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Aliases for SLC23A3 Gene

Aliases for SLC23A3 Gene

  • Solute Carrier Family 23 Member 3 2 3 5
  • Sodium-Dependent Vitamin C Transporter 3 3 4
  • Na(+)/L-Ascorbic Acid Transporter 3 3 4
  • HPC E2-Binding Protein 3 3 4
  • E2BP3 3 4
  • SVCT3 3 4
  • Solute Carrier Family 23 (Nucleobase Transporters), Member 3 3
  • Solute Carrier Family 23, Member 3 2
  • E2-Binding Protein 3 3
  • Yspl1 3

External Ids for SLC23A3 Gene

Previous GeneCards Identifiers for SLC23A3 Gene

  • GC02M218662
  • GC02M219905
  • GC02M220143
  • GC02M220228
  • GC02M219766
  • GC02M219851
  • GC02M219649
  • GC02M219940
  • GC02M211879
  • GC02M219076

Summaries for SLC23A3 Gene

GeneCards Summary for SLC23A3 Gene

SLC23A3 (Solute Carrier Family 23 Member 3) is a Protein Coding gene. Diseases associated with SLC23A3 include Epilepsy, Generalized, With Febrile Seizures Plus, Type 5. GO annotations related to this gene include transporter activity. An important paralog of this gene is SLC23A2.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC23A3 Gene

Genomics for SLC23A3 Gene

Regulatory Elements for SLC23A3 Gene

Enhancers for SLC23A3 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
GH02G219121 1.5 Ensembl ENCODE dbSUPER 22.3 +45.0 45027 7.2 FOXA2 ATF1 ARID4B YBX1 TCF12 FOS SP5 KAT8 SREBF1 MIER3 SLC23A3 NHEJ1 IHH LOC100129175 MIR375 CRYBA2 FEV LINC00608 CNPPD1 RETREG2
GH02G219175 1.4 ENCODE dbSUPER 16.6 -7.4 -7362 4.2 HDGF HNRNPUL1 FOXA2 MLX CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 SLC23A3 RETREG2 CNPPD1
GH02G219520 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -351.9 -351930 3.5 HDGF PKNOX1 ATF1 ARNT ETS1 TCF12 GTF3C2 ZNF766 GLIS2 ELK1 ASIC4 CNOT9 NHEJ1 USP37 SLC23A3 BCS1L ANKZF1 ENSG00000272644 LOC105373885 TMEM198
GH02G218566 1.8 FANTOM5 ENCODE dbSUPER 11.7 +600.8 600778 4.7 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC CNOT9 PLCD4 BCS1L USP37 SLC23A3 NHEJ1 AAMP ZNF142 RNF25 CNPPD1
GH02G219170 1.2 Ensembl ENCODE dbSUPER 17.4 -1.7 -1674 1.8 HDGF CTCF MAX ZNF384 RAD21 POLR2A ZNF143 SMC3 MAFK ZNF654 SLC23A3 ENSG00000280537 RETREG2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC23A3 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC23A3 Gene

Chromosome:
2
Start:
219,161,459 bp from pter
End:
219,170,095 bp from pter
Size:
8,637 bases
Orientation:
Minus strand

Genomic View for SLC23A3 Gene

Genes around SLC23A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC23A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC23A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC23A3 Gene

Proteins for SLC23A3 Gene

  • Protein details for SLC23A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PIS1-S23A3_HUMAN
    Recommended name:
    Solute carrier family 23 member 3
    Protein Accession:
    Q6PIS1
    Secondary Accessions:
    • B7Z512
    • Q2PYN6
    • Q96NA6

    Protein attributes for SLC23A3 Gene

    Size:
    610 amino acids
    Molecular mass:
    64531 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=ABC17635.1; Type=Miscellaneous discrepancy; Note=Fragment of a potential novel isoform.; Evidence={ECO:0000305}; Sequence=BAB70999.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC23A3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC23A3 Gene

Post-translational modifications for SLC23A3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC23A3 Gene

No data available for DME Specific Peptides for SLC23A3 Gene

Domains & Families for SLC23A3 Gene

Gene Families for SLC23A3 Gene

Protein Domains for SLC23A3 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q6PIS1

UniProtKB/Swiss-Prot:

S23A3_HUMAN :
  • Belongs to the xanthine/uracil permease family. Nucleobase:cation symporter-2 (NCS2) (TC 2.A.40) subfamily.
Family:
  • Belongs to the xanthine/uracil permease family. Nucleobase:cation symporter-2 (NCS2) (TC 2.A.40) subfamily.
genes like me logo Genes that share domains with SLC23A3: view

Function for SLC23A3 Gene

Gene Ontology (GO) - Molecular Function for SLC23A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IEA --
genes like me logo Genes that share ontologies with SLC23A3: view
genes like me logo Genes that share phenotypes with SLC23A3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC23A3

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC23A3 Gene

Localization for SLC23A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC23A3 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 SLC23A3 gene
Compartment Confidence
plasma membrane 3
nucleus 2

Gene Ontology (GO) - Cellular Components for SLC23A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC23A3: view

