involved_in cation transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in isoleucine transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in leucine 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 amino acid transport IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within negative regulation of leucine import IDA
Inferred from Direct Assay
more info
PubMed 
involved_in neutral amino acid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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)

NEW Try the new Transcript table

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_001284498.2NP_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:87231
    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 ...
  2. NM_001284499.1NP_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/Swiss-Prot
    Q8N370
    Related
    ENSP00000408284.3, ENST00000412517.3
  3. NM_001321364.2NP_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:87231
    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 ...
  4. NM_001321365.2NP_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:87231
    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 ...
  5. NM_152346.3NP_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
    Q8N370, Q8WZ00
    Related
    ENSP00000301335.5, ENST00000301335.10
    Conserved Domains (1) summary
    cl26865
    Location:87235
    MFS_1; Major Facilitator Superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    1569254..1630088 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024179.3XP_016879668.1  large neutral amino acids transporter small subunit 4 isoform X1

  2. XM_047435331.1XP_047291287.1  large neutral amino acids transporter small subunit 4 isoform X2

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

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187611.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    1..58862 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    1457956..1517637 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)