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Aliases for SLC43A2 Gene

Aliases for SLC43A2 Gene

  • Solute Carrier Family 43 Member 2 2 3 4 5
  • Solute Carrier Family 43 (Amino Acid System L Transporter), Member 2 2 3
  • L-Type Amino Acid Transporter 4 3 4
  • LAT4 3 4
  • Large Neutral Amino Acids Transporter Small Subunit 4 3

External Ids for SLC43A2 Gene

Previous GeneCards Identifiers for SLC43A2 Gene

  • GC17M001426
  • GC17M001477
  • GC17M001472

Summaries for SLC43A2 Gene

Entrez Gene Summary for SLC43A2 Gene

  • 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]

GeneCards Summary for SLC43A2 Gene

SLC43A2 (Solute Carrier Family 43 Member 2) is a Protein Coding gene. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Amino acid transport across the plasma membrane. GO annotations related to this gene include L-amino acid transmembrane transporter activity. An important paralog of this gene is SLC43A1.

UniProtKB/Swiss-Prot for SLC43A2 Gene

  • Sodium-, chloride-, and pH-independent high affinity transport of large neutral amino acids.

Additional gene information for SLC43A2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC43A2 Gene

Genomics for SLC43A2 Gene

Regulatory Elements for SLC43A2 Gene

Enhancers for SLC43A2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H001604 1.8 FANTOM5 Ensembl ENCODE dbSUPER 20.7 +23.1 23086 5.2 HDGF PKNOX1 FOXA2 TBL1XR1 RB1 MLX ZSCAN4 BATF RAD21 RARA SLC43A2 PITPNA SCARF1 WDR81 CRK RN7SL105P GC17P001609
GH17H001624 1.7 FANTOM5 ENCODE dbSUPER 19.6 +2.5 2542 6.1 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 ZNF2 ZBTB7B ZNF143 ZNF207 PITPNA SLC43A2 ENSG00000263050 SMG6 ENSG00000262869 SAMD11P1 EIF4A1P9 HNRNPA1P16 ENSG00000263345 SCARF1
GH17H001616 1.8 FANTOM5 Ensembl ENCODE dbSUPER 16.6 +11.8 11845 3 HDAC1 HDGF PKNOX1 ATF1 INSM2 KLF17 RAD21 TCF12 ZNF121 ZNF366 PITPNA SLC43A2 SCARF1 WDR81 CRK HIC1 GC17P001609
GH17H001196 1.5 FANTOM5 Ensembl ENCODE 17.2 +431.5 431472 3.1 HDGF PKNOX1 TBL1XR1 RAD21 ATF7 ETV6 RUNX3 IKZF2 CREM SMARCA5 SLC43A2 PITPNA DPH1 SCARF1 CRK ENSG00000235361 ABR
GH17H001573 1.5 Ensembl ENCODE dbSUPER 13 +53.5 53538 5.2 ATF1 ARID4B SIN3A ZNF2 ZBTB7B YY1 ETS1 GLIS2 ZNF143 RUNX3 SLC43A2 SCARF1 RILP YWHAE PIR53488 RN7SL105P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC43A2 on UCSC Golden Path with GeneCards custom track

Promoters for SLC43A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000090118 1418 2001 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 ZNF2 ZBTB7B ZNF143 FOS SP3

Genomic Locations for SLC43A2 Gene

Genomic Locations for SLC43A2 Gene
chr17:1,569,254-1,630,018
(GRCh38/hg38)
Size:
60,765 bases
Orientation:
Minus strand
chr17:1,472,561-1,532,180
(GRCh37/hg19)

Genomic View for SLC43A2 Gene

Genes around SLC43A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC43A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC43A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC43A2 Gene

Proteins for SLC43A2 Gene

  • Protein details for SLC43A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N370-LAT4_HUMAN
    Recommended name:
    Large neutral amino acids transporter small subunit 4
    Protein Accession:
    Q8N370
    Secondary Accessions:
    • B7Z6X9
    • C9JNU8
    • D3DTH9
    • Q5CD75
    • Q6IPM1
    • Q8NBX1
    • Q8NC21
    • Q8WZ00

    Protein attributes for SLC43A2 Gene

    Size:
    569 amino acids
    Molecular mass:
    62747 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC11383.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC11450.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC43A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC43A2 Gene

Post-translational modifications for SLC43A2 Gene

No data available for DME Specific Peptides for SLC43A2 Gene

Domains & Families for SLC43A2 Gene

Gene Families for SLC43A2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC43A2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8N370

UniProtKB/Swiss-Prot:

LAT4_HUMAN :
  • Belongs to the SLC43A transporter (TC 2.A.1.44) family.
Family:
  • Belongs to the SLC43A transporter (TC 2.A.1.44) family.
genes like me logo Genes that share domains with SLC43A2: view

Function for SLC43A2 Gene

Molecular function for SLC43A2 Gene

UniProtKB/Swiss-Prot Function:
Sodium-, chloride-, and pH-independent high affinity transport of large neutral amino acids.