Pathways & Interactions for SLC23A3 Gene

SuperPathways for SLC23A3 Gene

No Data Available

Interacting Proteins for SLC23A3 Gene

Gene Ontology (GO) - Biological Process for SLC23A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC23A3: view

No data available for Pathways by source and SIGNOR curated interactions for SLC23A3 Gene

Drugs & Compounds for SLC23A3 Gene

(1) Drugs for SLC23A3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin C Approved Nutra 531,531
genes like me logo Genes that share compounds with SLC23A3: view

Transcripts for SLC23A3 Gene

Unigene Clusters for SLC23A3 Gene

Solute carrier family 23 (nucleobase transporters), member 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC23A3 Gene

No ASD Table

Relevant External Links for SLC23A3 Gene

GeneLoc Exon Structure for
SLC23A3
ECgene alternative splicing isoforms for
SLC23A3

Expression for SLC23A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC23A3 Gene

mRNA differential expression in normal tissues according to GTEx for SLC23A3 Gene

This gene is overexpressed in Kidney - Cortex (x7.5) and Small Intestine - Terminal Ileum (x6.7).

Protein differential expression in normal tissues from HIPED for SLC23A3 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC23A3 Gene



Protein tissue co-expression partners for SLC23A3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC23A3 Gene:

SLC23A3

SOURCE GeneReport for Unigene cluster for SLC23A3 Gene:

Hs.124565

Evidence on tissue expression from TISSUES for SLC23A3 Gene

  • Kidney(4.6)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with SLC23A3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC23A3 Gene

Orthologs for SLC23A3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC23A3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC23A3 34 35
  • 99.57 (n)
dog
(Canis familiaris)
Mammalia SLC23A3 34 35
  • 86.52 (n)
cow
(Bos Taurus)
Mammalia SLC23A3 34 35
  • 85.11 (n)
mouse
(Mus musculus)
Mammalia Slc23a3 34 16 35
  • 82.37 (n)
rat
(Rattus norvegicus)
Mammalia Slc23a3 34
  • 81.71 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC23A3 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 26 (a)
ManyToMany
chicken
(Gallus gallus)
Aves SLC23A3 34 35
  • 58.89 (n)
lizard
(Anolis carolinensis)
Reptilia SLC23A3 35
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc23a3 34
  • 54.45 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100333020 34
  • 50.14 (n)
slc23a3 35
  • 39 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C51E3.6 35
  • 25 (a)
OneToMany
R11E3.2 35
  • 22 (a)
OneToMany
T07G12.2 35
  • 22 (a)
OneToMany
T07G12.5 35
  • 21 (a)
OneToMany
Y59E9AL.4 35
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 27 (a)
ManyToMany
Species where no ortholog for SLC23A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for SLC23A3 Gene

ENSEMBL:
Gene Tree for SLC23A3 (if available)
TreeFam:
Gene Tree for SLC23A3 (if available)

Paralogs for SLC23A3 Gene

Paralogs for SLC23A3 Gene

(3) SIMAP similar genes for SLC23A3 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with SLC23A3: view

Variants for SLC23A3 Gene

Sequence variations from dbSNP and Humsavar for SLC23A3 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000036236 -- 219,161,146(+) AGGTC(C/T)TCCAC downstream-variant-500B, upstream-variant-2KB
rs1000053654 -- 219,162,936(+) AGTTG(A/T)GAACT intron-variant
rs1000653064 -- 219,164,177(+) CTGAT(C/T)AGGCC intron-variant
rs1001454482 -- 219,169,581(+) AGGCC(A/G)GGAGC reference, missense
rs1001567573 -- 219,170,039(+) AGAGA(A/G)AGTAA utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for SLC23A3 Gene

Variant ID Type Subtype PubMed ID
nsv508200 CNV deletion 20534489

Variation tolerance for SLC23A3 Gene

Residual Variation Intolerance Score: 31% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.28; 53.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC23A3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC23A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC23A3 Gene

Disorders for SLC23A3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC23A3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
epilepsy, generalized, with febrile seizures plus, type 5
  • epilepsy, idiopathic generalized, 10
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC23A3

Genetic Association Database (GAD)
SLC23A3
Human Genome Epidemiology (HuGE) Navigator
SLC23A3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC23A3
genes like me logo Genes that share disorders with SLC23A3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC23A3 Gene

Publications for SLC23A3 Gene

  1. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J. … Grant S.F. (BMC Med. Genet. 2010) 3 46 64
  2. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson D.F. … Stefansson K. (Nat. Genet. 2008) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. (PMID: 25429064) He M. … Qi L. (Hum. Mol. Genet. 2015) 3 64
  5. Interactome mapping of the phosphatidylinositol 3-kinase-mammalian target of rapamycin pathway identifies deformed epidermal autoregulatory factor-1 as a new glycogen synthase kinase-3 interactor. (PMID: 20368287) Pilot-Storck F. … Goillot E. (Mol. Cell Proteomics 2010) 3 64

Products for SLC23A3 Gene

Sources for SLC23A3 Gene

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