Phenotypes From GWAS Catalog for SLC43A2 Gene

Gene Ontology (GO) - Molecular Function for SLC43A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015171 amino acid transmembrane transporter activity TAS --
GO:0015175 neutral amino acid transmembrane transporter activity IBA --
GO:0015179 L-amino acid transmembrane transporter activity IBA,IEA --
genes like me logo Genes that share ontologies with SLC43A2: view
genes like me logo Genes that share phenotypes with SLC43A2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC43A2 Gene

Localization for SLC43A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC43A2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC43A2 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SLC43A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC43A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC43A2 Gene

Pathways & Interactions for SLC43A2 Gene

genes like me logo Genes that share pathways with SLC43A2: view

Interacting Proteins for SLC43A2 Gene

Gene Ontology (GO) - Biological Process for SLC43A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006865 amino acid transport TAS --
GO:0015804 neutral amino acid transport IEA --
GO:0015807 L-amino acid transport IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC43A2: view

No data available for SIGNOR curated interactions for SLC43A2 Gene

Drugs & Compounds for SLC43A2 Gene

(2) Additional Compounds for SLC43A2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SLC43A2: view

Transcripts for SLC43A2 Gene

mRNA/cDNA for SLC43A2 Gene

(8) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC43A2 Gene

Solute carrier family 43, member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC43A2 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^ 13a · 13b · 13c ^ 14a ·
SP1: - - - - - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5: - -
SP6:
SP7:
SP8: - - - - -
SP9:
SP10:
SP11: - - - - -
SP12: -
SP13:
SP14:

ExUns: 14b · 14c ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18 ^ 19 ^ 20
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9: - -
SP10: -
SP11:
SP12:
SP13:
SP14:

Relevant External Links for SLC43A2 Gene

GeneLoc Exon Structure for
SLC43A2
ECgene alternative splicing isoforms for
SLC43A2

Expression for SLC43A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC43A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC43A2 Gene

This gene is overexpressed in Whole Blood (x12.7) and Muscle - Skeletal (x4.6).

Protein differential expression in normal tissues from HIPED for SLC43A2 Gene

This gene is overexpressed in Liver (42.4) and Placenta (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC43A2 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLC43A2 Gene:

SLC43A2

SOURCE GeneReport for Unigene cluster for SLC43A2 Gene:

Hs.160550

mRNA Expression by UniProt/SwissProt for SLC43A2 Gene:

Q8N370-LAT4_HUMAN
Tissue specificity: Detected in several tissues with higher expression in placenta, kidney and peripheral blood leukocytes. In the kidney, is detected in epithelial cells of the distal tubule and collecting duct. In the intestine, is expressed mainly in crypt cells of the intestinal microvilli and epithelial cells in the base of the villus.

Evidence on tissue expression from TISSUES for SLC43A2 Gene

  • Spleen(4.3)
  • Nervous system(4.3)
  • Kidney(2.3)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with SLC43A2: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC43A2 Gene

Orthologs for SLC43A2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC43A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC43A2 33 34
  • 97.73 (n)
cow
(Bos Taurus)
Mammalia SLC43A2 33 34
  • 91.43 (n)
dog
(Canis familiaris)
Mammalia SLC43A2 33 34
  • 89.5 (n)
rat
(Rattus norvegicus)
Mammalia Slc43a2 33
  • 88.38 (n)
mouse
(Mus musculus)
Mammalia Slc43a2 33 16 34
  • 87.79 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC43A2 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC43A2 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC43A2 33 34
  • 77.22 (n)
lizard
(Anolis carolinensis)
Reptilia SLC43A2 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc43a2 33
  • 72.54 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5041 33
zebrafish
(Danio rerio)
Actinopterygii slc43a2a 34
  • 77 (a)
OneToMany
slc43a2b 33 34
  • 72.23 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11109 33
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
OneToMany
Species where no ortholog for SLC43A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLC43A2 Gene

ENSEMBL:
Gene Tree for SLC43A2 (if available)
TreeFam:
Gene Tree for SLC43A2 (if available)

Paralogs for SLC43A2 Gene

Paralogs for SLC43A2 Gene

(2) SIMAP similar genes for SLC43A2 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with SLC43A2: view

Variants for SLC43A2 Gene

Sequence variations from dbSNP and Humsavar for SLC43A2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000094947 -- 1,571,484(+) ATTCA(C/T)GCGGC utr-variant-3-prime
rs1000150770 -- 1,610,013(+) CAAGC(A/G)ATTCT intron-variant
rs1000200876 -- 1,605,816(+) CTGCC(C/T)GGGAC intron-variant, upstream-variant-2KB
rs1000246095 -- 1,609,560(+) CTAAT(C/T)CTGTG intron-variant
rs1000320136 -- 1,576,449(+) CCTAG(C/T)CACCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC43A2 Gene

Variant ID Type Subtype PubMed ID
nsv833334 CNV loss 17160897
nsv574211 CNV gain 21841781
nsv527897 CNV loss 19592680
nsv516055 CNV gain+loss 19592680
nsv457635 CNV gain 19166990
nsv1945 CNV insertion 18451855
nsv1134585 CNV deletion 24896259
esv3639692 CNV loss 21293372
esv3639691 CNV loss 21293372
esv3639690 CNV loss 21293372
esv2715477 CNV deletion 23290073
esv2715476 CNV deletion 23290073
esv2715475 CNV deletion 23290073
esv2715472 CNV deletion 23290073
esv2670177 CNV deletion 23128226
esv2660696 CNV deletion 23128226
esv1004030 CNV deletion 20482838

Variation tolerance for SLC43A2 Gene

Residual Variation Intolerance Score: 26.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.54; 29.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC43A2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC43A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC43A2 Gene

Disorders for SLC43A2 Gene

Relevant External Links for SLC43A2

Genetic Association Database (GAD)
SLC43A2
Human Genome Epidemiology (HuGE) Navigator
SLC43A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC43A2

No disorders were found for SLC43A2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SLC43A2 Gene

Publications for SLC43A2 Gene

  1. The small SLC43 family: facilitator system l amino acid transporters and the orphan EEG1. (PMID: 23268354) Bodoy S … Palacín M (Molecular aspects of medicine 2013) 2 3 60
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  4. Identification of LAT4, a novel amino acid transporter with system L activity. (PMID: 15659399) Bodoy S … Bertran J (The Journal of biological chemistry 2005) 3 4 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for SLC43A2 Gene

Sources for SLC43A2 Gene

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